DIAR3
MCID: DRR017
MIFTS: 31

Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies (DIAR3)

Categories: Gastrointestinal diseases, Genetic diseases

Aliases & Classifications for Diarrhea 3, Secretory Sodium, Congenital, with or Without Other...

MalaCards integrated aliases for Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies:

Name: Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies 57 75
Diarrhea 3, Secretory Sodium, Congenital, Syndromic 57 75 29 13 6
Csd 57 75 3
Diar3 57 75
Congenital Secretory Sodium Diarrhea 3 with or Without Other Congenital Anomalies 12
Diarrhea, Type 3, Secretory Sodium, Congenital, Syndromic 40
Congenital Secretory Sodium Diarrhea 3 Syndromic 12
Congenital Secretory Diarrhea, Sodium Type 73
Congenital Secretory Sodium Diarrhea 3 12
Sodium Diarrhea, Congenital; Csd 57
Sodium Diarrhea, Congenital 57
Congenital Sodium Diarrhea 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Diarrhea 3, Secretory Sodium, Congenital, with or Without Other...

UniProtKB/Swiss-Prot : 75 Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies: A disease characterized by life-threatening secretory diarrhea, severe metabolic acidosis and hyponatremia. Hyponatremia is secondary to extraordinarily high fecal sodium loss, with low or normal excretion of urinary sodium, in the absence of infectious, autoimmune and endocrine causes.

MalaCards based summary : Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies, also known as diarrhea 3, secretory sodium, congenital, syndromic, is related to cat-scratch disease and neuroretinitis, and has symptoms including diarrhea and watery diarrhea. An important gene associated with Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies is SPINT2 (Serine Peptidase Inhibitor, Kunitz Type 2). Affiliated tissues include bone, olfactory bulb and skin, and related phenotypes are macrocephaly and hypertelorism

Disease Ontology : 12 A secretory diarrhea that has material basis in homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13.

CDC : 3 Bartonella bacteria cause several diseases in humans. The most common is cat scratch disease.

Description from OMIM: 270420

Related Diseases for Diarrhea 3, Secretory Sodium, Congenital, with or Without Other...

Diseases related to Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 cat-scratch disease 11.8
2 neuroretinitis 11.4
3 diarrhea 8, secretory sodium, congenital 11.2
4 diarrhea 5, with tufting enteropathy, congenital 11.1
5 diarrhea 10.3
6 migraine with or without aura 1 10.0
7 skin disease 10.0
8 migraine without aura 10.0
9 conduct disorder 10.0
10 lymphadenitis 10.0
11 optic nerve disease 10.0
12 cervical adenitis 10.0
13 neuropathy 10.0
14 depression 10.0
15 headache 10.0
16 coloboma of macula 9.9

Graphical network of the top 20 diseases related to Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies:



Diseases related to Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies

Symptoms & Phenotypes for Diarrhea 3, Secretory Sodium, Congenital, with or Without Other...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
corneal erosions
lacrimal duct imperforation (rare)
coloboma of optic nerve (rare)

Head And Neck Nose:
choanal atresia
olfactory bulb agenesis (rare)

Head And Neck Face:
fistula of philtrum (rare)

Abdomen External Features:
abdominal distention at birth

Genitourinary Ureters:
ureteral duplication (rare)

Skeletal Hands:
hexadactyly (rare)

Skin Nails Hair Hair:
pilar dysplasia (in some patients)

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Head And Neck Head:
macrocephaly (rare)

Head And Neck Ears:
deafness due to bilateral cochlear malformation (rare)
low-set ears (rare)

Abdomen Gastrointestinal:
congenital secretory sodium diarrhea
enterocyte tufting (in some patients)
imperforate anus (rare)
rectovaginal fistula (rare)
multiple intestinal atresia (rare)
more
Skeletal:
bone anomalies (rare)

Skin Nails Hair Skin:
cutaneous laxity (rare)


Clinical features from OMIM:

270420

Human phenotypes related to Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 occasional (7.5%) HP:0000256
2 hypertelorism 32 HP:0000316
3 low-set ears 32 occasional (7.5%) HP:0000369
4 abnormality of metabolism/homeostasis 32 HP:0001939
5 corneal erosion 32 HP:0200020
6 anal atresia 32 occasional (7.5%) HP:0002023
7 polyhydramnios 32 HP:0001561
8 choanal atresia 32 HP:0000453
9 intestinal malrotation 32 occasional (7.5%) HP:0002566
10 rectovaginal fistula 32 occasional (7.5%) HP:0000143
11 optic nerve coloboma 32 occasional (7.5%) HP:0000588
12 abdominal distention 32 HP:0003270
13 ureteral duplication 32 occasional (7.5%) HP:0000073
14 cutis laxa 32 occasional (7.5%) HP:0000973
15 secretory diarrhea 32 HP:0005208

UMLS symptoms related to Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies:


diarrhea, watery diarrhea

Drugs & Therapeutics for Diarrhea 3, Secretory Sodium, Congenital, with or Without Other...

