Autosomal recessive cutis laxa type 2A
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ARCL2A |
| Number of Symptoms | 37 |
| OrphanetNr: | 357058 |
| OMIM Id: |
219200
278250 |
| ICD-10: |
Q82.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal recessive cutis laxa type 2
-Rare abdominal surgical disease -Rare bone disease -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease -Rare skin disease -Rare surgical thoracic disease Congenital disorder of glycosylation with epilepsy as a major feature -Rare genetic disease -Rare neurologic disease Congenital disorder of glycosylation with skin involvement -Rare genetic disease -Rare skin disease Congenital disorder of glycosylation-related bone disorder -Rare developmental defect during embryogenesis -Rare genetic disease Defect in V-ATPase -Rare genetic disease Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000670) | Carious teeth | 145 / 7739 | ||||
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(HPO:0000463) | Anteverted nares | 305 / 7739 | ||||
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(HPO:0000494) | Downslanted palpebral fissures | 328 / 7739 | ||||
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(HPO:0001305) | Dandy-Walker malformation | 79 / 7739 | ||||
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(HPO:0000160) | Narrow mouth | 188 / 7739 | ||||
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(HPO:0000272) | Malar flattening | 277 / 7739 | ||||
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(HPO:0003196) | Short nose | 264 / 7739 | ||||
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(HPO:0000343) | Long philtrum | 262 / 7739 | ||||
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(HPO:0012368) | Flat face | 106 / 7739 | ||||
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(HPO:0002007) | Frontal bossing | 366 / 7739 | ||||
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(HPO:0011800) | Midface retrusion | 221 / 7739 | ||||
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(HPO:0000218) | High palate | 356 / 7739 | ||||
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(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
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(HPO:0000260) | Wide anterior fontanel | 55 / 7739 | ||||
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(HPO:0000486) | Strabismus | 576 / 7739 | ||||
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(HPO:0000545) | Myopia | 286 / 7739 | ||||
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(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0001270) | Motor delay | 322 / 7739 | ||||
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(HPO:0001763) | Pes planus | 176 / 7739 | ||||
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(HPO:0001382) | Joint hypermobility | 231 / 7739 | ||||
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(HPO:0002650) | Scoliosis | 705 / 7739 | ||||
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(HPO:0001374) | Congenital hip dislocation | 51 / 7739 | ||||
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(HPO:0000023) | Inguinal hernia | 181 / 7739 | ||||
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(HPO:0008872) | Feeding difficulties in infancy | 153 / 7739 | ||||
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(HPO:0001511) | Intrauterine growth retardation | 358 / 7739 | ||||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0000973) | Cutis laxa | 43 / 7739 | ||||
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(HPO:0002208) | Coarse hair | 58 / 7739 | ||||
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(HPO:0001582) | Redundant skin | 51 / 7739 | ||||
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(HPO:0003160) | Abnormal isoelectric focusing of serum transferrin | 10 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
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(HPO:0009125) | Lipodystrophy | 54 / 7739 | ||||
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(HPO:0002126) | Polymicrogyria | 64 / 7739 | ||||
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(HPO:0001302) | Pachygyria | 60 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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