MCID: NRT006
MIFTS: 23

North American Indian Childhood Cirrhosis

Categories: Liver diseases, Rare diseases

Aliases & Classifications for North American Indian Childhood Cirrhosis

MalaCards integrated aliases for North American Indian Childhood Cirrhosis:

Name: North American Indian Childhood Cirrhosis 57 25 75 29 6 73
Naic 57 25 75
Hereditary North American Indian Childhood Cirrhosis 59
Cirrhosis, North American Indian Childhood Type 13
Cirrhosis, Childhood, North American Indian 40

Characteristics:

Orphanet epidemiological data:

59
hereditary north american indian childhood cirrhosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
north american indian childhood cirrhosis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare hepatic diseases


External Ids:

OMIM 57 604901
Orphanet 59 ORPHA168583
ICD10 via Orphanet 34 K74.6
UMLS via Orphanet 74 C1858051
MedGen 42 C1858051
UMLS 73 C1858051

Summaries for North American Indian Childhood Cirrhosis

UniProtKB/Swiss-Prot : 75 North American Indian childhood cirrhosis: Severe autosomal recessive intrahepatic cholestasis, originally described in Ojibway-Cree children from northwestern Quebec. NAIC typically presents with transient neonatal jaundice, in a child who is otherwise healthy, and progresses to biliary cirrhosis and portal hypertension. Biochemical and histopathological features suggest involvement of the bile ducts rather than of the bile canaliculi. They include elevated gamma glutamyltransferase and alkaline phosphatase levels, and, typically, marked fibrosis around bile ducts. Clinically, NAIC is distinct from other nonsyndromic familial cholestases because of its marked cholangiopathic features and severe degree of fibrosis on liver histology.

MalaCards based summary : North American Indian Childhood Cirrhosis, is also known as naic. An important gene associated with North American Indian Childhood Cirrhosis is UTP4 (UTP4, Small Subunit Processome Component). Affiliated tissues include liver, skin and eye, and related phenotypes are portal hypertension and biliary cirrhosis

Genetics Home Reference : 25 North American Indian childhood cirrhosis is a rare liver disorder that occurs in children. The liver malfunction causes yellowing of the skin and whites of the eyes (jaundice) in affected infants. The disorder worsens with age, progressively damaging the liver and leading to chronic, irreversible liver disease (cirrhosis) in childhood or adolescence. Unless it is treated with liver transplantation, North American Indian childhood cirrhosis typically causes life-threatening complications including liver failure.

Wikipedia : 76 North American Indian childhood cirrhosis (NAIC) is a disease in humans that can affect Ojibway-Cree... more...

Description from OMIM: 604901

Related Diseases for North American Indian Childhood Cirrhosis

Symptoms & Phenotypes for North American Indian Childhood Cirrhosis

Clinical features from OMIM:

604901

Human phenotypes related to North American Indian Childhood Cirrhosis:

32
# Description HPO Frequency HPO Source Accession
1 portal hypertension 32 HP:0001409
2 biliary cirrhosis 32 HP:0002613
3 prolonged neonatal jaundice 32 HP:0006579

GenomeRNAi Phenotypes related to North American Indian Childhood Cirrhosis according to GeneCards Suite gene sharing:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.6 HSD11B2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.6 HSD11B2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.6 UTP4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.6 UTP4 CDH3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.6 HSD11B2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.6 HSD11B2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.6 UTP4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.6 UTP4
9 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.6 CDH3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.6 HSD11B2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-51 9.6 HSD11B2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.6 HSD11B2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.6 CDH3 HSD11B2 UTP4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.6 HSD11B2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.6 CDH3
16 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.6 CDH3

Drugs & Therapeutics for North American Indian Childhood Cirrhosis

Search Clinical Trials , NIH Clinical Center for North American Indian Childhood Cirrhosis

Genetic Tests for North American Indian Childhood Cirrhosis

Genetic tests related to North American Indian Childhood Cirrhosis:

# Genetic test Affiliating Genes
1 North American Indian Childhood Cirrhosis 29 UTP4

Anatomical Context for North American Indian Childhood Cirrhosis

MalaCards organs/tissues related to North American Indian Childhood Cirrhosis:

41
Liver, Skin, Eye

Publications for North American Indian Childhood Cirrhosis

Articles related to North American Indian Childhood Cirrhosis:

# Title Authors Year
1
p53-mediated biliary defects caused by knockdown of cirh1a, the zebrafish homolog of the gene responsible for North American Indian Childhood Cirrhosis. ( 24147052 )
2013
2
NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing. ( 22916032 )
2012
3
[North American Indian childhood cirrhosis (NAIC)]. ( 18021715 )
2007
4
Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis. ( 16225863 )
2005
5
A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis. ( 12417987 )
2002
6
Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype. ( 10820129 )
2000

Variations for North American Indian Childhood Cirrhosis

Expression for North American Indian Childhood Cirrhosis

Search GEO for disease gene expression data for North American Indian Childhood Cirrhosis.

Pathways for North American Indian Childhood Cirrhosis

GO Terms for North American Indian Childhood Cirrhosis

Sources for North American Indian Childhood Cirrhosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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