MCID: DRR005
MIFTS: 36

Diarrhea 4, Malabsorptive, Congenital

Categories: Genetic diseases, Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Diarrhea 4, Malabsorptive, Congenital

MalaCards integrated aliases for Diarrhea 4, Malabsorptive, Congenital:

Name: Diarrhea 4, Malabsorptive, Congenital 57 75 29 13 6 73
Enteric Anendocrinosis 57 12 59 75
Congenital Malabsorptive Diarrhea Due to Paucity of Enteroendocrine Cells 12 59
Congenital Malabsorptive Diarrhea 4 12 15
Diar4 57 75
Diarrhea, Type 4, Malabsorptive, Congenital 40

Characteristics:

Orphanet epidemiological data:

59
enteric anendocrinosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in first weeks of life


HPO:

32
diarrhea 4, malabsorptive, congenital:
Onset and clinical course neonatal onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 610370
Disease Ontology 12 DOID:0060779
ICD10 33 P78.3
Orphanet 59 ORPHA83620
ICD10 via Orphanet 34 P78.3
MedGen 42 C1835888
MeSH 44 D003968
UMLS 73 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 congenital diarrhea and diarrhea, and has symptoms including diarrhea and vomiting. An important gene associated with Diarrhea 4, Malabsorptive, Congenital is NEUROG3 (Neurogenin 3), and among its related pathways/superpathways are Regulation of beta-cell development and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include liver, and related phenotypes are dehydration and vomiting

UniProtKB/Swiss-Prot : 75 Diarrhea 4, malabsorptive, congenital: A disease characterized by severe, life-threatening watery diarrhea associated with generalized malabsorption and a paucity of enteroendocrine cells.

Description from OMIM: 610370

Related Diseases for Diarrhea 4, Malabsorptive, Congenital

Diseases related to Diarrhea 4, Malabsorptive, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital diarrhea 10.1
2 diarrhea 10.1
3 non-functioning pancreatic endocrine tumor 9.6 CHGA NEUROG3
4 maturity-onset diabetes of the young 9.1 NEUROD1 NEUROG3

Symptoms & Phenotypes for Diarrhea 4, Malabsorptive, Congenital

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Diarrhea 4, Malabsorptive, Congenital:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dehydration 59 32 hallmark (90%) Very frequent (99-80%) HP:0001944
2 vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002013
3 diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002014
4 malabsorption 59 32 hallmark (90%) Very frequent (99-80%) HP:0002024
5 hyperchloremic metabolic acidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004918
6 portal hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0001409
7 cholestatic liver disease 59 32 frequent (33%) Frequent (79-30%) HP:0002611
8 abnormal cellular phenotype 59 32 frequent (33%) Frequent (79-30%) HP:0025354
9 type i diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0100651
10 failure to thrive 32 HP:0001508

UMLS symptoms related to Diarrhea 4, Malabsorptive, Congenital:


diarrhea, vomiting

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.35 CHGA FGF4 NEUROD1 NEUROG3 WNT3A
2 renal/urinary system MP:0005367 8.92 CHGA NEUROD1 NEUROG3 WNT3A

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:

41
Liver

Publications for Diarrhea 4, Malabsorptive, Congenital

Articles related to Diarrhea 4, Malabsorptive, Congenital:

# Title Authors Year
1
Chromogranin-A staining reveals enteric anendocrinosis in unexplained congenital diarrhea. ( 24084374 )
2013
2
Extremely rare cause of congenital diarrhea: enteric anendocrinosis. ( 24134759 )
2013
3
Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3. ( 21378176 )
2011

Variations for Diarrhea 4, Malabsorptive, Congenital

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

75
# Symbol AA change Variation ID SNP ID
1 NEUROG3 p.Arg93Leu VAR_029003 rs121917838
2 NEUROG3 p.Arg107Ser VAR_029004 rs121917837

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NEUROG3 NM_020999.3(NEUROG3): c.319C> A (p.Arg107Ser) single nucleotide variant Pathogenic rs121917837 GRCh37 Chromosome 10, 71332481: 71332481
2 NEUROG3 NM_020999.3(NEUROG3): c.319C> A (p.Arg107Ser) single nucleotide variant Pathogenic rs121917837 GRCh38 Chromosome 10, 69572725: 69572725
3 NEUROG3 NM_020999.3(NEUROG3): c.278G> T (p.Arg93Leu) single nucleotide variant Pathogenic rs121917838 GRCh37 Chromosome 10, 71332522: 71332522
4 NEUROG3 NM_020999.3(NEUROG3): c.278G> T (p.Arg93Leu) single nucleotide variant Pathogenic rs121917838 GRCh38 Chromosome 10, 69572766: 69572766
5 NEUROG3 NM_020999.3(NEUROG3): c.162C> A (p.Cys54Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 71332638: 71332638
6 NEUROG3 NM_020999.3(NEUROG3): c.162C> A (p.Cys54Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 69572882: 69572882

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:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.73 FGF4 NEUROD1 NEUROG3 WNT3A
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.62 FGF4 NEUROD1 NEUROG3 WNT3A
3 positive regulation of protein phosphorylation GO:0001934 9.51 FGF4 WNT3A
4 anterior/posterior pattern specification GO:0009952 9.49 NEUROD1 WNT3A
5 positive regulation of neuron differentiation GO:0045666 9.48 NEUROD1 NEUROG3
6 cell fate commitment GO:0045165 9.46 NEUROD1 WNT3A
7 negative regulation of neuron death GO:1901215 9.4 CHGA WNT3A
8 positive regulation of cell differentiation GO:0045597 9.37 NEUROD1 NEUROG3
9 endocrine pancreas development GO:0031018 9.26 NEUROD1 NEUROG3
10 hindbrain development GO:0030902 9.16 NEUROD1 NEUROG3
11 positive regulation of DNA binding transcription factor activity GO:0051091 9.13 NEUROD1 NEUROG3 WNT3A
12 neurogenesis GO:0022008 8.8 NEUROD1 NEUROG3 WNT3A

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

# Name GO ID Score Top Affiliating Genes
1 double-stranded DNA binding GO:0003690 8.96 NEUROD1 NEUROG3
2 transcription coactivator activity GO:0003713 8.8 NEUROD1 NEUROG3 WNT3A

Sources for Diarrhea 4, Malabsorptive, Congenital

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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