Hereditary sensory and autonomic neuropathy type 5
Synonyms: CIP · Congenital insensitivity to pain and thermal analgesia · HSAN5 · Hereditary sensory and autonomic neuropathy type V
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare congenital sensory neuropathy characterized by selective or generalized loss of pain perception and impaired temperature sensitivity, in the absence of other abnormal neurological function. Patients present with variable severity of insensibility to pain and temperature. Self-mutilation of the lips, tongue, and fingers, painless injuries resulting in cuts, bruises, fractures, destroyed joints (Charcot joints) mostly in the knees and and feet are frequentyly observed. Patients have normal motor and sensory nerve conduction. Nerve biopsy typically manifest with reduced/absent small myelinated fibers whereas unmyelinated fibers are usually not affected. Episodic increase in body temperature, skin blotching, decreased sweating, poor wound healing, infections in teeth, joints and bone, neurotrophic keratitis, prematurely aged appearance, with malar hypoplasia, sunken eyes are reported in few patients. Mild intellectual disability may also be present.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary sensory and autonomic neuropathy type 5 | CIP · Congenital insensitivity to pain and thermal analgesia · HSAN5 · Hereditary sensory and autonomic neuropathy type V |
| fr | Neuropathie héréditaire sensitive et autonomique type 5 | HSAN5 · ICD · Insensibilité congénitale à la douleur et analgésie thermique · NHSA5 · Neuropathie héréditaire sensitive et autonomique type V |
| de | Neuropathie, autonome hereditäre sensorische, Typ 5 | HSAN5 · Kongenitale Analgesie mit Thermanästhesie · Neuropathie, autonome hereditäre sensorische, Typ V |
| es | Neuropatía sensitiva autonómica hereditaria tipo 5 | CIP · HSAN5 · Insensibilidad congénita al dolor y analgesia térmica · Neuropatía sensitiva autonómica hereditaria tipo V |
| it | Neuropatia autonomica e sensoriale ereditaria tipo 5 | CIP · HSAN 5 · Insensibilità congenita al dolore e analgesia termica · Neuropatia autonomica e sensoriale ereditaria tipo V |
| nl | Erfelijke sensorische en autonome neuropathie type 5 | CIP · Congenitale pijnongevoeligheid en thermische analgesie · Erfelijke sensorische en autonome neuropathie type V · HSAN 5 |
| pt | Neuropatia autonómica e sensorial hereditária tipo 5 | CIP · HSAN 5 · Insensibilidade congénita à dor e analgesia térmica · Neuropatia autonómica e sensorial hereditária tipo V |
| pl | Dziedziczna neuropatia czuciowa i autonomiczna typu 5 | HSAN5 · Dziedziczna neuropatia czuciowa i autonomiczna typu V · Wrodzona niewrażliwość na ból i temperaturę · Dziedziczna neuropatia czuciowa i autonomiczna typu 5 |
| cs | Hereditární senzorická a autonomní neuropatie, typ 5 | Vrozená necitlivost na bolest a termální analgézie · HSAN5 |
| uk | Спадкова сенсорна та автономна нейропатія, тип 5 | CIP · Вроджена нечутливість до болю та теплової аналгезії · Спадкова сенсорна та автономна нейропатія типу V · HSAN5 |
| zh | 遗传性感觉和自主神经病5型 | 先天性痛觉温度觉不敏感 |
| tr | Kalıtsal duyusal ve otonom nöropati tip 5 | HSAN5 · Kalıtsal duyusal ve otonom nöropati tip V · Ağrı ve termal analjeziye doğumsal duyarsızlık |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608654 | E | validated | |
| ICD-10 | G60.8 | NTBT | attributed | validated |
| ICD-11 | 8C21.3 | E | specific | validated |
| MONDO | 0012092 | E | validated | |
| UMLS | C0020075 | E | validated | |
| GARD | 12328 | 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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NTRK1 | Candidate gene tested in | Not yet assessed | HGNC:8031 | ENSG00000198400 | 191315 | 1q23.1 | neurotrophic receptor tyrosine kinase 1 | 11310631[PMID] |
| NGF | Disease-causing germline mutation(s) in | Assessed | HGNC:7808 | ENSG00000134259 | 162030 | 1p13.2 | nerve growth factor | 14976160[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Point prevalence | <1 / 1 000 000 | 0.035 / 100 000 | Japan | Value and class | Not yet validated | 23495212[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
11 annotations · validated 2018-07-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0000168 | Abnormality of the gingiva | |
| HP:0000970 | Anhidrosis | |
| HP:0007249 | Decreased number of small peripheral myelinated nerve fibers | |
| HP:0000490 | Deeply set eye | |
| HP:0010829 | Impaired temperature sensition | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000272 | Malar flattening | |
| HP:0007021 | Pain insensitivity | |
| HP:0002661 | Painless fractures due to injury | |
| HP:0001058 | Poor wound healing | |
Annotation source: 20978020[PMID]_14976160[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/64752
- This record as JSON: /data/d/64752.json