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  3. ITCH

ITCH gene related symptoms and diseases

All the information presented here about the ITCH gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to ITCH gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Camptodactyly Very Common - Between 80% and 100% cases
Chronic lung disease Very Common - Between 80% and 100% cases
Prominent occiput Very Common - Between 80% and 100% cases
Relative macrocephaly Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ITCH gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Abnormal intestine morphology
  • Short chin
  • Type I diabetes mellitus
  • Chronic diarrhea
  • Abnormal lung morphology
  • Hepatitis
  • Asthma
  • Malabsorption

And 18 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ITCH gene

Here you will find a list of rare diseases related to the ITCH. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

Description

Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Most common symptoms of SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

SOURCES: OMIM ORPHANET


Potential gene panels for ITCH gene

ALPS/autoimmunity panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht ALPS/autoimmunity panel that also includes the following genes: FAS FASLG ITCH CASP10 CASP8 LRBA FADD AIRE IL2RA FOXP3

More info about this panel
Netherlands.

Immune dysregulation Panel Panel

Germany.

By CeGaT GmbH Immune dysregulation Panel that also includes the following genes: SH2D1A STX11 STXBP2 FAS FASLG TREX1 ITCH CASP10 CASP8 CARD11

More info about this panel
Germany.

Invitae Monogenic Autoimmunity Panel Panel

United States.

By Invitae Invitae Monogenic Autoimmunity Panel that also includes the following genes: RMRP SH2D1A SLC7A7 BTK STAT1 STAT3 STAT5B STIM1 STX11 STXBP2

More info about this panel
United States.

Invitae Primary Immunodeficiency Panel Panel

United States.

By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2

More info about this panel
United States.

ITCH Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ITCH gene.

More info about this panel
United States.

CEN4GEN Breast cancer: Extended gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Breast cancer: Extended gene sequencing Panel that also includes the following genes: BRCA1 BRCA2 TP53 TRAF5 WEE1 PCGF2 KMT2C ITCH CBFB MUC16

More info about this panel
Canada.

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