DIAR5
MCID: DRR003
MIFTS: 46

Diarrhea 5, with Tufting Enteropathy, Congenital (DIAR5)

Categories: Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Diarrhea 5, with Tufting Enteropathy, Congenital

MalaCards integrated aliases for Diarrhea 5, with Tufting Enteropathy, Congenital:

Name: Diarrhea 5, with Tufting Enteropathy, Congenital 57 72 29 13 6 70
Congenital Tufting Enteropathy 12 58 72
Diar5 57 12 72
Cte 57 72 3
Congenital Diarrhea 5 with Tufting Enteropathy 12 15
Intestinal Epithelial Cell Dysplasia 57 72
Intestinal Epithelial Dysplasia 20 58
Tufting Enteropathy 12 20
Ied 20 58
Congenital Familial Intractable Diarrhoea with Epithelial or Epithelium Abnormalities 12
Congenital Familial Intractable Diarrhea with Epithelial or Epithelium Abnormalities 12
Congenital Familial Intractable Diarrhea with Enterocytes Assembly Abnormalities 20
Diarrhea, Type 5, with Tufting Enteropathy, Congenital 39
Congenital Diarrhoea 5 with Tufting Enteropathy 12
Non-Syndromic Congenital Tufting Enteropathy 58
Enteropathy, Congenital Tufting; Cte 57
Intestinal Intraepithelial Neoplasia 70
Enteropathy, Congenital Tufting 57
Congenital Enteropathy 20

Characteristics:

Orphanet epidemiological data:

58
congenital tufting enteropathy
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
incidence 1 in 50,000-100,000 in western europe
onset in the neonatal period (0-38 days)


HPO:

31
diarrhea 5, with tufting enteropathy, congenital:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

Disease Ontology 12 DOID:0060776
OMIM® 57 613217
OMIM Phenotypic Series 57 PS214700
MeSH 44 D003968
ICD10 32 P78.3
ICD10 via Orphanet 33 P78.3
Orphanet 58 ORPHA92050
MedGen 41 C2750737
UMLS 70 C1334229 C2750737

Summaries for Diarrhea 5, with Tufting Enteropathy, Congenital

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 92050 Definition Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure. Epidemiology No epidemiological data is available, however, the prevalence can be estimated at around 1/200,000 births in Europe. The prevalence is higher in areas with high degrees of consanguinity, but cases have been reported worldwide. Clinical description Most affected patients develop digestive intolerance with vomiting and watery diarrhea within the first few months of life. Diarrhea is severe, chronic and persistent despite bowel rest, resulting in electrolyte imbalance and dehydration. Moreover, an intestinal insufficiency leads to malabsorption, malnutrition, and growth impairment. Although most children present with isolated diarrhea, a small number of congenital tufting enteropathy (CTE) patients present with a syndromic form where diarrhea is associated with non-specific punctuated keratitis, and various malformations such as choanal atresia, esophageal atresia, imperforate anus, dysmorphic features, skeletal dysplasia, and (in one case) Dubowitz syndrome. Etiology CTE is related to abnormal enterocyte development and differentiation. Mutations in the EPCAM gene (2p21) are seen in 73% of CTE patients and are associated with the isolated intestinal disease. Mutations in the SPINT2 gene (19q13.2) are seen in 21% of CTE cases which are clinically characterized by the syndromic form of the disease. Rarely, CTE patients may present with isolated diarrhea but have no mutations in either EPCAM or SPINT2. Diagnostic methods Diagnosis is based on the combination of clinical and histological criteria. A congenital chronic diarrhea in the absence of an infectious or an inflammatory process, in association with various degrees of small and large bowel villous atrophy and specific histological abnormalities involving the focal crowding of surface enterocytes resembling ''tufts'', and branching crypts, allow for the diagnosis of CTE. When not all criteria are obvious one can be helped by the association of the non-syndromic form of the disease with negative EpCAM immunostaining on patient's duodenal biopsies ; or conversely in case of the syndromic form of the disease with a normal EpCAM immunostaining. To date, SPINT2 immunostaining on duodenal biopsies seems useless for the diagnosis. Molecular genetic testing, identifying a mutation in the EPCAM gene or SPINT2 can confirm diagnosis, however, some CTE patients do not have any identified genetic mutations. Differential diagnosis The differential diagnosis primarily includes other protracted congenital diarrhea disorders such as microvillus inclusion disease, congenital chloride diarrhea, congenital sodium diarrhea, and syndromic diarrhea, as well as glucose-galactose malabsorption. Antenatal diagnosis Prenatal diagnosis is available but can only be offered to families where a first case has already been described. The rarity of CTE and the absence of prenatal signs do not make it an appropriate candidate for either antenatal or postnatal mass screening. Genetic counseling CTE is transmitted in an autosomal recessive manner with high prevalence of consanguinity and affected siblings in families. Management and treatment To date there is no known curative treatment for CTE. Oral or enteral feedings worsen the diarrhea, however they should be maintained at the minimum tolerated level. CTE patients require daily, long-term parenteral support in order to maintain an adequate nutritional status. Life threatening complications related to intestinal failure and long-term parenteral nutrition may become an indication for intestinal transplantation, thus timing of referral to an expert center is crucial before the onset of severe complications. Prognosis Currently, children with CTE reach adulthood if long-term parenteral nutrition is conducted appropriately in an experienced center, otherwise the long-term prognosis may be reserved due to the complications of this delicate palliative treatment.

