NSC
MCID: SCL056
MIFTS: 36

Sclerosing Cholangitis, Neonatal (NSC)

Categories: Genetic diseases, Liver diseases

Aliases & Classifications for Sclerosing Cholangitis, Neonatal

MalaCards integrated aliases for Sclerosing Cholangitis, Neonatal:

Name: Sclerosing Cholangitis, Neonatal 57 75 29 6
Nsc 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
progressive disorder
most patients require liver transplant in the first or second decades


HPO:

32
sclerosing cholangitis, neonatal:
Onset and clinical course infantile onset progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Sclerosing Cholangitis, Neonatal

OMIM : 57 Neonatal sclerosing cholangitis is a rare autosomal recessive form of severe liver disease with onset in infancy. Affected infants have jaundice, cholestasis, acholic stools, and progressive liver dysfunction resulting in fibrosis and cirrhosis; most require liver transplantation in the first few decades of life. Cholangiography shows patent biliary ducts, but there are bile duct irregularities (summary by Girard et al., 2016; Grammatikopoulos et al., 2016). (617394)

MalaCards based summary : Sclerosing Cholangitis, Neonatal, also known as nsc, is related to ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis and leukemia. An important gene associated with Sclerosing Cholangitis, Neonatal is DCDC2 (Doublecortin Domain Containing 2). Affiliated tissues include liver, lung and cervix, and related phenotypes are splenomegaly and hepatomegaly

UniProtKB/Swiss-Prot : 75 Sclerosing cholangitis, neonatal: An autosomal recessive form of liver disease with onset in infancy. Affected infants have jaundice, cholestasis, acholic stools, and progressive liver dysfunction resulting in fibrosis and cirrhosis. Cholangiography shows patent biliary ducts, but there are bile duct irregularities.

Related Diseases for Sclerosing Cholangitis, Neonatal

Diseases related to Sclerosing Cholangitis, Neonatal via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 12.0
2 leukemia 10.4
3 xq12-q13.3 duplication syndrome 10.3
4 ovarian cancer 10.3
5 squamous cell carcinoma 10.3
6 colorectal cancer 10.2
7 renal cell carcinoma, nonpapillary 10.2
8 lung cancer 10.2
9 sarcoma 10.2
10 hypoxia 10.2
11 small cell cancer of the lung 10.2
12 acute leukemia 10.2
13 ovarian cancer 1 10.1
14 melanoma 10.1
15 breast cancer 10.1
16 prostate cancer 10.1
17 adenocarcinoma 10.1
18 glioblastoma 10.1
19 hepatocellular carcinoma 10.0
20 suppressor of tumorigenicity 3 10.0
21 neuroblastoma 10.0
22 lymphoma 10.0
23 glioma 10.0
24 leukemia, chronic lymphocytic 2 9.9
25 leukemia, chronic lymphocytic 9.9
26 myeloma, multiple 9.9
27 osteogenic sarcoma 9.9
28 cervical cancer 9.9
29 leukemia, chronic myeloid 9.9
30 adult t-cell leukemia 9.9
31 small cell carcinoma 9.9
32 lymphocytic leukemia 9.9
33 t-cell leukemia 9.9
34 leukemia, b-cell, chronic 9.9
35 sclerosing cholangitis 9.9 CLDN1 DCDC2
36 cholangitis 9.9 CLDN1 DCDC2
37 alzheimer disease 9.8
38 bladder cancer 9.8
39 glioma susceptibility 1 9.8
40 hydrocephalus, normal-pressure 9.8
41 squamous cell carcinoma, head and neck 9.8
42 asthma 9.8
43 leukemia, acute myeloid 9.8
44 gastric cancer 9.8
45 myelodysplastic syndrome 9.8
46 pachyonychia congenita 4 9.8
47 brain injury 9.8
48 hydrocephalus 9.8
49 pancreas adenocarcinoma 9.8
50 spinal cord injury 9.8

Graphical network of the top 20 diseases related to Sclerosing Cholangitis, Neonatal:



Diseases related to Sclerosing Cholangitis, Neonatal

Symptoms & Phenotypes for Sclerosing Cholangitis, Neonatal

Symptoms via clinical synopsis from OMIM:

57
Abdomen Spleen:
splenomegaly

Skin Nails Hair Skin:
jaundice
pruritis

Genitourinary Kidneys:
renal abnormalities (in some patients)
renal disease (in some patients)

