DIAR8
MCID: DRR013
MIFTS: 27

Diarrhea 8, Secretory Sodium, Congenital (DIAR8)

Categories: Gastrointestinal diseases, Genetic diseases

Aliases & Classifications for Diarrhea 8, Secretory Sodium, Congenital

MalaCards integrated aliases for Diarrhea 8, Secretory Sodium, Congenital:

Name: Diarrhea 8, Secretory Sodium, Congenital 56 73 29 6
Diar8 56 12 73
Congenital Secretory Diarrhea, Sodium Type 71
Congenital Secretory Sodium Diarrhea 8 12
Diarrhea, Congenital Sodium; Csd 56
Diarrhea, Congenital Sodium 56
Csd 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
secretory diarrhea begins prenatally
inflammatory bowel disease may develop in childhood or adolescence


HPO:

31
diarrhea 8, secretory sodium, congenital:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060777
OMIM 56 616868
OMIM Phenotypic Series 56 PS214700
MeSH 43 D003968
ICD10 32 P78.3
UMLS 71 C0267663

Summaries for Diarrhea 8, Secretory Sodium, Congenital

UniProtKB/Swiss-Prot : 73 Diarrhea 8, secretory sodium, congenital: A disease characterized by watery secretory diarrhea with prenatal onset, prominent abdominal distension after birth due to dilated fluid-filled loops of intestine, elevated fecal sodium concentrations and low urinary sodium concentrations.

MalaCards based summary : Diarrhea 8, Secretory Sodium, Congenital, also known as diar8, is related to cat-scratch disease and neuroretinitis, and has symptoms including diarrhea and watery diarrhea. An important gene associated with Diarrhea 8, Secretory Sodium, Congenital is SLC9A3 (Solute Carrier Family 9 Member A3). Affiliated tissues include lymph node, lung and skin, and related phenotypes are inflammation of the large intestine and polyhydramnios

Disease Ontology : 12 A secretory diarrhea that has material basis in homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15.

More information from OMIM: 616868 PS214700

Related Diseases for Diarrhea 8, Secretory Sodium, Congenital

Diseases related to Diarrhea 8, Secretory Sodium, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 cat-scratch disease 12.1
2 neuroretinitis 11.6
3 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies 11.5
4 diarrhea 5, with tufting enteropathy, congenital 11.3
5 migraine with or without aura 1 10.6
6 migraine with aura 10.2
7 bartonellosis 10.2
8 lymphadenitis 10.2
9 depression 10.2
10 headache 10.2
11 papillomatosis, confluent and reticulated 10.0
12 amnestic disorder 10.0
13 migraine without aura 10.0
14 conduct disorder 10.0
15 uveitis 10.0
16 optic nerve disease 10.0
17 skin disease 10.0
18 systemic scleroderma 10.0
19 cervical adenitis 10.0
20 conjunctivitis 10.0
21 lung disease 10.0
22 neuropathy 10.0
23 scotoma 10.0
24 encephalitis 10.0
25 lymph node disease 10.0
26 familial episodic pain syndrome 10.0
27 argyria 10.0
28 secretory diarrhea 9.9
29 diarrhea 9.9

Graphical network of the top 20 diseases related to Diarrhea 8, Secretory Sodium, Congenital:



Diseases related to Diarrhea 8, Secretory Sodium, Congenital

Symptoms & Phenotypes for Diarrhea 8, Secretory Sodium, Congenital

Human phenotypes related to Diarrhea 8, Secretory Sodium, Congenital:

31
# Description HPO Frequency HPO Source Accession
1 inflammation of the large intestine 31 occasional (7.5%) HP:0002037
2 polyhydramnios 31 very rare (1%) HP:0001561
3 abdominal distention 31 HP:0003270
4 secretory diarrhea 31 HP:0005208
5 elevated fecal sodium 31 HP:0032484

Symptoms via clinical synopsis from OMIM:

56
Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Abdomen External Features:
abdominal distension at birth, prominent

