{ "url": "https://dantelabs.com/ro/genes/hikeshi", "gene": { "slug": "hikeshi", "symbol": "HIKESHI", "name": "heat shock protein nuclear import factor hikeshi", "hgnc": "HGNC:26938", "summary": null, "location": "11q14.2", "locusType": "gene with protein product", "aliases": [ "HSPC138", "HSPC179", "OPI10" ], "previousSymbols": [ "C11orf73" ], "ensemblId": "ENSG00000149196", "entrezId": 51501, "omim": [ "614908" ], "uniprot": [ "Q53FT3" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "11", "start": 86302240, "end": 86345943, "strand": "+", "ensemblTranscript": "ENST00000278483.8", "refseqTranscript": "NM_016401.4", "ensemblProtein": "ENSP00000278483.3", "refseqProtein": "NP_057485.2", "exons": [ { "start": 86302240, "end": 86302478 }, { "start": 86306245, "end": 86306482 }, { "start": 86337379, "end": 86337530 }, { "start": 86344603, "end": 86344721 }, { "start": 86345584, "end": 86345943 } ], "cds": { "start": 86302449, "end": 86345638 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "11", "start": 86013253, "end": 86056969, "strand": "+" }, "neighbourhood": { "release": "116", "start": 85824092, "end": 86824091, "genes": [ { "symbol": "CCDC83", "ensemblId": "ENSG00000150676", "biotype": "protein_coding", "start": 85828907, "end": 85920021, "strand": "+", "slug": "ccdc83" }, { "symbol": "PICALM", "ensemblId": "ENSG00000073921", "biotype": "protein_coding", "start": 85957157, "end": 86069882, "strand": "-", "slug": "picalm" }, { "symbol": "EED", "ensemblId": "ENSG00000074266", "biotype": "protein_coding", "start": 86201212, "end": 86279811, "strand": "+", "slug": "eed" }, { "symbol": "CCDC81", "ensemblId": "ENSG00000149201", "biotype": "protein_coding", "start": 86374736, "end": 86423109, "strand": "+", "slug": "ccdc81" }, { "symbol": "ME3", "ensemblId": "ENSG00000151376", "biotype": "protein_coding", "start": 86438751, "end": 86672636, "strand": "-", "slug": "me3" }, { "symbol": "PRSS23", "ensemblId": "ENSG00000150687", "biotype": "protein_coding", "start": 86791059, "end": 86954151, "strand": "+", "slug": "prss23" } ], "truncated": false }, "reports": [ { "slug": "pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies", "name": "Boala Pelizaeus-Merzbacher și leucodistrofii hipomielinizante", "diseases": [ { "mondoId": "MONDO:0014813", "name": "Leucodistrofia hipomielinizantă 13 (HIKESHI)", "genes": 1, "inheritance": "autosomal-recessive", "description": "O formă ereditară rară de leucodistrofie hipomielinizantă, în care mielina din creier nu se formează normal, provocând întârzierea dezvoltării și probleme de mișcare.", "management": null, "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/ro/conditions/pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies" }, { "slug": "inherited-neurodegenerative-disorders-selected-genes", "name": "Tulburări neurodegenerative ereditare", "diseases": [ { "mondoId": "MONDO:0024237", "name": "Tulburare neurodegenerativă asociată cu KIF5A", "genes": 372, "inheritance": "autosomal-dominant", "description": "Cauzată de modificări ale unei copii a genei KIF5A, care codifică o proteină motorie cu o coadă de legare a cargoului. Diferite tipuri de modificări duc la afecțiuni diferite: paraplegie spastică ereditară de tip 10, o formă axonală a bolii Charcot-Marie-Tooth și scleroza laterală amiotrofică (SLA).", "management": "Tratamentul este simptomatic și depinde de manifestări, incluzând kinetoterapie, medicamente antispastice și îngrijire multidisciplinară pentru SLA. Fiecare copil al unei persoane afectate are o șansă de 1 din 2 de a moșteni modificarea; consilierea genetică ajută familiile să înțeleagă acest lucru.", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/ro/conditions/inherited-neurodegenerative-disorders-selected-genes" }, { "slug": "leukodystrophy", "name": "Alte leucodistrofii ereditare", "diseases": [ { "mondoId": "MONDO:0019046", "name": "Leucodistrofie (alte tipuri și tipuri nespecificate)", "genes": 80, "inheritance": null, "description": "Afecțiuni ereditare care deteriorează sau împiedică formarea normală a mielinei, adică a substanței albe a creierului și a măduvei spinării. Tipurile diferite urmează moștenire autozomal recesivă, autozomal dominantă sau legată de cromozomul X, în funcție de genele implicate.", "management": "Cunoașterea cauzei genetice