Alagille syndrome is a multi-system disorder that is mainly characterised by liver damage triggered by anomalies in the bile ducts. The disease is caused by mutations in either the Jagged-1 (JAG1) or Notch-2 (NOTCH2) genes.
Congenital malformations, deformations and chromosomal abnormalities
Autosomal dominant
20p12.2
Alagille syndrome is a multi-system disorder that is mainly characterised by liver damage triggered by anomalies in the bile ducts. The disease is caused by mutations in either the Jagged-1 (JAG1) or Notch-2 (NOTCH2) genes.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 118450.1.1 | Lebanon | Male | Yes | Hepatic failure; Mild global developmen... Hepatic failure; Mild global developmental delay; Peripheral pulmonary artery stenosis; Failure to thrive; Broad forehead; Pointed chin; Long nose; Bulbous nose  | NM_000214.2:c.1388_1389insT | Heterozygous | Autosomal, Dominant | El-Rassy et al. 2008 | ||
| 118450.1.2 | Lebanon | Female | Yes | Mild global developmental delay ; Ele... Mild global developmental delay ; Elevated hepatic transaminase ; Broad forehead ; Pointed chin ; Long nose ; Bulbous nose | NM_000214.2:c.1388_1389insT | Heterozygous | Autosomal, Dominant | El-Rassy et al. 2008 | Sister of 118450.1.1 | |
| 118450.1.3 | Lebanon | Male | Yes | Abnormal facial shape; Rod-cone dystrop... Abnormal facial shape; Rod-cone dystrophy | NM_000214.2:c.1388_1389insT | Heterozygous | Autosomal, Dominant | El-Rassy et al. 2008 | Father of 118450.1.1 | |
| 118450.G.1 | Oman | Unknown | Yes | Hepatic Failure Hepatic Failure | NM_000214.2:c.235C>T | Heterozygous | Autosomal, Dominant | Al-Gazali and Ali, 2010 | Family with unknown ... |
El-Koofy et al, 2011, studied the frequency of clinical diagnostic criteria in patients with Alagille syndrome (AGS) in comparison to a group of children with cholestasis and neonatal hepatitis (NH).
Al-Mutawa et al. (2001) described a 13 year old girl with Alagille syndrome and highlighted the importance of providing special oral healthcare to patients with severe liver diseases.
Teebi et al. (1992) described a Syrian boy suffering from Alagille syndrome. He was found to have a de novo deletion of the short arm of chromosome 20 with a 46, XY, del (20) (p11.2) karyotype.
Pousse et al. (1993) described four cases of Alagille syndrome from a single family.