DIAR9
MCID: DRR018
MIFTS: 15

Diarrhea 9 (DIAR9)

Categories: Gastrointestinal diseases, Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Diarrhea 9

MalaCards integrated aliases for Diarrhea 9:

Name: Diarrhea 9 58 76 6
Diar9 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
neonatal onset of symptoms


Classifications:



External Ids:

OMIM 58 618168
MeSH 45 D003968
MedGen 43 CN257757

Summaries for Diarrhea 9

OMIM : 58 Diarrhea-9 is a form of neonatal-onset chronic diarrhea characterized by an osmotic diarrhea that is not substrate specific, abnormal crypt and villus architecture, and significant fat malabsorption (O'Connell et al., 2018). For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700). (618168)

MalaCards based summary : Diarrhea 9, is also known as diar9. An important gene associated with Diarrhea 9 is WNT2B (Wnt Family Member 2B).

UniProtKB/Swiss-Prot : 76 Diarrhea 9: An autosomal recessive form of chronic diarrhea characterized by neonatal-onset of osmotic diarrhea that is not substrate specific, abnormal crypt and villus architecture, and significant fat malabsorption evidenced by high levels of fecal fat.

Related Diseases for Diarrhea 9

Symptoms & Phenotypes for Diarrhea 9

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Laboratory Abnormalities:
elevated fecal fat
elevated fecal lactoferrin

Abdomen Gastrointestinal:
diarrhea, chronic severe
inflammatory changes in intestinal tract, chronic
oxyntic atrophy in the stomach
partial villous atrophy in the duodenum
reduced number of crypts
more

Clinical features from OMIM:

618168

Drugs & Therapeutics for Diarrhea 9

Search Clinical Trials , NIH Clinical Center for Diarrhea 9

Genetic Tests for Diarrhea 9

Anatomical Context for Diarrhea 9

Publications for Diarrhea 9

Articles related to Diarrhea 9:

# Title Authors Year
1
Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations. ( 29909964 )
2018

Variations for Diarrhea 9

ClinVar genetic disease variations for Diarrhea 9:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WNT2B NM_024494.2(WNT2B): c.313C> T (p.Arg105Ter) single nucleotide variant Uncertain significance rs879255420 GRCh37 Chromosome 1, 113057626: 113057626
2 WNT2B NM_024494.2(WNT2B): c.313C> T (p.Arg105Ter) single nucleotide variant Uncertain significance rs879255420 GRCh38 Chromosome 1, 112515004: 112515004
3 WNT2B NM_024494.2(WNT2B): c.205C> T (p.Arg69Ter) single nucleotide variant Pathogenic rs370244148 GRCh37 Chromosome 1, 113057518: 113057518
4 WNT2B NM_024494.2(WNT2B): c.205C> T (p.Arg69Ter) single nucleotide variant Pathogenic rs370244148 GRCh38 Chromosome 1, 112514896: 112514896

Expression for Diarrhea 9

Search GEO for disease gene expression data for Diarrhea 9.

Pathways for Diarrhea 9

GO Terms for Diarrhea 9

Sources for Diarrhea 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
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70 SNOMED-CT via HPO
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72 TGDB
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