Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Synonyms: ARCL1C · Autosomal recessive cutis laxa type 1C · Urban-Rifkin-Davis syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare, genetic, dermis elastic tissue disorder characterized by generalized cutis laxa associated with severe, usually early-onset, pulmonary emphysema, frequent and severe gastrointestinal and genitourinary involvement (i.e. bladder/intestine diverticula and/or tortuosity, gastrointestinal fragility, hydronephrosis), and mild cardiovascular involvement (typically limited to peripheral pulmonary artery stenosis only).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | ARCL1C · Autosomal recessive cutis laxa type 1C · Urban-Rifkin-Davis syndrome |
| fr | Cutis laxa avec anomalies pulmonaires, gastrointestinales et urinaires sévères | ARCL1C · Cutis laxa autosomique récessive type 1C · Syndrome d'Urban-Rifkin-Davis |
| de | Cutis laxa mit schweren Lungen-, Magen-, Darm- und Harnwegs-Anomalien | ARCL1C · Cutis laxa, autosomal-rezessiv, Typ 1C · URDS · Urban-Rifkin-Davis-Syndrom |
| es | Cutis laxa con anomalías urinarias, gastrointestinales y pulmonares graves | ARCL1C · Cutis laxa autosómica recesiva tipo 1C · Síndrome de Urban-Rifkin-Davis |
| it | Cutis laxa con gravi anomalie polmonari, gastrointestinali e urinarie | |
| nl | Cutis laxa met ernstige pulmonale, gastro-intestinale en urinaire anomalieën | ARCL1C · Autosomaal recessieve cutis laxa type 1C · Syndroom van Urban-Rifkin-Davis |
| pt | Cutis laxa com anomalias graves pulmonares, gastrointestinais e urinárias | |
| pl | Wiotka skóra z ciężkimi anomaliami płucnymi, żołądkowo-jelitowymi i moczowymi | Zespół Urbana, Rifkina i Davisa |
| cs | Volná kůže s těžkými anomáliemi respiračního, gastrointestinálního a močového ústrojí | Urbanův-Rifkinův-Davisové syndrom · Urban-Rifkin-Davisové syndrom |
| uk | Cutis laxa з тяжкими легеневими, шлунково-кишковими та сечовими аномаліями | ARCL1C · Аутосомно-рецесивний cutis laxa тип 1С · Синдром Урбана-Ріфкіна-Девіса |
| zh | 皮肤松弛症伴严重的肺、胃肠和泌尿系统异常 | 常染色体隐性遗传性皮肤松弛症1C型 |
| tr | Ağır pulmoner, gastrointestinal ve üriner anomali ile seyreden kutis laksa | ARCL1C · Urban-Rifkin-Davis sendromu · Otozomal Çekinik kutis laksa tip 1C |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613177 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD28.2 | NTBT | index | validated |
| MONDO | 0013170 | E | validated | |
| MeSH | C567716 | E | validated | |
| UMLS | C2750804 | 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:209Cutis laxa
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare surgical thoracic diseases; rare skin diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LTBP4 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:6717 | ENSG00000090006 | 604710 | 19q13.2 | latent transforming growth factor beta binding protein 4 | 19836010[PMID]_22829427[PMID] |
| LTBP4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6717 | ENSG00000090006 | 604710 | 19q13.2 | latent transforming growth factor beta binding protein 4 | 19836010[PMID]_22829427[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 21 cases | Worldwide | Case(s) | Validated | 26866239[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26866239[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/221145
- This record as JSON: /data/d/221145.json