MCID: DRR009
MIFTS: 23

Diarrhea 6

Categories: Genetic diseases, Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Diarrhea 6

MalaCards integrated aliases for Diarrhea 6:

Name: Diarrhea 6 57 75 29 13 6 73
Diar6 57 75
Chronic Diarrhea Due to Guanylate Cyclase 2c Overactivity 59
Diarrhea, Type 6 40

Characteristics:

Orphanet epidemiological data:

59
chronic diarrhea due to guanylate cyclase 2c overactivity
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
diarrhea 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614616
Orphanet 59 ORPHA314373
ICD10 via Orphanet 34 P78.3
MeSH 44 D003967
UMLS 73 C3553270

Summaries for Diarrhea 6

OMIM : 57 Diarrhea-6 is a relatively mild, early-onset chronic diarrhea that may be associated with increased susceptibility to inflammatory bowel disease, small bowel obstruction, and esophagitis (Fiskerstrand et al., 2012). For a discussion of phenotypic and genetic heterogeneity of congenital diarrhea, see DIAR1 (214700). (614616)

MalaCards based summary : Diarrhea 6, also known as diar6, is related to chronic diarrhea due to guanylate cyclase 2c overactivity and dysentery. An important gene associated with Diarrhea 6 is GUCY2C (Guanylate Cyclase 2C). Related phenotypes are diarrhea and abdominal pain

UniProtKB/Swiss-Prot : 75 Diarrhea 6: A relatively mild, early-onset chronic diarrhea that may be associated with increased susceptibility to inflammatory bowel disease, small bowel obstruction, and esophagitis.

Related Diseases for Diarrhea 6

Diseases in the Diarrhea family:

Diarrhea 6 Diarrhea 7
Chronic Diarrhea Due to Guanylate Cyclase 2c Overactivity Inflammatory Diarrhea
Acute Diarrhea Congenital Diarrhea

Diseases related to Diarrhea 6 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chronic diarrhea due to guanylate cyclase 2c overactivity 11.5
2 dysentery 9.7
3 diarrhea 9.7
4 duodenal atresia 9.2 C12orf60 GUCY2C
5 meconium ileus 9.0 C12orf60 GUCY2C

Graphical network of the top 20 diseases related to Diarrhea 6:



Diseases related to Diarrhea 6

Symptoms & Phenotypes for Diarrhea 6

Symptoms via clinical synopsis from OMIM:

57
Abdomen External Features:
meteorism (gaseous distention of the stomach or intestine)

Genitourinary Ureters:
urolithiasis (in some patients)

Laboratory Abnormalities:
vitamin b12 deficiency (in some patients)

Abdomen Gastrointestinal:
diarrhea, chronic, early-onset mild
abdominal pain (in some patients)
dehydration in infancy (in some patients)
metabolic acidosis in infancy (in some patients)
electrolyte disturbances in infancy (in some patients)
more
Metabolic Features:
metabolic acidosis in infancy (in some patients)
electrolyte disturbances in infancy (in some patients)


Clinical features from OMIM:

614616

Human phenotypes related to Diarrhea 6:

32
# Description HPO Frequency HPO Source Accession
1 diarrhea 32 HP:0002014
2 abdominal pain 32 occasional (7.5%) HP:0002027
3 vitamin b12 deficiency 32 occasional (7.5%) HP:0100502

Drugs & Therapeutics for Diarrhea 6

Search Clinical Trials , NIH Clinical Center for Diarrhea 6

Genetic Tests for Diarrhea 6

Genetic tests related to Diarrhea 6:

# Genetic test Affiliating Genes
1 Diarrhea 6 29 GUCY2C

Anatomical Context for Diarrhea 6

Publications for Diarrhea 6

Articles related to Diarrhea 6:

# Title Authors Year
1
Symposium on diarrhea. 6. Infectious diarrhea. ( 849557 )
1977

Variations for Diarrhea 6

UniProtKB/Swiss-Prot genetic disease variations for Diarrhea 6:

75
# Symbol AA change Variation ID SNP ID
1 GUCY2C p.Ser840Ile VAR_067724 rs587776871

ClinVar genetic disease variations for Diarrhea 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GUCY2C NM_004963.3(GUCY2C): c.2519G> T (p.Ser840Ile) single nucleotide variant Pathogenic rs587776871 GRCh37 Chromosome 12, 14775021: 14775021
2 GUCY2C NM_004963.3(GUCY2C): c.2519G> T (p.Ser840Ile) single nucleotide variant Pathogenic rs587776871 GRCh38 Chromosome 12, 14622087: 14622087

Expression for Diarrhea 6

Search GEO for disease gene expression data for Diarrhea 6.

Pathways for Diarrhea 6

GO Terms for Diarrhea 6

Sources for Diarrhea 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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