ORPHA:90349
Autosomal recessive cutis laxa type 1
Synonyms: ARCL1 · Autosomal recessive cutis laxa with severe systemic involvement · Autosomal recessive cutis laxa, pulmonary emphysema type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive cutis laxa type 1 | ARCL1 · Autosomal recessive cutis laxa with severe systemic involvement · Autosomal recessive cutis laxa, pulmonary emphysema type |
| fr | Cutis laxa autosomique récessive type 1 | ARCL1 · Cutis laxa autosomique récessive avec atteinte systémique sévère · Cutis laxa autosomique récessive type emphysème pulmonaire |
| de | Cutis laxa, autosomal-rezessive, Typ 1 | ARCL1 · Cutis laxa, autosomal-rezessive, Lungenemphysem Typ · Cutis laxa, autosomal-rezessive, mit schwerer systemischer Beteiligung |
| es | Cutis laxa autosómica recesiva tipo 1 | ARCL1 · Cutis laxa autosómica recesiva con afectación sistémica grave · Cutis laxa autosómica recesiva tipo enfisema pulmonar |
| it | Cutis laxa autosomica recessiva, tipo 1 | ARCL1 · Cutis laxa autosomica recessiva con coinvolgimento sistemico · Cutis laxa autosomica recessiva, tipo enfisema polmonare |
| nl | Autosomaal recessieve cutis laxa type 1 | ARCL1 · Autosomaal recessieve cutis laxa met ernstige systemische betrokkenheid · Autosomaal recessieve cutis laxa, pulmonaal emfyseem-type |
| pt | Cutis laxa autossómica recessiva tipo 1 | |
| pl | Autosomalna recesywna skóra wiotka typu 1 | Autosomalna recesywna skóra wiotka with severe systemic involvement · ARCL1 · Autosomalna recesywna skóra wiotka z rozedmą płuc |
| cs | Autozomálně recesivní cutis laxa, typ 1 | ARCL1 · Autozomálně recesivní cutis laxa s těžkým systémovým postižením · Autozomálně recesivní cutis laxa, typ plicní emfyzém |
| uk | Аутосомно-рецесивний синдром cutis laxa, тип 1 | ARCL1 · Аутосомно-рецесивний cutis laxa з тяжким системним ураженням · Аутосомно-рецесивний cutis laxa, тип легеневої емфіземи |
| zh | 常染色体隐性遗传皮肤松弛症1型 | 常染色体隐性遗传皮肤松弛症伴严重系统性受累 |
| tr | Otozomal resesif kutis laksa tip 1 | ARCL1 · Otozomal çekinik kutis laksa, pulmoner amfizem tipi · Ağır sistemik tutulumlu otozomal çekinik kutis laksa |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 219100 | BTNT | validated | |
| OMIM | 614437 | BTNT | validated | |
| OMIM | 619446 | BTNT | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD28.2 | NTBT | index | validated |
| MONDO | 0019572 | E | validated | |
| MeSH | C562628 | E | validated | |
| UMLS | C0268351 | E | validated | |
| GARD | 8480 | 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:209Cutis laxa
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare surgical thoracic diseases; rare skin diseases - ORPHA:233655Rare genetic vascular disease
rare genetic diseases; rare circulatory system diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EFEMP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3219 | ENSG00000172638 | 604633 | 11q13.1 | EGF-like fibulin extracellular matrix protein 2 | 16685658[PMID]_19664000[PMID] |
| FBLN5 | Disease-causing germline mutation(s) in | Assessed | HGNC:3602 | ENSG00000140092 | 604580 | 14q32.12 | fibulin 5 | 22829427[PMID] |
| LTBP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6714 | ENSG00000049323 | 150390 | 2p22.3 | latent transforming growth factor beta binding protein 1 | 33991472[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 60 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
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HPO phenotypes
37 annotations · validated 2024-07-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000973 | Cutis laxa | |
| Very frequent (99-80%) | ||
| HP:0010750 | Dermatochalasis | |
| HP:0002097 | Emphysema | |
| HP:0025167 | Fragmented elastic fibers in the dermis | |
| HP:0100679 | Lack of skin elasticity | |
| HP:0001582 | Redundant skin | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001999 | Abnormal facial shape | |
| HP:0011004 | Abnormal systemic arterial morphology | |
| HP:0004426 | Abnormality of the cheek | |
| HP:0000271 | Abnormality of the face | |
| HP:0045027 | Abnormality of the thoracic cavity | |
| HP:0001635 | Congestive heart failure | |
| HP:0100790 | Hernia | |
| HP:0000023 | Inguinal hernia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001382 | Joint hypermobility | |
| HP:0032153 | Joint subluxation | |
| HP:0001270 | Motor delay | |
| HP:0002756 | Pathologic fracture | |
| HP:0004969 | Peripheral pulmonary artery stenosis | |
| HP:0002107 | Pneumothorax | |
| HP:0002093 | Respiratory insufficiency | |
| Occasional (29-5%) | ||
| HP:0030872 | Abnormal cardiac ventricular function | |
| HP:0000929 | Abnormal skull morphology | |
| HP:0002617 | Dilatation | |
| HP:0006698 | Dilatation of the ventricular cavity | |
| HP:0002827 | Hip dislocation | |
| HP:0012619 | Multiple bladder diverticula | |
| HP:0012330 | Pyelonephritis | |
| HP:0002021 | Pyloric stenosis | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0002256 | Small bowel diverticula | |
| HP:0004381 | Supravalvular aortic stenosis | |
| HP:0008722 | Urethral diverticulum | |
| HP:0000076 | Vesicoureteral reflux | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 20301756[PMID]_30422539[PMID]_19401719[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90349
- This record as JSON: /data/d/90349.json