Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandCerebellar Ataxia (D002524)
Parent Node:
expandHearing Loss, Sensorineural (D006319)
Parent Node:
expandNarcolepsy (D009290)
..Starting node
..expandCerebellar Ataxia, Deafness, and Narcolepsy (C565825)

       Child Nodes:



 Sister Nodes: 
..expandCataplexy (D002385)
..expandCerebellar Ataxia, Deafness, and Narcolepsy (C565825)
..expandDisseminated Sclerosis with Narcolepsy (C565621)
..expandIrresistible sleepiness, cataplexy and onset of sleep in desynchronized phase (C538497)
..expandNarcolepsy 1 (C563534)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:1919
Name:Cerebellar Ataxia, Deafness, and Narcolepsy
Definition:
Alternative IDs:
ParentIDs:MESH:D002524|MESH:D006319|MESH:D009290
TreeNumbers:C09.218.458.341.887/C565825 |C10.228.140.252.190/C565825 |C10.597.350.090.500/C565825 |C10.597.751.418.341.887/C565825 |C10.886.425.800.200.750/C565825 |C23.888.592.350.090.200/C565825 |C23.888.592.763.393.341.887/C565825 |F03.870.400.800.200.750/C565825
Synonyms:
Slim Mappings:Ear-nose-throat disease|Mental disorder|Nervous system disease|Signs and symptoms
Reference: MedGen: C565825
MeSH: C565825
OMIM: 604121;

Genes: DNMT1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003581Adult onset
3 HP:0001251Ataxia
4 HP:0002524Cataplexy
5 HP:0001272Cerebellar atrophy
6 HP:0000726Dementia
7 HP:0000716Depression
8 HP:0001347Hyperreflexia
9 HP:0002354Memory impairment
10 HP:0030050Narcolepsy
11 HP:0002189obsolete Excessive daytime sleepiness
12 HP:0000648Optic atrophyHP:0040283
13 HP:0002476Primitive reflex
14 HP:0003676Progressive
15 HP:0000709PsychosisHP:0040283
16 HP:0000407Sensorineural hearing impairment
17 HP:0001257Spasticity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_001130823.2(DNMT1):c.1816G>T (p.Val606Phe)1786DNMT1Pathogenic397509391RCV000043631; NMedGen:C1858804,OMIM:604121191026527810265278NM_001130823.2:c.1816G>TNP_001124295.1:p.Val606PheNC_000019.9:g.10265278C>AOMIM Allelic Variant:126375.0003C1858804 604121 Cerebellar ataxia, deafness, and narcolepsy
NM_001130823.2(DNMT1):c.1814G>C (p.Gly605Ala)1786DNMT1Pathogenic397509393RCV000043633; NMedGen:C1858804,OMIM:604121191026528010265280NM_001130823.2:c.1814G>CNP_001124295.1:p.Gly605AlaNC_000019.9:g.10265280C>GOMIM Allelic Variant:126375.0005C1858804 604121 Cerebellar ataxia, deafness, and narcolepsy
NM_001130823.2(DNMT1):c.1709C>T (p.Ala570Val)1786DNMT1Pathogenic397509392RCV000043632; NMedGen:C1858804,OMIM:604121191026538510265385NM_001130823.2:c.1709C>TNP_001124295.1:p.Ala570ValNC_000019.9:g.10265385G>AOMIM Allelic Variant:126375.0004C1858804 604121 Cerebellar ataxia, deafness, and narcolepsy