MCID: FVR002
MIFTS: 10

Fever-Associated Acute Infantile Liver Failure Syndrome

Categories: Liver diseases, Rare diseases

Aliases & Classifications for Fever-Associated Acute Infantile Liver Failure Syndrome

MalaCards integrated aliases for Fever-Associated Acute Infantile Liver Failure Syndrome:

Name: Fever-Associated Acute Infantile Liver Failure Syndrome 58 6

Classifications:

Orphanet: 58  
Rare hepatic diseases


External Ids:

Orphanet 58 ORPHA464724

Summaries for Fever-Associated Acute Infantile Liver Failure Syndrome

MalaCards based summary : Fever-Associated Acute Infantile Liver Failure Syndrome is related to acute liver failure. An important gene associated with Fever-Associated Acute Infantile Liver Failure Syndrome is NBAS (NBAS Subunit Of NRZ Tethering Complex), and among its related pathways/superpathways are Vesicle-mediated transport and Golgi-to-ER retrograde transport. Affiliated tissues include liver.

Related Diseases for Fever-Associated Acute Infantile Liver Failure Syndrome

Diseases related to Fever-Associated Acute Infantile Liver Failure Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acute liver failure 9.2 RINT1 NBAS

Symptoms & Phenotypes for Fever-Associated Acute Infantile Liver Failure Syndrome

Drugs & Therapeutics for Fever-Associated Acute Infantile Liver Failure Syndrome

Search Clinical Trials , NIH Clinical Center for Fever-Associated Acute Infantile Liver Failure Syndrome

Genetic Tests for Fever-Associated Acute Infantile Liver Failure Syndrome

Anatomical Context for Fever-Associated Acute Infantile Liver Failure Syndrome

MalaCards organs/tissues related to Fever-Associated Acute Infantile Liver Failure Syndrome:

40
Liver

Publications for Fever-Associated Acute Infantile Liver Failure Syndrome

Variations for Fever-Associated Acute Infantile Liver Failure Syndrome

ClinVar genetic disease variations for Fever-Associated Acute Infantile Liver Failure Syndrome:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NBAS NM_015909.4(NBAS):c.2950del (p.Ile984fs)deletion Pathogenic/Likely pathogenic 501319 rs776797592 2:15542413-15542413 2:15402289-15402289
2 NBAS NM_015909.4(NBAS):c.1987C>T (p.Gln663Ter)SNV Likely pathogenic 517623 rs761330483 2:15607819-15607819 2:15467695-15467695

Expression for Fever-Associated Acute Infantile Liver Failure Syndrome

Search GEO for disease gene expression data for Fever-Associated Acute Infantile Liver Failure Syndrome.

Pathways for Fever-Associated Acute Infantile Liver Failure Syndrome

Pathways related to Fever-Associated Acute Infantile Liver Failure Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.06 RINT1 NBAS
2
Show member pathways
11.24 RINT1 NBAS

GO Terms for Fever-Associated Acute Infantile Liver Failure Syndrome

Cellular components related to Fever-Associated Acute Infantile Liver Failure Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 8.96 RINT1 NBAS
2 Dsl1/NZR complex GO:0070939 8.62 RINT1 NBAS

Biological processes related to Fever-Associated Acute Infantile Liver Failure Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 8.96 RINT1 NBAS
2 retrograde vesicle-mediated transport, Golgi to ER GO:0006890 8.62 RINT1 NBAS

Sources for Fever-Associated Acute Infantile Liver Failure Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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