MCID: ART153
MIFTS: 21

Arthrochalasia Ehlers-Danlos Syndrome

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

Aliases & Classifications for Arthrochalasia Ehlers-Danlos Syndrome

MalaCards integrated aliases for Arthrochalasia Ehlers-Danlos Syndrome:

Name: Arthrochalasia Ehlers-Danlos Syndrome 49
Ehlers-Danlos Syndrome, Arthrochalasia Type 49 69
Arthrochalasis Multiplex Congenita 49
Arthrochalasia Eds 49
Aeds 49

Classifications:



External Ids:

UMLS 69 C0268345

Summaries for Arthrochalasia Ehlers-Danlos Syndrome

NIH Rare Diseases : 49 Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inheritedconnective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility; congenital hip dislocation; fragile, hyperextensible skin; hypotonia; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. Last updated: 4/21/2017

MalaCards based summary : Arthrochalasia Ehlers-Danlos Syndrome, also known as ehlers-danlos syndrome, arthrochalasia type, is related to immunoglobulin a deficiency 1 and hepatitis a. Affiliated tissues include skin.

Related Diseases for Arthrochalasia Ehlers-Danlos Syndrome

Diseases in the Arthrochalasia Ehlers-Danlos Syndrome family:

Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

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

(show top 50) (show all 9433)
# Related Disease Score Top Affiliating Genes
1 immunoglobulin a deficiency 1 12.2
2 hepatitis a 12.2
3 hypervitaminosis a 12.1
4 hemophilia a 12.1
5 xeroderma pigmentosum, complementation group a 12.1
6 molybdenum cofactor deficiency, complementation group a 12.1
7 fanconi anemia, complementation group a 12.1
8 insulin-resistant acanthosis nigricans, type a 12.1
9 mandibuloacral dysplasia with type a lipodystrophy 12.1
10 niemann-pick disease, type a 12.0
11 krabbe disease, atypical, due to saposin a deficiency 12.0
12 hypercarotenemia and vitamin a deficiency, autosomal dominant 12.0
13 charcot-marie-tooth disease, recessive intermediate a 12.0
14 hyperphenylalaninemia, bh4-deficient, a 12.0
15 mannosidosis, beta a, lysosomal 12.0
16 streptococcal group a invasive disease 12.0
17 charcot-marie-tooth disease, dominant intermediate a 12.0
18 cockayne syndrome a 12.0
19 glaucoma 1, open angle, a 12.0
20 medium-chain acyl-coenzyme a dehydrogenase deficiency 12.0
21 muscular dystrophy-dystroglycanopathy , type a, 1 12.0
22 glaucoma 3, primary congenital, a 12.0
23 methylmalonyl-coenzyme a mutase deficiency 11.9
24 immunoglobulin a deficiency 2 11.9
25 non-a-e hepatitis 11.9
26 muscular dystrophy-dystroglycanopathy , type a, 4 11.9
27 unilateral absence of a pulmonary artery 11.9
28 muscular dystrophy-dystroglycanopathy , type a, 8 11.9
29 muscular dystrophy-dystroglycanopathy , type a, 11 11.9
30 acquired hemophilia a 11.9
31 muscular dystrophy-dystroglycanopathy , type a, 10 11.9
32 muscular dystrophy-dystroglycanopathy , type a, 12 11.9
33 serpin peptidase inhibitor, clade a, member 2, pseudogene 11.9
34 muscular dystrophy-dystroglycanopathy , type a, 13 11.9
35 muscular dystrophy-dystroglycanopathy , type a, 3 11.9
36 muscular dystrophy-dystroglycanopathy , type a, 2 11.9
37 muscular dystrophy-dystroglycanopathy , type a, 5 11.9
38 muscular dystrophy-dystroglycanopathy , type a, 6 11.9
39 factor xiii, a subunit, deficiency of 11.9
40 muscular dystrophy-dystroglycanopathy , type a, 7 11.9
41 muscular dystrophy-dystroglycanopathy , type a, 9 11.9
42 muscular dystrophy-dystroglycanopathy , type a, 14 11.8
43 smoking as a quantitative trait locus 3 11.8
44 pseudoarylsulfatase a deficiency 11.8
45 hereditary hypercarotenemia and vitamin a deficiency 11.8
46 severe hemophilia a 11.8
47 stature as a quantitative trait 11.8
48 koolen-de vries syndrome due to a point mutation 11.8
49 angelman syndrome due to a point mutation 11.8
50 adnexal spiradenoma/cylindroma of a sweat gland 11.8

Graphical network of the top 20 diseases related to Arthrochalasia Ehlers-Danlos Syndrome:



Diseases related to Arthrochalasia Ehlers-Danlos Syndrome

Symptoms & Phenotypes for Arthrochalasia Ehlers-Danlos Syndrome

Drugs & Therapeutics for Arthrochalasia Ehlers-Danlos Syndrome

Search Clinical Trials , NIH Clinical Center for Arthrochalasia Ehlers-Danlos Syndrome

Genetic Tests for Arthrochalasia Ehlers-Danlos Syndrome

Anatomical Context for Arthrochalasia Ehlers-Danlos Syndrome

MalaCards organs/tissues related to Arthrochalasia Ehlers-Danlos Syndrome:

38
Skin

Publications for Arthrochalasia Ehlers-Danlos Syndrome

Variations for Arthrochalasia Ehlers-Danlos Syndrome

Expression for Arthrochalasia Ehlers-Danlos Syndrome

Search GEO for disease gene expression data for Arthrochalasia Ehlers-Danlos Syndrome.

Pathways for Arthrochalasia Ehlers-Danlos Syndrome

GO Terms for Arthrochalasia Ehlers-Danlos Syndrome

Sources for Arthrochalasia Ehlers-Danlos Syndrome

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70 UMLS via Orphanet
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