NAIC
MCID: NRT006
MIFTS: 38

North American Indian Childhood Cirrhosis (NAIC)

Categories: Liver diseases, Metabolic 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 43 72 36 29 6 70
Naic 57 43 72
Hereditary North American Indian Childhood Cirrhosis 58
Cirrhosis, North American Indian Childhood Type 13
Cirrhosis, Childhood, North American Indian 39

Characteristics:

Orphanet epidemiological data:

58
hereditary north american indian childhood cirrhosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

31
north american indian childhood cirrhosis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

OMIM® 57 604901
KEGG 36 H02194
ICD10 via Orphanet 33 K74.6
UMLS via Orphanet 71 C1858051
Orphanet 58 ORPHA168583
MedGen 41 C1858051
UMLS 70 C1858051

Summaries for North American Indian Childhood Cirrhosis

UniProtKB/Swiss-Prot : 72 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, also known as naic, is related to liver cirrhosis and cholestasis. 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 Gene Expression. Affiliated tissues include liver and brain, and related phenotypes are portal hypertension and biliary cirrhosis

MedlinePlus Genetics : 43 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.

KEGG : 36 North American Indian childhood cirrhosis (NAIC) is a severe autosomal-recessive intrahepatic cholestasis found in aboriginal children from northwestern Quebec. It typically presents with transient neonatal jaundice, in a child who is otherwise healthy, and progresses to biliary cirrhosis and portal hypertension. It has reported that a missense mutation in Cirhin causes NAIC. Cirhin/UTP4 is known to be required for ribosome biogenesis.

More information from OMIM: 604901

Related Diseases for North American Indian Childhood Cirrhosis

Diseases related to North American Indian Childhood Cirrhosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 liver cirrhosis 10.5
2 cholestasis 10.4
3 portal hypertension 10.3
4 varicose veins 10.1
5 esophageal varix 10.1
6 neonatal jaundice 10.1
7 bowen-conradi syndrome 9.8 UTP4 NOL11
8 diamond-blackfan anemia 9.4 UTP4 NOL11 FBL
9 treacher collins syndrome 1 9.1 WDR43 UTP4 UTP15 NOL11

Graphical network of the top 20 diseases related to North American Indian Childhood Cirrhosis:



Diseases related to North American Indian Childhood Cirrhosis

Symptoms & Phenotypes for North American Indian Childhood Cirrhosis

Human phenotypes related to North American Indian Childhood Cirrhosis:

31
# Description HPO Frequency HPO Source Accession
1 portal hypertension 31 HP:0001409
2 biliary cirrhosis 31 HP:0002613
3 prolonged neonatal jaundice 31 HP:0006579

Clinical features from OMIM®:

604901 (Updated 20-May-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-2 9.43 FBL UTP15 WDR43
2 Downregulation of NF-kappaB pathway after IL-1beta stimulation GR00199-A-2 9.16 FBL UTP4
3 Downregulation of NF-kappaB pathway after LMP1 stimulation GR00199-A-1 8.96 FBL UTP4
4 Nuclear 60S biogenesis defects GR00209-A-3 8.8 FBL UTP15 WDR43

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:

40
Liver, Brain

Publications for North American Indian Childhood Cirrhosis

Articles related to North American Indian Childhood Cirrhosis:

