MCID: XLN086
MIFTS: 23

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 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:

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

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

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:

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%)

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

Anatomical Context for X-Linked Ehlers-Danlos Syndrome

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

40
Skin, Bone, Heart

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
29237676 2017
2
Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA. 6
27739212 2017
3
Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy. 6
17190868 2007
4
Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28. 6
9497244 1998
5
Sex linked valvular dysplasia. 6
8230166 1993
6
Familial Ebstein's anomaly: a report of six cases in two generations associated with mild skeletal abnormalities. 6
1854572 1991
7
Lysyl oxidase deficiency in Ehlers-Danlos syndrome type V. 6
240645 1975
8
Of mice and men, metals and mutations. 61
3519972 1986
9
X-linked Ehlers-Danlos syndrome type V; the next generation. 61
4006272 1985
10
Molecular defects in the Ehlers-Danlos syndrome. 61
7086195 1982

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_2827-25delinsTGindel Pathogenic 11779 X:153590180-153592124 X:154361812-154363756
6 FLNA NM_001110556.2(FLNA):c.1829-1G>CSNV 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

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
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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