MCID: ITC001
MIFTS: 9

Itch E3 Ubiquitin Ligase Deficiency

Categories: Rare diseases

Aliases & Classifications for Itch E3 Ubiquitin Ligase Deficiency

MalaCards integrated aliases for Itch E3 Ubiquitin Ligase Deficiency:

Name: Itch E3 Ubiquitin Ligase Deficiency 53
Autoimmune Disease, Syndromic Multisystem 53 29 13 6
Syndromic Multisystem Autoimmune Disease 53 37

Classifications:



External Ids:

KEGG 37 H01232

Summaries for Itch E3 Ubiquitin Ligase Deficiency

MalaCards based summary : Itch E3 Ubiquitin Ligase Deficiency, also known as autoimmune disease, syndromic multisystem, is related to autoimmune disease and autoimmune disease 1. An important gene associated with Itch E3 Ubiquitin Ligase Deficiency is ITCH (Itchy E3 Ubiquitin Protein Ligase), and among its related pathways/superpathways are Ubiquitin mediated proteolysis and Endocytosis.

Related Diseases for Itch E3 Ubiquitin Ligase Deficiency

Diseases related to Itch E3 Ubiquitin Ligase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autoimmune disease 10.1
2 autoimmune disease 1 10.1
3 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
4 autoimmune disease, multisystem, with facial dysmorphism 10.1

Symptoms & Phenotypes for Itch E3 Ubiquitin Ligase Deficiency

Drugs & Therapeutics for Itch E3 Ubiquitin Ligase Deficiency

Search Clinical Trials , NIH Clinical Center for Itch E3 Ubiquitin Ligase Deficiency

Genetic Tests for Itch E3 Ubiquitin Ligase Deficiency

Genetic tests related to Itch E3 Ubiquitin Ligase Deficiency:

# Genetic test Affiliating Genes
1 Autoimmune Disease, Syndromic Multisystem 29 ITCH

Anatomical Context for Itch E3 Ubiquitin Ligase Deficiency

Publications for Itch E3 Ubiquitin Ligase Deficiency

Articles related to Itch E3 Ubiquitin Ligase Deficiency:

# Title Authors Year
1
Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease. ( 20170897 )
2010

Variations for Itch E3 Ubiquitin Ligase Deficiency

ClinVar genetic disease variations for Itch E3 Ubiquitin Ligase Deficiency:

