MCID: SCL056
MIFTS: 24

Sclerosing Cholangitis, Neonatal

Categories: Genetic 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, and related phenotypes are jaundice and pruritus

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 all 47)
# Related Disease Score Top Affiliating Genes
1 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 11.8
2 leukemia 10.1
3 breast cancer 10.0
4 neuronitis 10.0
5 glioblastoma 9.9
6 hypoxia 9.9
7 colorectal cancer 9.8
8 lung cancer 9.8
9 adult t-cell leukemia 9.8
10 prostatitis 9.8
11 t-cell leukemia 9.8
12 alzheimer disease 9.7
13 leukemia, chronic lymphocytic 2 9.7
14 hepatocellular carcinoma 9.7
15 glioma susceptibility 1 9.7
16 leukemia, chronic lymphocytic 9.7
17 ovarian cancer 9.7
18 prostate cancer 9.7
19 small cell cancer of the lung 9.7
20 hydrocephalus, normal-pressure 9.7
21 squamous cell carcinoma, head and neck 9.7
22 cervical cancer 9.7
23 ovarian cancer 1 9.7
24 leukemia, chronic myeloid 9.7
25 myelodysplastic syndrome 9.7
26 hepatitis 9.7
27 hydrocephalus 9.7
28 small cell carcinoma 9.7
29 lymphoma 9.7
30 cutaneous t cell lymphoma 9.7
31 sarcoma 9.7
32 squamous cell carcinoma 9.7
33 cervicitis 9.7
34 adenocarcinoma 9.7
35 glioblastoma multiforme 9.7
36 astrocytoma 9.7
37 grade iii astrocytoma 9.7
38 gastroesophageal junction adenocarcinoma 9.7
39 pancreatitis 9.7
40 peritonitis 9.7
41 leukemia, b-cell, chronic 9.7
42 primary peritoneal carcinoma 9.7
43 endotheliitis 9.7
44 sclerosing cholangitis 9.5 CLDN1 DCDC2
45 nephronophthisis 19 9.3 DCDC2 KAAG1
46 deafness, autosomal recessive 66 9.2 DCDC2 KAAG1
47 cholangitis 9.2 CLDN1 DCDC2

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
AbdomenSpleen:
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 jaundice 32 HP:0000952
2 pruritus 32 HP:0000989
3 cirrhosis 32 HP:0001394
4 portal hypertension 32 HP:0001409
5 splenomegaly 32 HP:0001744
6 hepatomegaly 32 HP:0002240
7 biliary cirrhosis 32 HP:0002613
8 elevated hepatic transaminases 32 HP:0002910
9 sclerosing cholangitis 32 HP:0030991

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

Publications for Sclerosing Cholangitis, Neonatal

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 25)
# 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 GRCh37 Chromosome 6, 24278344: 24278344
13 DCDC2 NM_016356.4(DCDC2): c.855A> G (p.Ser285=) single nucleotide variant Benign/Likely benign rs141519329 GRCh38 Chromosome 6, 24278116: 24278116
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 GRCh37 Chromosome 6, 24178840: 24178840
21 DCDC2 NM_016356.4(DCDC2): c.1044C> T (p.Asp348=) single nucleotide variant Benign/Likely benign rs143313706 GRCh38 Chromosome 6, 24178612: 24178612
22 DCDC2 NM_016356.4(DCDC2): c.454C> G (p.Pro152Ala) single nucleotide variant Benign rs33914824 GRCh37 Chromosome 6, 24302046: 24302046
23 DCDC2 NM_016356.4(DCDC2): c.454C> G (p.Pro152Ala) single nucleotide variant Benign rs33914824 GRCh38 Chromosome 6, 24301818: 24301818
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

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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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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