DIAR4
MCID: DRR005
MIFTS: 37

Diarrhea 4, Malabsorptive, Congenital (DIAR4)

Categories: Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Diarrhea 4, Malabsorptive, Congenital

MalaCards integrated aliases for Diarrhea 4, Malabsorptive, Congenital:

Name: Diarrhea 4, Malabsorptive, Congenital 57 72 29 13 6 70
Enteric Anendocrinosis 57 12 58 72
Congenital Malabsorptive Diarrhea Due to Paucity of Enteroendocrine Cells 12 58
Congenital Malabsorptive Diarrhea 4 12 15
Diar4 57 72
Congenital Malabsorptive Diarrhoea Due to Paucity of Enteroendocrine Cells 12
Diarrhea, Type 4, Malabsorptive, Congenital 39
Congenital Malabsorptive Diarrhoea 4 12

Characteristics:

Orphanet epidemiological data:

58
enteric anendocrinosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

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

Miscellaneous:
onset in first weeks of life


HPO:

31
diarrhea 4, malabsorptive, congenital:
Inheritance autosomal recessive inheritance
Onset and clinical course neonatal onset


Classifications:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

Disease Ontology 12 DOID:0060779
OMIM® 57 610370
OMIM Phenotypic Series 57 PS214700
MeSH 44 D003968
ICD10 32 P78.3
ICD10 via Orphanet 33 P78.3
Orphanet 58 ORPHA83620
MedGen 41 C1835888
UMLS 70 C1835888

Summaries for Diarrhea 4, Malabsorptive, Congenital

Disease Ontology : 12 A congenital diarrhea characterized by chronic unremitting malabsorptive diarrhea and a profound dysgenesis of the enteroendocrine cells that has material basis in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3.

MalaCards based summary : Diarrhea 4, Malabsorptive, Congenital, also known as enteric anendocrinosis, is related to diarrhea and congenital diarrhea, and has symptoms including vomiting and diarrhea. An important gene associated with Diarrhea 4, Malabsorptive, Congenital is NEUROG3 (Neurogenin 3), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Regulation of beta-cell development. Affiliated tissues include liver, and related phenotypes are malabsorption and dehydration

UniProtKB/Swiss-Prot : 72 Diarrhea 4, malabsorptive, congenital: A disease characterized by severe, life-threatening watery diarrhea associated with generalized malabsorption and a paucity of enteroendocrine cells.

More information from OMIM: 610370 PS214700

Related Diseases for Diarrhea 4, Malabsorptive, Congenital

Graphical network of the top 20 diseases related to Diarrhea 4, Malabsorptive, Congenital:



Diseases related to Diarrhea 4, Malabsorptive, Congenital

Symptoms & Phenotypes for Diarrhea 4, Malabsorptive, Congenital

Human phenotypes related to Diarrhea 4, Malabsorptive, Congenital:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malabsorption 58 31 hallmark (90%) Very frequent (99-80%) HP:0002024
2 dehydration 58 31 hallmark (90%) Very frequent (99-80%) HP:0001944
3 vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002013
4 diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002014
5 hyperchloremic metabolic acidosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004918
6 type i diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0100651
7 portal hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0001409
8 cholestatic liver disease 58 31 frequent (33%) Frequent (79-30%) HP:0002611
9 abnormal cellular phenotype 58 31 frequent (33%) Frequent (79-30%) HP:0025354
10 failure to thrive 31 HP:0001508

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Abdomen Gastrointestinal:
vomiting
diarrhea, malabsorptive, severe
dysgenesis of enteroendocrine cells in the small and large bowel mucosa

Endocrine Features:
type 1 diabetes mellitus developed in some patients

Metabolic Features:
dehydration
hyperchloremic metabolic acidosis

Growth Weight:
low weight

Clinical features from OMIM®:

610370 (Updated 05-Apr-2021)

UMLS symptoms related to Diarrhea 4, Malabsorptive, Congenital:


vomiting; diarrhea

MGI Mouse Phenotypes related to Diarrhea 4, Malabsorptive, Congenital:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.8 AIRE MYO5B NEUROD1 NEUROG3 PCSK1 RFX6
2 growth/size/body region MP:0005378 9.76 AIRE CHGA MYO5B NEUROD1 NEUROG3 PCSK1
3 endocrine/exocrine gland MP:0005379 9.73 AIRE CHGA NEUROD1 NEUROG3 PCSK1 RFX6
4 homeostasis/metabolism MP:0005376 9.56 AIRE CHGA MYO5B NEUROD1 NEUROG3 PCSK1
5 mortality/aging MP:0010768 9.28 AIRE CHGA MYO5B NEUROD1 NEUROG3 PCSK1

