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CHUK gene related symptoms and diseases

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

Table of contents:

Top 5 symptoms and clinical features associated to CHUK gene

Symptoms // Phenotype % Cases
Microcephaly Very Common - Between 80% and 100% cases
Hyperkeratosis Very Common - Between 80% and 100% cases
Thin skin Very Common - Between 80% and 100% cases
Omphalocele Very Common - Between 80% and 100% cases
Horseshoe kidney Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Commonly - More than 50% cases

  • Spontaneous abortion
  • Protruding tongue
  • Upper limb undergrowth
  • Anotia
  • Lower limb undergrowth
  • Mandibular aplasia
  • Absent external genitalia
  • Aplasia of the sweat glands

Rare diseases associated to CHUK gene

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


FETAL ENCASEMENT SYNDROME

Alternate names

FETAL ENCASEMENT SYNDROME Is also known as fetal encasement syndrome

Description

Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported.

Most common symptoms of FETAL ENCASEMENT SYNDROME

  • Microcephaly
  • Hyperkeratosis
  • Thin skin
  • Omphalocele
  • Horseshoe kidney


More info about FETAL ENCASEMENT SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for CHUK gene

CHUK Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CHUK gene.

More info about this panel
United States.

Arthrogryposes Panel Panel

Finland.

By Blueprint Genetics Arthrogryposes Panel that also includes the following genes: BIN1 SCO2 TGFB3 TK2 TNNI2 TNNT1 TNNT3 TPM2 TPM3 VPS33B

More info about this panel
Finland.

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel
United States.

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