Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation
Synonyms: Congenital absence of pain with hyperhidrosis · Congenital analgesia with hyperhidrosis · Congenital indifference to pain with hyperhidrosis · Congenital insensitivity to pain with hyperhidrosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare hereditary sensory and autonomic neuropathy characterized by congenital insensitivity to pain, general hypesthesia, diminished temperature sensitivity, and hyperhidrosis. Motor function is preserved. Skin biopsy reveals lack of cutaneous innervation except for sensory and autonomic innervation of blood vessels and sweat glands.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation | Congenital absence of pain with hyperhidrosis · Congenital analgesia with hyperhidrosis · Congenital indifference to pain with hyperhidrosis · Congenital insensitivity to pain with hyperhidrosis |
| fr | Insensibilité congénitale à la douleur-hyperhidrose-absence d'innervation sensorielle cutanée | Analgésie congénitale avec hyperhidrose · Indifférence congénitale à la douleur avec hyperhidrose · Insensibilité congénitale à la douleur avec hyperhidrose |
| de | Kongenitale Schmerzunempfindlichkeit mit Hyperhidrose und Verlust der kutanen sensorischen Innervation | Kongenitale Analgesie mit Hyperhidrose · Kongenitale Schmerzunempfindlichkeit mit Hyperhidrose |
| es | Insensibilidad congénita al dolor-hiperhidrosis-ausencia de inervación sensitiva cutánea | Analgesia congénita con hiperhidrosis · Ausencia congénita de dolor con hiperhidrosis · Indiferencia congénita al dolor con hiperhidrosis · Insensibilidad congénita al dolor con hiperhidrosis |
| it | Insensibilità congenita al dolore-iperidrosi-assenza di innervazione sensoriale della cute | Analgesia congenita con iperidrosi · Assenza congenita di dolore con iperidrosi · Indifferenza congenita al dolore con iperidrosi · Insensibilità congenita al dolore con iperidrosi |
| nl | Congenitale ongevoeligheid voor pijn - hyperhidrose - afwezigheid van sensorische innervatie van huid | Congenitale afwezigheid van pijn met hyperhidrose · Congenitale analgesie met hyperhidrose · Congenitale insensitiviteit voor pijn met hyperhidrose · Congenitale ongevoeligheid voor pijn met hyperhidrose |
| pt | Insensibilidade congénita à dor-hiperhidrose-ausência de enervação cutânea sensorial | Analgesia congénita com hiperhidrose · Ausência de dor congénita com hiperhidrose · Indiferença à dor congénita com hiperhidrose · Insensibilidade à dor congénita com hiperhidrose |
| pl | Wrodzona niewrażliwość na ból z hiperhydrozą | Wrodzona analgezja z hiperhydrozą · Wrodzona obojętność na ból z hiperhydrozą · Wrodzony brak bólu z hiperhydrozą · Wrodzona niewrażliwość na ból-nadmierne pocenie-brak włókien nerwowych C · Wrodzony zespół niewrażliwość na ból, nadmiernej potliwości oraz braku unerwienia czuciowego skóry |
| cs | Vrozená insenzitivita k bolesti s hyperhidrózou a absencí kožní senzorické inervace | Vrozená absence bolesti s hyperhidrózou · Vrozená analgesie s hyperhidrózou · Vrozená netečnost k bolesti s hyperhidrózou |
| uk | Вроджена нечутливість до болю - гіпергідроз - відсутність шкірної сенсорної іннервації | Вроджена відсутність болю при гіпергідрозі · Вроджена аналгезія при гіпергідрозі · Вроджена байдужість до болю при гіпергідрозі · Вроджена нечутливість до болю при гіпергідрозі |
| zh | 先天性痛觉不敏感伴多汗症 | 先天性痛觉不敏感伴多汗症 |
| tr | Hiperhidroz ile seyreden ağrıya doğumsal duyarsızlık | Hiperhidrozlu doğumsal analjezi · Hiperhidroz ile seyreden doğumsal ağrı yokluğu · Hiperhidroz ile seyreden ağrıya doğumsal duyarsızlık |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G60.8 | NTBT | attributed | validated |
| MONDO | 0016319 | E | validated | |
| UMLS | C5679817 | 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:140471Hereditary sensory and autonomic neuropathy
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 19836135[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19836135[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/217399
- This record as JSON: /data/d/217399.json