MCID: ITC001
MIFTS: 15

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 52
Autoimmune Disease, Syndromic Multisystem 52 29 6
Syndromic Multisystem Autoimmune Disease 52

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). Affiliated tissues include liver and thyroid.

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:

(showing 16, show less)
# 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

MalaCards organs/tissues related to Itch E3 Ubiquitin Ligase Deficiency:

40
Liver, Thyroid

Publications for Itch E3 Ubiquitin Ligase Deficiency

Articles related to Itch E3 Ubiquitin Ligase Deficiency:

(showing 2, show less)
# Title Authors PMID Year
1
ITCH deficiency protects from diet-induced obesity. 61
24170694 2014
2
Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease. 61
20170897 2010

Variations for Itch E3 Ubiquitin Ligase Deficiency

ClinVar genetic disease variations for Itch E3 Ubiquitin Ligase Deficiency:

6 (showing 20, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ITCH NM_031483.7(ITCH):c.394dup (p.Ile132fs)duplication Pathogenic 4391 rs587776592 20:33001602-33001603 20:34413796-34413797
2 ITCH NM_031483.7(ITCH):c.751_756AATACA[4] (p.251_252NT[4])short repeat Uncertain significance 538753 rs752161809 20:33028027-33028028 20:34440222-34440223
3 ITCH NM_031483.7(ITCH):c.694T>G (p.Ser232Ala)SNV Uncertain significance 538752 rs773997755 20:33027974-33027974 20:34440169-34440169
4 ITCH NM_031483.7(ITCH):c.751_756AATACA[2] (p.251_252NT[2])short repeat Uncertain significance 538754 rs752161809 20:33028028-33028033 20:34440223-34440228
5 ITCH NM_031483.7(ITCH):c.1915A>G (p.Ile639Val)SNV Uncertain significance 582399 rs139633287 20:33068500-33068500 20:34480695-34480695
6 ITCH NM_031483.7(ITCH):c.2452G>A (p.Val818Ile)SNV Uncertain significance 573498 rs767087220 20:33092171-33092171 20:34504366-34504366
7 ITCH NM_031483.7(ITCH):c.2289G>T (p.Arg763Ser)SNV Uncertain significance 575318 rs1234261647 20:33077701-33077701 20:34489896-34489896
8 ITCH NM_031483.7(ITCH):c.83A>G (p.Lys28Arg)SNV Uncertain significance 581061 rs373940007 20:32996469-32996469 20:34408663-34408663
9 ITCH NM_031483.7(ITCH):c.329A>G (p.Asn110Ser)SNV Uncertain significance 661811 20:33000437-33000437 20:34412631-34412631
10 ITCH NM_031483.7(ITCH):c.350T>C (p.Val117Ala)SNV Uncertain significance 663270 20:33001560-33001560 20:34413754-34413754
11 ITCH NM_031483.7(ITCH):c.610A>G (p.Asn204Asp)SNV Uncertain significance 640637 20:33026367-33026367 20:34438562-34438562
12 ITCH NM_031483.7(ITCH):c.908A>G (p.Tyr303Cys)SNV Uncertain significance 655936 20:33030051-33030051 20:34442246-34442246
13 ITCH NM_031483.7(ITCH):c.1405C>T (p.Arg469Cys)SNV Uncertain significance 661307 20:33050007-33050007 20:34462202-34462202
14 ITCH NM_031483.7(ITCH):c.2423A>G (p.Asn808Ser)SNV Uncertain significance 648017 20:33092142-33092142 20:34504337-34504337
15 ITCH NM_031483.7(ITCH):c.2498G>A (p.Arg833His)SNV Uncertain significance 652599 20:33095508-33095508 20:34507703-34507703
16 ITCH NM_031483.7(ITCH):c.1952+6T>CSNV Uncertain significance 659821 20:33068543-33068543 20:34480738-34480738
17 ITCH NM_031483.7(ITCH):c.1953-3C>ASNV Uncertain significance 665933 20:33068868-33068868 20:34481063-34481063
18 ITCH NM_031483.7(ITCH):c.1821T>A (p.Ala607=)SNV Likely benign 538758 rs780622395 20:33068406-33068406 20:34480601-34480601
19 ITCH NM_031483.7(ITCH):c.966-7G>TSNV Likely benign 471417 rs773671382 20:33033085-33033085 20:34445280-34445280
20 ITCH NM_031483.7(ITCH):c.1272A>G (p.Gln424=)SNV Likely benign 471416 rs749700496 20:33045256-33045256 20:34457451-34457451

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
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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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