Drugs & Therapeutics for Diarrhea 4, Malabsorptive, Congenital

Search Clinical Trials , NIH Clinical Center for Diarrhea 4, Malabsorptive, Congenital

Genetic Tests for Diarrhea 4, Malabsorptive, Congenital

Genetic tests related to Diarrhea 4, Malabsorptive, Congenital:

# Genetic test Affiliating Genes
1 Diarrhea 4, Malabsorptive, Congenital 29 NEUROG3

Anatomical Context for Diarrhea 4, Malabsorptive, Congenital

MalaCards organs/tissues related to Diarrhea 4, Malabsorptive, Congenital:

40
Liver

Publications for Diarrhea 4, Malabsorptive, Congenital

Articles related to Diarrhea 4, Malabsorptive, Congenital:

# Title Authors PMID Year
1
Mutant neurogenin-3 in congenital malabsorptive diarrhea. 57 6
16855267 2006
2
Enteric anendocrinosis attributable to a novel Neurogenin-3 variant. 61
32574610 2020
3
A New Case of Congenital Malabsorptive Diarrhea and Diabetes Secondary to Mutant Neurogenin-3. 61
28724572 2017
4
Extremely rare cause of congenital diarrhea: enteric anendocrinosis. 61
24134759 2013
5
Chromogranin-A staining reveals enteric anendocrinosis in unexplained congenital diarrhea. 61
24084374 2013
6
Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3. 61
21378176 2011
7
Directed differentiation of human pluripotent stem cells into intestinal tissue in vitro. 61
21151107 2011

Variations for Diarrhea 4, Malabsorptive, Congenital

ClinVar genetic disease variations for Diarrhea 4, Malabsorptive, Congenital:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NEUROG3 NM_020999.4(NEUROG3):c.162C>A (p.Cys54Ter) SNV Pathogenic 435975 rs1461650439 GRCh37: 10:71332638-71332638
GRCh38: 10:69572882-69572882
2 NEUROG3 NM_020999.4(NEUROG3):c.319C>A (p.Arg107Ser) SNV Pathogenic 5322 rs121917837 GRCh37: 10:71332481-71332481
GRCh38: 10:69572725-69572725
3 NEUROG3 NM_020999.4(NEUROG3):c.278G>T (p.Arg93Leu) SNV Pathogenic 5323 rs121917838 GRCh37: 10:71332522-71332522
GRCh38: 10:69572766-69572766
4 NEUROG3 NM_020999.4(NEUROG3):c.413C>G (p.Thr138Arg) SNV Uncertain significance 827677 GRCh37: 10:71332387-71332387
GRCh38: 10:69572631-69572631

UniProtKB/Swiss-Prot genetic disease variations for Diarrhea 4, Malabsorptive, Congenital:

72
# Symbol AA change Variation ID SNP ID
1 NEUROG3 p.Arg93Leu VAR_029003 rs121917838
2 NEUROG3 p.Arg107Ser VAR_029004 rs121917837

Expression for Diarrhea 4, Malabsorptive, Congenital

Search GEO for disease gene expression data for Diarrhea 4, Malabsorptive, Congenital.

Pathways for Diarrhea 4, Malabsorptive, Congenital

GO Terms for Diarrhea 4, Malabsorptive, Congenital

Biological processes related to Diarrhea 4, Malabsorptive, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vesicle-mediated transport GO:0016192 9.5 STX3 SAR1B MYO5B
2 positive regulation of transcription, DNA-templated GO:0045893 9.46 RFX6 NEUROG3 NEUROD1 AIRE
3 regulation of insulin secretion GO:0050796 9.4 RFX6 NEUROD1
4 neurogenesis GO:0022008 9.37 NEUROG3 NEUROD1
5 positive regulation of cell differentiation GO:0045597 9.26 NEUROG3 NEUROD1
6 hindbrain development GO:0030902 8.96 NEUROG3 NEUROD1
7 endocrine pancreas development GO:0031018 8.8 RFX6 NEUROG3 NEUROD1

Molecular functions related to Diarrhea 4, Malabsorptive, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 8.92 RFX6 NEUROG3 NEUROD1 AIRE

Sources for Diarrhea 4, Malabsorptive, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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