ORPHA:653728
Congenital insensitivity to pain syndrome, Marsili type
Synonyms: Marsili syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital insensitivity to pain syndrome, Marsili type | Marsili syndrome |
| fr | Syndrome congénital d'insensibilité à la douleur type Marsili | Syndrome de Marsili |
| de | Kongenitale Schmerzunempfindlichkeit Typ Marsili | Marsili-Syndrom |
| es | Síndrome de insensibilidad congénita al dolor, tipo Marsili | Síndrome de Marsili |
| it | Sindrome da insensibilità congenita al dolore, tipo Marsili | Sindrome di Marsili |
| nl | Congenitale ongevoeligheid voor pijn-syndroom, Marsili-type | Marsili-syndroom |
| pt | Síndrome de insensibilidade congénita à dor, tipo Marsili | Síndrome Marsili |
| pl | Zespół wrodzonej niewrażliwości na ból typu Marsiliego | = en |
| cs | Vrozená necitlivost na bolest, Marsiliho typ | = en |
| uk | Вроджена нечутливість до больового синдрому, тип Марсілі | Синдром Марсілі |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 147430 | E | validated | |
| ICD-10 | G90.8 | NTBT | attributed | validated |
| MONDO | 0958106 | E | validated | |
| MONDO | 958106 | E | validated | |
| UMLS | C4538468 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:140474Autosomal dominant hereditary sensory and autonomic neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:140477Autosomal recessive hereditary sensory and autonomic neuropathy
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ZFHX2 | Disease-causing germline mutation(s) in | Assessed | HGNC:20152 | ENSG00000136367 | 617828 | 14q11.2 | zinc finger homeobox 2 | 29253101[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 36 cases | Worldwide | Case(s) | Validated | 29419974[PMID]_29253101[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 29419974[PMID]_29253101[PMID]_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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/653728
- This record as JSON: /data/d/653728.json