Gaucher Disease, Perinatal Lethal malady
Categories: Genetic diseases, Rare diseases, Skin diseases, Metabolic diseases, Fetal diseases
Aliases & Descriptions for Gaucher Disease, Perinatal Lethal:
Orphanet epidemiological data:52
perinatal lethal gaucher disease:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood
gaucher disease, perinatal lethal:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases
Anatomical: Skin diseases
UniProtKB/Swiss-Prot:68 Gaucher disease perinatal lethal: Distinct form of Gaucher disease type 2, characterized by fetal onset. Hydrops fetalis, in utero fetal death and neonatal distress are prominent features. When hydrops is absent, neurologic involvement begins in the first week and leads to death within 3 months. Hepatosplenomegaly is a major sign, and is associated with ichthyosis, arthrogryposis, and facial dysmorphism.
MalaCards based summary: Gaucher Disease, Perinatal Lethal, also known as perinatal lethal gaucher disease, is related to gaucher's disease, and has symptoms including hydrops fetalis, thrombocytopenia and intracranial hemorrhage. An important gene associated with Gaucher Disease, Perinatal Lethal is GBA (Glucosylceramidase Beta). Affiliated tissues include skin and spleen.
OMIM:50 Perinatal lethal Gaucher disease is considered to be a distinct form of type II Gaucher disease (230900) (Mignot et... (608013) more...
Diseases related to Gaucher Disease, Perinatal Lethal via text searches within MalaCards or GeneCards Suite gene sharing:
Symptoms by clinical synopsis from OMIM:608013
Clinical features from OMIM:608013
Symptoms:52 (show all 24)
HPO human phenotypes related to Gaucher Disease, Perinatal Lethal:(show all 57)
UMLS symptoms related to Gaucher Disease, Perinatal Lethal:hepatomegaly, seizures, apathy, hypokinesia, opisthotonus, respiratory distress
MalaCards organs/tissues related to Gaucher Disease, Perinatal Lethal:34
Clinvar genetic disease variations for Gaucher Disease, Perinatal Lethal:5 (show all 16)
Search GEO for disease gene expression data for Gaucher Disease, Perinatal Lethal.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet