NSC
MCID: SCL056
MIFTS: 31

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 72 29 6
Nsc 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
sclerosing cholangitis, neonatal:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset progressive


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) (Updated 05-Apr-2021)

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

UniProtKB/Swiss-Prot : 72 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 277)
# Related Disease Score Top Affiliating Genes
1 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 11.6
2 acute leukemia 10.6
3 neutropenia 10.5
4 amyotrophic lateral sclerosis 1 10.5
5 lateral sclerosis 10.5
6 neuroblastoma 10.4
7 mucositis 10.4
8 alopecia 10.4
9 myeloma, multiple 10.4
10 osteogenic sarcoma 10.3
11 granulocytopenia 10.3
12 stomatitis 10.3
13 glioma susceptibility 1 10.3
14 malignant astrocytoma 10.3
15 colon adenocarcinoma 10.3
16 thrombocytopenia 10.2
17 rhabdomyosarcoma 10.2
18 suppressor of tumorigenicity 3 10.2
19 leukemia 10.2
20 exanthem 10.2
21 small cell carcinoma 10.2
22 renal cell carcinoma, nonpapillary 10.2
23 leukemia, acute lymphoblastic 10.2
24 childhood acute lymphocytic leukemia 10.2
25 kidney cancer 10.2
26 glioblastoma 10.2
27 lymphopenia 10.2
28 soft tissue sarcoma 10.2
29 cystitis 10.2
30 motor neuron disease 10.2
31 ovarian epithelial cancer 10.2
32 leukemia, chronic lymphocytic 10.1
33 kaposi sarcoma 10.1
34 melanoma 10.1
35 peripheral nervous system disease 10.1
36 childhood leukemia 10.1
37 myeloid leukemia 10.1
38 hypoxia 10.1
39 leukemia, acute myeloid 10.1
40 hemorrhagic cystitis 10.1
41 adenocarcinoma 10.1
42 testicular cancer 10.1
43 anaplastic astrocytoma 10.1
44 benign ependymoma 10.1
45 cellular ependymoma 10.1
46 glioma 10.1
47 glial tumor 10.1
48 medulloblastoma 10.0
49 squamous cell carcinoma, head and neck 10.0
50 ataxia and polyneuropathy, adult-onset 10.0

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



Diseases related to Sclerosing Cholangitis, Neonatal

Symptoms & Phenotypes for Sclerosing Cholangitis, Neonatal

Human phenotypes related to Sclerosing Cholangitis, Neonatal:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 hepatomegaly 31 HP:0002240
3 portal hypertension 31 HP:0001409
4 elevated hepatic transaminase 31 HP:0002910
5 cirrhosis 31 HP:0001394
6 biliary cirrhosis 31 HP:0002613
7 jaundice 31 HP:0000952
8 pruritus 31 HP:0000989
9 sclerosing cholangitis 31 HP:0030991

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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:

40
Liver

Publications for Sclerosing Cholangitis, Neonatal

Articles related to Sclerosing Cholangitis, Neonatal:

# Title Authors PMID Year
1
Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis. 6 57
27469900 2016
2
DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis. 57 6
27319779 2016
3
DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling. 6
25557784 2015
4
Pediatric hepatobiliary disease. 61
17414847 2007

Variations for Sclerosing Cholangitis, Neonatal

ClinVar genetic disease variations for Sclerosing Cholangitis, Neonatal:

