MCID: DRR003
MIFTS: 30

Diarrhea 5, with Tufting Enteropathy, Congenital malady

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases

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

About this section

Aliases & Descriptions for Diarrhea 5, with Tufting Enteropathy, Congenital:

Name: Diarrhea 5, with Tufting Enteropathy, Congenital 52 70 12 68
Tufting Enteropathy 11 48 54
Congenital Familial Intractable Diarrhea with Epithelial or Epithelium Abnormalities 11 54
Congenital Diarrhea 5 with Tufting Enteropathy 11 27
Intestinal Epithelial Dysplasia 48 54
Congenital Tufting Enteropathy 11 70
Diar5 11 70
 
Ied 48 54
Congenital Familial Intractable Diarrhea with Enterocytes Assembly Abnormalities 48
Intestinal Epithelial Cell Dysplasia 70
Intestinal Intraepithelial Neoplasia 68
Congenital Enteropathy 48
Cte 70

Characteristics:

Orphanet epidemiological data:

54
tufting enteropathy:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages

HPO:

64
diarrhea 5, with tufting enteropathy, congenital:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 613217
Disease Ontology11 DOID:0060776
ICD1030 P78.3
Orphanet54 ORPHA92050
ICD10 via Orphanet31 P78.3
MedGen37 C2750737
MeSH39 D003968

Summaries for Diarrhea 5, with Tufting Enteropathy, Congenital

About this section
OMIM:52 Congenital tufting enteropathy (CTE) is a rare inherited intractable diarrhea of infancy characterized by villous... (613217) more...

MalaCards based summary: Diarrhea 5, with Tufting Enteropathy, Congenital, also known as tufting enteropathy, is related to mitochondrial complex i deficiency and bare lymphocyte syndrome, type i, and has symptoms including arthritis, small for gestational age and failure to thrive. An important gene associated with Diarrhea 5, with Tufting Enteropathy, Congenital is EPCAM (Epithelial Cell Adhesion Molecule).

Disease Ontology:11 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.

UniProtKB/Swiss-Prot:70 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.

Related Diseases for Diarrhea 5, with Tufting Enteropathy, Congenital

About this section

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

(show top 50)    (show all 454)
idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial complex i deficiency12.2
2bare lymphocyte syndrome, type i12.1
3carbamoylphosphate synthetase i deficiency12.1
4sialidosis, type i12.1
5tyrosinemia, type i12.1
6orofaciodigital syndrome i12.0
7complement factor i deficiency12.0
83-methylglutaconic aciduria, type i12.0
9cataract 13 with adult i phenotype12.0
10trichorhinophalangeal syndrome, type i12.0
11osteogenesis imperfecta, type i12.0
12pseudohypoaldosteronism, type i12.0
13microcephalic osteodysplastic primordial dwarfism, type i12.0
14thanatophoric dysplasia, type i12.0
15xanthinuria, type i12.0
16chiari malformation type i12.0
17schindler disease, type i12.0
18bipolar i disorder12.0
19insulin-like growth factor i12.0
20glutaricaciduria, type i12.0
21adult i phenotype without cataract12.0
22gaucher disease, type i11.9
23plasminogen deficiency, type i11.9
24methemoglobinemia, type i11.9
25corneal dystrophy, lattice type i11.9
26fanconi anemia, complementation group i11.9
27autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia11.9
28stickler syndrome, type i11.9
29gm1-gangliosidosis, type i11.9
30hypoaldosteronism, congenital, due to cmo i deficiency11.9
31mucopolysaccharidosis is11.9
32pseudohypoaldosteronism type i, autosomal dominant11.9
33gtp cyclohydrolase i deficiency11.9
34c8 deficiency, type i11.9
35angioedema, hereditary, types i and ii11.8
36mannosidosis, alpha-, types i and ii11.8
37crigler-najjar syndrome, type i11.8
38porphyria cutanea tarda, type i11.8
39mitochondrial complex i deficiency due to acad9 deficiency11.8
40neuronopathy, distal hereditary motor, type i11.8
41ocular albinism, type i, nettleship-falls type11.8
42otopalatodigital syndrome, type i11.8
43atelosteogenesis, type i11.8
44hyperprolinemia, type i11.7
45vitamin d-dependent rickets, type i11.7
46transcobalamin i deficiency11.7
47keratosis palmoplantaris striata i, ad11.7
48dentin dysplasia, type i, with microdontia and misshapen teeth11.7
49cockayne syndrome type i11.7
50hereditary antithrombin deficiency type i11.7

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

About this section

Symptoms by clinical synopsis from OMIM:

613217

Clinical features from OMIM:

613217

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

 64
id Description HPO Frequency HPO Source Accession
1 arthritis64 rare (5%) HP:0001369
2 small for gestational age64 rare (5%) HP:0001518
3 failure to thrive64 HP:0001508
4 intractable diarrhea64 HP:0002041
5 villous atrophy64 HP:0011473

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


infantile diarrhea

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

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Characterization Phenotypic and Genetic Study of the Intestinal Epithelial Dysplasia or Tufting Enteropathy (TE)CompletedNCT01114035

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

Genetic Tests for Diarrhea 5, with Tufting Enteropathy, Congenital

About this section

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

id Genetic test Affiliating Genes
1 Diarrhea 5, with Tufting Enteropathy, Congenital27

Anatomical Context for Diarrhea 5, with Tufting Enteropathy, Congenital

About this section

Publications for Diarrhea 5, with Tufting Enteropathy, Congenital

About this section

Variations for Diarrhea 5, with Tufting Enteropathy, Congenital

About this section

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

70
id Symbol AA change Variation ID SNP ID
1EPCAMp.Cys66TyrVAR_063829rs267606785

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1EPCAMNM_002354.2(EPCAM): c.491+1G> ASNVPathogenicrs606231203GRCh38Chr 2, 47375300: 47375300
2EPCAMNM_002354.2(EPCAM): c.426-1G> ASNVPathogenicrs373597944GRCh38Chr 2, 47375233: 47375233
3EPCAMNM_002354.2(EPCAM): c.197G> A (p.Cys66Tyr)SNVPathogenicrs267606785GRCh37Chr 2, 47600959: 47600959
4EPCAMNM_002354.2(EPCAM): c.499dupC (p.Gln167Profs)duplicationPathogenicrs606231204GRCh38Chr 2, 47377021: 47377021
5EPCAMNM_002354.2(EPCAM): c.556-14A> GSNVPathogenicrs376155665GRCh38Chr 2, 47378939: 47378939
6EPCAMNM_002354.2(EPCAM): c.492-2A> GSNVPathogenicrs606231281GRCh38Chr 2, 47377012: 47377012
7EPCAMNM_002354.2(EPCAM): c.412C> T (p.Arg138Ter)SNVPathogenicrs397514661GRCh37Chr 2, 47601174: 47601174

Expression for genes affiliated with Diarrhea 5, with Tufting Enteropathy, Congenital

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

Pathways for genes affiliated with Diarrhea 5, with Tufting Enteropathy, Congenital

About this section

GO Terms for genes affiliated with Diarrhea 5, with Tufting Enteropathy, Congenital

About this section

Sources for Diarrhea 5, with Tufting Enteropathy, Congenital

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet