Hereditary sensory and autonomic neuropathy type 8
Synonyms: HSAN8 · Hereditary sensory and autonomic neuropathy type VIII
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by congenital impaired sensation of acute or inflammatory pain in combination with an inability to identify noxious heat or cold, leading to numerous painless mutilating lesions and injuries. Further manifestations are absence of corneal reflexes resulting in corneal scarring, reduced sweating and tearing, and recurrent skin infections. Large-fiber sensory modalities such as light touch, vibration, and proprioception are normal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary sensory and autonomic neuropathy type 8 | HSAN8 · Hereditary sensory and autonomic neuropathy type VIII |
| fr | Neuropathie héréditaire sensitive et autonomique type 8 | HSAN8 · NHSA8 · Neuropathie héréditaire sensitive et autonomique type VIII |
| de | Kongenitale Schmerzunempfindlichkeit-Hypohidrose-Syndrom | CIP-Hypohidrose-Syndrom · HSAN Typ VIII · HSAN8 · Neuropathie, autonome hereditäre sensorische, Typ 8 |
| es | Neuropatía sensitiva autonómica hereditaria tipo 8 | HSAN8 · Neuropatía sensitiva autonómica hereditaria tipo VIII · Síndrome de CIP-hipohidrosis · Síndrome de insensibilidad congénita al dolor-hipohidrosis |
| it | Neuropatia sensoriale e autonoma ereditaria tipo 8 | |
| nl | Erfelijke sensorische en autonome neuropathie type 8 | HSAN8 · Erfelijke sensorische en autonome neuropathie type VIII |
| pt | Neuropatia sensitiva e autonómica hereditária tipo 8 | Síndrome de insensibilidade à dor-hipohidrose congénita |
| pl | Zespół wrodzonej niewrażliwości na ból i hipohydrozy | Dziedziczna neuropatia czuciowa i autonomiczna typu VIII · Dziedziczna neuropatia czuciowa i autonomiczna typu 8 · HSAN8 · Zespół CIP i hipohydrozy |
| cs | Hereditání senzorická a autonomní neuropatie, typ 8 | HSAN8 · Hereditary sensory and autonomic neuropathy type VIII · Dědičná senzorická a autonomní neuropatie typu VIII |
| uk | Спадкова сенсорна та автономна нейропатія, тип 8 | Спадкова сенсорна та автономна нейропатія VIII типу · HSAN8 |
| zh | 遗传性感觉和自主神经病8型 | Hereditary sensory and autonomic neuropathy type VIII |
| tr | Kalıtsal duyusal ve otonom nöropati tip 8 | HSAN8 · Kalıtsal duyusal ve otonom nöropati tip VIII |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616488 | E | validated | |
| ICD-10 | G60.8 | NTBT | attributed | validated |
| MONDO | 0014662 | E | validated | |
| MONDO | 14662 | E | validated | |
| UMLS | C4225308 | 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 (1):
- ORPHA:140477Autosomal recessive hereditary sensory and autonomic neuropathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRDM12 | Disease-causing germline mutation(s) in | Assessed | HGNC:13997 | ENSG00000130711 | 616458 | 9q34.12 | PR/SET domain 12 | 26005867[PMID]_26975306[PMID]_28050684[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 families | Worldwide | Family(ies) | Validated | 26005867[PMID]_26975306[PMID]_28050684[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26005867[PMID]_26975306[PMID]_28050684[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/478664
- This record as JSON: /data/d/478664.json