(show top 50) (show all 57)
# Title Authors PMID Year
1
A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis. 61 57
12417987 2002
2
Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype. 61 57
10820129 2000
3
Analysis of protein-coding genetic variation in 60,706 humans. 57
27535533 2016
4
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. 57
25741868 2015
5
Severe familial cholestasis in North American Indian children: a clinical model of microfilament dysfunction? 57
6894906 1981
6
Treatment patterns and clinical outcomes of chemotherapy treatment in patients with muscle-invasive or metastatic bladder cancer in the Netherlands. 61
32978455 2020
7
A medicolegal analysis of positioning-related perioperative peripheral nerve injuries occurring between 1996 and 2015. 61
31128482 2019
8
Assessment of Health Facilities for Airborne Infection Control Practices and Adherence to National Airborne Infection Control Guidelines: A Study from Kerala, Southern India. 61
31728084 2019
9
Serious misdiagnosis-related harms in malpractice claims: The "Big Three" - vascular events, infections, and cancers. 61
31535832 2019
10
Awareness of health care workers, patients and visitors regarding air borne infection control - A descriptive study from a Tertiary Care Centre in Kerala, southern India. 61
29579433 2018
11
Quantum Language of MicroRNA: Application for New Cancer Therapeutic Targets. 61
29435930 2018
12
FDG-PET/CT for response evaluation of invasive bladder cancer following neoadjuvant chemotherapy. 61
28674853 2017
13
Outcome of Neoadjuvant Intra-Arterial Chemotherapy and Radical Hysterectomy for Treatment of Bulky Stage IB to Stage IIB Uterine Cervical Cancer: Can Postoperative Irradiation Be Avoided? 61
27258731 2016
14
Drug Companies and Physicians Push For Tighter P&T Committee Standards: Changes to NAIC Model Act Would Restrict Formularies, Too. 61
27069337 2016
15
A Patient Reported Experience Measure (PREM) for use by older people in community services. 61
25712515 2015
16
Human diseases of the SSU processome. 61
24240090 2014
17
Neoadjuvant intra-arterial chemotherapy in patients with primary lacrimal adenoid cystic carcinoma. 61
25609190 2014
18
Did they come to the dance? Insurer participation in exchanges. 61
25526390 2014
19
Trend analysis of key solvency ratios for health plans in Medicaid managed care. 61
24199519 2013
20
p53-mediated biliary defects caused by knockdown of cirh1a, the zebrafish homolog of the gene responsible for North American Indian Childhood Cirrhosis. 61
24147052 2013
21
NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing. 61
22916032 2012
22
Financial performance of health plans in Medicaid managed care. 61
24800142 2012
23
Noise-assisted instantaneous coherence analysis of brain connectivity. 61
22690209 2012
24
NAIC draws 'blanks'. New forms, rules could hurt quality programs. 61
20821950 2010
25
The C-terminus of Utp4, mutated in childhood cirrhosis, is essential for ribosome biogenesis. 61
20385600 2010
26
Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1. 61
19732766 2009
27
Postural control in patients with liver cirrhosis: a posturographic study. 61
19242358 2009
28
Long-term follow-up of neoadjuvant intraarterial chemotherapy using an original four-lumen double-balloon (4L-DB) catheter for locally advanced uterine cervical cancer. 61
19225926 2009
29
[North American Indian childhood cirrhosis (NAIC)]. 61
18021715 2007
30
Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis. 61
16225863 2005
31
Population history and its impact on medical genetics in Quebec. 61
16143014 2005
32
Comparative study of chemoradiation and neoadjuvant chemotherapy effects before radical hysterectomy in stage IB-IIB bulky cervical cancer and with tumor diameter greater than 4 cm. 61
15882173 2005
33
Ascites after orthotopic liver transplantation in children. 61
15667616 2005
34
Molecular basis of intrahepatic cholestasis. 61
15768832 2004
35
Neoadjuvant intra-arterial chemotherapy for locally advanced uterine cervical cancer: clinical efficacy and factors influencing response. 61
14562970 2003
36
Rating firm says some HMOs not meeting NAIC financial guidelines. 61
11151846 2000
37
North American Indian cirrhosis in children: a review of 30 cases. 61
11045837 2000
38
Neoadjuvant intraarterial infusion chemotherapy in patients with stage IB2-IIIB cervical cancer. 61
10785476 2000
39
Medicare program; recognition of NAIC model standards for regulation of Medicare supplemental insurance--HCFA. Notice. 61
10338884 1998
40
State regulation of managed care: NAIC President Josephine Musser. Interview by John K. Iglehart. 61
9444807 1997
41
NAIC (National Association of Insurance Commissioners) risk-based formula may reshape risk contracting market. 61
10176631 1997
42
State insurance regulation of provider-sponsored organizations. 61
10168437 1997
43
Some IDSs, PHOs should follow insurance regs, NAIC recommends. 61
10151780 1995
44
Treat providers like insurers-NAIC (National Association of Insurance Commissioners) 61
10144506 1995
45
Medicare program; HHS' recognition of NAIC Model Standards (National Association of Insurance Commissioners) for regulation of Medigap policies--HCFA. Notice. 61
10121190 1992
46
The effect of owning private long-term care insurance policies on out-of-pocket costs. 61
1899410 1991
47
NAIC (National Association of Insurance Commissioners) chief pushes LTC reform. 61
2105265 1990
48
NAIC (National Association of Insurance Commissioners) proposal would increase hospitals' HMO contract risk. 61
3417259 1988
49
NAIC targets celebrity ads for Medigap policies. 61
3276598 1988
50
Erythrocyte cationic transport systems in normal male and female volunteers. 61
2985891 1985

Variations for North American Indian Childhood Cirrhosis

ClinVar genetic disease variations for North American Indian Childhood Cirrhosis:

