Autosomal recessive cutis laxa type 2B
Synonyms: ARCL2, progeroid type · ARCL2B · Autosomal recessive cutis laxa type 2, progeroid type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive cutis laxa type 2B | ARCL2, progeroid type · ARCL2B · Autosomal recessive cutis laxa type 2, progeroid type |
| fr | Cutis laxa autosomique récessive type 2B | ARCL2 type progéroïde · ARCL2B · Cutis laxa autosomique récessive type 2 progéroïde |
| de | Cutis laxa, autosomal-rezessive, Typ 2B | ARCL2, progeroider Typ · ARCL2B · Cutis laxa, autosomal-rezessive, Typ 2, progeroide |
| es | Cutis laxa autosómica recesiva tipo 2B | ARCL2 tipo progeroide · ARCL2B · Cutis laxa autosómica recesiva tipo 2, tipo progeroide |
| it | Cutis laxa autosomica recessiva, tipo 2B | ARCL2, tipo progeroide · ARCL2B · Cutis laxa autosomica recessiva tipo 2, tipo progeroide |
| nl | Autosomaal recessieve cutis laxa type 2B | ARCL2, progeroïd type · ARCL2B · Autosomaal recessieve cutis laxa type 2, progeroïd type |
| pt | Cutis laxa autossómica recessiva tipo 2B | |
| pl | Autosomalny recesywny zespół luźnej skóry typu 2B | ARCL2, typ progeroidalny · ARCL2B · Autosomalna recesywna luźna skóra typu 2, typ progeroidalny |
| cs | Autozomálně recesivní cutis laxa, typ 2B | ARCL2, progeroidní typ · ARCL2B · Autozomálně recesivní cutis laxa typ 2, progeroidní typ |
| uk | Аутосомно-рецесивний cutis laxa, тип 2B | ARCL2, прогероїдний тип · ARCL2B · Аутосомно-рецесивна форма cutis laxa, тип 2, прогероїдний тип |
| zh | 常染色体隐性皮肤松弛2B型 | 常染色体隐性遗传性皮肤松弛症2型早老型 |
| tr | Otozomal resesif kutis laksa tip 2B | ARCL2B · ARCL2, progeroid türü · Otozomal çekinik kutis laksa tip 2, progeroid tip |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612940 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD28.2 | NTBT | index | validated |
| MONDO | 0013051 | E | validated | |
| MeSH | C567855 | E | validated | |
| UMLS | C2751987 | E | validated | |
| GARD | 1641 | 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:90350Autosomal recessive cutis laxa type 2
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases; rare abdominal surgical diseases; rare surgical thoracic diseases; rare skin diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PYCR1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9721 | ENSG00000183010 | 179035 | 17q25.3 | pyrroline-5-carboxylate reductase 1 | 19576563[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 cases | Worldwide | Case(s) | Validated | 11424136[PMID]_16045708[PMID]_18304158[PMID]_18348262[PMID]_19576563[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 11424136[PMID]_16045708[PMID]_18304158[PMID]_18348262[PMID]_19576563[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/357064
- This record as JSON: /data/d/357064.json