Abdomen Gastrointestinal:
alcoholic stools
pale stools

Abdomen Liver:
hepatomegaly
portal hypertension
cirrhosis
biliary cirrhosis
cholestasis
more
Laboratory Abnormalities:
abnormal liver enzymes

Head And Neck Ears:
no hearing impairment

Genitourinary Ureters:
ureteral abnormalities (in some patients)


Clinical features from OMIM:

617394

Human phenotypes related to Sclerosing Cholangitis, Neonatal:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 hepatomegaly 32 HP:0002240
3 portal hypertension 32 HP:0001409
4 pruritus 32 HP:0000989
5 cirrhosis 32 HP:0001394
6 biliary cirrhosis 32 HP:0002613
7 jaundice 32 HP:0000952
8 sclerosing cholangitis 32 HP:0030991
9 elevated hepatic transaminase 32 HP:0002910

Drugs & Therapeutics for Sclerosing Cholangitis, Neonatal

Search Clinical Trials , NIH Clinical Center for Sclerosing Cholangitis, Neonatal

Genetic Tests for Sclerosing Cholangitis, Neonatal

Genetic tests related to Sclerosing Cholangitis, Neonatal:

# Genetic test Affiliating Genes
1 Sclerosing Cholangitis, Neonatal 29 DCDC2

Anatomical Context for Sclerosing Cholangitis, Neonatal

MalaCards organs/tissues related to Sclerosing Cholangitis, Neonatal:

41
Liver, Lung, Cervix, Brain, Colon, Spinal Cord, Prostate

Publications for Sclerosing Cholangitis, Neonatal

Articles related to Sclerosing Cholangitis, Neonatal:

