Glycogen storage disease ic

Preferred Label : Glycogen storage disease ic;

Symbol : GSD1C;

CISMeF acronym : GSD1C; GSD1D;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gsd ic;

Included titles and symbols : Glycogen storage disease id; GSD1D;

Inheritance : Autosomal recessive;

Prefixed ID : #232240;

Details

Origin ID

232240;

UMLS CUI

C0342749;

Automatic exact mappings (from CISMeF team)
- SLC37A4 wt Allele [NCIt concept]
- glycogen storage disease id [MeSH concept]
- glycogen storage disease id [MeSH Supplementary Concept]
- solute carrier family 37 member 4 [ORDO Gene]
Broader ORDO disease(s)
- Glycogen storage disease due to glucose-6-phosphatase deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Glycogen storage disease type 1c [ORDO Disease]
- Phosphate transport defect (disorder) [SNOMED CT concept]
- glycogen storage disease IC [MeSH concept]
- glycogen storage disease IC [MeSH Supplementary Concept]
DO Cross reference
- glycogen storage disease I [DO Concept]
Genes related to phenotype
- Solute carrier family 37 (glucose-6-phosphate transporter), member 4 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Chronic pancreatitis [HPO term]
- Decreased glomerular filtration rate [HPO term]
- Delayed puberty [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- Gout [HPO term]
- Hematuria [HPO term]
- Hepatoblastoma [HPO term]
- Hepatocellular carcinoma [HPO term]
- Hepatomegaly [HPO term]
- Hyperketonemia [HPO term]
- Hyperlipidemia [HPO term]
- Hypertension [HPO term]
- Hyperuricemia [HPO term]
- Hypoglycemia [HPO term]
- Ketonemia [HPO term]
- Ketosis [HPO term]
- Lactic acidosis [HPO term]
- Metabolic acidosis [HPO term]
- Proteinuria [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Reduced creatinine clearance [HPO term]
- Renal insufficiency [HPO term]
- Spider hemangioma [HPO term]
- Xanthelasma [HPO term]
- Xanthomatosis [HPO term]
Not associated HPO term(s)
- Abnormal leukocyte morphology [HPO term]
ORDO concept(s)
- Glycogen storage disease due to glucose-6-phosphatase deficiency [ORDO Disease]
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib [ORDO Disease]
See also inter- (CISMeF)
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease type 1c [ORDO Disease]
- Phosphate transport defect (disorder) [SNOMED CT concept]
- glycogen storage disease IC [MeSH Supplementary Concept]
- glycogen storage disease IC [MeSH concept]

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