Ehlers-Danlos syndrome, cardiac valvular type

General Information (adopted from Orphanet):

Synonyms, Signs: EDS, cardiac valvular type
Number of Symptoms 19
OrphanetNr: 230851
OMIM Id: 225320
ICD-10: Q79.6
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Ehlers-Danlos syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
 -Rare systemic or rheumatologic disease
Rare syndrome with cardiac malformations
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001848) Calcaneovalgus deformity 12 / 7739
2
 (HPO:0001763) Pes planus 176 / 7739
3
 (HPO:0000767) Pectus excavatum 244 / 7739
4
 (HPO:0002816) Genu recurvatum 30 / 7739
5
 (HPO:0001388) Joint laxity 117 / 7739
6
 (HPO:0000023) Inguinal hernia 181 / 7739
7
 (HPO:0000978) Bruising susceptibility 123 / 7739
8
 (HPO:0000963) Thin skin 96 / 7739
9
 (HPO:0000974) Hyperextensible skin 59 / 7739
10
 (HPO:0001075) Atrophic scars 15 / 7739
11
 (HPO:0000977) Soft skin 23 / 7739
12
 (HPO:0001634) Mitral valve prolapse 69 / 7739
13
 (HPO:0001653) Mitral regurgitation 64 / 7739
14
 (HPO:0001659) Aortic regurgitation 36 / 7739
15
 (OMIM) Delayed wound healing 5 / 7739
16
 (OMIM) Absent pro alpha 2(I) chain synthesis (fibroblasts) 1 / 7739
17
 (OMIM) Tendon tears 1 / 7739
18
 (OMIM) Muscle tears 1 / 7739
19
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Shohet et al. (1987) reported 2 unrelated patients, one aged 10 and the other aged 11 years, who had minor signs of Ehlers-Danlos syndrome but severe changes in the aorta requiring surgical repair with fatal complications in 1 ...
Molecular genetics OMIM In 2 of the patients studied by Schwarze et al. (2004), COL1A2 mRNA instability resulted from compound heterozygosity for splice site mutations in the COL1A2 gene (120160.0045-120160.0046 and 120160.0047-120160.0048, respectively). In the third patient Schwarze et al. (2004) ...