Diseases of the digestive system
Diseases of liver
Autosomal recessive
2p24.3
ILFS2 is an autosomal recessive disorder with an onset in infancy or early childhood. Affected patients suffer from bouts of acute liver failure during intercurrent infections. The condition is caused by mutations in the NBAS gene, which encodes a protein involved in retrograde vesicle-mediated transport from the Golgi to the endoplasmic reticulum.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 616483.1.1 | Lebanon | Male | Yes | Yes | Fatal liver failure in infancy ; Hepato... Fatal liver failure in infancy ; Hepatosplenomegaly ; Recurrent fractures ; Global developmental delay ; Axial hypotonia ; Abnormal facial shape ; Hirsutism  | NM_015909.3:c.409C>T | Homozygous | Autosomal, Recessive | Capo-Chichi et al, 2015; Mégarbané et al, 2008 | |
| 616483.1.2 | Lebanon | Female | Yes | Yes | Fatal liver failure in infancy; Hepatos... Fatal liver failure in infancy; Hepatosplenomegaly ; Osteoporosis ; Global developmental delay ; Axial hypotonia ; Abnormal facial shape ; Hirsutism | NM_015909.3:c.409C>T | Homozygous | Autosomal, Recessive | Capo-Chichi et al, 2015; Mégarbané et al, 2008 | Sister of 616483.1.1 |
| 616483.1.3 | Lebanon | Male | Yes | Yes | Fatal liver failure in infancy ; Hepato... Fatal liver failure in infancy ; Hepatosplenomegaly ; Recurrent fractures ; Global developmental delay ; Axial hypotonia ; Abnormal facial shape ; Hirsutism | NM_015909.3:c.409C>T | Homozygous | Autosomal, Recessive | Capo-Chichi et al, 2015 | Brother of 616483.1.... |