{
  "url": "https://dantelabs.com/hu/genes/nipal4",
  "gene": {
    "slug": "nipal4",
    "symbol": "NIPAL4",
    "name": "NIPA like domain containing 4",
    "hgnc": "HGNC:28018",
    "summary": null,
    "location": "5q33.3",
    "locusType": "gene with protein product",
    "aliases": [
      "ICHYN",
      "SLC57A6",
      "NIPA4"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000172548",
    "entrezId": 348938,
    "omim": [
      "609383"
    ],
    "uniprot": [
      "Q0D2K0"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 157460213,
      "end": 157474722,
      "strand": "+",
      "ensemblTranscript": "ENST00000311946.8",
      "refseqTranscript": "NM_001099287.2",
      "ensemblProtein": "ENSP00000311687.8",
      "refseqProtein": "NP_001092757.2",
      "exons": [
        {
          "start": 157460213,
          "end": 157460357
        },
        {
          "start": 157463094,
          "end": 157463333
        },
        {
          "start": 157467049,
          "end": 157467105
        },
        {
          "start": 157468722,
          "end": 157468812
        },
        {
          "start": 157471657,
          "end": 157471817
        },
        {
          "start": 157472332,
          "end": 157474722
        }
      ],
      "cds": {
        "start": 157460321,
        "end": 157472960
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 156887027,
      "end": 156901725,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 156967468,
      "end": 157967467,
      "genes": [
        {
          "symbol": "HAVCR1",
          "ensemblId": "ENSG00000113249",
          "biotype": "protein_coding",
          "start": 157025939,
          "end": 157069396,
          "strand": "-",
          "slug": "havcr1"
        },
        {
          "symbol": "HAVCR2",
          "ensemblId": "ENSG00000135077",
          "biotype": "protein_coding",
          "start": 157085422,
          "end": 157142869,
          "strand": "-",
          "slug": "havcr2"
        },
        {
          "symbol": "MED7",
          "ensemblId": "ENSG00000155868",
          "biotype": "protein_coding",
          "start": 157134848,
          "end": 157159019,
          "strand": "-",
          "slug": "med7"
        },
        {
          "symbol": "ITK",
          "ensemblId": "ENSG00000113263",
          "biotype": "protein_coding",
          "start": 157142933,
          "end": 157255185,
          "strand": "+",
          "slug": "itk"
        },
        {
          "symbol": "GARIN3",
          "ensemblId": "ENSG00000170613",
          "biotype": "protein_coding",
          "start": 157161846,
          "end": 157166264,
          "strand": "-",
          "slug": "garin3"
        },
        {
          "symbol": "CYFIP2",
          "ensemblId": "ENSG00000055163",
          "biotype": "protein_coding",
          "start": 157266079,
          "end": 157395595,
          "strand": "+",
          "slug": "cyfip2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000285868",
          "biotype": "protein_coding",
          "start": 157341596,
          "end": 157460100,
          "strand": "-"
        },
        {
          "symbol": "FNDC9",
          "ensemblId": "ENSG00000172568",
          "biotype": "protein_coding",
          "start": 157341598,
          "end": 157345766,
          "strand": "-",
          "slug": "fndc9"
        },
        {
          "symbol": "ADAM19",
          "ensemblId": "ENSG00000135074",
          "biotype": "protein_coding",
          "start": 157395534,
          "end": 157575858,
          "strand": "-",
          "slug": "adam19"
        },
        {
          "symbol": "SOX30",
          "ensemblId": "ENSG00000039600",
          "biotype": "protein_coding",
          "start": 157624798,
          "end": 157671480,
          "strand": "-",
          "slug": "sox30"
        },
        {
          "symbol": "C5orf52",
          "ensemblId": "ENSG00000187658",
          "biotype": "protein_coding",
          "start": 157671515,
          "end": 157680174,
          "strand": "+",
          "slug": "c5orf52"
        },
        {
          "symbol": "THG1L",
          "ensemblId": "ENSG00000113272",
          "biotype": "protein_coding",
          "start": 157731402,
          "end": 157741449,
          "strand": "+",
          "slug": "thg1l"
        },
        {
          "symbol": "LSM11",
          "ensemblId": "ENSG00000155858",
          "biotype": "protein_coding",
          "start": 157743706,
          "end": 157760709,
          "strand": "+",
          "slug": "lsm11"
        },
        {
          "symbol": "CLINT1",
          "ensemblId": "ENSG00000113282",
          "biotype": "protein_coding",
          "start": 157783121,
          "end": 157859206,
          "strand": "-",
          "slug": "clint1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "inherited-ichthyoses",
        "name": "Inherited Ichthyoses",
        "diseases": [
          {
            "mondoId": "MONDO:0017265",
            "name": "Autosomal recessive congenital ichthyosis",
            "genes": 15,
            "inheritance": "autosomal-recessive",