Search Clinical Trials , NIH Clinical Center for Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies

Genetic Tests for Diarrhea 3, Secretory Sodium, Congenital, with or Without Other...

Genetic tests related to Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies:

# Genetic test Affiliating Genes
1 Diarrhea 3, Secretory Sodium, Congenital, Syndromic 29

Anatomical Context for Diarrhea 3, Secretory Sodium, Congenital, with or Without Other...

MalaCards organs/tissues related to Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies:

41
Bone, Olfactory Bulb, Skin

Publications for Diarrhea 3, Secretory Sodium, Congenital, with or Without Other...

Articles related to Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies:

# Title Authors Year
1
SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase. ( 30445423 )
2018
2
Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys). ( 29575628 )
2018
3
Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea. ( 26358773 )
2015
4
Functional analysis of a missense mutation in the serine protease inhibitor SPINT2 associated with congenital sodium diarrhea. ( 24722141 )
2014
5
Nucleotide sequence of the Na+/H+ exchanger-8 in patients with congenital sodium diarrhea. ( 21666503 )
2011
6
Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea. ( 20009592 )
2010
7
Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea. ( 19185281 )
2009
8
Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes. ( 11113072 )
2000
9
Treatment of an infant with congenital sodium diarrhea by oral rehydration. ( 8460545 )
1993

Variations for Diarrhea 3, Secretory Sodium, Congenital, with or Without Other...

UniProtKB/Swiss-Prot genetic disease variations for Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies:

75
# Symbol AA change Variation ID SNP ID
1 SPINT2 p.Tyr163Cys VAR_058718 rs121908403

ClinVar genetic disease variations for Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 SPINT2 NM_021102.3(SPINT2): c.593-1G> A single nucleotide variant Pathogenic rs606231154 GRCh38 Chromosome 19, 38291839: 38291839
2 SPINT2 NM_021102.3(SPINT2): c.593-1G> A single nucleotide variant Pathogenic rs606231154 GRCh37 Chromosome 19, 38782479: 38782479
3 SPINT2 NM_021102.3(SPINT2): c.488A> G (p.Tyr163Cys) single nucleotide variant Pathogenic rs121908403 GRCh37 Chromosome 19, 38780855: 38780855
4 SPINT2 NM_021102.3(SPINT2): c.488A> G (p.Tyr163Cys) single nucleotide variant Pathogenic rs121908403 GRCh38 Chromosome 19, 38290215: 38290215
5 SPINT2 NM_021102.3(SPINT2): c.337+2T> C single nucleotide variant Pathogenic rs606231155 GRCh38 Chromosome 19, 38287937: 38287937
6 SPINT2 NM_021102.3(SPINT2): c.337+2T> C single nucleotide variant Pathogenic rs606231155 GRCh37 Chromosome 19, 38778577: 38778577
7 SPINT2 NM_021102.3(SPINT2): c.553+2T> A single nucleotide variant Pathogenic rs112576957 GRCh38 Chromosome 19, 38290282: 38290282
8 SPINT2 NM_021102.3(SPINT2): c.553+2T> A single nucleotide variant Pathogenic rs112576957 GRCh37 Chromosome 19, 38780922: 38780922
9 SPINT2 NM_021102.3(SPINT2): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs121908404 GRCh37 Chromosome 19, 38755533: 38755533
10 SPINT2 NM_021102.3(SPINT2): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs121908404 GRCh38 Chromosome 19, 38264893: 38264893
11 SPINT2 NM_021102.3(SPINT2): c.502G> A (p.Gly168Ser) single nucleotide variant Pathogenic rs606231284 GRCh38 Chromosome 19, 38290229: 38290229
12 SPINT2 NM_021102.3(SPINT2): c.502G> A (p.Gly168Ser) single nucleotide variant Pathogenic rs606231284 GRCh37 Chromosome 19, 38780869: 38780869

Expression for Diarrhea 3, Secretory Sodium, Congenital, with or Without Other...

Search GEO for disease gene expression data for Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies.

Pathways for Diarrhea 3, Secretory Sodium, Congenital, with or Without Other...

GO Terms for Diarrhea 3, Secretory Sodium, Congenital, with or Without Other...

Sources for Diarrhea 3, Secretory Sodium, Congenital, with or Without Other...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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