DIAR6
MCID: DRR009
MIFTS: 23

Diarrhea 6 (DIAR6)

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

Aliases & Classifications for Diarrhea 6

MalaCards integrated aliases for Diarrhea 6:

Name: Diarrhea 6 58 76 30 13 6 74
Diar6 58 76
Chronic Infantile Diarrhea Due to Guanylate Cyclase 2c Overactivity 60
Diarrhea, Type 6 41

Characteristics:

Orphanet epidemiological data:

60
chronic infantile diarrhea due to guanylate cyclase 2c overactivity
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
diarrhea 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 614616
MeSH 45 D003967
ICD10 via Orphanet 35 P78.3
Orphanet 60 ORPHA314373
UMLS 74 C3553270

Summaries for Diarrhea 6

OMIM : 58 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 genetic heterogeneity of 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 abdominal pain and vitamin b12 deficiency

UniProtKB/Swiss-Prot : 76 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 9
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 11.7
2 dysentery 9.8
3 diarrhea 9.8
4 meconium ileus 9.5 C12orf60 GUCY2C

Symptoms & Phenotypes for Diarrhea 6

Human phenotypes related to Diarrhea 6:

33
# Description HPO Frequency HPO Source Accession
1 abdominal pain 33 occasional (7.5%) HP:0002027
2 vitamin b12 deficiency 33 occasional (7.5%) HP:0100502
3 diarrhea 33 HP:0002014

Symptoms via clinical synopsis from OMIM:

58
Abdomen Gastrointestinal:
abdominal pain (in some patients)
diarrhea, chronic, early-onset mild
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)

Laboratory Abnormalities:
vitamin b12 deficiency (in some patients)

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

Genitourinary Ureters:
urolithiasis (in some patients)

Clinical features from OMIM:

614616

Drugs & Therapeutics for Diarrhea 6

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of TK2 Deficiency With Thymidine and Deoxycytidine Enrolling by invitation NCT03639701 Phase 1, Phase 2 Thymidine

Search NIH Clinical Center for Diarrhea 6

Genetic Tests for Diarrhea 6

Genetic tests related to Diarrhea 6:

# Genetic test Affiliating Genes
1 Diarrhea 6 30 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:

76
# 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 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
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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