MalaCards based summary : Diarrhea 5, with Tufting Enteropathy, Congenital, also known as congenital tufting enteropathy, is related to trichohepatoenteric syndrome 1 and diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies, and has symptoms including infantile diarrhea An important gene associated with Diarrhea 5, with Tufting Enteropathy, Congenital is EPCAM (Epithelial Cell Adhesion Molecule), and among its related pathways/superpathways is CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF). Affiliated tissues include brain, small intestine and liver, and related phenotypes are arthritis and small for gestational age

Disease Ontology : 12 A congenital diarrhea characterized by intractable diarrhea of infancy with villous atrophy, absence of inflammation, and intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum that has material basis in homozygous or compound heterozygous mutation in the EPCAM gene on chromosome 2p21.

OMIM® : 57 Congenital tufting enteropathy (CTE) is a rare inherited intractable diarrhea of infancy characterized by villous atrophy and absence of inflammation, with intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum. CTE presents in the first few months of life with chronic watery diarrhea and failure to thrive, and most affected individuals require parenteral nutrition for normal growth and development (summary by Sivagnanam et al., 2008). Semiquantitative assessment of the epithelial surface in CTE patients revealed that 80 to 90% contained tufts, compared to only 16% in patients with celiac disease and less than 10% in normal jejunum (Reifen et al., 1994). For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700). (613217) (Updated 20-May-2021)

CDC : 3 CTE is a brain disease that can only be diagnosed after death. It has been linked to specific changes in the brain that affect how the brain works. The research to-date suggests that CTE is caused in part by repeated traumatic brain injuries, including concussions, and repeated hits to the head, called subconcussive head impacts.

UniProtKB/Swiss-Prot : 72 Diarrhea 5, with tufting enteropathy, congenital: An intractable diarrhea of infancy characterized by villous atrophy and absence of inflammation, with intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum.

Wikipedia : 73 Congenital tufting enteropathy is an inherited disorder of the small intestine that presents with... more...

