Acute infantile liver failure-multisystemic involvement syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 20
OrphanetNr: 370088
OMIM Id: 615438
615486
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic parenchymatous liver disease
 -Rare genetic disease
Rare parenchymatous liver disease
 -Rare hepatic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002007) Frontal bossing rare [HPO:skoehler] 366 / 7739
2
 (HPO:0000252) Microcephaly 832 / 7739
3
 (HPO:0000293) Full cheeks rare [HPO:skoehler] 85 / 7739
4
 (HPO:0000407) Sensorineural hearing impairment rare [HPO:skoehler] 524 / 7739
5
 (HPO:0001250) Seizures 1245 / 7739
6
 (HPO:0002194) Delayed gross motor development rare [HPO:skoehler] 37 / 7739
7
 (HPO:0001263) Global developmental delay 853 / 7739
8
 (HPO:0010511) Long toe rare [HPO:skoehler] 9 / 7739
9
 (HPO:0100807) Long fingers rare [HPO:skoehler] 23 / 7739
10
 (HPO:0001397) Hepatic steatosis 75 / 7739
11
 (HPO:0002910) Elevated hepatic transaminases 158 / 7739
12
 (HPO:0006554) Acute hepatic failure 20 / 7739
13
 (HPO:0002240) Hepatomegaly 467 / 7739
14
 (HPO:0001508) Failure to thrive 454 / 7739
15
 (HPO:0001972) Macrocytic anemia 26 / 7739
16
 (HPO:0003256) Abnormality of the coagulation cascade 19 / 7739
17
 (HPO:0001903) Anemia 289 / 7739
18
 (HPO:0003128) Lactic acidosis 116 / 7739
19
 (HPO:0001252) Muscular hypotonia 990 / 7739
20
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: