ORPHA:453510
Congenital insensitivity to pain with severe intellectual disability
Synonyms: Congenital absence of pain with severe intellectual disability · Congenital analgesia with severe intellectual disability · Congenital insensitivity to pain with preserved temperature sensation · Congenital insensitivity to pain with severe non-progressive cognitive delay
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Congenital insensitivity to pain with severe intellectual disability is a rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by the complete absence of pain perception from birth, an unresponsiveness to soft touch, severe non-progressive cognitive delay, and normal motor movement/behavior and strength. Affected cases retained hot and cold perception.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital insensitivity to pain with severe intellectual disability | Congenital absence of pain with severe intellectual disability · Congenital analgesia with severe intellectual disability · Congenital insensitivity to pain with preserved temperature sensation · Congenital insensitivity to pain with severe non-progressive cognitive delay |
| fr | Insensibilité congénitale à la douleur avec déficience intellectuelle sévère | Analgésie congénitale avec déficience intellectuelle sévère · Insensibilité congénitale à la douleur avec préservation de la sensibilité thermique |
| de | Kongenitale Schmerzunempfindlichkeit mit schwerer Intelligenzminderung | Kongenitale Analgesie mit schwerer Intelligenzminderung · Kongenitale Schmerzunempfindlichkeit mit erhaltener Temperaturempfindung · Kongenitale Schmerzunempfindlichkeit mit schwerer non-progressiver kognitiver Entwicklungsverzögerung |
| es | Insensibilidad congénita al dolor con discapacidad intelectual grave | Analgesia congénita con discapacidad intelectual grave · Ausencia de dolor congénito con discapacidad intelectual grave · Insensibilidad congénita al dolor con preservación de la sensación térmica · Insensibilidad congénita al dolor con retraso cognitivo grave no progresivo |
| it | Insensibilità congenita al dolore con disabilità intellettiva grave | Analgesia congenita con disabilità cognitiva grave · Assenza di dolore congenita con disabilità cognitiva grave · Insensibilità congenita al dolore con conservazione della sensibilità termica · Insensibilità congenita al dolore con ritardo cognitivo grave non progressivo |
| nl | Congenitale ongevoeligheid voor pijn met ernstige intellectuele achterstand | Conenitale analgesie met ernstige intellectuele achterstand · Congenitale afwezigheid van pijn met ernstige intellectuele achterstand · Congenitale insensitiviteit voor pijn met ernstige niet-progressieve cognitieve achterstand · Congenitale ongevoeligheid voor pijn met behouden temperatuursensatie |
| pt | Insensibilidade congénita à dor com perturbação do desenvolvimento intelectual grave | |
| pl | Wrodzona niewrażliwość na ból z głęboką niepełnosprawnością intelektualną | Wrodzona analgezja z głęboką niepełnosprawnością intelektualną · Wrodzona niewrażliwość na ból z ciężkimi niepostępującymi zaburzeniami poznawczymi · Wrodzona niewrażliwość na ból z zachowanym czuciem temperatury · Wrodzony brak czucia bólu z głęboką niepełnosprawnością intelektualną |
| cs | Vrozená necitlivost pro bolest s těžkou mentální retardací | Vrozená necitlivost pro bolest se zachovanou citlivostí pro teplo · Vrozená absence bolesti s těžkou mentální retardací · Vrozená analgezie s těžkou mentální retardací · Vrozená necitlivost pro bolest s těžkým neprogresivním kognitivním opožděním |
| uk | Вроджена нечутливість до болю з тяжкими порушеннями інтелекту | Вроджена відсутність болю при тяжких інтелектуальних порушеннях · Вроджена аналгезія з тяжкою інтелектуальною недостатністю · Вроджена нечутливість до болю зі збереженим температурним відчуттям · Вроджена нечутливість до болю з тяжкою непрогресуючою когнітивною затримкою |
| zh | 先天性痛觉不敏感合并严重智力障碍 | 先天性痛觉不敏感合并严重非进展性智力障碍 |
| tr | Ağır zihinsel yetersizlik ile seyreden doğumsal ağrı duyarsızlığı | Ağır zihinsel yetersizlik ile seyreden doğumsal analjezi · Ağır zihinsel yetersizlik ile seyreden doğumsal ağrı yokluğu · Korunmuş sıcaklık hissi ile seyreden ağrıya doğumsal duyarsızlık · Ağır ilerleyici olmayan bilişsel gecikme ile seyretmeyen ağrıya doğumsal duyarsızlık |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G60.8 | NTBT | attributed | not yet validated |
| MONDO | 0018682 | E | validated | |
| UMLS | C5679994 | 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 (2):
- ORPHA:140477Autosomal recessive hereditary sensory and autonomic neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CLTCL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2093 | ENSG00000070371 | 601273 | 22q11.21 | clathrin heavy chain like 1 | 26068709[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 26068709[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26068709[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.
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HPO phenotypes
29 annotations · validated 2019-12-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0008000 | Decreased corneal reflex | |
| HP:0002188 | Delayed CNS myelination | |
| HP:0010830 | Impaired tactile sensation | |
| HP:0000491 | Keratitis | |
| HP:0002754 | Osteomyelitis | |
| HP:0007021 | Pain insensitivity | |
| HP:0002757 | Recurrent fractures | |
| HP:0000742 | Self-mutilation | |
| HP:0011344 | Severe global developmental delay | |
| HP:0001328 | Specific learning disability | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0008780 | Congenital bilateral hip dislocation | |
| HP:0200020 | Corneal erosion | |
| HP:0000324 | Facial asymmetry | |
| HP:0008947 | Floppy infant | |
| HP:0009826 | Limb undergrowth | |
| HP:0000347 | Micrognathia | |
| HP:0010841 | Multifocal epileptiform discharges | |
| HP:0011470 | Nasogastric tube feeding in infancy | |
| HP:0001562 | Oligohydramnios | |
| HP:0000448 | Prominent nose | |
| HP:0001838 | Rocker bottom foot | |
| HP:0012044 | Seesaw nystagmus | |
| HP:0012745 | Short palpebral fissure | |
| HP:0001518 | Small for gestational age | |
| HP:0001772 | Talipes equinovalgus | |
| HP:0002982 | Tibial bowing | |
Annotation source: 29419974[PMID]_26068709[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/453510
- This record as JSON: /data/d/453510.json