Autosomal recessive cutis laxa type 2A
Synonyms: ARCL2A
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare, genetic, dermis elastic tissue disease characterized by redundant, overfolded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre- and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small, low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia, and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive cutis laxa type 2A | ARCL2A |
| fr | Cutis laxa autosomique récessive type 2A | = en |
| de | Cutis laxa, autosomal-rezessive, Typ 2A | = en |
| es | Cutis laxa autosómica recesiva tipo 2A | = en |
| it | Cutis laxa autosomica recessiva tipo 2A | = en |
| nl | Autosomaal recessieve cutis laxa type 2A | = en |
| pt | Cutis laxa autossómica recessiva tipo 2A | |
| pl | Autosomalna recesywna luźna skóra typu 2A | = en |
| cs | Autozomálně recesivní cutis laxa, typ 2A | = en |
| uk | Аутосомно-рецесивний cutis laxa, тип 2A | = en |
| zh | 常染色体隐性皮肤松弛2A型 | = en |
| tr | Otozomal resesif kutis laksa tip 2A | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 219200 | BTNT | validated | |
| OMIM | 278250 | BTNT | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD28.2 | NTBT | index | validated |
| MONDO | 0018163 | E | validated | |
| MeSH | C562632 | E | validated | |
| UMLS | C0268355 | E | validated | |
| GARD | 1638 | 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 (6):
- 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 - ORPHA:371071Congenital disorder of glycosylation with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - ORPHA:371200Congenital disorder of glycosylation with skin involvement
rare genetic diseases; rare skin diseases - ORPHA:371195Congenital disorder of glycosylation-related bone disorder
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:309778Defect in V-ATPase
rare inborn errors of metabolism; rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
Genes
0 direct · 4 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| ATP6V0A2 | ORPHA:2834Wrinkly skin syndrome | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18481 | ENSG00000185344 | 611716 | 12q24.31 | ATPase H+ transporting V0 subunit a2 | 18157129[PMID] |
| ATP6V0A2 | ORPHA:357074Autosomal recessive cutis laxa type 2, classic type | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18481 | ENSG00000185344 | 611716 | 12q24.31 | ATPase H+ transporting V0 subunit a2 | 20301755[PMID]_19321599[PMID]_18157129[PMID] |
| ATP6V1A | ORPHA:357074Autosomal recessive cutis laxa type 2, classic type | Disease-causing germline mutation(s) in | Assessed | HGNC:851 | ENSG00000114573 | 607027 | 3q13.31 | ATPase H+ transporting V1 subunit A | 28065471[PMID] |
| ATP6V1E1 | ORPHA:357074Autosomal recessive cutis laxa type 2, classic type | Disease-causing germline mutation(s) in | Assessed | HGNC:857 | ENSG00000131100 | 108746 | 22q11.21 | ATPase H+ transporting V1 subunit E1 | 28065471[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 26 cases | Worldwide | Case(s) | Validated | 15657616[PMID]_17971833[PMID]_18716235[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 15657616[PMID]_17971833[PMID]_18716235[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
53 annotations · validated 2020-06-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0025082 | Abnormal cutaneous elastic fiber morphology | |
| HP:0003160 | Abnormal isoelectric focusing of serum transferrin | |
| HP:0007392 | Excessive wrinkled skin | |
| HP:0001263 | Global developmental delay | |
| HP:0011003 | High myopia | |
| HP:0001249 | Intellectual disability | |
| HP:0001382 | Joint hypermobility | |
| HP:0004474 | Persistent open anterior fontanelle | |
| HP:0005328 | Progeroid facial appearance | |
| Frequent (79-30%) | ||
| HP:0002438 | Cerebellar malformation | |
| HP:0000270 | Delayed cranial suture closure | |
| HP:0002376 | Developmental regression | |
| HP:0002198 | Dilated fourth ventricle | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0005445 | Enlarged posterior fossa | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0002197 | Generalized-onset seizure | |
| HP:0001252 | Hypotonia | |
| HP:0000023 | Inguinal hernia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001302 | Pachygyria | |
| HP:0001763 | Pes planus | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0011451 | Primary microcephaly | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0005272 | Prominent nasolabial fold | |
| HP:0005484 | Secondary microcephaly | |
| HP:0011344 | Severe global developmental delay | |
| HP:0000486 | Strabismus | |
| HP:0006891 | Thick cerebral cortex | |
| HP:0100874 | Thick hair | |
| HP:0000260 | Wide anterior fontanel | |
| Occasional (29-5%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0002334 | Abnormality of the cerebellar vermis | |
| HP:0001251 | Ataxia | |
| HP:0002305 | Athetosis | |
| HP:0000592 | Blue sclerae | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0001374 | Congenital hip dislocation | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0006989 | Dysplastic corpus callosum | |
| HP:0001332 | Dystonia | |
| HP:0002007 | Frontal bossing | |
| HP:0002540 | Inability to walk | |
| HP:0000343 | Long philtrum | |
| HP:0001250 | Seizure | |
| HP:0001350 | Slurred speech | |
| HP:0001257 | Spasticity | |
| Very rare (<4-1%) | ||
| HP:0000481 | Abnormal cornea morphology | |
| HP:0000365 | Hearing impairment | |
| HP:0002659 | Increased susceptibility to fractures | |
| Excluded (0%) | ||
| HP:0007957 | Corneal opacity | |
| HP:0000974 | Hyperextensible skin | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 28294978[PMID]_20301755[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/357058
- This record as JSON: /data/d/357058.json