{
  "url": "https://dantelabs.com/traits/renal-tubular-dysfunction",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "renal-tubular-dysfunction",
    "id": "HP:0000124",
    "name": "Abnormal function of filtrating structures in kidney",
    "label": "Renal tubular dysfunction",
    "definition": "Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid.",
    "synonyms": [
      "Renal tubular defect"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-genitourinary-system",
        "name": "Abnormality of the genitourinary system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-genitourinary-system"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-renal-physiology",
        "name": "Abnormal kidney function",
        "url": "https://dantelabs.com/traits/abnormal-renal-physiology"
      }
    ],
    "narrower": [
      {
        "slug": "proximal-tubulopathy",
        "name": "Proximal tubulopathy",
        "genes": 58,
        "url": "https://dantelabs.com/traits/proximal-tubulopathy"
      },
      {
        "slug": "renal-tubular-acidosis",
        "name": "Accumulation of acid in body due to kidney problem",
        "genes": 27,
        "url": "https://dantelabs.com/traits/renal-tubular-acidosis"
      },
      {
        "slug": "abnormal-renal-tubular-resorption",
        "name": "Abnormal renal tubular resorption",
        "genes": 1,
        "url": "https://dantelabs.com/traits/abnormal-renal-tubular-resorption"
      }
    ],
    "genes": [
      {
        "slug": "slc5a2",
        "symbol": "SLC5A2",
        "hgnc": "HGNC:11037",
        "name": "solute carrier family 5 member 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc5a2"
      },
      {
        "slug": "ctns",
        "symbol": "CTNS",
        "hgnc": "HGNC:2518",
        "name": "cystinosin, lysosomal cystine transporter",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctns"
      },
      {
        "slug": "coa8",
        "symbol": "COA8",
        "hgnc": "HGNC:20492",
        "name": "cytochrome c oxidase assembly factor 8",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/coa8"
      },
      {
        "slug": "gnas",
        "symbol": "GNAS",
        "hgnc": "HGNC:4392",
        "name": "GNAS complex locus",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gnas"
      },
      {
        "slug": "slc7a7",
        "symbol": "SLC7A7",
        "hgnc": "HGNC:11065",
        "name": "solute carrier family 7 member 7",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc7a7"
      },
      {
        "slug": "trmt5",
        "symbol": "TRMT5",
        "hgnc": "HGNC:23141",
        "name": "tRNA methyltransferase 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trmt5"
      },
      {
        "slug": "vipas39",
        "symbol": "VIPAS39",
        "hgnc": "HGNC:20347",
        "name": "VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vipas39"
      },
      {
        "slug": "vps33b",
        "symbol": "VPS33B",
        "hgnc": "HGNC:12712",
        "name": "VPS33B late endosome and lysosome associated",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vps33b"
      },
      {
        "slug": "abcc8",
        "symbol": "ABCC8",
        "hgnc": "HGNC:59",
        "name": "ATP binding cassette subfamily C member 8",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abcc8"
      },
      {
        "slug": "gck",
        "symbol": "GCK",
        "hgnc": "HGNC:4195",
        "name": "glucokinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gck"
      },
      {
        "slug": "ins",
        "symbol": "INS",
        "hgnc": "HGNC:6081",
        "name": "insulin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ins"
      },
      {
        "slug": "kcnj11",
        "symbol": "KCNJ11",
        "hgnc": "HGNC:6257",
        "name": "potassium inwardly rectifying channel subfamily J member 11",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnj11"
      },
      {
        "slug": "mmut",
        "symbol": "MMUT",
        "hgnc": "HGNC:7526",
        "name": "methylmalonyl-CoA mutase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mmut"
      },
      {
        "slug": "pdx1",
        "symbol": "PDX1",
        "hgnc": "HGNC:6107",
        "name": "pancreatic and duodenal homeobox 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdx1"
      },
      {
        "slug": "stat3",
        "symbol": "STAT3",
        "hgnc": "HGNC:11364",
        "name": "signal transducer and activator of transcription 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stat3"
      },
      {
        "slug": "iars2",
        "symbol": "IARS2",
        "hgnc": "HGNC:29685",
        "name": "isoleucyl-tRNA synthetase 2, mitochondrial",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/iars2"
      },
      {
        "slug": "kcnj2",
        "symbol": "KCNJ2",
        "hgnc": "HGNC:6263",
        "name": "potassium inwardly rectifying channel subfamily J member 2",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnj2"
      },
      {
        "slug": "kcnj5",
        "symbol": "KCNJ5",
        "hgnc": "HGNC:6266",
        "name": "potassium inwardly rectifying channel subfamily J member 5",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnj5"
      },
      {
        "slug": "atp7b",
        "symbol": "ATP7B",
        "hgnc": "HGNC:870",
        "name": "ATPase copper transporting beta",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp7b"
      },
      {
        "slug": "cox10",
        "symbol": "COX10",
        "hgnc": "HGNC:2260",
        "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cox10"
      },
      {
        "slug": "cox15",
        "symbol": "COX15",
        "hgnc": "HGNC:2263",
        "name": "cytochrome c oxidase assembly factor COX15",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cox15"
      },
      {
        "slug": "cox6b1",
        "symbol": "COX6B1",
        "hgnc": "HGNC:2280",
        "name": "cytochrome c oxidase subunit 6B1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cox6b1"
      },
      {
        "slug": "fastkd2",
        "symbol": "FASTKD2",
        "hgnc": "HGNC:29160",
        "name": "FASTK mitochondrial RNA regulator 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fastkd2"
      },
      {
        "slug": "gatm",
        "symbol": "GATM",
        "hgnc": "HGNC:4175",
        "name": "glycine amidinotransferase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gatm"
      },
      {
        "slug": "mt-tn",
        "symbol": "MT-TN",
        "hgnc": "HGNC:7493",
        "name": "mitochondrially encoded tRNA-Asn (AAU/C)",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-tn"
      },
      {
        "slug": "mt-ts1",
        "symbol": "MT-TS1",
        "hgnc": "HGNC:7497",
        "name": "mitochondrially encoded tRNA-Ser (UCN) 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-ts1"
      },
      {
        "slug": "pex19",
        "symbol": "PEX19",
        "hgnc": "HGNC:9713",
        "name": "peroxisomal biogenesis factor 19",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex19"
      },
      {
        "slug": "phex",
        "symbol": "PHEX",
        "hgnc": "HGNC:8918",
        "name": "phosphate regulating endopeptidase X-linked",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/phex"
      },
      {
        "slug": "sco1",
        "symbol": "SCO1",
        "hgnc": "HGNC:10603",
        "name": "synthesis of cytochrome C oxidase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sco1"
      },
      {
        "slug": "sco2",
        "symbol": "SCO2",
        "hgnc": "HGNC:10604",
        "name": "synthesis of cytochrome C oxidase 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sco2"
      },
      {
        "slug": "slc2a2",
        "symbol": "SLC2A2",
        "hgnc": "HGNC:11006",
        "name": "solute carrier family 2 member 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc2a2"
      },
      {
        "slug": "slc34a3",
        "symbol": "SLC34A3",
        "hgnc": "HGNC:20305",
        "name": "solute carrier family 34 member 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc34a3"
      },
      {
        "slug": "surf1",
        "symbol": "SURF1",
        "hgnc": "HGNC:11474",
        "name": "SURF1 cytochrome c oxidase assembly factor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/surf1"
      },
      {
        "slug": "taco1",
        "symbol": "TACO1",
        "hgnc": "HGNC:24316",
        "name": "translational activator of cytochrome c oxidase I",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/taco1"
      }
    ]
  }
}