6 (show all 39)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UTP4 NM_032830.3(UTP4):c.1165-7T>C SNV Uncertain significance 885207 GRCh37: 16:69189767-69189767
GRCh38: 16:69155864-69155864
2 UTP4 NM_032830.3(UTP4):c.1183T>C (p.Cys395Arg) SNV Uncertain significance 885208 GRCh37: 16:69189792-69189792
GRCh38: 16:69155889-69155889
3 UTP4 NM_032830.3(UTP4):c.1249C>T (p.Arg417Trp) SNV Uncertain significance 885209 GRCh37: 16:69189858-69189858
GRCh38: 16:69155955-69155955
4 UTP4 NM_032830.3(UTP4):c.1287+6T>C SNV Uncertain significance 885212 GRCh37: 16:69189902-69189902
GRCh38: 16:69155999-69155999
5 UTP4 NM_032830.3(UTP4):c.1308C>T (p.Phe436=) SNV Uncertain significance 885213 GRCh37: 16:69191007-69191007
GRCh38: 16:69157104-69157104
6 UTP4 NM_032830.3(UTP4):c.-2-3T>C SNV Uncertain significance 886048 GRCh37: 16:69167358-69167358
GRCh38: 16:69133455-69133455
7 UTP4 NM_032830.3(UTP4):c.1376G>A (p.Gly459Glu) SNV Uncertain significance 886102 GRCh37: 16:69191075-69191075
GRCh38: 16:69157172-69157172
8 UTP4 NM_032830.3(UTP4):c.1444+6A>C SNV Uncertain significance 886103 GRCh37: 16:69191149-69191149
GRCh38: 16:69157246-69157246
9 UTP4 NM_032830.3(UTP4):c.1451T>G (p.Val484Gly) SNV Uncertain significance 886104 GRCh37: 16:69194265-69194265
GRCh38: 16:69160362-69160362
10 UTP4 NM_032830.3(UTP4):c.1536C>T (p.Asn512=) SNV Uncertain significance 886105 GRCh37: 16:69194350-69194350
GRCh38: 16:69160447-69160447
11 UTP4 NM_032830.3(UTP4):c.1610A>G (p.Asn537Ser) SNV Uncertain significance 886106 GRCh37: 16:69197044-69197044
GRCh38: 16:69163141-69163141
12 UTP4 NM_032830.3(UTP4):c.1621C>T (p.Leu541Phe) SNV Uncertain significance 886107 GRCh37: 16:69197055-69197055
GRCh38: 16:69163152-69163152
13 UTP4 NM_032830.3(UTP4):c.1677G>T (p.Gln559His) SNV Uncertain significance 886108 GRCh37: 16:69199273-69199273
GRCh38: 16:69165370-69165370
14 UTP4 NM_032830.3(UTP4):c.57C>A (p.Ile19=) SNV Uncertain significance 887041 GRCh37: 16:69167419-69167419
GRCh38: 16:69133516-69133516
15 UTP4 NM_032830.3(UTP4):c.302G>T (p.Gly101Val) SNV Uncertain significance 710240 rs144369314 GRCh37: 16:69170741-69170741
GRCh38: 16:69136838-69136838
16 UTP4 NM_032830.3(UTP4):c.418A>G (p.Asn140Asp) SNV Uncertain significance 887043 GRCh37: 16:69171770-69171770
GRCh38: 16:69137867-69137867
17 UTP4 NM_032830.3(UTP4):c.531C>T (p.Ser177=) SNV Uncertain significance 887044 GRCh37: 16:69177085-69177085
GRCh38: 16:69143182-69143182
18 UTP4 NM_032830.3(UTP4):c.632G>A (p.Ser211Asn) SNV Uncertain significance 887046 GRCh37: 16:69177186-69177186
GRCh38: 16:69143283-69143283
19 UTP4 NM_032830.3(UTP4):c.739-6C>G SNV Uncertain significance 888312 GRCh37: 16:69184434-69184434
GRCh38: 16:69150531-69150531
20 UTP4 NM_032830.3(UTP4):c.754G>T (p.Val252Leu) SNV Uncertain significance 888313 GRCh37: 16:69184455-69184455
GRCh38: 16:69150552-69150552
21 UTP4 NM_032830.3(UTP4):c.846G>A (p.Pro282=) SNV Uncertain significance 888314 GRCh37: 16:69184547-69184547
GRCh38: 16:69150644-69150644
22 UTP4 NM_032830.3(UTP4):c.871C>T (p.Arg291Cys) SNV Uncertain significance 888315 GRCh37: 16:69184572-69184572
GRCh38: 16:69150669-69150669
23 UTP4 NM_032830.3(UTP4):c.872G>A (p.Arg291His) SNV Uncertain significance 888316 GRCh37: 16:69184573-69184573
GRCh38: 16:69150670-69150670
24 UTP4 NM_032830.3(UTP4):c.1002+15C>T SNV Uncertain significance 888317 GRCh37: 16:69184822-69184822
GRCh38: 16:69150919-69150919
25 UTP4 NM_032830.3(UTP4):c.1083A>G (p.Gly361=) SNV Uncertain significance 888318 GRCh37: 16:69187567-69187567
GRCh38: 16:69153664-69153664
26 UTP4 NM_032830.3(UTP4):c.1904G>A (p.Arg635Lys) SNV Uncertain significance 887108 GRCh37: 16:69201048-69201048
GRCh38: 16:69167145-69167145
27 UTP4 NM_032830.3(UTP4):c.*67A>C SNV Uncertain significance 887110 GRCh37: 16:69202907-69202907
GRCh38: 16:69169004-69169004
28 UTP4 NM_032830.3(UTP4):c.635T>C (p.Val212Ala) SNV Likely benign 887047 GRCh37: 16:69177189-69177189
GRCh38: 16:69143286-69143286
29 UTP4 NM_032830.3(UTP4):c.1164+8A>G SNV Likely benign 717483 rs112053857 GRCh37: 16:69188368-69188368
GRCh38: 16:69154465-69154465
30 UTP4 NM_032830.3(UTP4):c.1287+4A>G SNV Likely benign 885211 GRCh37: 16:69189900-69189900
GRCh38: 16:69155997-69155997
31 UTP4 NM_032830.3(UTP4):c.615C>T (p.Ser205=) SNV Likely benign 887045 GRCh37: 16:69177169-69177169
GRCh38: 16:69143266-69143266
32 UTP4 NM_032830.3(UTP4):c.1788C>T (p.Ile596=) SNV Benign 725987 rs75998507 GRCh37: 16:69199384-69199384
GRCh38: 16:69165481-69165481
33 UTP4 NM_032830.3(UTP4):c.1693C>T (p.Arg565Trp) SNV Benign 3194 rs119465999 GRCh37: 16:69199289-69199289
GRCh38: 16:69165386-69165386
34 UTP4 NM_032830.3(UTP4):c.270G>A (p.Ala90=) SNV Benign 887042 GRCh37: 16:69170709-69170709
GRCh38: 16:69136806-69136806
35 UTP4 NM_032830.3(UTP4):c.1313G>A (p.Arg438His) SNV Benign 714710 rs8056684 GRCh37: 16:69191012-69191012
GRCh38: 16:69157109-69157109
36 UTP4 NM_032830.3(UTP4):c.1257T>C (p.Asn419=) SNV Benign 885210 GRCh37: 16:69189866-69189866
GRCh38: 16:69155963-69155963
37 UTP4 NM_032830.3(UTP4):c.*68A>G SNV Benign 887111 GRCh37: 16:69202908-69202908
GRCh38: 16:69169005-69169005
38 UTP4 NM_032830.3(UTP4):c.714C>T (p.Asp238=) SNV Benign 888311 GRCh37: 16:69177268-69177268
GRCh38: 16:69143365-69143365
39 UTP4 NM_032830.3(UTP4):c.1906C>T (p.Arg636Cys) SNV Benign 887109 GRCh37: 16:69201050-69201050
GRCh38: 16:69167147-69167147

