Endocrine, nutritional and metabolic diseases
Metabolic disorders
Autosomal recessive
1q22
As the name suggests, this is a severe lethal form of Gaucher disease that manifests in the fetus and results in perinatal or neonatal death. Features of the condition include non-immune hydrops fetalis, hepatosplenomegaly, ichthyosis, and arthrogryposis.
The condition results from mutations in the GBA gene that codes for glucocerebrosidase, a lysosomal enzyme. This in turn leads to the accumulation of beta-glucocerebrosidase deposits in the the liver, spleen and bone marrow cells.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 608013.1.1 | Lebanon | Male | Yes | No | Congenital nonbullous ichthyosiform eryt... Congenital nonbullous ichthyosiform erythroderma; Hepatosplenomegaly; Congenital thrombocytopenia; Neonatal death;  | NM_000157.3:c.475C>T, NM_000157.3:c.703T>C | Heterozygous | Autosomal, Recessive | Lui et al, 1998; Stone et al, 2000 | |
| 608013.1.2 | Lebanon | Male | Yes | No | Congenital nonbullous ichthyosiform eryt... Congenital nonbullous ichthyosiform erythroderma; Multiple joint contractures; Hepatosplenomegaly; Congenital thrombocytopenia; Neonatal death; ; | NM_000157.3:c.475C>T, NM_000157.3:c.703T>C | Heterozygous | Autosomal, Recessive | Lui et al, 1998; Stone et al, 2000 | Sibling of 608013.1.... |
| 608013.1.3 | Lebanon | Female | Yes | Yes | Neonatal death Neonatal death | NM_000157.3:c.703T>C | Homozygous | Autosomal, Recessive | Stone et al, 2000 | First cousin of 6080... |
| 608013.2 | Lebanon | Male | No | Yes | Hydrops fetalis; Hepatomegaly; Decreas... Hydrops fetalis; Hepatomegaly; Decreased fetal movement; Neonatal death; | NM_000157.3:c.1448T>C, NM_000157.3:c.1483G>C, NM_000157.3:c.1497G>C | Homozygous | Autosomal, Recessive | Stone et al, 2000 |