Related Diseases for Diarrhea 5, with Tufting Enteropathy, Congenital

Diseases related to Diarrhea 5, with Tufting Enteropathy, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 101)
# Related Disease Score Top Affiliating Genes
1 trichohepatoenteric syndrome 1 31.4 TTC7A TTC37 SKIV2L
2 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies 30.2 SPINT2 SLC9A3
3 diarrhea 2, with microvillus atrophy 29.8 TTC7A TTC37 SLC9A3 SLC26A3 SKIV2L PLVAP
4 osmotic diarrhea 29.3 SLC9A3 SLC26A3
5 diarrhea 28.5 TTC37 SPINT2 SLC9A3 SLC26A3 SKIV2L PLVAP
6 congenital diarrhea 27.4 TTC7A TTC37 SPINT2 SLC9A3 SLC26A3 SKIV2L
7 syndromic congenital sodium diarrhea 11.3
8 dementia pugilistica 11.2
9 enterokinase deficiency 11.2
10 intermittent explosive disorder 11.0
11 congenital enteropathy involving intestinal mucosa development 11.0
12 dementia 11.0
13 encephalopathy 10.4
14 lynch syndrome 10.4
15 traumatic brain injury 10.3
16 lynch syndrome i 10.3
17 keratitis, hereditary 10.3
18 autosomal recessive disease 10.3
19 46,xy disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect 10.3
20 insulin-like growth factor i 10.2
21 enamel erosion 10.2 TTC7A TTC37
22 optic disc anomalies with retinal and/or macular dystrophy 10.1 TTC37 SKIV2L
23 amyotrophic lateral sclerosis 1 10.1
24 lateral sclerosis 10.1
25 choanal atresia, posterior 10.1
26 non-alcoholic fatty liver disease 10.1
27 conjunctivitis 10.1
28 arthritis 10.1
29 human immunodeficiency virus type 1 10.1
30 crohn's disease 10.1
31 brain injury 10.1
32 trichohepatoenteric syndrome 2 10.1 TTC37 SKIV2L
33 parastremmatic dwarfism 10.0
34 chromosome 2q35 duplication syndrome 10.0
35 esophageal atresia 10.0
36 osteochondrodysplasia 10.0
37 arthropathy 10.0
38 juvenile rheumatoid arthritis 10.0
39 dwarfism 10.0
40 diarrhea 8, secretory sodium, congenital 10.0 SLC9A3 MYO5B
41 renal oncocytoma 10.0 EPCAM CLDN7
42 ichthyosis, follicular 10.0 ST14 PRSS8
43 amyloidosis 10.0
44 pseudobulbar affect 10.0
45 chromophobe renal cell carcinoma 9.9 PRSS8 EPCAM CLDN7
46 proprotein convertase 1/3 deficiency 9.9 NEUROG3 MYO5B
47 attention deficit-hyperactivity disorder 9.9
48 aland island eye disease 9.9
49 anxiety 9.9
50 anaplastic large cell lymphoma 9.9

Graphical network of the top 20 diseases related to Diarrhea 5, with Tufting Enteropathy, Congenital:



Diseases related to Diarrhea 5, with Tufting Enteropathy, Congenital

Symptoms & Phenotypes for Diarrhea 5, with Tufting Enteropathy, Congenital

Human phenotypes related to Diarrhea 5, with Tufting Enteropathy, Congenital:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001369
2 small for gestational age 31 occasional (7.5%) HP:0001518
3 failure to thrive 58 31 Very frequent (99-80%) HP:0001508
4 villous atrophy 58 31 Very frequent (99-80%) HP:0011473
5 cataract 58 Occasional (29-5%)
6 skeletal dysplasia 58 Very rare (<4-1%)
7 malabsorption 58 Very frequent (99-80%)
8 photophobia 58 Occasional (29-5%)
9 dehydration 58 Frequent (79-30%)
10 vomiting 58 Very rare (<4-1%)
11 cholestatic liver disease 58 Very rare (<4-1%)
12 irritability 58 Frequent (79-30%)
13 anal atresia 58 Very rare (<4-1%)
14 choanal atresia 58 Very rare (<4-1%)
15 weight loss 58 Frequent (79-30%)
16 chronic diarrhea 58 Very frequent (99-80%)
17 optic nerve coloboma 58 Very rare (<4-1%)
18 steatorrhea 58 Frequent (79-30%)
19 corneal erosion 58 Occasional (29-5%)
20 oral cleft 58 Very rare (<4-1%)
21 abnormality of the skin 58 Occasional (29-5%)
22 abdominal distention 58 Frequent (79-30%)
23 punctate keratitis 58 Very rare (<4-1%)
24 secretory diarrhea 58 Frequent (79-30%)
25 intractable diarrhea 31 HP:0002041
26 abnormal small intestinal mucosa morphology 58 Frequent (79-30%)
27 elevated fecal osmolality 58 Frequent (79-30%)
28 abnormal large intestinal mucosa morphology 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