            "description": "A group of recessive ichthyoses, including harlequin ichthyosis and lamellar ichthyosis, usually present at birth, often with a collodion membrane.",
            "management": "Early diagnosis guides neonatal care, emollient and keratolytic regimens, and heat-intolerance precautions.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/inherited-ichthyoses"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-helix-morphology",
        "name": "Abnormal helix morphology",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-helix-morphology"
      },
      {
        "slug": "abnormal-nail-morphology",
        "name": "Abnormality of the nail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-nail-morphology"
      },
      {
        "slug": "amniotic-constriction-ring",
        "name": "Amniotic constriction ring",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/amniotic-constriction-ring"
      },
      {
        "slug": "keratoconus",
        "name": "Bulging cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/keratoconus"
      },
      {
        "slug": "chronic-irritative-conjunctivitis",
        "name": "Chronic irritative conjunctivitis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chronic-irritative-conjunctivitis"
      },
      {
        "slug": "cicatricial-ectropion",
        "name": "Cicatricial ectropion",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cicatricial-ectropion"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "conductive-hearing-impairment",
        "name": "Conductive deafness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/conductive-hearing-impairment"
      },
      {
        "slug": "congenital-nonbullous-ichthyosiform-erythroderma",
        "name": "Congenital nonbullous ichthyosiform erythroderma",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/congenital-nonbullous-ichthyosiform-erythroderma"
      },
      {
        "slug": "keratitis",
        "name": "Corneal inflammation",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/keratitis"
      },
      {
        "slug": "corneal-perforation",
        "name": "Corneal perforation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/corneal-perforation"
      },
      {
        "slug": "corneal-ulceration",
        "name": "Corneal ulceration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/corneal-ulceration"
      },
      {
        "slug": "skin-fissure",
        "name": "Cracked skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skin-fissure"
      },
      {
        "slug": "corneal-erosion",
        "name": "Damage to outer layer of the cornea of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/corneal-erosion"
      },
      {
        "slug": "hypohidrosis",
        "name": "Decreased ability to sweat",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypohidrosis"
      },
      {
        "slug": "dehydration",
        "name": "Dehydration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dehydration"
      },
      {
        "slug": "diminished-health-related-quality-of-life",
        "name": "Diminished health-related quality of life",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/diminished-health-related-quality-of-life"
      },
      {
        "slug": "dry-skin",
        "name": "Dry skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dry-skin"
      },
      {
        "slug": "euryblepharon",
        "name": "Euryblepharon",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/euryblepharon"
      },
      {
        "slug": "ectropion",
        "name": "Everted eyelid",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ectropion"
      },
      {
        "slug": "eyebrow-scaling-skin",
        "name": "Eyebrow scaling skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/eyebrow-scaling-skin"
      },
      {
        "slug": "entropion",
        "name": "Eyelid folded in",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/entropion"
      },
      {
        "slug": "lagophthalmos",
        "name": "Eyelids stay open",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lagophthalmos"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "generalized-ichthyosis",
        "name": "Generalized ichthyosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-ichthyosis"
      },
      {
        "slug": "generalized-scaling",
        "name": "Generalized scaling",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/generalized-scaling"
      },
      {
        "slug": "alopecia",
        "name": "Hair loss",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/alopecia"
      },
      {
        "slug": "scarring-alopecia-of-scalp",
        "name": "Hair loss on scalp from scarring condition",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scarring-alopecia-of-scalp"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "heat-intolerance",
        "name": "Heat intolerance",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/heat-intolerance"
      },
      {
        "slug": "hyperkeratosis",
        "name": "Hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperkeratosis"
      },
      {
        "slug": "ichthyosis",
        "name": "Ichthyosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ichthyosis"
      },
