Cerebellar ataxia-deafness-narcolepsy syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: ADCADN
ADCA-DN
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
Number of Symptoms 20
OrphanetNr: 314404
OMIM Id: 604121
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant cerebellar ataxia type 1
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease
Sleep disorder
 -Rare neurologic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000648) Optic atrophy rare [HPO:skoehler] 238 / 7739
2
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
3
 (HPO:0001251) Ataxia 413 / 7739
4
 (HPO:0000716) Depression 99 / 7739
5
 (HPO:0000709) Psychosis rare [HPO:skoehler] 61 / 7739
6
 (HPO:0002189) Excessive daytime sleepiness 8 / 7739
7
 (HPO:0001257) Spasticity 251 / 7739
8
 (HPO:0001347) Hyperreflexia 363 / 7739
9
 (HPO:0002354) Memory impairment 63 / 7739
10
 (HPO:0002476) Primitive reflex 9 / 7739
11
 (HPO:0000726) Dementia 131 / 7739
12
 (HPO:0002524) Cataplexy 8 / 7739
13
 (OMIM) Limb lymphedema (in some patients) 1 / 7739
14
 (HPO:0030050) Narcolepsy 6 / 7739
15
 (HPO:0003676) Progressive disorder 148 / 7739
16
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
17
 (HPO:0001272) Cerebellar atrophy 197 / 7739
18
 (OMIM) Sensorimotor polyneuropathy 2 / 7739
19
 (OMIM) REM sleep behavior disorder 1 / 7739
20
 (OMIM) Decreased CSF hypocretin 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) ADCADN is an autosomal dominant neurologic disorder characterized by adult onset of progressive cerebellar ataxia, narcolepsy/cataplexy, sensorineural deafness, and dementia. More variable features include optic atrophy, sensory neuropathy, psychosis, and depression (summary by Winkelmann et al., 2012).
Clinical Description OMIM Melberg et al. (1995) reported a 4-generation Swedish pedigree in which 5 individuals had cerebellar ataxia and sensorineural deafness. Four of the 5 patients also had narcolepsy. Among the 4, 2 had diabetes mellitus which was present in ...
Molecular genetics OMIM In affected members of 4 families with autosomal dominant cerebellar ataxia, deafness, and narcolepsy, Winkelmann et al. (2012) identified 3 different heterozygous mutations in exon 21 of the DNMT1 gene (126375.0003-126375.0005). The first mutations were identified by exome ...