Growth Weight:
low birth weight (some)

Laboratory Abnormalities:
electrolyte disturbances from intractable diarrhea

Abdomen Gastrointestinal:
villous atrophy
diarrhea, intractable
crowded epithelial cells forming tufts
no lamina propria mononuclear cell infiltration
dependent on total parenteral nutrition (tpn)

Skeletal Limbs:
arthritis, chronic inflammatory (in some patients)

Clinical features from OMIM®:

613217 (Updated 20-May-2021)

UMLS symptoms related to Diarrhea 5, with Tufting Enteropathy, Congenital:


infantile diarrhea

MGI Mouse Phenotypes related to Diarrhea 5, with Tufting Enteropathy, Congenital:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 10.02 EPCAM MYO5B NEUROG3 PLVAP PRSS8 SLC26A3
2 endocrine/exocrine gland MP:0005379 9.91 EPCAM NEUROG3 PLVAP PRSS8 SLC26A3 SLC9A3
3 growth/size/body region MP:0005378 9.9 CLDN7 EPCAM MYO5B NEUROG3 PLVAP PRSS8
4 homeostasis/metabolism MP:0005376 9.7 BLOC1S1 CLDN7 EPCAM MYO5B NEUROG3 PLVAP
5 mortality/aging MP:0010768 9.4 BLOC1S1 CLDN7 EPCAM MYO5B NEUROG3 PLVAP

Drugs & Therapeutics for Diarrhea 5, with Tufting Enteropathy, Congenital

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Characterization Phenotypic and Genetic Study of the Intestinal Epithelial Dysplasia or TE Completed NCT01114035

Search NIH Clinical Center for Diarrhea 5, with Tufting Enteropathy, Congenital

Genetic Tests for Diarrhea 5, with Tufting Enteropathy, Congenital

Genetic tests related to Diarrhea 5, with Tufting Enteropathy, Congenital:

# Genetic test Affiliating Genes
1 Diarrhea 5, with Tufting Enteropathy, Congenital 29 EPCAM

Anatomical Context for Diarrhea 5, with Tufting Enteropathy, Congenital

MalaCards organs/tissues related to Diarrhea 5, with Tufting Enteropathy, Congenital:

40
Brain, Small Intestine, Liver, Eye, Temporal Lobe

Publications for Diarrhea 5, with Tufting Enteropathy, Congenital

Articles related to Diarrhea 5, with Tufting Enteropathy, Congenital:

(show top 50) (show all 51)
# Title Authors PMID Year
1
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form. 6 57 61
24142340 2014
2
Absence of cell-surface EpCAM in congenital tufting enteropathy. 61 6 57
23462293 2013
3
A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf. 61 57 6
21315192 2011
4
Further evidence for EpCAM as the gene for congenital tufting enteropathy. 61 57 6
20034091 2010
5
Identification of EpCAM as the gene for congenital tufting enteropathy. 6 57 61
18572020 2008
6
Tufting enteropathy and chronic arthritis: a newly recognized association with a novel EpCAM gene mutation. 57 6
19820410 2009
7
Tufting Enteropathy with EpCAM Mutations in Two Siblings. 6
20981223 2010
8
Intestinal epithelial dysplasia (tufting enteropathy). 57
17448233 2007
9
Intractable infant diarrhea with epithelial dysplasia associated with polymalformation. 57
9740211 1998
10
Syndrome of intractable diarrhoea with persistent villous atrophy in early childhood: a clinicopathological survey of 47 cases. 57
9481629 1998
11
Intractable diarrhea of infancy with epithelial and basement membrane abnormalities. 57
7636644 1995
12
Tufting enteropathy: a newly recognized clinicopathological entity associated with refractory diarrhea in infants. 57
8057225 1994
13
Familial enteropathy: a syndrome of protracted diarrhea from birth, failure to thrive, and hypoplastic villus atrophy. 57
100367 1978
14
Liver Pathology, Including MOC31 Immunohistochemistry, in Congenital Tufting Enteropathy. 61
33756496 2021
15
NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders. 61
33567694 2021
16
EpCAM (CD326) Regulates Intestinal Epithelial Integrity and Stem Cells via Rho-Associated Kinase. 61
33525555 2021
17
Congenital Tufting Enteropathy: Biology, Pathogenesis and Mechanisms. 61
33374714 2020
18
New mutation in EPCAM for congenital tufting enteropathy: A case report. 61
33195669 2020
19
Amelioration of Congenital Tufting Enteropathy in EpCAM (TROP1)-Deficient Mice via Heterotopic Expression of TROP2 in Intestinal Epithelial Cells. 61
32781650 2020
20
Congenital Tufting Enteropathy-Associated Mutant of Epithelial Cell Adhesion Molecule Activates the Unfolded Protein Response in a Murine Model of the Disease. 61
32290509 2020
21
A case of severe malnutrition infant with neonatal onset intractable diarrhea. 61
32293360 2020
22
Tufting Enteropathy: A Review of Clinical and Histological Presentation, Etiology, Management, and Outcome. 61
33029133 2020
23
Enteroids expressing a disease-associated mutant of EpCAM are a model for congenital tufting enteropathy. 61
31433211 2019
24
Matriptase drives early-onset intestinal failure in a mouse model of congenital tufting enteropathy. 61
31628112 2019
25
Shedding light on the EpCAM: An overview. 61
30628064 2019
26
EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome. 61
30461124 2019
27
Hepatocyte growth factor activator inhibitor-2 stabilizes Epcam and maintains epithelial organization in the mouse intestine. 61
30623107 2019
28
Functions of EpCAM in physiological processes and diseases (Review). 61
30015855 2018
29
Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys). 61
29575628 2018
30
Loss of HAI-2 in mice with decreased prostasin activity leads to an early-onset intestinal failure resembling congenital tufting enteropathy. 61
29617460 2018
31
Novel Mutations in EPCAM Cause Congenital Tufting Enteropathy. 61
27875355 2018
32
Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy. 61
28701297 2017
33
[The congenital tufting enteropathy, or when the intestine is under low cellular tension]. 61
28945548 2017
34
Identification of EPCAM mutation: clinical use of microarray. 61
28588851 2017
35
Matriptase-mediated cleavage of EpCAM destabilizes claudins and dysregulates intestinal epithelial homeostasis. 61
28094766 2017
36
Kocuria kristinae-caused sepsis in an infant with congenital tufting enteropathy. 61
29168373 2017
37
Congenital tufting enteropathy and chronic arthritis: a clinical and radiological perspective. 61
27558188 2016
38
Multilabel immunofluorescence and antigen reprobing on formalin-fixed paraffin-embedded sections: novel applications for precision pathology diagnosis. 61
26939874 2016
39
Genetic analysis of Italian patients with congenital tufting enteropathy. 61
26684320 2016
40
The role of EpCAM in physiology and pathology of the epithelium. 61
26493939 2016
41
The role of enterocyte defects in the pathogenesis of congenital diarrheal disorders. 61
26747865 2016
42
Mutation of EpCAM leads to intestinal barrier and ion transport dysfunction. 61
25482158 2015
43
Evaluation of intestinal biopsies for pediatric enteropathy: a proposed immunohistochemical panel approach. 61
25188866 2014
44
Congenital diseases of the gastrointestinal tract. 61
24940857 2014
45
Functional consequences of EpCam mutation in mice and men. 61
24337010 2014
46
A novel nonsense mutation in the EpCAM gene in a patient with congenital tufting enteropathy. 61
24048167 2014
47
EpCAM: structure and function in health and disease. 61
23618806 2013
48
Transcriptional Read-Through Induction Treatment Trial in Intestinal Failure Induced by an EpCAM Nonsense Mutation. 61
22991516 2012
49
mTrop1/Epcam knockout mice develop congenital tufting enteropathy through dysregulation of intestinal E-cadherin/β-catenin. 61
23209569 2012
50
Congenital tufting enteropathy in the era of molecular genetics. 61
21691225 2011

