{ "url": "https://dantelabs.com/de/genes/pdyn", "gene": { "slug": "pdyn", "symbol": "PDYN", "name": "prodynorphin", "hgnc": "HGNC:8820", "summary": null, "location": "20p13", "locusType": "gene with protein product", "aliases": [ "PENKB", "ADCA" ], "previousSymbols": [ "SCA23" ], "ensemblId": "ENSG00000101327", "entrezId": 5173, "omim": [ "131340" ], "uniprot": [ "P01213" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "20", "start": 1978759, "end": 1994058, "strand": "-", "ensemblTranscript": "ENST00000217305.3", "refseqTranscript": "NM_024411.5", "ensemblProtein": "ENSP00000217305.2", "refseqProtein": "NP_077722.1", "exons": [ { "start": 1978759, "end": 1980958 }, { "start": 1982956, "end": 1983103 }, { "start": 1992584, "end": 1992643 }, { "start": 1993911, "end": 1994058 } ], "cds": { "start": 1980323, "end": 1983084 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "20", "start": 1959403, "end": 1974732, "strand": "-" }, "neighbourhood": { "release": 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"autosomal-dominant-cerebellar-ataxias", "name": "Autosomal-dominante zerebelläre Ataxien (SCAs und DRPLA)", "diseases": [ { "mondoId": "MONDO:0020380", "name": "Autosomal-dominante zerebelläre Ataxie", "genes": 36, "inheritance": "autosomal-dominant", "description": "Eine Gruppe dominant vererbter Ataxien, darunter SCA1, SCA2, SCA3 (Machado-Joseph-Krankheit), SCA6, SCA7, SCA17, SCA27B und DRPLA, die durch Repeat-Expansionen oder Punktvarianten in Genen wie ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 und FGF14 verursacht werden.", "management": "Genetische Beratung und präsymptomatische Testung für Verwandte, Physiotherapie und Symptombehandlung; einige Formen, etwa SCA27B, können auf bestimmte Medikamente ansprechen.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/de/conditions/autosomal-dominant-cerebellar-ataxias" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "agenesis-of-corpus-callosum", "name": "Agenesis of corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum" }, { "slug": "babinski-sign", "name": "Babinski sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/babinski-sign" }, { "slug": "cns-demyelination", "name": "CNS demyelination", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cns-demyelination" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "impaired-distal-proprioception", "name": "Impaired distal proprioception", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impaired-distal-proprioception" }, { "slug": "impaired-distal-vibration-sensation", "name": "Impaired distal vibration sensation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impaired-distal-vibration-sensation" }, { "slug": "impaired-proprioception", "name": "Impaired proprioception", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impaired-proprioception" }, { "slug": "impaired-vibration-sensation-in-the-lower-limbs", "name": "Impaired vibration sensation in the lower limbs", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impaired-vibration-sensation-in-the-lower-limbs" }, { "slug": "gait-ataxia", "name": "Inability to coordinate movements when walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/gait-ataxia" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "dysmetria", "name": "Lack of coordination of movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysmetria" }, { "slug": "limb-ataxia", "name": "Limb ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/limb-ataxia" }, { "slug": "neuronal-loss-in-central-nervous-system", "name": "Loss of brain cells", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/neuronal-loss-in-central-nervous-system" }, { "slug": "sensorimotor-neuropathy", "name": "Nerve damage causing decreased feeling and movement", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/sensorimotor-neuropathy" }, { "slug": "polyneuropathy", "name": "Peripheral nerve disease", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/polyneuropathy" }, { "slug": "progressive-cerebellar-ataxia", "name": "Progressive cerebellar ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/progressive-cerebellar-ataxia" }, { "slug": "slow-saccadic-eye-movements", "name": "Slow eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/slow-saccadic-eye-movements" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tremor" }, { "slug": "dysmetric-saccades", "name": "Uncoordinated eye movement", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysmetric-saccades" } ], "related": [ { "slug": "afg3l2", "symbol": "AFG3L2", "name": "AFG3 like matrix AAA peptidase subunit 2", "shared": 1, "url": "https://dantelabs.com/de/genes/afg3l2" }, { "slug": "atn1", "symbol": "ATN1", "name": "atrophin 1", "shared": 1, "url": "https://dantelabs.com/de/genes/atn1" }, { "slug": "atp1a3", "symbol": "ATP1A3", "name": "ATPase Na+/K+ transporting subunit alpha 3", "shared": 1, "url": "https://dantelabs.com/de/genes/atp1a3" }, { "slug": "atxn1", "symbol": "ATXN1", "name": "ataxin 1", "shared": 1, "url": "https://dantelabs.com/de/genes/atxn1" }, { "slug": "atxn10", "symbol": "ATXN10", "name": "ataxin 10", "shared": 1, "url": 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"https://dantelabs.com/de/genes/camta1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }