Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
Synonyms: POIKTMP syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy
- Status
- active
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome | POIKTMP syndrome |
| fr | Syndrome de poïkilodermie héréditaire fibrosante-myopathie rétractile-fibrose pulmonaire | Syndrome POIKTMP |
| de | Hereditäre fibröse Poikilodermie-Sehnenkontraktur-Myopathie-Lungenfibrose-Syndrom | POIKTMP-Syndrom |
| es | Síndrome de poiquilodermia fibrosante hereditaria-contracturas tendinosas-miopatía-fibrosis pulmonar | Síndrome POIKTMP |
| it | Sindrome ereditaria da poichilodermia fibrosante, contratture tendinee, miopatia e fibrosi polmonare | |
| nl | Erfelijke fibroserende poikilodermie - peescontracturen - myopathie - longfibrose-syndroom | POIKTMP-syndroom |
| pt | Síndrome de poiquilodermia fibrosante hereditária-contraturas-miopatia-fibrose pulmonar | |
| pl | Dziedziczna poikilodermia stwardniająca z przykurczami ścięgien, miopatią i zwłóknieniem płuc | = en |
| cs | Hereditární sklerozující poikilodermie s účastí šlach a plic | = en |
| uk | Синдром спадкової фіброзуючої пойкілодермії-сухожильних контрактур-міопатії-легеневого фіброзу | Синдром POIKTMP |
| zh | 遗传性纤维化皮肤异色病-肌腱挛缩-肌病-肺纤维化综合征 | 皮肤异色病-肌腱挛缩-肌病-肺纤维化综合征 |
| tr | Kalıtsal fibrozan poikiloderma-tendon kontraktürleri-miyopati-pulmoner fibrozis sendromu | POIKTMP sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615704 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC10 | NTBT | index | validated |
| MONDO | 0014310 | E | validated | |
| UMLS | C4749823 | E | validated | |
| GARD | 13218 | 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 (4):
- ORPHA:264992Genetic interstitial lung disease
rare genetic diseases - ORPHA:222628Hereditary poikiloderma
rare genetic diseases; rare skin diseases - ORPHA:206656Non-dystrophic myopathy
rare genetic diseases; rare neurological diseases - ORPHA:264740Primary interstitial lung disease specific to adulthood
rare respiratory diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FAM111B | Disease-causing germline mutation(s) in | Assessed | HGNC:24200 | ENSG00000189057 | 615584 | 11q12.1 | FAM111 trypsin like peptidase B | 24268661[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26471370[PMID] |
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 26471370[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/221043
- This record as JSON: /data/d/221043.json