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.
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
Search interest in CHUK
Potential gene panels for CHUK gene
CHUK Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CHUK gene.
More info about this panelArthrogryposes Panel Panel
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 panelTempus xO assay Panel
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 panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like BUB1B MYH10 CPA6 CRB1 ADCY5 NPHS2 TPI1