(show top 50) (show all 847)
# Title Authors Year
1
Changing patterns of adult asthma incidence: results from the National Health Insurance Service-National Sample Cohort (NHIS-NSC) database in Korea. ( 30302007 )
2018
2
Evaluation of the role of an antioxidant gene in NSC-34 motor neuron-like cells as a model of a motor neuron disease. ( 30106460 )
2018
3
NSC 95397 Suppresses Proliferation and Induces Apoptosis in Colon Cancer Cells through MKP-1 and the ERK1/2 Pathway. ( 29857489 )
2018
4
Pathophysiological role of prostaglandin E2-induced up-regulation of the EP2 receptor in motor neuron-like NSC-34 cells and lumbar motor neurons in ALS model mice. ( 28687401 )
2018
5
Glutathione monoethyl ester prevents TDP-43 pathology in motor neuronal NSC-34 cells. ( 28818672 )
2018
6
Notch2 Signaling Maintains NSC Quiescence in the Murine Ventricular-Subventricular Zone. ( 29386140 )
2018
7
Establishment of a myelinating co-culture system with a motor neuron-like cell line NSC-34 and an adult rat Schwann cell line IFRS1. ( 29435762 )
2018
8
Effect of Mutated Cu, Zn Superoxide Dismutase (SOD1G93A) on Modulation of Transductional Pathway Mediated by M1 Muscarinic Receptor in SK-N-BE and NSC-34 Cells. ( 29881358 )
2018
9
Prevalence of, and risk factors for, presenting visual impairment: findings from a vision screening programme based on UK NSC guidance in a multi-ethnic population. ( 29899459 )
2018
10
Egr-1 Maintains NSC Proliferation and Its Overexpression Counteracts Cell Cycle Exit Triggered by the Withdrawal of Epidermal Growth Factor. ( 29975945 )
2018
11
Evidence of Decreased Activity in Intermediate-Conductance Calcium-Activated Potassium Channels During Retinoic Acid-Induced Differentiation in Motor Neuron-Like NSC-34 Cells. ( 30114691 )
2018
12
Cohort Profile: The National Health Insurance Service-National Sample Cohort (NHIS-NSC), South Korea. ( 26822938 )
2017
13
Brain-Derived Neurotrophic Factor Facilitates Functional Recovery from ALS-Cerebral Spinal Fluid-Induced Neurodegenerative Changes in the NSC-34 Motor Neuron Cell Line. ( 27617773 )
2017
14
Adult NSC diversity and plasticity: the role of the niche. ( 27978480 )
2017
15
Important modifications by sugammadex, a modified γ-cyclodextrin, of ion currents in differentiated NSC-34 neuronal cells. ( 28049438 )
2017
16
VEGF alleviates ALS-CSF induced cytoplasmic accumulations of TDP-43 and FUS/TLS in NSC-34 cells. ( 28163215 )
2017
17
Design, synthesis and anticancer potential of NSC-319745 hydroxamic acid derivatives as DNMT and HDAC inhibitors. ( 28419930 )
2017
18
Effects of mutant TDP-43 on the Nrf2/ARE pathway and protein expression of MafK and JDP2 in NSC-34 cells. ( 28510254 )
2017
19
Exosomes from NSC-34 Cells Transfected with hSOD1-G93A Are Enriched in miR-124 and Drive Alterations in Microglia Phenotype. ( 28567000 )
2017
20
Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells. ( 28570551 )
2017
21
Sensitivity of hiPSC-derived neural stem cells (NSC) to Pyrroloquinoline quinone depends on their developmental stage. ( 28578007 )
2017
22
Downregulation of MicroRNA-193b-3p Promotes Autophagy and Cell Survival by Targeting TSC1/mTOR Signaling in NSC-34 Cells. ( 28611587 )
2017
23
Prostaglandin E2 facilitates neurite outgrowth in a motor neuron-like cell line, NSC-34. ( 28966102 )
2017
24
Extrinsic Apoptosis Pathway Altered by Glycogen Synthase Kinase-3β Inhibitor Influences the Net Drug Effect on NSC-34 Motor Neuron-Like Cell Survival. ( 29082245 )
2017
25
A New Concept of the Old Inhibitor NSC 74859 in Alleviating Cardiac Allograft Rejection and Extending Allograft Survival in Mice. ( 29097651 )
2017
26
Anti-leukemia activity of NSC-743380 in SULT1A1-expressing acute myeloid leukemia cells is associated with inhibitions of cFLIP expression and PI3K/AKT/mTOR activities. ( 29254232 )
