ORPHA:970
Hereditary sensory and autonomic neuropathy type 2
Synonyms: Autosomal recessive sensory radicular neuropathy · HSAN2 · Hereditary sensory and autonomic neuropathy type II · Neurogenic acroosteolysis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare hereditary sensory and autonomic neuropathy characterized by profound and universal sensory loss involving large and small fiber nerves.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary sensory and autonomic neuropathy type 2 | Autosomal recessive sensory radicular neuropathy · HSAN2 · Hereditary sensory and autonomic neuropathy type II · Neurogenic acroosteolysis |
| fr | Neuropathie héréditaire sensitive et autonomique type 2 | Acro-ostéolyse neurogénique · HSAN2 · NHSA2 · Neuropathie radiculaire sensitive autosomique récessive |
| de | Neuropathie, autonome hereditäre sensorische, Typ 2 | Akroosteolyse, neurogene · HSAN2 · Neuropathie, autonome hereditäre sensorische, Typ II · Neuropathie, radikuläre sensorische, autosomal-rezessive |
| es | Neuropatía sensitiva autonómica hereditaria tipo 2 | Acroosteólisis neurogénica · HSAN2 · Neuropatía radicular sensitiva autosómica recesiva · Neuropatía sensitiva autonómica hereditaria tipo II |
| it | Neuropatia sensoriale e autonoma ereditaria tipo 2 | Acro-osteolisi neurogena · HSAN 2 · Neuropatia radicolare sensoriale autosomica recessiva |
| nl | Erfelijke sensorische en autonome neuropathie type 2 | Autosomaal recessieve sensorische radiculaire neuropathie · Erfelijke sensorische en autonome neuropathie type II · HSAN 2 · Neurogene acro-osteolyse |
| pt | Neuropatia sensitiva e autonómica hereditária tipo 2 | Acrosteólise neurogénica · Doença de Morvan · Neuropatia radicular sensitiva forma recessiva |
| pl | Dziedziczna neuropatia czuciowa i autonomiczna typu 2 | HSAN2 · Akroosteoliza neurogenna · Autosomalna recesywna czuciowa neuropatia korzeniowa · Dziedziczna neuropatia czuciowa i autonomiczna typu II |
| cs | Hereditární senzorická a autonomní neuropatie II | HSAN2 · Neurogenní akroosteolýza · HSAN II · Autozomálně recesivní senzorická radikulární neuropatie |
| uk | Спадкова сенсорна та вегетативна нейропатія, тип 2 | Аутосомно-рецесивна сенсорна корінцева нейропатія · Спадкова сенсорна та автономна нейропатія II типу · HSAN2 · Нейрогенний акроостеоліз |
| zh | 遗传性感觉和自主神经病2型 | 遗传性感觉和自主神经病2型 |
| tr | Kalıtsal duyusal ve otonom nöropati tip 2 | HSAN2 · Nörojenik akroosteoliz · Otozomal Çekinik duyusal radiküler nöropati · Kalıtsal duyusal ve otonom nöropati tip II |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 201300 | BTNT | validated | |
| OMIM | 243000 | NTBT | validated | |
| OMIM | 613115 | BTNT | validated | |
| OMIM | 614213 | BTNT | validated | |
| ICD-10 | G60.8 | NTBT | attributed | validated |
| ICD-11 | 8C21.Y | NTBT | index | validated |
| MONDO | 0019941 | E | validated | |
| UMLS | C0020072 | E | validated | |
| GARD | 3976 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KIF1A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:888 | ENSG00000130294 | 601255 | 2q37.3 | kinesin family member 1A | 21089229[PMID] |
| RETREG1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:25964 | ENSG00000154153 | 613114 | 5p15.1 | reticulophagy regulator 1 | 21089229[PMID] |
| SCN9A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10597 | ENSG00000169432 | 603415 | 2q24.3 | sodium voltage-gated channel alpha subunit 9 | 23596073[PMID] |
| WNK1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:14540 | ENSG00000060237 | 605232 | 12p13.33 | WNK lysine deficient protein kinase 1 | 21089229[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 35 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003103 | Abnormal cortical bone morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0003028 | Abnormality of the ankles | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0002815 | Abnormality of the knee | |
| HP:0001842 | Acroosteolysis (feet) | |
| HP:0008391 | Dystrophic fingernails | |
| HP:0001810 | Dystrophic toenail | |
| HP:0000975 | Hyperhidrosis | |
| HP:0003307 | Hyperlordosis | |
| HP:0002797 | Osteolysis | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0001182 | Tapered finger | |
| HP:0002645 | Wormian bones | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/970
- This record as JSON: /data/d/970.json