6 (show all 33)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DCDC2 NM_016356.5(DCDC2):c.890T>A (p.Leu297Ter) SNV Pathogenic 417768 rs1050411259 GRCh37: 6:24278309-24278309
GRCh38: 6:24278081-24278081
2 DCDC2 , KAAG1 NM_016356.5(DCDC2):c.51G>C (p.Lys17Asn) SNV Pathogenic 417766 rs1042640142 GRCh37: 6:24357928-24357928
GRCh38: 6:24357700-24357700
3 DCDC2 NM_016356.5(DCDC2):c.529dup (p.Ile177fs) Duplication Pathogenic 417769 rs904944428 GRCh37: 6:24301970-24301971
GRCh38: 6:24301742-24301743
4 DCDC2 NM_016356.5(DCDC2):c.649A>T (p.Lys217Ter) SNV Pathogenic 180687 rs730880299 GRCh37: 6:24291215-24291215
GRCh38: 6:24290987-24290987
5 DCDC2 NM_016356.4(DCDC2):c.426_557del (p.Phe142_Arg186delinsLeu) Deletion Pathogenic 417767 GRCh37: 6:24301943-24302074
GRCh38: 6:24301715-24301846
6 DCDC2 NM_016356.5(DCDC2):c.529dup (p.Ile177fs) Duplication Pathogenic 417769 rs904944428 GRCh37: 6:24301970-24301971
GRCh38: 6:24301742-24301743
7 DCDC2 , KAAG1 NM_016356.5(DCDC2):c.121_122GT[1] (p.Ser42fs) Microsatellite Pathogenic 180688 rs757704417 GRCh37: 6:24357855-24357856
GRCh38: 6:24357627-24357628
8 DCDC2 NM_016356.5(DCDC2):c.923-283_1023+141del Deletion Likely pathogenic 973531 GRCh37: 6:24205089-24205613
GRCh38: 6:24204861-24205385
9 DCDC2 NM_016356.5(DCDC2):c.549dup (p.Val184fs) Duplication Likely pathogenic 804454 rs1581640646 GRCh37: 6:24301950-24301951
GRCh38: 6:24301722-24301723
10 DCDC2 NM_016356.5(DCDC2):c.685A>G (p.Thr229Ala) SNV Uncertain significance 1035839 GRCh37: 6:24291179-24291179
GRCh38: 6:24290951-24290951
11 DCDC2 NM_016356.5(DCDC2):c.355C>T (p.Pro119Ser) SNV Uncertain significance 466325 rs1056029060 GRCh37: 6:24302266-24302266
GRCh38: 6:24302038-24302038
12 DCDC2 NM_016356.5(DCDC2):c.728C>G (p.Pro243Arg) SNV Uncertain significance 942438 GRCh37: 6:24289111-24289111
GRCh38: 6:24288883-24288883
13 DCDC2 NM_016356.5(DCDC2):c.1199G>A (p.Arg400His) SNV Uncertain significance 593218 rs771591530 GRCh37: 6:24178685-24178685
GRCh38: 6:24178457-24178457
14 DCDC2 NM_016356.5(DCDC2):c.785C>T (p.Thr262Ile) SNV Uncertain significance 654576 rs200534758 GRCh37: 6:24278414-24278414
GRCh38: 6:24278186-24278186
15 DCDC2 NM_016356.5(DCDC2):c.1154C>T (p.Pro385Leu) SNV Uncertain significance 660101 rs773020868 GRCh37: 6:24178730-24178730
GRCh38: 6:24178502-24178502
16 DCDC2 NM_016356.5(DCDC2):c.349G>A (p.Val117Ile) SNV Uncertain significance 838322 GRCh37: 6:24302272-24302272
GRCh38: 6:24302044-24302044
17 DCDC2 NM_016356.5(DCDC2):c.1076A>T (p.Asp359Val) SNV Uncertain significance 850513 GRCh37: 6:24178808-24178808
GRCh38: 6:24178580-24178580
18 DCDC2 NM_016356.5(DCDC2):c.970G>T (p.Ala324Ser) SNV Uncertain significance 862889 GRCh37: 6:24205283-24205283
GRCh38: 6:24205055-24205055
19 DCDC2 NM_016356.5(DCDC2):c.929G>C (p.Gly310Ala) SNV Uncertain significance 582505 rs746447569 GRCh37: 6:24205324-24205324
GRCh38: 6:24205096-24205096
20 DCDC2 NM_016356.5(DCDC2):c.750T>G (p.Ser250=) SNV Likely benign 767488 rs372157851 GRCh37: 6:24289089-24289089
GRCh38: 6:24288861-24288861
21 DCDC2 NM_016356.5(DCDC2):c.715T>G (p.Ser239Ala) SNV Likely benign 594128 rs144695853 GRCh37: 6:24289124-24289124
GRCh38: 6:24288896-24288896
22 DCDC2 NM_016356.5(DCDC2):c.349-9C>G SNV Likely benign 595384 rs765613994 GRCh37: 6:24302281-24302281
GRCh38: 6:24302053-24302053
23 DCDC2 NM_016356.5(DCDC2):c.543C>A (p.Ser181Arg) SNV Likely benign 594123 rs141060456 GRCh37: 6:24301957-24301957
GRCh38: 6:24301729-24301729
24 DCDC2 , KAAG1 NM_016356.5(DCDC2):c.222C>A (p.Ile74=) SNV Likely benign 502350 rs138670560 GRCh37: 6:24357757-24357757
GRCh38: 6:24357529-24357529
25 DCDC2 NM_016356.5(DCDC2):c.543C>T (p.Ser181=) SNV Likely benign 595441 rs141060456 GRCh37: 6:24301957-24301957
GRCh38: 6:24301729-24301729
26 DCDC2 , KAAG1 NM_016356.5(DCDC2):c.68G>T (p.Arg23Leu) SNV Likely benign 575006 rs745333409 GRCh37: 6:24357911-24357911
GRCh38: 6:24357683-24357683
27 DCDC2 NM_016356.5(DCDC2):c.1208G>A (p.Arg403His) SNV Likely benign 466322 rs139858268 GRCh37: 6:24178676-24178676
GRCh38: 6:24178448-24178448
28 DCDC2 NM_016356.5(DCDC2):c.1044C>T (p.Asp348=) SNV Benign 466321 rs143313706 GRCh37: 6:24178840-24178840
GRCh38: 6:24178612-24178612
29 DCDC2 , KAAG1 NM_016356.5(DCDC2):c.183C>T (p.Ala61=) SNV Benign 466323 rs33943110 GRCh37: 6:24357796-24357796
GRCh38: 6:24357568-24357568
30 DCDC2 NM_016356.5(DCDC2):c.454C>G (p.Pro152Ala) SNV Benign 466326 rs33914824 GRCh37: 6:24302046-24302046
GRCh38: 6:24301818-24301818
31 DCDC2 NM_016356.5(DCDC2):c.294-21GTTT[2] Microsatellite Benign 466324 rs374485384 GRCh37: 6:24353861-24353864
GRCh38: 6:24353633-24353636
32 DCDC2 NM_016356.5(DCDC2):c.478A>C (p.Arg160=) SNV Benign 514414 rs201204772 GRCh37: 6:24302022-24302022
GRCh38: 6:24301794-24301794
33 DCDC2 NM_016356.5(DCDC2):c.855A>G (p.Ser285=) SNV Benign 466327 rs141519329 GRCh37: 6:24278344-24278344
GRCh38: 6:24278116-24278116

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

72
# Symbol AA change Variation ID SNP ID
1 DCDC2 p.Lys17Asn VAR_077245 rs104264014

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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61 PubMed
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71 UMLS via Orphanet
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