2017
27
Conversion of National Health Insurance Service-National Sample Cohort (NHIS-NSC) Database into Observational Medical Outcomes Partnership-Common Data Model (OMOP-CDM). ( 29295138 )
2017
28
Atorvastatin Protects NSC-34 Motor Neurons Against Oxidative Stress by Activating PI3K, ERK and Free Radical Scavenging. ( 25577170 )
2016
29
Motor neuron-like NSC-34 cells as a new model for the study of vitamin D metabolism in the brain. ( 26704532 )
2016
30
Ukrain (NSC 631570) ameliorates intestinal ischemia-reperfusion-induced acute lung injury by reducing oxidative stress. ( 26773189 )
2016
31
Initial Testing of NSC 750854, a Novel Purine Analog, Against Pediatric Tumor Models by the Pediatric Preclinical Testing Program. ( 26797892 )
2016
32
Preclinical Pharmacokinetics Study of R- and S-Enantiomers of the Histone Deacetylase Inhibitor, AR-42 (NSC 731438), in Rodents. ( 26943915 )
2016
33
HPLC method development, validation, and impurity characterization of a potent antitumor indenoisoquinoline, LMP776 (NSC 725776). ( 26970596 )
2016
34
Phase Ib Trial of mFOLFOX6 and Everolimus (NSC-733504) in Patients with Metastatic Gastroesophageal Adenocarcinoma. ( 27093189 )
2016
35
Neuroprotective Effect of the Novel Compound ITH33/IQM9.21 Against Oxidative Stress and Na(+) and Ca(2+) Overload in Motor Neuron-like NSC-34 Cells. ( 27126806 )
2016
36
Selected gene profiles of stressed NSC-34 cells and rat spinal cord following peripheral nerve reconstruction and minocycline treatment. ( 27168790 )
2016
37
NSC-34 Motor Neuron-Like Cells Are Unsuitable as Experimental Model for Glutamate-Mediated Excitotoxicity. ( 27242431 )
2016
38
(-)-Rhazinilam and the diphenylpyridazinone NSC 613241: Two compounds inducing the formation of morphologically similar tubulin spirals but binding apparently to two distinct sites on tubulin. ( 27311615 )
2016
39
Comparative Metabolism of Batracylin (NSC 320846) and N-acetylbatracylin (NSC 611001) Using Human, Dog, and Rat Preparations In Vitro. ( 27441096 )
2016
40
Robust phenotyping strategies for evaluation of stem non-structural carbohydrates (NSC) in rice. ( 27707775 )
2016
41
Differential regulation of NSC phenotype and genotype by chronically activated microglia within cocultures. ( 27722366 )
2016
42
Electrophysiological characterization of Nsc-34 cell line using Microelectrode Array. ( 27772743 )
2016
43
Stimulation of Suicidal Erythrocyte Death by the CDC25 Inhibitor NSC-95397. ( 27889774 )
2016
44
Counting Down to NSC 2016. ( 30284790 )
2016
45
Role of VEGF and VEGFR2 Receptor in Reversal of ALS-CSF Induced Degeneration of NSC-34 Motor Neuron Cell Line. ( 24880751 )
2015
46
Expression of sulfotransferase SULT1A1 in cancer cells predicts susceptibility to the novel anticancer agent NSC-743380. ( 25514600 )
2015
47
Transcription activator-like effector nuclease (TALEN)-mediated CLYBL targeting enables enhanced transgene expression and one-step generation of dual reporter human induced pluripotent stem cell (iPSC) and neural stem cell (NSC) lines. ( 25587899 )
2015
48
A phase I-II evaluation of veliparib (NSC #737664), topotecan, and filgrastim or pegfilgrastim in the treatment of persistent or recurrent carcinoma of the uterine cervix: an NRG Oncology/Gynecologic Oncology Group study. ( 25594147 )
2015
49
Transplantation of NSC-derived cholinergic neuron-like cells improves cognitive function in APP/PS1 transgenic mice. ( 25681520 )
2015
50
A Pilot Trial of Cisplatin/Etoposide/Radiotherapy Followed by Consolidation Docetaxel and the Combination of Bevacizumab (NSC-704865) in Patients With Inoperable Locally Advanced Stage III Non-Small-Cell Lung Cancer: SWOG S0533. ( 25703100 )
2015

