ORPHA:90348
Autosomal dominant cutis laxa
Synonyms: ADCL
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant cutis laxa | ADCL |
| fr | Cutis laxa autosomique dominante | = en |
| de | Cutis laxa, autosomal-dominante | = en |
| es | Cutis laxa autosómica dominante | = en |
| it | Cutis laxa autosomica dominante | = en |
| nl | Autosomaal dominante cutis laxa | = en |
| pt | Cutis laxa autossómica dominante | |
| pl | Autosomalna dominująca skóra wiotka | = en |
| cs | Autozomálně dominantní cutis laxa | = en |
| uk | Аутосомно-домінантна cutis laxa | = en |
| zh | 常染色体显性皮肤松弛症 | = en |
| tr | Otozomal dominant kutis laksa | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 123700 | BTNT | validated | |
| OMIM | 614434 | BTNT | validated | |
| OMIM | 616603 | BTNT | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD28.2 | NTBT | index | validated |
| MONDO | 0019571 | E | validated | |
| MeSH | C562627 | E | validated | |
| UMLS | C0268350 | E | validated | |
| GARD | 1639 | 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 (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.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALDH18A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9722 | ENSG00000059573 | 138250 | 10q24.1 | aldehyde dehydrogenase 18 family member A1 | 26320891[PMID] |
| ELN | Disease-causing germline mutation(s) in | Assessed | HGNC:3327 | ENSG00000049540 | 130160 | 7q11.23 | elastin | 16085695[PMID]_18348261[PMID] |
| FBLN5 | Disease-causing germline mutation(s) in | Assessed | HGNC:3602 | ENSG00000140092 | 604580 | 14q32.12 | fibulin 5 | 12618961[PMID]_20301756[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 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.
6
HPO phenotypes
59 annotations · validated 2021-10-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000973 | Cutis laxa | |
| HP:0025167 | Fragmented elastic fibers in the dermis | |
| HP:0000974 | Hyperextensible skin | |
| HP:0007522 | Increased number of skin folds | |
| HP:0100678 | Premature skin wrinkling | |
| HP:0001582 | Redundant skin | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0010674 | Abnormality of the curvature of the vertebral column | |
| HP:0004942 | Aortic aneurysm | |
| HP:0001659 | Aortic regurgitation | |
| HP:0100790 | Hernia | |
| HP:0000023 | Inguinal hernia | |
| HP:0001382 | Joint hypermobility | |
| HP:0001653 | Mitral regurgitation | |
| HP:0007495 | Prematurely aged appearance | |
| Occasional (29-5%) | ||
| HP:0001181 | Adducted thumb | |
| HP:0000015 | Bladder diverticulum | |
| HP:0001348 | Brisk reflexes | |
| HP:0000337 | Broad forehead | |
| HP:0002110 | Bronchiectasis | |
| HP:0011950 | Bronchiolitis | |
| HP:0001680 | Coarctation of aorta | |
| HP:0001635 | Congestive heart failure | |
| HP:0007957 | Corneal opacity | |
| HP:0000270 | Delayed cranial suture closure | |
| HP:0010648 | Dermal translucency | |
| HP:0000519 | Developmental cataract | |
| HP:0006698 | Dilatation of the ventricular cavity | |
| HP:0002097 | Emphysema | |
| HP:0011968 | Feeding difficulties | |
| HP:0001263 | Global developmental delay | |
| HP:0002827 | Hip dislocation | |
| HP:0001252 | Hypotonia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0100512 | Low levels of vitamin D | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0001270 | Motor delay | |
| HP:0004969 | Peripheral pulmonary artery stenosis | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0011220 | Prominent forehead | |
| HP:0000411 | Protruding ear | |
| HP:0000508 | Ptosis | |
| HP:0012330 | Pyelonephritis | |
| HP:0005989 | Redundant neck skin | |
| HP:0002650 | Scoliosis | |
| HP:0002256 | Small bowel diverticula | |
| HP:0000486 | Strabismus | |
| HP:0000325 | Triangular face | |
| Very rare (<4-1%) | ||
| HP:0000729 | Autistic behavior | |
| HP:0002816 | Genu recurvatum | |
| HP:0000938 | Osteopenia | |
| HP:0001763 | Pes planus | |
| HP:0002677 | Small foramen magnum | |
| HP:0001884 | Talipes calcaneovalgus | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000122 | Unilateral renal agenesis | |
| HP:0002013 | Vomiting | |
| HP:0002645 | Wormian bones | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 33509220[PMID]_32859844[PMID]_20301756[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90348
- This record as JSON: /data/d/90348.json