6
(show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 ITCH NM_031483.6(ITCH): c.394dupA (p.Ile132Asnfs) duplication Pathogenic rs587776592 GRCh37 Chromosome 20, 33001604: 33001604
2 ITCH NM_031483.6(ITCH): c.394dupA (p.Ile132Asnfs) duplication Pathogenic rs587776592 GRCh38 Chromosome 20, 34413798: 34413798
3 ITCH NM_031483.6(ITCH): c.966-7G> T single nucleotide variant Likely benign rs773671382 GRCh37 Chromosome 20, 33033085: 33033085
4 ITCH NM_031483.6(ITCH): c.966-7G> T single nucleotide variant Likely benign rs773671382 GRCh38 Chromosome 20, 34445280: 34445280
5 ITCH NM_031483.6(ITCH): c.1272A> G (p.Gln424=) single nucleotide variant Likely benign rs749700496 GRCh37 Chromosome 20, 33045256: 33045256
6 ITCH NM_031483.6(ITCH): c.1272A> G (p.Gln424=) single nucleotide variant Likely benign rs749700496 GRCh38 Chromosome 20, 34457451: 34457451
7 ITCH NM_031483.6(ITCH): c.1146A> G (p.Gln382=) single nucleotide variant Benign rs141828786 GRCh38 Chromosome 20, 34449416: 34449416
8 ITCH NM_031483.6(ITCH): c.1146A> G (p.Gln382=) single nucleotide variant Benign rs141828786 GRCh37 Chromosome 20, 33037221: 33037221
9 ITCH NM_031483.6(ITCH): c.966-9C> T single nucleotide variant Benign rs879012592 GRCh38 Chromosome 20, 34445278: 34445278
10 ITCH NM_031483.6(ITCH): c.966-9C> T single nucleotide variant Benign rs879012592 GRCh37 Chromosome 20, 33033083: 33033083
11 ITCH NM_031483.6(ITCH): c.246T> C (p.Arg82=) single nucleotide variant Benign rs3761146 GRCh37 Chromosome 20, 33000354: 33000354
12 ITCH NM_031483.6(ITCH): c.246T> C (p.Arg82=) single nucleotide variant Benign rs3761146 GRCh38 Chromosome 20, 34412548: 34412548
13 ITCH NM_031483.6(ITCH): c.763_768dup (p.Thr256_Ser257insAsnThr) duplication Uncertain significance GRCh37 Chromosome 20, 33028043: 33028048
14 ITCH NM_031483.6(ITCH): c.763_768dup (p.Thr256_Ser257insAsnThr) duplication Uncertain significance GRCh38 Chromosome 20, 34440238: 34440243
15 ITCH NM_031483.6(ITCH): c.213-8A> T single nucleotide variant Likely benign GRCh38 Chromosome 20, 34412507: 34412507
16 ITCH NM_031483.6(ITCH): c.213-8A> T single nucleotide variant Likely benign GRCh37 Chromosome 20, 33000313: 33000313
17 ITCH NM_031483.6(ITCH): c.694T> G (p.Ser232Ala) single nucleotide variant Uncertain significance rs773997755 GRCh38 Chromosome 20, 34440169: 34440169
18 ITCH NM_031483.6(ITCH): c.694T> G (p.Ser232Ala) single nucleotide variant Uncertain significance rs773997755 GRCh37 Chromosome 20, 33027974: 33027974
19 ITCH NM_031483.6(ITCH): c.1821T> A (p.Ala607=) single nucleotide variant Likely benign rs780622395 GRCh38 Chromosome 20, 34480601: 34480601
20 ITCH NM_031483.6(ITCH): c.1821T> A (p.Ala607=) single nucleotide variant Likely benign rs780622395 GRCh37 Chromosome 20, 33068406: 33068406
21 ITCH NM_031483.6(ITCH): c.2154A> G (p.Glu718=) single nucleotide variant Benign rs143022837 GRCh38 Chromosome 20, 34489326: 34489326
22 ITCH NM_031483.6(ITCH): c.2154A> G (p.Glu718=) single nucleotide variant Benign rs143022837 GRCh37 Chromosome 20, 33077131: 33077131
23 ITCH NM_031483.6(ITCH): c.467G> A (p.Cys156Tyr) single nucleotide variant Likely benign rs149625278 GRCh37 Chromosome 20, 33001677: 33001677
24 ITCH NM_031483.6(ITCH): c.467G> A (p.Cys156Tyr) single nucleotide variant Likely benign rs149625278 GRCh38 Chromosome 20, 34413871: 34413871
25 ITCH NM_031483.6(ITCH): c.763_768delAATACA (p.Asn255_Thr256del) deletion Uncertain significance GRCh37 Chromosome 20, 33028043: 33028048
26 ITCH NM_031483.6(ITCH): c.763_768delAATACA (p.Asn255_Thr256del) deletion Uncertain significance GRCh38 Chromosome 20, 34440238: 34440243

Expression for Itch E3 Ubiquitin Ligase Deficiency

Search GEO for disease gene expression data for Itch E3 Ubiquitin Ligase Deficiency.

Pathways for Itch E3 Ubiquitin Ligase Deficiency

Pathways related to Itch E3 Ubiquitin Ligase Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Ubiquitin mediated proteolysis hsa04120
2 Endocytosis hsa04144

GO Terms for Itch E3 Ubiquitin Ligase Deficiency

Sources for Itch E3 Ubiquitin Ligase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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