MCID: XLN228
MIFTS: 25

X-Linked Recessive Disease

Categories: Genetic diseases

Aliases & Classifications for X-Linked Recessive Disease

MalaCards integrated aliases for X-Linked Recessive Disease:

Name: X-Linked Recessive Disease 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0080012

Summaries for X-Linked Recessive Disease

Disease Ontology : 12 A X-linked monogenic disease that has material basis in recessive inheritance.

MalaCards based summary : X-Linked Recessive Disease is related to wiskott-aldrich syndrome and factor viii deficiency. An important gene associated with X-Linked Recessive Disease is WAS (Wiskott-Aldrich Syndrome), and among its related pathways/superpathways is Peroxisome. Affiliated tissues include t cells and b cells, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for X-Linked Recessive Disease

Graphical network of the top 20 diseases related to X-Linked Recessive Disease:



Diseases related to X-Linked Recessive Disease

Symptoms & Phenotypes for X-Linked Recessive Disease

GenomeRNAi Phenotypes related to X-Linked Recessive Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.23 DKC1
2 Decreased viability GR00221-A-2 10.23 DKC1
3 Decreased viability GR00221-A-4 10.23 DKC1
4 Decreased viability GR00301-A 10.23 DKC1
5 Decreased viability GR00402-S-2 10.23 ABCD1 ABCD2 ABCD3 ALAS2 CHM CLCN5
6 no effect GR00402-S-1 9.62 ABCD1 ABCD2 ABCD3 ALAS2 CHM CLCN5
7 Increased cell death HMECs cells GR00103-A-0 9.35 F8 NDP NR0B1 OCRL TAZ

MGI Mouse Phenotypes related to X-Linked Recessive Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.06 ABCD1 ABCD2 ABCD3 ALAS2 CHM CLCN5
2 hematopoietic system MP:0005397 9.96 ABCD1 ABCD2 ALAS2 CYBB DKC1 F8
3 neoplasm MP:0002006 9.43 CYBB DKC1 IL2RG NR0B1 PEX5 WAS
4 reproductive system MP:0005389 9.32 ABCD1 DKC1 F8 IL2RG NDP NR0B1

Drugs & Therapeutics for X-Linked Recessive Disease

Search Clinical Trials , NIH Clinical Center for X-Linked Recessive Disease

Genetic Tests for X-Linked Recessive Disease

Anatomical Context for X-Linked Recessive Disease

MalaCards organs/tissues related to X-Linked Recessive Disease:

41
T Cells, B Cells

Publications for X-Linked Recessive Disease

Articles related to X-Linked Recessive Disease:

# Title Authors Year
1
Equilibrium frequencies in X-linked recessive disease. ( 4716658 )
1973

Variations for X-Linked Recessive Disease

Expression for X-Linked Recessive Disease

Search GEO for disease gene expression data for X-Linked Recessive Disease.

Pathways for X-Linked Recessive Disease

Pathways related to X-Linked Recessive Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.94 ABCD1 ABCD2 ABCD3 PEX5 SLC25A17

GO Terms for X-Linked Recessive Disease

Cellular components related to X-Linked Recessive Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peroxisome GO:0005777 9.35 ABCD1 ABCD2 ABCD3 PEX5 SLC25A17
2 integral component of peroxisomal membrane GO:0005779 9.26 ABCD1 SLC25A17
3 peroxisomal membrane GO:0005778 9.02 ABCD1 ABCD2 ABCD3 PEX5 SLC25A17
4 membrane GO:0016020 10.03 ABCD1 ABCD2 ABCD3 CLCN5 CYBB DKC1

Biological processes related to X-Linked Recessive Disease according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.85 ABCD1 ABCD2 ABCD3 CLCN5 SLC16A2 SLC25A17
2 negative regulation of cytokine production involved in inflammatory response GO:1900016 9.49 ABCD1 ABCD2
3 negative regulation of reactive oxygen species biosynthetic process GO:1903427 9.48 ABCD1 ABCD2
4 neuron projection maintenance GO:1990535 9.46 ABCD1 ABCD2
5 positive regulation of fatty acid beta-oxidation GO:0032000 9.43 ABCD1 ABCD2
6 myelin maintenance GO:0043217 9.4 ABCD1 ABCD2
7 peroxisome organization GO:0007031 9.33 ABCD1 ABCD3 PEX5
8 peroxisomal long-chain fatty acid import GO:0015910 9.32 ABCD1 ABCD3
9 positive regulation of unsaturated fatty acid biosynthetic process GO:2001280 9.26 ABCD1 ABCD2
10 very long-chain fatty acid catabolic process GO:0042760 9.13 ABCD1 ABCD2 ABCD3
11 fatty acid beta-oxidation GO:0006635 9.02 ABCD1 ABCD2 ABCD3 PEX5 SLC25A17

Molecular functions related to X-Linked Recessive Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 small GTPase binding GO:0031267 9.26 PEX5 WAS
2 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.13 ABCD1 ABCD2 ABCD3
3 long-chain fatty acid transporter activity GO:0005324 8.8 ABCD1 ABCD2 ABCD3
4 protein binding GO:0005515 10.06 ABCD1 ABCD2 ABCD3 ALAS2 CLCN5 CYBB

Sources for X-Linked Recessive Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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