Gaucher disease, perinatal lethal

Preferred Label : Gaucher disease, perinatal lethal;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gaucher disease, collodion type;

Description : Perinatal lethal Gaucher disease is considered to be a distinct form of type II Gaucher disease (230900) (Mignot et al., 2003).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the acid beta-glucosidase gene (GBA, 606463.0004);

Laboratory abnormalities : Decreased beta-glucocerebrosidase protein and activity; Gaucher cells, diffuse, in spleen, liver, lymph nodes, bone marrow, central nervous system;

Prefixed ID : #608013;

Details

Origin ID

608013;

UMLS CUI

C1842704;

Currated CISMeF NLP mapping
- Fetal Gaucher disease [ORDO Disease]
- Gaucher's disease perinatal lethal [DO Concept]
- Perinatal lethal Gaucher disease (disorder) [SNOMED CT concept]
- Perinatal-lethal Gaucher disease [ICD-11 More detail]
- gaucher disease, perinatal lethal [MeSH concept]
- gaucher disease, perinatal lethal [MeSH Supplementary Concept]
DO Cross reference
- Gaucher's disease perinatal lethal [DO Concept]
Genes related to phenotype
- Glucosidase, beta, acid [OMIM gene]
HPO term(s)
- Akinesia [HPO term]
- Anemia [HPO term]
- Anteverted nares [HPO term]
- Apathy [HPO term]
- Apnea [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Ascites [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomegaly [HPO term]
- Congenital nonbullous ichthyosiform erythroderma [HPO term]
- Decreased body weight [HPO term]
- Decreased fetal movement [HPO term]
- Decreased spontaneous movements at birth [HPO term]
- Depressed nasal bridge [HPO term]
- Desquamation of skin soon after birth [HPO term]
- Dysphagia [HPO term]
- Everted lower lip vermilion [HPO term]
- Everted upper lip vermilion [HPO term]
- Fetal onset [HPO term]
- Flattened nasal bridge [HPO term]
- Full lips [HPO term]
- Hepatic failure [HPO term]
- Hepatomegaly [HPO term]
- Hepatosplenomegaly [HPO term]
- Histological abnormality of the skin [HPO term]
- Hyperkeratosis [HPO term]
- Hypertelorism [HPO term]
- Hypokinesia [HPO term]
- Ichthyosis [HPO term]
- Ichthyosis [HPO term]
- Intrauterine growth retardation [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Microtia [HPO term]
- Narrow mouth [HPO term]
- Neonatal death [HPO term]
- Nonimmune hydrops fetalis [HPO term]
- Open mouth [HPO term]
- Opisthotonus [HPO term]
- Petechiae [HPO term]
- Polyhydramnios [HPO term]
- Premature birth [HPO term]
- Progressive neurologic deterioration [HPO term]
- Pulmonary hypoplasia [HPO term]
- Purpura [HPO term]
- Respiratory distress [HPO term]
- Retrognathia [HPO term]
- Seizure [HPO term]
- Short nose [HPO term]
- Splenomegaly [HPO term]
- Strabismus [HPO term]
- Thoracic hypoplasia [HPO term]
- Thrombocytopenia [HPO term]
- Triangular face [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Fetal Gaucher disease [ORDO Disease]
- Gaucher disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fetal Gaucher disease [ORDO Disease]
- Gaucher's disease perinatal lethal [DO Concept]
- Perinatal lethal Gaucher disease (disorder) [SNOMED CT concept]
- Perinatal-lethal Gaucher disease [ICD-11 More detail]
- gaucher disease, perinatal lethal [MeSH Supplementary Concept]
- gaucher disease, perinatal lethal [MeSH concept]

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