      {
        "slug": "sepsis",
        "name": "Infection in blood stream",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/sepsis"
      },
      {
        "slug": "blepharitis",
        "name": "Inflammation of eyelids",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blepharitis"
      },
      {
        "slug": "pruritus",
        "name": "Itching",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pruritus"
      },
      {
        "slug": "limb-joint-contracture",
        "name": "Limb contractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limb-joint-contracture"
      },
      {
        "slug": "loss-of-eyelashes",
        "name": "Loss of eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/loss-of-eyelashes"
      },
      {
        "slug": "orthokeratosis",
        "name": "Orthokeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/orthokeratosis"
      },
      {
        "slug": "eclabion",
        "name": "Outward turned lips",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eclabion"
      },
      {
        "slug": "pain",
        "name": "Pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pain"
      },
      {
        "slug": "parakeratosis",
        "name": "Parakeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/parakeratosis"
      },
      {
        "slug": "nail-dystrophy",
        "name": "Poor nail formation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nail-dystrophy"
      },
      {
        "slug": "punctal-stenosis",
        "name": "Punctal stenosis",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/punctal-stenosis"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "erythroderma",
        "name": "Red scaly skin caused by inflammatory skin disease",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/erythroderma"
      },
      {
        "slug": "scaling-skin",
        "name": "Scaling skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/scaling-skin"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "sparse-hair",
        "name": "Sparse hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sparse-hair"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-eyebrow",
        "name": "Sparse or absent eyebrows",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-eyebrow"
      },
      {
        "slug": "stiff-skin",
        "name": "Stiff skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/stiff-skin"
      },
      {
        "slug": "palmoplantar-keratoderma",
        "name": "Thickening of palms and soles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/palmoplantar-keratoderma"
      },
      {
        "slug": "epidermal-acanthosis",
        "name": "Thickening of upper layer of skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/epidermal-acanthosis"
      },
      {
        "slug": "lack-of-skin-elasticity",
        "name": "Tight skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lack-of-skin-elasticity"
      }
    ],
    "related": [
      {
        "slug": "abca12",
        "symbol": "ABCA12",
        "name": "ATP binding cassette subfamily A member 12",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/abca12"
      },
      {
        "slug": "alox12b",
        "symbol": "ALOX12B",
        "name": "arachidonate 12-lipoxygenase, 12R type",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/alox12b"
      },
      {
        "slug": "aloxe3",
        "symbol": "ALOXE3",
        "name": "arachidonate epidermal lipoxygenase 3",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/aloxe3"
      },
      {
        "slug": "cers3",
        "symbol": "CERS3",
        "name": "ceramide synthase 3",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cers3"
      },
      {
        "slug": "csta",
        "symbol": "CSTA",
        "name": "cystatin A",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/csta"
      },
      {
        "slug": "cyp4f22",
        "symbol": "CYP4F22",
        "name": "cytochrome P450 family 4 subfamily F member 22",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cyp4f22"
      },
      {
        "slug": "krt2",
        "symbol": "KRT2",
        "name": "keratin 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/krt2"
      },
      {
        "slug": "lipn",
        "symbol": "LIPN",
        "name": "lipase family member N",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/lipn"
      },
      {
        "slug": "pnpla1",
        "symbol": "PNPLA1",
        "name": "patatin like domain 1, omega-hydroxyceramide transacylase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/pnpla1"
      },
      {
        "slug": "sdr9c7",
        "symbol": "SDR9C7",
        "name": "short chain dehydrogenase/reductase family 9C member 7",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/sdr9c7"
      },
      {
        "slug": "serpinb8",
        "symbol": "SERPINB8",
        "name": "serpin family B member 8",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/serpinb8"
      },
      {
        "slug": "st14",
        "symbol": "ST14",
        "name": "ST14 transmembrane serine protease matriptase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/st14"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}