Hereditary sensory neuropathy-deafness-dementia syndrome
Synonyms: HSAN1E · HSN1E · Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
A rare genetic neurological disorder characterized by sensorineural hearing loss, sensory neuropathy, behavioral abnormalities, and dementia. Occurrence of seizures has also been reported. Age of onset is between adolescence and adulthood. The disease is progressive, with fatal outcome typically in the fifth to sixth decade.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary sensory neuropathy-deafness-dementia syndrome | HSAN1E · HSN1E · Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome |
| fr | Syndrome de neuropathie sensorielle-surdité-démence | HSAN1E · HSN1E · Neuropathie sensorielle héréditaire type 1E · Syndrome de neuropathie sensorielle-surdité neurosensorielle-démence |
| de | Hereditäre sensorische Neuropathie-sensorineurale Schwerhörigkeit-Demenz-Syndrom | HSAN1E · HSN1E |
| es | Síndrome hereditario de neuropatía sensitiva-sordera-demencia | HSAN1E · HSN1E · Síndrome hereditario de neuropatía sensitiva-hipoacusia neurosensorial-demencia |
| it | Sindrome ereditaria neuropatia sensoriale-sordità-demenza | HSAN1E · HSN1E · Sindrome ereditaria demenza-sordità neurosensoriale-neuropatia sensoriale |
| nl | Erfelijke sensorische neuropathie - doofheid - dementie-syndroom | Erfelijke sensorische neuropathie - sensorineuraal gehoorverlies - dementie-syndroom · HSAN1E · HSN1E |
| pt | Síndrome de neuropatia sensitiva hereditária-surdez-demência | |
| pl | Zespół dziedzicznej czuciowej neuropatii, głuchoty i demencji | HSAN1E · HSN1E · Zespół dziedzicznej czuciowej neuropatii, czuciowo-nerwowej utraty słuchu i demencji |
| cs | Syndrom zahrnující hereditární senzorickou neuropatii, hluchotu a demenci | HSAN1E · HSN1E · Syndrom zahrnující hereditární senzorickou neuropatii, senzorineurální ztrátu sluchu a demenci |
| uk | Синдром спадкової сенсорної нейропатії-глухоти-деменції | Синдром спадкової сенсорної нейропатії - сенсоневральної приглухуватості - деменції · HSAN1E · HSN1E |
| zh | 遗传性感觉神经疾病-耳聋-痴呆综合征 | 遗传性感觉神经病-感觉神经性听力减退-痴呆综合征 |
| tr | Kalıtsal duyusal nöropati-sağırlık-demans sendromu | HSN1E · HSAN1E · Kalıtsal duyusal nöropati-sensörinöral işitme kaybı-demans sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614116 | E | validated | |
| ICD-10 | G60.8 | NTBT | attributed | validated |
| MONDO | 0013584 | E | validated | |
| MeSH | C580162 | E | validated | |
| UMLS | C3279885 | E | validated | |
| GARD | 11927 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:140474Autosomal dominant hereditary sensory and autonomic neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:276058Genetic neurodegenerative disease with dementia
rare genetic diseases - ORPHA:98534Neurodegenerative disease with dementia
rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DNMT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2976 | ENSG00000130816 | 126375 | 19p13.2 | DNA methyltransferase 1 | 21532572[PMID]_23365052[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 families | Worldwide | Family(ies) | Validated | 23365052[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23365052[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/456318
- This record as JSON: /data/d/456318.json