Abdomen Gastrointestinal:
watery diarrhea
dilated fluid-filled loops of intestine at birth
elevated fecal sodium concentrations
inflammatory bowel disease (in some patients)

Laboratory Abnormalities:
elevated fecal sodium concentrations
low urinary sodium concentrations

Clinical features from OMIM:

616868

UMLS symptoms related to Diarrhea 8, Secretory Sodium, Congenital:


diarrhea, watery diarrhea

Drugs & Therapeutics for Diarrhea 8, Secretory Sodium, Congenital

Search Clinical Trials , NIH Clinical Center for Diarrhea 8, Secretory Sodium, Congenital

Genetic Tests for Diarrhea 8, Secretory Sodium, Congenital

Genetic tests related to Diarrhea 8, Secretory Sodium, Congenital:

# Genetic test Affiliating Genes
1 Diarrhea 8, Secretory Sodium, Congenital 29 SLC9A3

Anatomical Context for Diarrhea 8, Secretory Sodium, Congenital

MalaCards organs/tissues related to Diarrhea 8, Secretory Sodium, Congenital:

40
Lymph Node, Lung, Skin

Publications for Diarrhea 8, Secretory Sodium, Congenital

Articles related to Diarrhea 8, Secretory Sodium, Congenital:

# Title Authors PMID Year
1
Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea. 56 6
26358773 2015
2
Congenital Na+ diarrhea: a new type of secretory diarrhea. 56 6
3880821 1985

Variations for Diarrhea 8, Secretory Sodium, Congenital

ClinVar genetic disease variations for Diarrhea 8, Secretory Sodium, Congenital:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC9A3 NM_004174.4(SLC9A3):c.932C>T (p.Ala311Val)SNV Pathogenic 224595 rs869312806 5:484635-484635 5:484520-484520
2 SLC9A3 NM_004174.4(SLC9A3):c.341_343TCT[3] (p.Phe117del)short repeat Pathogenic 224596 rs776026092 5:492046-492048 5:491931-491933
3 SLC9A3 NM_004174.4(SLC9A3):c.1145G>A (p.Arg382Gln)SNV Pathogenic 224597 rs766076524 5:483385-483385 5:483270-483270
4 SLC9A3 NM_004174.4(SLC9A3):c.1745del (p.Ser582fs)deletion Pathogenic 224598 rs869320692 5:477462-477462 5:477347-477347
5 SLC9A3 NM_004174.4(SLC9A3):c.805G>A (p.Ala269Thr)SNV Pathogenic 224599 rs869312807 5:484762-484762 5:484647-484647
6 SLC9A3 NM_004174.4(SLC9A3):c.782dup (p.Thr262fs)duplication Pathogenic 224600 rs869320759 5:484784-484785 5:484669-484670
7 SLC9A3 NM_004174.4(SLC9A3):c.932+1G>ASNV Likely pathogenic 592108 rs144524702 5:484634-484634 5:484519-484519
8 SLC9A3 NM_004174.4(SLC9A3):c.1039G>A (p.Glu347Lys)SNV Likely pathogenic 625848 rs766583286 5:483491-483491 5:483376-483376
9 SLC9A3 NM_004174.4(SLC9A3):c.1814G>A (p.Arg605Gln)SNV Uncertain significance 547876 rs146547322 5:476734-476734 5:476619-476619

UniProtKB/Swiss-Prot genetic disease variations for Diarrhea 8, Secretory Sodium, Congenital:

73
# Symbol AA change Variation ID SNP ID
1 SLC9A3 p.Ala269Thr VAR_076420 rs869312807
2 SLC9A3 p.Ala311Val VAR_076421 rs869312806
3 SLC9A3 p.Arg382Gln VAR_076422 rs766076524

Expression for Diarrhea 8, Secretory Sodium, Congenital

Search GEO for disease gene expression data for Diarrhea 8, Secretory Sodium, Congenital.

Pathways for Diarrhea 8, Secretory Sodium, Congenital

GO Terms for Diarrhea 8, Secretory Sodium, Congenital

Sources for Diarrhea 8, Secretory Sodium, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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