X-Linked Ehlers-Danlos Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Bone diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Congenital malformations of the musculoskeletal system, not elsewhere classified

Ehlers-Danlos syndrome

Orphanet: ⁵⁹

Rare systemic and rhumatological diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

MESH via Orphanet ⁴⁵ C536197

ICD10 via Orphanet ³⁴ Q79.6

UMLS via Orphanet ⁷³ C0268341

Orphanet ⁵⁹ ORPHA75497

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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

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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
1	cardiac valvular dysplasia, x-linked	10.2
2	ehlers-danlos syndrome	10.2
3	stomatitis	9.8
4	aphthous stomatitis	9.8

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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

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Drugs & Therapeutics for X-Linked Ehlers-Danlos Syndrome

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

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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

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Anatomical Context for X-Linked Ehlers-Danlos Syndrome

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

⁴¹

Skin, Heart, Bone

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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	Danks DM	3519972	1986
2	X-linked Ehlers-Danlos syndrome type V; the next generation. ³⁸	Beighton P...Curtis D	4006272	1985
3	Molecular defects in the Ehlers-Danlos syndrome. ³⁸	Pinnell SR	7086195	1982

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Genes for X-Linked Ehlers-Danlos Syndrome

Genes related to X-Linked Ehlers-Danlos Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	FLNA	Filamin A	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹

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Variations for X-Linked Ehlers-Danlos Syndrome

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Expression for X-Linked Ehlers-Danlos Syndrome

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

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Pathways for X-Linked Ehlers-Danlos Syndrome

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GO Terms for X-Linked Ehlers-Danlos Syndrome

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