Congenital disorder of glycosylation, type it

Preferred Label : Congenital disorder of glycosylation, type it;

Symbol : CDG1T;

CISMeF acronym : CDG1T; GSD XIV; GSD14;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : GSD14; CDGIt; Phosphoglucomutase 1 deficiency; Glycogen storage disease xiv; Pgm1 deficiency; Gsd xiv; Cdg it;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phosphoglucomutase-1 gene (PGM1, 171900.0001);

Laboratory abnormalities : Abnormal liver enzymes; Decreased phosphoglucomutase 1 (PGM1) activity (less than 10% of normal values); Abnormal isoelectric focusing of serum transferrin (type 1 pattern) Loss of complete N-glycans; Decreased antithrombin III (rare); Some increase in monosialo- and trisialotransferrin (type 1/2 pattern); Increased serum creatine kinase;

Prefixed ID : #614921;

Details

Origin ID

614921;

UMLS CUI

C2752015;

Automatic exact mappings (from CISMeF team)
- 2'-CDg [MeSH concept]
- Carbohydrate-Deficient Glycoprotein Syndrome [NCIt concept]
- Carbohydrate-deficient glycoprotein syndrome (disorder) [SNOMED CT concept]
- Congenital Disorder of Glycosylation Type If [NCIt concept]
- Congenital disorder of glycosylation [ORDO Disease]
- Congenital disorder of glycosylation type 1s (disorder) [SNOMED CT concept]
- MPDU1-CDG [ORDO Disease]
- RFT1-CDG [ORDO Disease]
- congenital disorder of glycosylation type 1F [MeSH Supplementary Concept]
- congenital disorder of glycosylation, type im [MeSH concept]
- congenital disorder of glycosylation, type im [MeSH Supplementary Concept]
- congenital disorder of glycosylation, type in [MeSH concept]
- congenital disorder of glycosylation, type in [MeSH Supplementary Concept]
- phosphomannomutase 2 [ORDO Gene]
Currated CISMeF NLP mapping
- Glycogen storage disease due to phosphoglucomutase deficiency [ICD-11 More detail]
- PGM1-CDG [ORDO Disease]
- Phosphoglucomutase 1-related congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Phosphoglucomutase-1 deficiency [ICD-11 More detail]
- congenital disorder of glycosylation It [DO Concept]
- glycogen storage disease XIV [MeSH concept]
- glycogen storage disease XIV [MeSH Supplementary Concept]
DO Cross reference
- congenital disorder of glycosylation It [DO Concept]
Genes related to phenotype
- Phosphoglucomutase 1 [OMIM gene]
HPO term(s)
- Abnormal isoelectric focusing of serum transferrin [HPO term]
- Aborted sudden cardiac death [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid uvula [HPO term]
- Blue sclerae [HPO term]
- Cardiomegaly [HPO term]
- Cerebral venous thrombosis [HPO term]
- Chronic diarrhea [HPO term]
- Chronic hepatitis [HPO term]
- Cleft palate [HPO term]
- Coarctation of aorta [HPO term]
- Decreased serum insulin-like growth factor 1 [HPO term]
- Delayed puberty [HPO term]
- Dilated cardiomyopathy [HPO term]
- Dyspnea [HPO term]
- Elevated circulating alanine aminotransferase concentration [HPO term]
- Elevated circulating aspartate aminotransferase concentration [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Elevated hepatic transaminase [HPO term]
- Exercise intolerance [HPO term]
- Fatigue [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hepatic steatosis [HPO term]
- Hepatitis [HPO term]
- Hepatomegaly [HPO term]
- Hydronephrosis [HPO term]
- Hypoglycemia [HPO term]
- Hypotonia [HPO term]
- Increased hepatic glycogen content [HPO term]
- Intrahepatic cholestasis [HPO term]
- Malignant hyperthermia [HPO term]
- Micrognathia [HPO term]
- Motor delay [HPO term]
- Muscle weakness [HPO term]
- Pierre-Robin sequence [HPO term]
- Prolonged partial thromboplastin time [HPO term]
- Prolonged prothrombin time [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Recurrent otitis media [HPO term]
- Reduced antithrombin III activity [HPO term]
- Rhabdomyolysis [HPO term]
- Short stature [HPO term]
- Sudden cardiac death [HPO term]
- Tachycardia [HPO term]
- Ventricular septal defect [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- PGM1-CDG [ORDO Disease]
See also inter- (CISMeF)
- ALG13-CDG [ORDO Disease]
- Congenital disorder of glycosylation type 1n (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease due to phosphoglucomutase deficiency [ORDO Disease]
- Glycogen storage disease due to phosphoglucomutase deficiency [ICD-11 More detail]
- PGM1-CDG [ORDO Disease]
- Phosphoglucomutase 1-related congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- glycogen storage disease XIV [MeSH concept]
- glycogen storage disease XIV [MeSH Supplementary Concept]

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