Variations for Diarrhea 5, with Tufting Enteropathy, Congenital

ClinVar genetic disease variations for Diarrhea 5, with Tufting Enteropathy, Congenital:

6 (show all 26)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EPCAM NM_002354.2(EPCAM):c.491+1G>A SNV Pathogenic 12771 rs606231203 GRCh37: 2:47602439-47602439
GRCh38: 2:47375300-47375300
2 EPCAM NM_002354.2(EPCAM):c.197G>A (p.Cys66Tyr) SNV Pathogenic 12773 rs267606785 GRCh37: 2:47600959-47600959
GRCh38: 2:47373820-47373820
3 EPCAM NM_002354.2(EPCAM):c.412C>T (p.Arg138Ter) SNV Pathogenic 40256 rs397514661 GRCh37: 2:47601174-47601174
GRCh38: 2:47374035-47374035
4 EPCAM NM_002354.2(EPCAM):c.491+1G>T SNV Pathogenic 220128 rs606231203 GRCh37: 2:47602439-47602439
GRCh38: 2:47375300-47375300
5 EPCAM NM_002354.2(EPCAM):c.429G>A (p.Trp143Ter) SNV Pathogenic 239127 rs878854488 GRCh37: 2:47602376-47602376
GRCh38: 2:47375237-47375237
6 EPCAM NM_002354.2(EPCAM):c.556-14A>G SNV Pathogenic 157603 rs376155665 GRCh37: 2:47606078-47606078
GRCh38: 2:47378939-47378939
7 EPCAM NM_002354.2(EPCAM):c.499dup (p.Gln167fs) Duplication Pathogenic 12774 rs606231204 GRCh37: 2:47604159-47604160
GRCh38: 2:47377020-47377021
8 EPCAM NM_002354.2(EPCAM):c.492-2A>G SNV Pathogenic 157604 rs606231281 GRCh37: 2:47604151-47604151
GRCh38: 2:47377012-47377012
9 EPCAM NM_002354.3(EPCAM):c.265C>T (p.Gln89Ter) SNV Pathogenic 800510 rs1324088403 GRCh37: 2:47601027-47601027
GRCh38: 2:47373888-47373888
10 EPCAM NM_002354.3(EPCAM):c.322A>T (p.Lys108Ter) SNV Pathogenic 1029590 GRCh37: 2:47601084-47601084
GRCh38: 2:47373945-47373945
11 EPCAM NM_002354.2(EPCAM):c.556-14A>G SNV Pathogenic 157603 rs376155665 GRCh37: 2:47606078-47606078
GRCh38: 2:47378939-47378939
12 EPCAM NM_002354.2(EPCAM):c.373_374insC (p.Arg125fs) Insertion Pathogenic 488505 rs1553342984 GRCh37: 2:47601135-47601136
GRCh38: 2:47373996-47373997
13 EPCAM NM_002354.3(EPCAM):c.13C>T (p.Gln5Ter) SNV Likely pathogenic 973534 GRCh37: 2:47596657-47596657
GRCh38: 2:47369518-47369518
14 EPCAM NM_002354.3(EPCAM):c.439G>T (p.Glu147Ter) SNV Likely pathogenic 973535 GRCh37: 2:47602386-47602386
GRCh38: 2:47375247-47375247
15 EPCAM NM_002354.3(EPCAM):c.426-1G>A SNV Conflicting interpretations of pathogenicity 12772 rs373597944 GRCh37: 2:47602372-47602372
GRCh38: 2:47375233-47375233
16 EPCAM NM_002354.2(EPCAM):c.577A>G (p.Ile193Val) SNV Uncertain significance 136027 rs200676965 GRCh37: 2:47606113-47606113
GRCh38: 2:47378974-47378974
17 EPCAM NM_002354.2(EPCAM):c.179C>T (p.Ser60Leu) SNV Uncertain significance 239124 rs147494515 GRCh37: 2:47600704-47600704
GRCh38: 2:47373565-47373565
18 EPCAM NM_002354.3(EPCAM):c.658-1G>T SNV Uncertain significance 801670 rs1573400213 GRCh37: 2:47606907-47606907
GRCh38: 2:47379768-47379768
19 EPCAM NM_002354.3(EPCAM):c.38T>C (p.Leu13Pro) SNV Uncertain significance 801668 rs776646187 GRCh37: 2:47596682-47596682
GRCh38: 2:47369543-47369543
20 EPCAM NM_002354.2(EPCAM):c.*362A>G SNV Likely benign 336422 rs539981178 GRCh37: 2:47614114-47614114
GRCh38: 2:47386975-47386975
21 EPCAM NC_000002.12:g.47387047_47387049CTT[2] Microsatellite Benign 801671 rs151274680 GRCh37: 2:47614184-47614186
GRCh38: 2:47387045-47387047
22 EPCAM NC_000002.12:g.47387080dup Duplication Benign 801672 rs565249366 GRCh37: 2:47614203-47614204
GRCh38: 2:47387064-47387065
23 EPCAM NC_000002.12:g.47387079_47387080dup Duplication Benign 801673 rs565249366 GRCh37: 2:47614203-47614204
GRCh38: 2:47387064-47387065
24 EPCAM NC_000002.12:g.47387076_47387080dup Duplication Benign 801674 rs565249366 GRCh37: 2:47614203-47614204
GRCh38: 2:47387064-47387065
25 EPCAM NC_000002.12:g.47387064C>T SNV Benign 801675 rs796191687 GRCh37: 2:47614203-47614203
GRCh38: 2:47387064-47387064
26 EPCAM NM_002354.3(EPCAM):c.76+21G>C SNV Benign 801669 rs762123721 GRCh37: 2:47596741-47596741
GRCh38: 2:47369602-47369602

