NAIC
MCID: NRT006
MIFTS: 26

North American Indian Childhood Cirrhosis (NAIC)

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 58 26 76 38 30 6 74
Naic 58 26 76
Hereditary North American Indian Childhood Cirrhosis 60
Cirrhosis, North American Indian Childhood Type 13
Cirrhosis, Childhood, North American Indian 41

Characteristics:

Orphanet epidemiological data:

60
hereditary north american indian childhood cirrhosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

33
north american indian childhood cirrhosis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare hepatic diseases


External Ids:

OMIM 58 604901
KEGG 38 H02194
ICD10 via Orphanet 35 K74.6
UMLS via Orphanet 75 C1858051
Orphanet 60 ORPHA168583
MedGen 43 C1858051
UMLS 74 C1858051

Summaries for North American Indian Childhood Cirrhosis

UniProtKB/Swiss-Prot : 76 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), and among its related pathways/superpathways are Ribosome biogenesis in eukaryotes and Apoptosis and Autophagy. Affiliated tissues include liver, skin and eye, and related phenotypes are portal hypertension and biliary cirrhosis

Genetics Home Reference : 26 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 : 77 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

Human phenotypes related to North American Indian Childhood Cirrhosis:

33
# Description HPO Frequency HPO Source Accession
1 portal hypertension 33 HP:0001409
2 biliary cirrhosis 33 HP:0002613
3 prolonged neonatal jaundice 33 HP:0006579

Clinical features from OMIM:

604901

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 30

Anatomical Context for North American Indian Childhood Cirrhosis

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

42
Liver, Skin, Eye

Publications for North American Indian Childhood Cirrhosis

Articles related to North American Indian Childhood Cirrhosis:

(show all 26)
# Title Authors Year
1
Drug Companies and Physicians Push For Tighter P&T Committee Standards: Changes to NAIC Model Act Would Restrict Formularies, Too. ( 27069337 )
2016
2
Analysis of protein-coding genetic variation in 60,706 humans. ( 27535533 )
2016
3
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. ( 25741868 )
2015
4
p53-mediated biliary defects caused by knockdown of cirh1a, the zebrafish homolog of the gene responsible for North American Indian Childhood Cirrhosis. ( 24147052 )
2013
5
NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing. ( 22916032 )
2012
6
NAIC draws 'blanks'. New forms, rules could hurt quality programs. ( 20821950 )
2010
7
[North American Indian childhood cirrhosis (NAIC)]. ( 18021715 )
2007
8
Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis. ( 16225863 )
2005
9
A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis. ( 12417987 )
2002
10
Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype. ( 10820129 )
2000
11
Rating firm says some HMOs not meeting NAIC financial guidelines. ( 11151846 )
2000
12
Medicare program; recognition of NAIC model standards for regulation of Medicare supplemental insurance--HCFA. Notice. ( 10338884 )
1998
13
State regulation of managed care: NAIC President Josephine Musser. Interview by John K. Iglehart. ( 9444807 )
1997
14
NAIC (National Association of Insurance Commissioners) risk-based formula may reshape risk contracting market. ( 10176631 )
1997
15
Treat providers like insurers-NAIC (National Association of Insurance Commissioners) ( 10144506 )
1995
16
Some IDSs, PHOs should follow insurance regs, NAIC recommends. ( 10151780 )
1995
17
Medicare program; HHS' recognition of NAIC Model Standards (National Association of Insurance Commissioners) for regulation of Medigap policies--HCFA. Notice. ( 10121190 )
1992
18
NAIC (National Association of Insurance Commissioners) chief pushes LTC reform. ( 2105265 )
1990
19
NAIC targets celebrity ads for Medigap policies. ( 3276598 )
1988
20
NAIC (National Association of Insurance Commissioners) proposal would increase hospitals' HMO contract risk. ( 3417259 )
1988
21
Health cover pooling bill gains the approval of NAIC. ( 10261923 )
1983
22
The National Association of Insurance Commissioners (NAIC) Medical Malpractice Closed Claim Study 1975-1978. A review of dermatologic claims. ( 7320275 )
1981
23
Dealing with unfair insurance practices -- the NAIC approach. ( 10253157 )
1981
24
NAIC study update promises new insights on patient injuries. ( 711188 )
1978
25
HMOs not regulated in all states; NAIC develops uniform model law. ( 10306670 )
1978
26
NAIC draws up model health care bill; would create uniform practices body. ( 829325 )
1976

Variations for North American Indian Childhood Cirrhosis

ClinVar genetic disease variations for North American Indian Childhood Cirrhosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 UTP4 NM_032830.2(UTP4): c.1693C> T (p.Arg565Trp) single nucleotide variant Uncertain significance rs119465999 GRCh37 Chromosome 16, 69199289: 69199289
2 UTP4 NM_032830.2(UTP4): c.1693C> T (p.Arg565Trp) single nucleotide variant Uncertain significance rs119465999 GRCh38 Chromosome 16, 69165386: 69165386

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

Pathways related to North American Indian Childhood Cirrhosis according to KEGG:

38
# Name Kegg Source Accession
1 Ribosome biogenesis in eukaryotes hsa03008

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

# Super pathways Score Top Affiliating Genes
1 11.22 NQO1 TRADD
2
Show member pathways
9.98 NQO1 TAT

GO Terms for North American Indian Childhood Cirrhosis

Biological processes related to North American Indian Childhood Cirrhosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to organic cyclic compound GO:0014070 8.96 NQO1 TAT
2 response to oxidative stress GO:0006979 8.62 NQO1 TAT

Sources for North American Indian Childhood Cirrhosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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