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MCID: XLN086
MIFTS: 22

X-Linked Ehlers-Danlos Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for X-Linked Ehlers-Danlos Syndrome

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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
Orphanet: 58  
Rare systemic and rhumatological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 45 C536197
ICD10 via Orphanet 33 Q79.6
UMLS via Orphanet 72 C0268341
Orphanet 58 ORPHA75497
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Summaries for X-Linked Ehlers-Danlos Syndrome

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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 heart, and related phenotypes are inguinal hernia and umbilical hernia

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Related Diseases for X-Linked Ehlers-Danlos Syndrome

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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 10.1
2 ehlers-danlos syndrome 10.1

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Symptoms & Phenotypes for X-Linked Ehlers-Danlos Syndrome

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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

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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

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

40
Heart
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Publications for X-Linked Ehlers-Danlos Syndrome

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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
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Variations for X-Linked Ehlers-Danlos Syndrome

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

6 (show all 32)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FLNA NM_001110556.2(FLNA):c.1910C>A (p.Pro637Gln) SNV Pathogenic 11776 rs267606815 X:153593006-153593006 X:154364638-154364638
2 FLNA NM_001110556.2(FLNA):c.862G>A (p.Gly288Arg) SNV Pathogenic 11777 rs267606816 X:153595771-153595771 X:154367403-154367403
3 FLNA NM_001110556.2(FLNA):c.2132T>A (p.Val711Asp) SNV Pathogenic 11778 rs267606817 X:153592631-153592631 X:154364263-154364263
4 FLNA NM_001110556.2(FLNA):c.2280+266_2827-25delinsTG Indel Pathogenic 11779 X:153590180-153592124 X:154361812-154363756
5 FLNA NM_001110556.2(FLNA):c.1923C>T (p.Gly641=) SNV Pathogenic 11770 rs80338841 X:153592993-153592993 X:154364625-154364625
6 FLNA NM_001110556.2(FLNA):c.1829-1G>C SNV Pathogenic 635974 rs1603362402 X:153593088-153593088 X:154364720-154364720
7 FLNA NM_001110556.2(FLNA):c.1910C>T (p.Pro637Leu) SNV Pathogenic 931568 X:153593006-153593006 X:154364638-154364638
8 FLNA NM_001110556.2(FLNA):c.1924G>T (p.Glu642Ter) SNV Likely pathogenic 931351 X:153592992-153592992 X:154364624-154364624
9 FLNA NM_001110556.2(FLNA):c.4750_4755+18del Deletion Likely pathogenic 871720 X:153586549-153586572 X:154358181-154358204
10 FLNA NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg) SNV Likely pathogenic 635975 rs1603360542 X:153586662-153586662 X:154358294-154358294
11 FLNA NM_001110556.2(FLNA):c.622+5G>C SNV Likely pathogenic 930545 X:153596205-153596205 X:154367837-154367837
12 FLNA NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) SNV Likely pathogenic 209154 rs797045044 X:153586596-153586596 X:154358228-154358228
13 FLNA NM_001110556.2(FLNA):c.461T>C (p.Met154Thr) SNV Uncertain significance 435209 rs782240483 X:153596371-153596371 X:154368003-154368003
14 FLNA NM_001110556.2(FLNA):c.2467G>A (p.Asp823Asn) SNV Uncertain significance 930326 X:153590884-153590884 X:154362516-154362516
15 FLNA NM_001110556.2(FLNA):c.546G>C (p.Gln182His) SNV Uncertain significance 548502 rs1557179648 X:153596286-153596286 X:154367918-154367918
16 LOC107988032 NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr) SNV Uncertain significance 392335 X:153577858-153577858 X:154349490-154349490
17 FLNA NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His) SNV Uncertain significance 465015 rs782275601 X:153580296-153580296 X:154351928-154351928
18 FLNA NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln) SNV Uncertain significance 435203 rs781984274 X:153580593-153580593 X:154352225-154352225
19 FLNA NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) SNV Uncertain significance 211024 rs797045581 X:153580599-153580599 X:154352231-154352231
20 FLNA NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser) SNV Uncertain significance 533577 rs782400832 X:153581143-153581143 X:154352775-154352775
21 FLNA NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile) SNV Uncertain significance 432226 rs1297013254 X:153592416-153592416 X:154364048-154364048
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.569G>A (p.Arg190Gln) SNV Uncertain significance 213491 rs782447567 X:153596263-153596263 X:154367895-154367895
24 FLNA NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu) SNV Uncertain significance 625948 rs1557177412 X:153587512-153587512 X:154359144-154359144
25 FLNA NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala) SNV Uncertain significance 588552 rs782445995 X:153589909-153589909 X:154361541-154361541
26 FLNA NM_001110556.2(FLNA):c.2364G>A (p.Glu788=) SNV Uncertain significance 625949 rs1448428046 X:153591069-153591069 X:154362701-154362701
27 FLNA NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala) SNV Uncertain significance 625950 rs1569551838 X:153594700-153594700 X:154366332-154366332
28 FLNA NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr) SNV Uncertain significance 93756 rs371677498 X:153588840-153588840 X:154360472-154360472
29 FLNA NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg) SNV Uncertain significance 625951 rs1569551874 X:153596338-153596338 X:154367970-154367970
30 FLNA NM_001110556.2(FLNA):c.3691G>A (p.Val1231Ile) SNV Uncertain significance 931380 X:153588472-153588472 X:154360104-154360104
31 FLNA NM_001110556.2(FLNA):c.4265A>G (p.Tyr1422Cys) SNV Uncertain significance 931632 X:153587652-153587652 X:154359284-154359284
32 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

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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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Sources for X-Linked Ehlers-Danlos Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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