NAIC
MCID: NRT006
MIFTS: 30

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 57 25 75 37 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
KEGG 37 H02194
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), 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 : 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

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

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:

(show all 22)
# 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
p53-mediated biliary defects caused by knockdown of cirh1a, the zebrafish homolog of the gene responsible for North American Indian Childhood Cirrhosis. ( 24147052 )
2013
3
NAIC draws 'blanks'. New forms, rules could hurt quality programs. ( 20821950 )
2010
4
[North American Indian childhood cirrhosis (NAIC)]. ( 18021715 )
2007
5
Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis. ( 16225863 )
2005
6
Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype. ( 10820129 )
2000
7
Rating firm says some HMOs not meeting NAIC financial guidelines. ( 11151846 )
2000
8
Medicare program; recognition of NAIC model standards for regulation of Medicare supplemental insurance--HCFA. Notice. ( 10338884 )
1998
9
State regulation of managed care: NAIC President Josephine Musser. Interview by John K. Iglehart. ( 9444807 )
1997
10
NAIC (National Association of Insurance Commissioners) risk-based formula may reshape risk contracting market. ( 10176631 )
1997
11
Treat providers like insurers-NAIC (National Association of Insurance Commissioners) ( 10144506 )
1995
12
Some IDSs, PHOs should follow insurance regs, NAIC recommends. ( 10151780 )
1995
13
Medicare program; HHS' recognition of NAIC Model Standards (National Association of Insurance Commissioners) for regulation of Medigap policies--HCFA. Notice. ( 10121190 )
1992
14
NAIC (National Association of Insurance Commissioners) chief pushes LTC reform. ( 2105265 )
1990
15
NAIC targets celebrity ads for Medigap policies. ( 3276598 )
1988
16
NAIC (National Association of Insurance Commissioners) proposal would increase hospitals' HMO contract risk. ( 3417259 )
1988
17
Health cover pooling bill gains the approval of NAIC. ( 10261923 )
1983
18
The National Association of Insurance Commissioners (NAIC) Medical Malpractice Closed Claim Study 1975-1978. A review of dermatologic claims. ( 7320275 )
1981
19
Dealing with unfair insurance practices -- the NAIC approach. ( 10253157 )
1981
20
NAIC study update promises new insights on patient injuries. ( 711188 )
1978
21
HMOs not regulated in all states; NAIC develops uniform model law. ( 10306670 )
1978
22
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:

37
# 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 11.42 NQO1 TRADD
2 10.98 UTP4 WDR43
3
Show member pathways
9.98 NQO1 TAT

GO Terms for North American Indian Childhood Cirrhosis

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

# Name GO ID Score Top Affiliating Genes
1 fibrillar center GO:0001650 8.62 UTP4 WDR43

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

# Name GO ID Score Top Affiliating Genes
1 rRNA processing GO:0006364 9.32 UTP4 WDR43
2 response to organic cyclic compound GO:0014070 9.26 NQO1 TAT
3 response to oxidative stress GO:0006979 9.16 NQO1 TAT
4 ribosome biogenesis GO:0042254 8.96 UTP4 WDR43
5 response to glucocorticoid GO:0051384 8.62 HSD11B2 TAT

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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