MCID: EHL090
MIFTS: 20

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 60
Eds Viib 60 74

Characteristics:

Orphanet epidemiological data:

60
ehlers-danlos syndrome type 7b
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q79.6
UMLS via Orphanet 75 C1851801
Orphanet 60 ORPHA99876
UMLS 74 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:

60 33 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001324
2 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
3 joint hyperflexibility 60 33 hallmark (90%) Very frequent (99-80%) HP:0005692
4 hyperextensible skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000974
5 atrophic scars 60 33 hallmark (90%) Very frequent (99-80%) HP:0001075
6 gastroesophageal reflux 60 33 frequent (33%) Frequent (79-30%) HP:0002020
7 hernia 60 33 frequent (33%) Frequent (79-30%) HP:0100790
8 subcutaneous hemorrhage 60 33 frequent (33%) Frequent (79-30%) HP:0001933
9 excessive wrinkled skin 60 33 frequent (33%) Frequent (79-30%) HP:0007392
10 osteoporosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000939

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:

42
Skin, Bone

Publications for Ehlers-Danlos Syndrome Type 7b

Articles related to Ehlers-Danlos Syndrome Type 7b:

# Title Authors Year
1
The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis. ( 30851240 )
2019
2
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4. ( 29499165 )
2018
3
Clinical findings observed by in-vivo confocal microscopy of posterior polymorphous corneal dystrophy. ( 30144943 )
2018
4
Unilateral Posterior Polymorphous Corneal Dystrophy Presented as Anisometropic Astigmatism: 3 Case Reports. ( 28559836 )
2017
5
Active transforming growth factor-β2 in the aqueous humor of posterior polymorphous corneal dystrophy patients. ( 28414732 )
2017
6
Long-Term Observation of Coexistence of Posterior Polymorphous Corneal Dystrophy, Resultant High Myopia and Nonkeratoconic Developing Corneal Astigmatism: A Case Report of 7-Year Tracking in a Chinese Boy. ( 26061314 )
2015

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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