UniProtKB/Swiss-Prot genetic disease variations for Diarrhea 5, with Tufting Enteropathy, Congenital:

72
# Symbol AA change Variation ID SNP ID
1 EPCAM p.Cys66Tyr VAR_063829 rs267606785

Expression for Diarrhea 5, with Tufting Enteropathy, Congenital

Search GEO for disease gene expression data for Diarrhea 5, with Tufting Enteropathy, Congenital.

Pathways for Diarrhea 5, with Tufting Enteropathy, Congenital

Pathways related to Diarrhea 5, with Tufting Enteropathy, Congenital according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.17 SPINT2 PRSS8

GO Terms for Diarrhea 5, with Tufting Enteropathy, Congenital

Cellular components related to Diarrhea 5, with Tufting Enteropathy, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basolateral plasma membrane GO:0016323 9.13 ST14 EPCAM CLDN7
2 Ski complex GO:0055087 8.62 TTC37 SKIV2L

Biological processes related to Diarrhea 5, with Tufting Enteropathy, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay GO:0043928 9.26 TTC37 SKIV2L
2 RNA catabolic process GO:0006401 9.16 TTC37 SKIV2L
3 positive regulation of cell motility GO:2000147 8.96 EPCAM CLDN7
4 epithelial cell morphogenesis involved in placental branching GO:0060672 8.62 ST14 SPINT2

Sources for Diarrhea 5, with Tufting Enteropathy, 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....