MCID: XLN086
MIFTS: 19

X-Linked Ehlers-Danlos Syndrome

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

Aliases & Classifications for X-Linked Ehlers-Danlos Syndrome

MalaCards integrated aliases for X-Linked Ehlers-Danlos Syndrome:

Name: X-Linked Ehlers-Danlos Syndrome 59
Ehlers-Danlos Syndrome, Type 5 29
Ehlers-Danlos Syndrome Type 5 59
Eds V 59

Characteristics:

Orphanet epidemiological data:

59
x-linked ehlers-danlos syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent; Age of death: normal life expectancy;

HPO:

32
x-linked ehlers-danlos syndrome:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

MESH via Orphanet 45 C536197
ICD10 via Orphanet 34 Q79.6
UMLS via Orphanet 73 C0268341
Orphanet 59 ORPHA75497

Summaries for X-Linked Ehlers-Danlos Syndrome

MalaCards based summary : X-Linked Ehlers-Danlos Syndrome, also known as ehlers-danlos syndrome, type 5, is related to cardiac valvular dysplasia, x-linked and ehlers-danlos syndrome. An important gene associated with X-Linked Ehlers-Danlos Syndrome is FLNA (Filamin A). Affiliated tissues include skin, heart and bone, and related phenotypes are inguinal hernia and umbilical hernia

Related Diseases for X-Linked Ehlers-Danlos Syndrome

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

# Related Disease Score Top Affiliating Genes
1 cardiac valvular dysplasia, x-linked 10.2
2 ehlers-danlos syndrome 10.2
3 stomatitis 9.8
4 aphthous stomatitis 9.8

Symptoms & Phenotypes for X-Linked Ehlers-Danlos Syndrome

Human phenotypes related to X-Linked Ehlers-Danlos Syndrome:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000023
2 umbilical hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001537
3 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
4 gastroesophageal reflux 59 32 hallmark (90%) Very frequent (99-80%) HP:0002020
5 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
6 thin skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000963
7 bruising susceptibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000978
8 hyperextensible skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000974
9 abnormality of cardiovascular system morphology 32 hallmark (90%) HP:0030680
10 malformation of the heart and great vessels 59 Very frequent (99-80%)
11 hernia 59 Very frequent (99-80%)
12 joint laxity 32 HP:0001388
13 red hair 32 HP:0002297
14 soft skin 32 HP:0000977
15 intramuscular hematoma 32 HP:0012233
16 molluscoid pseudotumors 32 HP:0000993

Drugs & Therapeutics for X-Linked Ehlers-Danlos Syndrome

Search Clinical Trials , NIH Clinical Center for X-Linked Ehlers-Danlos Syndrome

Genetic Tests for X-Linked Ehlers-Danlos Syndrome

Genetic tests related to X-Linked Ehlers-Danlos Syndrome:

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Type 5 29

Anatomical Context for X-Linked Ehlers-Danlos Syndrome

MalaCards organs/tissues related to X-Linked Ehlers-Danlos Syndrome:

41
Skin, Heart, Bone

Publications for X-Linked Ehlers-Danlos Syndrome

Articles related to X-Linked Ehlers-Danlos Syndrome:

# Title Authors PMID Year
1
Of mice and men, metals and mutations. 38
3519972 1986
2
X-linked Ehlers-Danlos syndrome type V; the next generation. 38
4006272 1985
3
Molecular defects in the Ehlers-Danlos syndrome. 38
7086195 1982

Variations for X-Linked Ehlers-Danlos Syndrome

Expression for X-Linked Ehlers-Danlos Syndrome

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

Pathways for X-Linked Ehlers-Danlos Syndrome

GO Terms for X-Linked Ehlers-Danlos Syndrome

Sources for X-Linked Ehlers-Danlos Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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