Diarrhea 6 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Gastrointestinal diseases Oral diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Certain conditions originating in the perinatal period

Digestive system disorders of fetus and newborn

Other perinatal digestive system disorders

Noninfective neonatal diarrhoea

Orphanet: ⁶⁰

Rare gastroenterological diseases

External Ids:

OMIM ⁵⁸ 614616

MeSH ⁴⁵ D003967

ICD10 via Orphanet ³⁵ P78.3

Orphanet ⁶⁰ ORPHA314373

MedGen ⁴³ C3553270 CN123925

SNOMED-CT via HPO ⁷⁰ 190634004 21522001 263681008 more

UMLS ⁷⁴ C3553270

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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.

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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

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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

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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

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Genetic Tests for Diarrhea 6

Genetic tests related to Diarrhea 6:

#	Genetic test	Affiliating Genes
1	Diarrhea 6 ³⁰	GUCY2C

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Anatomical Context for Diarrhea 6

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Publications for Diarrhea 6

Articles related to Diarrhea 6:

#	Title	Authors	Year
1	Familial diarrhea syndrome caused by an activating GUCY2C mutation. ( 22436048 )	Fiskerstrand T...Knappskog PM	2012
2	Symposium on diarrhea. 6. Infectious diarrhea. ( 849557 )	Edwards LA	1977

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Genes for Diarrhea 6

Genes related to Diarrhea 6 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GUCY2C	Guanylate Cyclase 2C	Protein Coding	1676.5	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)
2	C12orf60	Chromosome 12 Open Reading Frame 60	Protein Coding	7.14	GeneCards inferred via : Variants (show sections)

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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

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Expression for Diarrhea 6

Search GEO for disease gene expression data for Diarrhea 6.

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Pathways for Diarrhea 6

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GO Terms for Diarrhea 6

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Sources for Diarrhea 6

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

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¹⁶ DrugBank

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¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

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⁶³ PubMed

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⁶⁶ R&D Systems

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⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Diarrhea 6 (DIAR6)

Aliases & Classifications for Diarrhea 6

MalaCards integrated aliases for Diarrhea 6:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Diarrhea 6

Related Diseases for Diarrhea 6

Diseases in the Diarrhea family:

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

Symptoms & Phenotypes for Diarrhea 6

Human phenotypes related to Diarrhea 6:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Diarrhea 6

Interventional clinical trials:

Genetic Tests for Diarrhea 6

Genetic tests related to Diarrhea 6:

Anatomical Context for Diarrhea 6

Publications for Diarrhea 6

Articles related to Diarrhea 6:

Genes for Diarrhea 6

Genes related to Diarrhea 6 (1 elite genes):

Variations for Diarrhea 6

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

ClinVar genetic disease variations for Diarrhea 6:

Expression for Diarrhea 6

Pathways for Diarrhea 6

GO Terms for Diarrhea 6

Sources for Diarrhea 6