Variations for Sclerosing Cholangitis, Neonatal

UniProtKB/Swiss-Prot genetic disease variations for Sclerosing Cholangitis, Neonatal:

75
# Symbol AA change Variation ID SNP ID
1 DCDC2 p.Lys17Asn VAR_077245

ClinVar genetic disease variations for Sclerosing Cholangitis, Neonatal:

6 (show all 29)
# Gene Variation Type Significance SNP ID Assembly Location
1 DCDC2 NM_016356.4(DCDC2): c.649A> T (p.Lys217Ter) single nucleotide variant Pathogenic rs730880299 GRCh37 Chromosome 6, 24291215: 24291215
2 DCDC2 NM_016356.4(DCDC2): c.649A> T (p.Lys217Ter) single nucleotide variant Pathogenic rs730880299 GRCh38 Chromosome 6, 24290987: 24290987
3 DCDC2 NM_016356.4(DCDC2): c.123_124delGT (p.Ser42Glnfs) deletion Pathogenic rs757704417 GRCh37 Chromosome 6, 24357855: 24357856
4 DCDC2 NM_016356.4(DCDC2): c.123_124delGT (p.Ser42Glnfs) deletion Pathogenic rs757704417 GRCh38 Chromosome 6, 24357627: 24357628
5 DCDC2 NM_016356.4(DCDC2): c.51G> C (p.Lys17Asn) single nucleotide variant Pathogenic rs1042640142 GRCh37 Chromosome 6, 24357928: 24357928
6 DCDC2 NM_016356.4(DCDC2): c.51G> C (p.Lys17Asn) single nucleotide variant Pathogenic rs1042640142 GRCh38 Chromosome 6, 24357700: 24357700
7 DCDC2 NM_016356.4: c.426_557del deletion Pathogenic
8 DCDC2 NM_016356.4(DCDC2): c.890T> A (p.Leu297Ter) single nucleotide variant Pathogenic rs1050411259 GRCh38 Chromosome 6, 24278081: 24278081
9 DCDC2 NM_016356.4(DCDC2): c.890T> A (p.Leu297Ter) single nucleotide variant Pathogenic rs1050411259 GRCh37 Chromosome 6, 24278309: 24278309
10 DCDC2 NM_016356.4(DCDC2): c.529dup (p.Ile177Asnfs) duplication Pathogenic rs904944428 GRCh37 Chromosome 6, 24301971: 24301971
11 DCDC2 NM_016356.4(DCDC2): c.529dup (p.Ile177Asnfs) duplication Pathogenic rs904944428 GRCh38 Chromosome 6, 24301743: 24301743
12 DCDC2 NM_016356.4(DCDC2): c.855A> G (p.Ser285=) single nucleotide variant Benign/Likely benign rs141519329 GRCh38 Chromosome 6, 24278116: 24278116
13 DCDC2 NM_016356.4(DCDC2): c.855A> G (p.Ser285=) single nucleotide variant Benign/Likely benign rs141519329 GRCh37 Chromosome 6, 24278344: 24278344
14 DCDC2 NM_016356.4(DCDC2): c.355C> T (p.Pro119Ser) single nucleotide variant Uncertain significance rs1056029060 GRCh37 Chromosome 6, 24302266: 24302266
15 DCDC2 NM_016356.4(DCDC2): c.355C> T (p.Pro119Ser) single nucleotide variant Uncertain significance rs1056029060 GRCh38 Chromosome 6, 24302038: 24302038
16 DCDC2 NM_016356.4(DCDC2): c.1208G> A (p.Arg403His) single nucleotide variant Conflicting interpretations of pathogenicity rs139858268 GRCh38 Chromosome 6, 24178448: 24178448
17 DCDC2 NM_016356.4(DCDC2): c.1208G> A (p.Arg403His) single nucleotide variant Conflicting interpretations of pathogenicity rs139858268 GRCh37 Chromosome 6, 24178676: 24178676
18 DCDC2 NM_016356.4(DCDC2): c.294-13_294-10delGTTT deletion Benign rs374485384 GRCh38 Chromosome 6, 24353633: 24353636
19 DCDC2 NM_016356.4(DCDC2): c.294-13_294-10delGTTT deletion Benign rs374485384 GRCh37 Chromosome 6, 24353861: 24353864
20 DCDC2 NM_016356.4(DCDC2): c.1044C> T (p.Asp348=) single nucleotide variant Benign/Likely benign rs143313706 GRCh38 Chromosome 6, 24178612: 24178612
21 DCDC2 NM_016356.4(DCDC2): c.1044C> T (p.Asp348=) single nucleotide variant Benign/Likely benign rs143313706 GRCh37 Chromosome 6, 24178840: 24178840
22 DCDC2 NM_016356.4(DCDC2): c.454C> G (p.Pro152Ala) single nucleotide variant Benign rs33914824 GRCh38 Chromosome 6, 24301818: 24301818
23 DCDC2 NM_016356.4(DCDC2): c.454C> G (p.Pro152Ala) single nucleotide variant Benign rs33914824 GRCh37 Chromosome 6, 24302046: 24302046
24 DCDC2 NM_016356.4(DCDC2): c.183C> T (p.Ala61=) single nucleotide variant Benign rs33943110 GRCh37 Chromosome 6, 24357796: 24357796
25 DCDC2 NM_016356.4(DCDC2): c.183C> T (p.Ala61=) single nucleotide variant Benign rs33943110 GRCh38 Chromosome 6, 24357568: 24357568
26 DCDC2 NM_016356.4(DCDC2): c.929G> C (p.Gly310Ala) single nucleotide variant Uncertain significance rs746447569 GRCh37 Chromosome 6, 24205324: 24205324
27 DCDC2 NM_016356.4(DCDC2): c.929G> C (p.Gly310Ala) single nucleotide variant Uncertain significance rs746447569 GRCh38 Chromosome 6, 24205096: 24205096
28 DCDC2 NM_016356.4(DCDC2): c.68G> T (p.Arg23Leu) single nucleotide variant Uncertain significance rs745333409 GRCh37 Chromosome 6, 24357911: 24357911
29 DCDC2 NM_016356.4(DCDC2): c.68G> T (p.Arg23Leu) single nucleotide variant Uncertain significance rs745333409 GRCh38 Chromosome 6, 24357683: 24357683

Expression for Sclerosing Cholangitis, Neonatal

Search GEO for disease gene expression data for Sclerosing Cholangitis, Neonatal.

Pathways for Sclerosing Cholangitis, Neonatal

GO Terms for Sclerosing Cholangitis, Neonatal

Sources for Sclerosing Cholangitis, Neonatal

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