specifice poate pune capăt unei căutări de diagnostic, poate ghida îngrijirea de susținere și monitorizarea, poate arăta dacă există un tratament specific și poate permite testarea rudelor.", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/ro/conditions/leukodystrophy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-periventricular-white-matter-morphology", "name": "Abnormal periventricular white matter morphology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormal-periventricular-white-matter-morphology" }, { "slug": "absent-speech", "name": "Absent speech development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/absent-speech" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "clonus", "name": "Clonus", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/clonus" }, { "slug": "delayed-brainstem-auditory-evoked-response-conduction-time", "name": "Delayed brainstem auditory evoked response conduction time", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-brainstem-auditory-evoked-response-conduction-time" }, { "slug": "delayed-cns-myelination", "name": "Delayed CNS myelination", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-cns-myelination" }, { "slug": "secondary-microcephaly", "name": "Development of small head that was not present at birth", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/secondary-microcephaly" }, { "slug": "exaggerated-startle-response", "name": "Exaggerated startle response", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/exaggerated-startle-response" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "irritability", "name": "Irritability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/irritability" }, { "slug": "joint-contracture", "name": "Joint contracture", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/joint-contracture" }, { "slug": "leukodystrophy", "name": "Leukodystrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/leukodystrophy" }, { "slug": "axial-hypotonia", "name": "Low muscle tone in trunk", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/axial-hypotonia" }, { "slug": "lower-limb-spasticity", "name": "Lower limb spasticity", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lower-limb-spasticity" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "hypertonia", "name": "Spasticity and rigidity of muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypertonia" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/visual-impairment" }, { "slug": "vomiting", "name": "Vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/vomiting" } ], "related": [ { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 2, "url": "https://dantelabs.com/ro/genes/aars1" }, { "slug": "aars2", "symbol": "AARS2", "name": "alanyl-tRNA synthetase 2, mitochondrial", "shared": 2, "url": "https://dantelabs.com/ro/genes/aars2" }, { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 2, "url": "https://dantelabs.com/ro/genes/abcd1" }, { "slug": "acer3", "symbol": "ACER3", "name": "alkaline ceramidase 3", "shared": 2, "url": "https://dantelabs.com/ro/genes/acer3" }, { "slug": "adar", "symbol": "ADAR", "name": "adenosine deaminase RNA specific", "shared": 2, "url": "https://dantelabs.com/ro/genes/adar" }, { "slug": "aimp1", "symbol": "AIMP1", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1", "shared": 2, "url": "https://dantelabs.com/ro/genes/aimp1" }, { "slug": "aimp2", "symbol": "AIMP2", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2", "shared": 2, "url": "https://dantelabs.com/ro/genes/aimp2" }, { "slug": "aldh3a2", "symbol": "ALDH3A2", "name": "aldehyde dehydrogenase 3 family member A2", "shared": 2, "url": "https://dantelabs.com/ro/genes/aldh3a2" }, { "slug": "arsa", "symbol": "ARSA", "name": "arylsulfatase A", "shared": 2, "url": "https://dantelabs.com/ro/genes/arsa" }, { "slug": "aspa", "symbol": "ASPA", "name": "aspartoacylase", "shared": 2, "url": "https://dantelabs.com/ro/genes/aspa" }, { "slug": "atp11a", "symbol": "ATP11A", "name": "ATPase phospholipid transporting 11A", "shared": 2, "url": "https://dantelabs.com/ro/genes/atp11a" }, { "slug": "clcn2", "symbol": "CLCN2", "name": "chloride voltage-gated channel 2", "shared": 2, "url": "https://dantelabs.com/ro/genes/clcn2" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }