Autosomal dominant cutis laxa

General Information (adopted from Orphanet):

Synonyms, Signs: ADCL
Number of Symptoms 18
OrphanetNr: 90348
OMIM Id: 123700
614434
ICD-10: Q82.8
UMLs: C0268350
MeSH:
MedDRA:
Snomed: 111388003

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Cutis laxa
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare skin disease
 -Rare surgical thoracic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000271) Abnormality of the face 108 / 7739
2
 (HPO:0000293) Full cheeks Frequent [Orphanet] 85 / 7739
3
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
4
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
5
 (HPO:0000023) Inguinal hernia 181 / 7739
6
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
7
 (HPO:0002256) Small bowel diverticula Frequent [Orphanet] 6 / 7739
8
 (HPO:0001582) Redundant skin Very frequent [Orphanet] 51 / 7739
9
 (HPO:0007495) Prematurely aged appearance Frequent [Orphanet] 44 / 7739
10
 (HPO:0001654) Abnormality of the heart valves Occasional [Orphanet] 49 / 7739
11
 (HPO:0001659) Aortic regurgitation 36 / 7739
12
 (HPO:0001653) Mitral regurgitation 64 / 7739
13
 (HPO:0001641) Abnormality of the pulmonary valve Occasional [Orphanet] 27 / 7739
14
 (HPO:0001646) Abnormality of the aortic valve Occasional [Orphanet] 55 / 7739
15
 (HPO:0002097) Emphysema Occasional [Orphanet] 40 / 7739
16
 (HPO:0009125) Lipodystrophy Frequent [Orphanet] 54 / 7739
17
 (HPO:0001425) Heterogeneous 132 / 7739
18
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: