MCID: EHL090
MIFTS: 17

Ehlers-Danlos Syndrome Type 7b

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ehlers-Danlos Syndrome Type 7b

MalaCards integrated aliases for Ehlers-Danlos Syndrome Type 7b:

Name: Ehlers-Danlos Syndrome Type 7b 59
Eds Viib 59 73

Characteristics:

Orphanet epidemiological data:

59
ehlers-danlos syndrome type 7b
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA99876
ICD10 via Orphanet 34 Q79.6
UMLS via Orphanet 74 C1851801
UMLS 73 C1851801

Summaries for Ehlers-Danlos Syndrome Type 7b

MalaCards based summary : Ehlers-Danlos Syndrome Type 7b, also known as eds viib, is related to ehlers-danlos syndrome, arthrochalasia type, 2 and ehlers-danlos syndrome, arthrochalasia type, 1. An important gene associated with Ehlers-Danlos Syndrome Type 7b is COL1A2 (Collagen Type I Alpha 2 Chain). Affiliated tissues include skin and bone, and related phenotypes are muscle weakness and short stature

Related Diseases for Ehlers-Danlos Syndrome Type 7b

Diseases in the Ehlers-Danlos Syndrome family:

Ehlers-Danlos Syndrome, Type V Type I Ehlers-Danlos Syndrome
Autosomal Recessive Type Iv Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome Type 7b

Diseases related to Ehlers-Danlos Syndrome Type 7b via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, arthrochalasia type, 2 11.5
2 ehlers-danlos syndrome, arthrochalasia type, 1 11.3

Symptoms & Phenotypes for Ehlers-Danlos Syndrome Type 7b

Human phenotypes related to Ehlers-Danlos Syndrome Type 7b:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
2 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
3 gastroesophageal reflux 59 32 frequent (33%) Frequent (79-30%) HP:0002020
4 osteoporosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000939
5 hernia 59 32 frequent (33%) Frequent (79-30%) HP:0100790
6 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
7 subcutaneous hemorrhage 59 32 frequent (33%) Frequent (79-30%) HP:0001933
8 hyperextensible skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000974
9 excessive wrinkled skin 59 32 frequent (33%) Frequent (79-30%) HP:0007392
10 atrophic scars 59 32 hallmark (90%) Very frequent (99-80%) HP:0001075

Drugs & Therapeutics for Ehlers-Danlos Syndrome Type 7b

Search Clinical Trials , NIH Clinical Center for Ehlers-Danlos Syndrome Type 7b

Genetic Tests for Ehlers-Danlos Syndrome Type 7b

Anatomical Context for Ehlers-Danlos Syndrome Type 7b

MalaCards organs/tissues related to Ehlers-Danlos Syndrome Type 7b:

41
Skin, Bone

Publications for Ehlers-Danlos Syndrome Type 7b

Variations for Ehlers-Danlos Syndrome Type 7b

Expression for Ehlers-Danlos Syndrome Type 7b

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome Type 7b.

Pathways for Ehlers-Danlos Syndrome Type 7b

GO Terms for Ehlers-Danlos Syndrome Type 7b

Sources for Ehlers-Danlos Syndrome Type 7b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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