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 ⁵⁸

Ehlers-Danlos Syndrome Type 5 ⁵⁸

Eds V ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

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: ⁵⁸

Rare systemic and rhumatological diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

MESH via Orphanet ⁴⁴ C536197

ICD10 via Orphanet ³³ Q79.6

UMLS via Orphanet ⁷² C0268341

Orphanet ⁵⁸ ORPHA75497

SNOMED-CT via HPO ⁶⁸ 16331000 235595009 237836003 more

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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, bone and heart, 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:

⁵⁸ ³¹ (show all 11)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	inguinal hernia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000023
2	umbilical hernia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001537
3	short stature ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0004322
4	gastroesophageal reflux ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002020
5	joint hyperflexibility ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0005692
6	bruising susceptibility ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000978
7	hyperextensible skin ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000974
8	thin skin ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000963
9	abnormality of cardiovascular system morphology ³¹	hallmark (90%)		HP:0030680
10	malformation of the heart and great vessels ⁵⁸		Very frequent (99-80%)
11	hernia ⁵⁸		Very frequent (99-80%)

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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

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Anatomical Context for X-Linked Ehlers-Danlos Syndrome

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

⁴⁰

Skin, Bone, Heart

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Publications for X-Linked Ehlers-Danlos Syndrome

Articles related to X-Linked Ehlers-Danlos Syndrome:

#	Title	Authors	PMID	Year
1	Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With FLNA. ⁶	Mercer CL...Ennis S	29237676	2017
2	Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA. ⁶	Ritelli M...Castori M	27739212	2017
3	Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy. ⁶	Kyndt F...Schott JJ	17190868	2007
4	Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28. ⁶	Kyndt F...Benichou B	9497244	1998
5	Sex linked valvular dysplasia. ⁶	Newbury-Ecob RA...Young ID	8230166	1993
6	Familial Ebstein's anomaly: a report of six cases in two generations associated with mild skeletal abnormalities. ⁶	Balaji S...Keeton BR	1854572	1991
7	Lysyl oxidase deficiency in Ehlers-Danlos syndrome type V. ⁶	Di Ferrante N...Almazan A	240645	1975
8	Of mice and men, metals and mutations. ⁶¹	Danks DM	3519972	1986
9	X-linked Ehlers-Danlos syndrome type V; the next generation. ⁶¹	Beighton P...Curtis D	4006272	1985
10	Molecular defects in the Ehlers-Danlos syndrome. ⁶¹	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	750	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸	8230166 1854572 17190868 (more) 27739212 9497244 29237676 240645

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Variations for X-Linked Ehlers-Danlos Syndrome

ClinVar genetic disease variations for X-Linked Ehlers-Danlos Syndrome:

⁶ (show all 24) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	FLNA	NM_001110556.2(FLNA):c.1923C>T (p.Gly641=)	SNV	Pathogenic	11770	rs80338841	X:153592993-153592993	X:154364625-154364625
2	FLNA	NM_001110556.2(FLNA):c.1910C>A (p.Pro637Gln)	SNV	Pathogenic	11776	rs267606815	X:153593006-153593006	X:154364638-154364638
3	FLNA	NM_001110556.2(FLNA):c.862G>A (p.Gly288Arg)	SNV	Pathogenic	11777	rs267606816	X:153595771-153595771	X:154367403-154367403
4	FLNA	NM_001110556.2(FLNA):c.2132T>A (p.Val711Asp)	SNV	Pathogenic	11778	rs267606817	X:153592631-153592631	X:154364263-154364263
5	FLNA	NM_001110556.2(FLNA):c.2280+266_2827-25delinsTG	indel	Pathogenic	11779		X:153590180-153592124	X:154361812-154363756
6	FLNA	NM_001110556.2(FLNA):c.1829-1G>C	SNV	Pathogenic	635974		X:153593088-153593088	X:154364720-154364720
7	FLNA	NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg)	SNV	Pathogenic/Likely pathogenic	209154	rs797045044	X:153586596-153586596	X:154358228-154358228
8	FLNA	NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg)	SNV	Likely pathogenic	635975		X:153586662-153586662	X:154358294-154358294
9	FLNA	NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser)	SNV	Conflicting interpretations of pathogenicity	533577	rs782400832	X:153581143-153581143	X:154352775-154352775
10	FLNA	NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala)	SNV	Conflicting interpretations of pathogenicity	588552	rs782445995	X:153589909-153589909	X:154361541-154361541
11	FLNA	NM_001110556.2(FLNA):c.2364G>A (p.Glu788=)	SNV	Conflicting interpretations of pathogenicity	625949	rs1448428046	X:153591069-153591069	X:154362701-154362701
12	FLNA	NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala)	SNV	Uncertain significance	625950	rs1569551838	X:153594700-153594700	X:154366332-154366332
13	FLNA	NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg)	SNV	Uncertain significance	625951	rs1569551874	X:153596338-153596338	X:154367970-154367970
14	FLNA	NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu)	SNV	Uncertain significance	625948	rs1557177412	X:153587512-153587512	X:154359144-154359144
15	FLNA	NM_001110556.2(FLNA):c.546G>C (p.Gln182His)	SNV	Uncertain significance	548502	rs1557179648	X:153596286-153596286	X:154367918-154367918
16	FLNA	NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile)	SNV	Uncertain significance	432226	rs1297013254	X:153592416-153592416	X:154364048-154364048
17	FLNA	NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln)	SNV	Uncertain significance	435203	rs781984274	X:153580593-153580593	X:154352225-154352225
18	FLNA	NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg)	SNV	Uncertain significance	211024	rs797045581	X:153580599-153580599	X:154352231-154352231
19	FLNA	NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln)	SNV	Uncertain significance	213491	rs782447567	X:153596263-153596263	X:154367895-154367895
20	FLNA	NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)	SNV	Uncertain significance	392335	rs201762017	X:153577858-153577858	X:154349490-154349490
21	FLNA	NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr)	SNV	Uncertain significance	93756	rs371677498	X:153588840-153588840	X:154360472-154360472
22	FLNA	NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp)	SNV	Uncertain significance	198133	rs192609440	X:153595186-153595186	X:154366818-154366818
23	FLNA	NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His)	SNV	Uncertain significance	465015	rs782275601	X:153580296-153580296	X:154351928-154351928
24	FLNA	NM_001110556.2(FLNA):c.1571G>A (p.Gly524Glu)	SNV	not provided	440936	rs1557178957	X:153593624-153593624	X:154365256-154365256

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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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