MCID: ITC001
MIFTS: 14

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 6
Syndromic Multisystem Autoimmune Disease 53

Classifications:



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, multisystem, with facial dysmorphism and autoimmune disease. An important gene associated with Itch E3 Ubiquitin Ligase Deficiency is ITCH (Itchy E3 Ubiquitin Protein Ligase).

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:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 autoimmune disease, multisystem, with facial dysmorphism 12.0
2 autoimmune disease 10.3
3 lymphoproliferative syndrome 9.9
4 portal hypertension 9.9
5 neutropenia 9.9
6 pancytopenia 9.9
7 cholestasis 9.9
8 autoimmune hepatitis 9.9
9 liver cirrhosis 9.9
10 hypersplenism 9.9
11 thyroiditis 9.9
12 exophthalmos 9.9
13 hypereosinophilic syndrome 9.9
14 hypotonia 9.9
15 systemic autoimmune disease 9.9
16 acute liver failure 9.9

Graphical network of the top 20 diseases related to Itch E3 Ubiquitin Ligase Deficiency:



Diseases related to Itch E3 Ubiquitin Ligase Deficiency

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 PMID Year
1
ITCH deficiency protects from diet-induced obesity. 38
24170694 2014
2
Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease. 38
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 GRCh37 Pos GRCh38 Pos
1 ITCH NM_031483.7(ITCH): c.394dup (p.Ile132fs) duplication Pathogenic rs587776592 20:33001604-33001604 20:34413798-34413798
2 ITCH NM_031483.7(ITCH): c.1915A> G (p.Ile639Val) single nucleotide variant Uncertain significance 20:33068500-33068500 20:34480695-34480695
3 ITCH NM_031483.7(ITCH): c.2452G> A (p.Val818Ile) single nucleotide variant Uncertain significance 20:33092171-33092171 20:34504366-34504366
4 ITCH NM_031483.7(ITCH): c.2289G> T (p.Arg763Ser) single nucleotide variant Uncertain significance 20:33077701-33077701 20:34489896-34489896
5 ITCH NM_031483.7(ITCH): c.83A> G (p.Lys28Arg) single nucleotide variant Uncertain significance 20:32996469-32996469 20:34408663-34408663
6 ITCH NM_031483.7(ITCH): c.329A> G (p.Asn110Ser) single nucleotide variant Uncertain significance 20:33000437-33000437 20:34412631-34412631
7 ITCH NM_031483.7(ITCH): c.350T> C (p.Val117Ala) single nucleotide variant Uncertain significance 20:33001560-33001560 20:34413754-34413754
8 ITCH NM_031483.7(ITCH): c.610A> G (p.Asn204Asp) single nucleotide variant Uncertain significance 20:33026367-33026367 20:34438562-34438562
9 ITCH NM_031483.7(ITCH): c.908A> G (p.Tyr303Cys) single nucleotide variant Uncertain significance 20:33030051-33030051 20:34442246-34442246
10 ITCH NM_031483.7(ITCH): c.1405C> T (p.Arg469Cys) single nucleotide variant Uncertain significance 20:33050007-33050007 20:34462202-34462202
11 ITCH NM_031483.7(ITCH): c.2423A> G (p.Asn808Ser) single nucleotide variant Uncertain significance 20:33092142-33092142 20:34504337-34504337
12 ITCH NM_031483.7(ITCH): c.2498G> A (p.Arg833His) single nucleotide variant Uncertain significance 20:33095508-33095508 20:34507703-34507703
13 ITCH NM_031483.7(ITCH): c.1952+6T> C single nucleotide variant Uncertain significance 20:33068543-33068543 20:34480738-34480738
14 ITCH NM_031483.7(ITCH): c.1953-3C> A single nucleotide variant Uncertain significance 20:33068868-33068868 20:34481063-34481063
15 ITCH NM_031483.7(ITCH): c.751_756AATACA[4] (p.251_252NT[4]) short repeat Uncertain significance rs752161809 20:33028043-33028048 20:34440238-34440243
16 ITCH NM_031483.7(ITCH): c.694T> G (p.Ser232Ala) single nucleotide variant Uncertain significance rs773997755 20:33027974-33027974 20:34440169-34440169
17 ITCH NM_031483.7(ITCH): c.751_756AATACA[2] (p.251_252NT[2]) short repeat Uncertain significance rs752161809 20:33028043-33028048 20:34440238-34440243
18 ITCH NM_031483.7(ITCH): c.467G> A (p.Cys156Tyr) single nucleotide variant Likely benign rs149625278 20:33001677-33001677 20:34413871-34413871
19 ITCH NM_031483.7(ITCH): c.1821T> A (p.Ala607=) single nucleotide variant Likely benign rs780622395 20:33068406-33068406 20:34480601-34480601
20 ITCH NM_031483.7(ITCH): c.213-8A> T single nucleotide variant Likely benign rs1297985937 20:33000313-33000313 20:34412507-34412507
21 ITCH NM_031483.7(ITCH): c.966-7G> T single nucleotide variant Likely benign rs773671382 20:33033085-33033085 20:34445280-34445280
22 ITCH NM_031483.7(ITCH): c.1272A> G (p.Gln424=) single nucleotide variant Likely benign rs749700496 20:33045256-33045256 20:34457451-34457451
23 ITCH NM_031483.7(ITCH): c.1146A> G (p.Gln382=) single nucleotide variant Benign rs141828786 20:33037221-33037221 20:34449416-34449416
24 ITCH NM_031483.7(ITCH): c.966-9C> T single nucleotide variant Benign rs879012592 20:33033083-33033083 20:34445278-34445278
25 ITCH NM_031483.7(ITCH): c.246T> C (p.Arg82=) single nucleotide variant Benign rs3761146 20:33000354-33000354 20:34412548-34412548
26 ITCH NM_031483.7(ITCH): c.2154A> G (p.Glu718=) single nucleotide variant Benign rs143022837 20:33077131-33077131 20:34489326-34489326

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

GO Terms for Itch E3 Ubiquitin Ligase Deficiency

Sources for Itch E3 Ubiquitin Ligase Deficiency

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73 UMLS via Orphanet
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