Alagille syndrome due to 20p12 microdeletion

General Information (adopted from Orphanet):

Synonyms, Signs: ALAGILLE-WATSON SYNDROME
ARTERIOHEPATIC DYSPLASIA
CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS
HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC
ALAGILLE SYNDROME
ALGS1
ALGS
AWS
AHD
Syndromic bile duct paucity due to monosomy 20p12
Arteriohepatic dysplasia due to monosomy 20p12
Alagille syndrome due to monosomy 20p12
Alagille syndrome due to del(20)(p12)
Alagille-Watson syndrome due to monosomy 20p12
Number of Symptoms 67
OrphanetNr: 261600
OMIM Id: 118450
ICD-10: Q44.7
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Alagille syndrome
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare hepatic disease
 -Rare oncologic disease
 -Rare renal disease
Partial monosomy of the short arm of chromosome 20
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000089) Renal hypoplasia 78 / 7739
2
(HPO:0000076) Vesicoureteral reflux 94 / 7739
3
(HPO:0001947) Renal tubular acidosis 21 / 7739
4
(HPO:0000110) Renal dysplasia 44 / 7739
5
(HPO:0008659) Multiple small medullary renal cysts 4 / 7739
6
(HPO:0000490) Deeply set eye 131 / 7739
7
(HPO:0000337) Broad forehead 116 / 7739
8
(HPO:0000325) Triangular face 91 / 7739
9
(HPO:0005280) Depressed nasal bridge 381 / 7739
10
(HPO:0000316) Hypertelorism 644 / 7739
11
(HPO:0003189) Long nose 20 / 7739
12
(HPO:0001114) Xanthelasma 13 / 7739
13
(HPO:0000582) Upslanted palpebral fissure 185 / 7739
14
(HPO:0000486) Strabismus 576 / 7739
15
(HPO:0000482) Microcornea 102 / 7739
16
(HPO:0001492) Axenfeld anomaly 6 / 7739
17
(HPO:0000533) Chorioretinal atrophy 24 / 7739
18
(HPO:0000627) Posterior embryotoxon 15 / 7739
19
(HPO:0000585) Band keratopathy 8 / 7739
20
(HPO:0007702) Pigmentary retinal deposits 5 / 7739
21
(HPO:0000593) Abnormality of the anterior chamber 15 / 7739
22
(HPO:0000545) Myopia 286 / 7739
23
(HPO:0000518) Cataract 454 / 7739
24
(HPO:0000400) Macrotia 108 / 7739
25
(HPO:0001328) Specific learning disability 114 / 7739
26
(HPO:0001256) Intellectual disability, mild Occasional [HPO:probinson] 141 / 7739
27
(HPO:0001284) Areflexia 198 / 7739
28
(HPO:0002895) Papillary thyroid carcinoma 10 / 7739
29
(HPO:0003468) Abnormality of the vertebrae 77 / 7739
30
(HPO:0003022) Hypoplasia of the ulna 40 / 7739
31
(HPO:0009882) Short distal phalanx of finger 125 / 7739
32
(HPO:0004617) Butterfly vertebral arch 2 / 7739
33
(HPO:0000772) Abnormality of the ribs 146 / 7739
34
(HPO:0002937) Hemivertebrae 41 / 7739
35
(HPO:0001394) Cirrhosis 102 / 7739
36
(HPO:0001738) Exocrine pancreatic insufficiency 23 / 7739
37
(HPO:0006579) Prolonged neonatal jaundice 25 / 7739
38
(HPO:0001396) Cholestasis 136 / 7739
39
(HPO:0002910) Elevated hepatic transaminases 158 / 7739
40
(HPO:0006571) Reduced number of intrahepatic bile ducts 4 / 7739
41
(HPO:0001402) Hepatocellular carcinoma 25 / 7739
42
(HPO:0001508) Failure to thrive 454 / 7739
43
(HPO:0000991) Xanthomatosis 16 / 7739
44
(HPO:0001039) Atheroeruptive xanthoma 9 / 7739
45
(HPO:0001629) Ventricular septal defect 316 / 7739
46
(HPO:0001680) Coarctation of aorta 57 / 7739
47
(HPO:0004969) Peripheral pulmonary artery stenosis 9 / 7739
48
(HPO:0001636) Tetralogy of Fallot 104 / 7739
49
(HPO:0001631) Atria septal defect 274 / 7739
50
(HPO:0001297) Stroke 44 / 7739
51
(HPO:0002155) Hypertriglyceridemia 67 / 7739
52
(HPO:0003124) Hypercholesterolemia 53 / 7739
53
(OMIM) Prominent zygomatic arch 2 / 7739
54
(OMIM) Echogenic kidneys 2 / 7739
55
(MedDRA:10004685) Bilirubin conjugated increased 2 / 7739
56
(OMIM) Long nose with bulbous tip 2 / 7739
57
(OMIM) Urinary obstruction 3 / 7739
58
(OMIM) Renal involvement (in 39%) 2 / 7739
59
(HPO:0003593) Infantile onset 249 / 7739
60
(OMIM) Eccentric or ectopic pupils 2 / 7739
61
(HPO:0003829) Incomplete penetrance 85 / 7739
62
(OMIM) Extrahepatic duct involvement 2 / 7739
63
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
64
(OMIM) Choroidal folds 2 / 7739
65
(OMIM) Liver disease, progressive 3 / 7739
66
(OMIM) Renal mesangiolipidosis 2 / 7739
67
(OMIM) Anomalous optic disc 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype ...
Diagnosis OMIM Diagnosis in a proband is made if bile duct paucity is accompanied by 3 of the main 5 clinical criteria (Alagille et al., 1987). It has been suggested that family members should be considered affected if they express ...
Clinical Description OMIM In addition to neonatal jaundice, features of this syndrome include the following: in the eye, posterior embryotoxon and retinal pigmentary changes; in the heart, pulmonic valvular stenosis as well as peripheral arterial stenosis; in the bones, abnormal vertebrae ...
Molecular genetics OMIM Oda et al. (1997) and Li et al. (1997) demonstrated that Alagille syndrome is caused by mutations in the human homolog of Jagged-1 (JAG1; 601920), which encodes a ligand for NOTCH1 (190198). Oda et al. (1997) generated a ...
Population genetics OMIM Danks et al. (1977) gave an estimated minimum population frequency of 1 in 70,000 births, when ascertained by the presence of neonatal jaundice. Li et al. (1997) considered the true incidence most likely higher.