Glycosylphosphatidylinositol biosynthesis defect 1

Preferred Label : Glycosylphosphatidylinositol biosynthesis defect 1;

Symbol : GPIBD1;

CISMeF acronym : GPIBD1; GPID;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : GPID; Portal hypertension with seizures and/or macrocephaly; Glycosylphosphatidylinositol deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phosphatidylinositol glycan, class M gene (PIGM, 610273.0001);

Laboratory abnormalities : Decreased expression of glycosylphosphatidylinositol-linked proteins (e.g., CD59 107271 and CD24 600274) on hematopoietic cells;

Prefixed ID : #610293;

Details

Origin ID

610293;

UMLS CUI

C5201145;

Currated CISMeF NLP mapping
- Glycosylphosphatidylinositol deficiency [MeSH concept]
- Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [ICD-11 More detail]
- Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [ORDO Disease]
- Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder) [SNOMED CT concept]
- glycosylphosphatidylinositol deficiency [MeSH Supplementary Concept]
Genes related to phenotype
- Phosphatidylinositol glycan anchor biosynthesis class M protein [OMIM gene]
HPO term(s)
- Atonic seizure [HPO term]
- Autosomal recessive inheritance [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Hepatic vein thrombosis [HPO term]
- Hepatomegaly [HPO term]
- Portal hypertension [HPO term]
- Portal vein thrombosis [HPO term]
- Reduced granulocyte CD59 level [HPO term]
- Seizure [HPO term]
- Splenomegaly [HPO term]
- Venous thrombosis [HPO term]
Not associated HPO term(s)
- Abnormality of bone marrow cell morphology [HPO term]
ORDO concept(s)
- Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycosylphosphatidylinositol deficiency [MeSH concept]
- Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [ORDO Disease]
- glycosylphosphatidylinositol deficiency [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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