Congenital disorder of glycosylation, type iiw

Preferred Label : Congenital disorder of glycosylation, type iiw;

Symbol : CDG2W;

Type : Phenotype, molecular basis known;

Prefixed ID : #619525;

Details

Origin ID

619525;

UMLS CUI

C5561986;

Genes related to phenotype
- Solute carrier family 37 (glucose-6-phosphate transporter), member 4 [OMIM gene]
HPO term(s)
- Abnormal protein N-linked glycosylation [HPO term]
- Abnormal protein O-linked glycosylation [HPO term]
- Anemia [HPO term]
- Ankyloglossia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral choanal atresia [HPO term]
- Bile duct proliferation [HPO term]
- Bleeding with minor or no trauma [HPO term]
- Concave nasal ridge [HPO term]
- Congenital onset [HPO term]
- Delayed ability to walk [HPO term]
- Elevated circulating alanine aminotransferase concentration [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Elevated circulating aspartate aminotransferase concentration [HPO term]
- Elevated gamma-glutamyltransferase level [HPO term]
- Elevated hepatic transaminase [HPO term]
- Facial asymmetry [HPO term]
- Failure to thrive [HPO term]
- Gastroesophageal reflux [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- Hypertelorism [HPO term]
- Hypofibrinogenemia [HPO term]
- Hypotonia [HPO term]
- Increased hepatic echogenicity [HPO term]
- Infantile onset [HPO term]
- Inguinal hernia [HPO term]
- Juvenile onset [HPO term]
- Low-set ears [HPO term]
- Membranoproliferative glomerulonephritis [HPO term]
- Microcytic anemia [HPO term]
- Micrognathia [HPO term]
- Microscopic hematuria [HPO term]
- Middle age onset [HPO term]
- Moderate albuminuria [HPO term]
- Narrow chest [HPO term]
- Narrow face [HPO term]
- Osteoporosis [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Pes planus [HPO term]
- Pointed chin [HPO term]
- Prolonged neonatal jaundice [HPO term]
- Prolonged partial thromboplastin time [HPO term]
- Prolonged prothrombin time [HPO term]
- Recurrent otitis media [HPO term]
- Reduced antithrombin III activity [HPO term]
- Reduced coagulation factor V activity [HPO term]
- Reduced factor IX activity [HPO term]
- Reduced factor VII activity [HPO term]
- Reduced factor XI activity [HPO term]
- Reduced factor XII activity [HPO term]
- Reduced factor XIII activity [HPO term]
- Scoliosis [HPO term]
- Splenomegaly [HPO term]
- Strabismus [HPO term]
- Supernumerary tooth [HPO term]
- Tetralogy of Fallot [HPO term]
- Thrombocytopenia [HPO term]
- Type I diabetes mellitus [HPO term]
- Type II transferrin isoform profile [HPO term]
- Underdeveloped nasal alae [HPO term]
- Ventricular septal defect [HPO term]
- Vomiting [HPO term]
- Wide nose [HPO term]
- Young adult onset [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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