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:

36
# 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
Show member pathways
12.99 WDR43 UTP4 UTP15 NOL11 FBL
2
Show member pathways
12.16 WDR43 UTP4 UTP15 NOL11 FBL
3 10.97 WDR43 UTP4 UTP15 FBL

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 nucleoplasm GO:0005654 9.72 WDR43 UTP4 UTP15 NOL11 FBL
2 nucleolus GO:0005730 9.55 WDR43 UTP4 UTP15 NOL11 FBL
3 small-subunit processome GO:0032040 9.26 UTP4 FBL
4 t-UTP complex GO:0034455 8.96 UTP4 NOL11
5 fibrillar center GO:0001650 8.92 WDR43 UTP4 UTP15 FBL

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

# Name GO ID Score Top Affiliating Genes
1 maturation of SSU-rRNA GO:0030490 9.32 UTP4 NOL11
2 positive regulation of transcription by RNA polymerase I GO:0045943 9.26 WDR43 UTP15
3 ribosome biogenesis GO:0042254 9.26 WDR43 UTP4 UTP15 NOL11
4 positive regulation of rRNA processing GO:2000234 9.16 WDR43 UTP15
5 rRNA processing GO:0006364 9.02 WDR43 UTP4 UTP15 NOL11 FBL

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

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.02 WDR43 UTP4 UTP15 NOL11 FBL

Sources for North American Indian Childhood Cirrhosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....