TIA
MCID: AGN004
MIFTS: 22

Aganglionosis, Total Intestinal (TIA)

Categories: Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Aganglionosis, Total Intestinal

MalaCards integrated aliases for Aganglionosis, Total Intestinal:

Name: Aganglionosis, Total Intestinal 56 52 6
Near-Total Intestinal Aganglionosis 52
Rare Form of Hirschsprung's Disease 52
Aganglionosis, Total Colonic 52
Ntia 52
Tia 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
aganglionosis, total intestinal:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 202550
MedGen 41 C0345240
SNOMED-CT via HPO 68 204745000 258211005

Summaries for Aganglionosis, Total Intestinal

MalaCards based summary : Aganglionosis, Total Intestinal, also known as near-total intestinal aganglionosis, is related to waardenburg's syndrome and transient cerebral ischemia. An important gene associated with Aganglionosis, Total Intestinal is EDNRB (Endothelin Receptor Type B). Affiliated tissues include colon and small intestine, and related phenotype is total intestinal aganglionosis.

More information from OMIM: 202550

Related Diseases for Aganglionosis, Total Intestinal

Diseases related to Aganglionosis, Total Intestinal via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 201)
# Related Disease Score Top Affiliating Genes
1 waardenburg's syndrome 29.1 EDNRB-AS1 EDNRB
2 transient cerebral ischemia 12.4
3 mini stroke 11.9
4 stroke, ischemic 11.9
5 moyamoya disease 1 11.7
6 carotid artery disease 11.7
7 hirschsprung disease 1 11.6
8 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 11.2
9 carotid stenosis 10.7
10 cerebrovascular disease 10.6
11 vascular disease 10.5
12 atrial fibrillation 10.5
13 migraine with or without aura 1 10.4
14 patent foramen ovale 10.4
15 amaurosis fugax 10.4
16 ischemia 10.3
17 sleep apnea 10.3
18 thrombophilia due to thrombin defect 10.2
19 peripheral vascular disease 10.2
20 pure autonomic failure 10.2
21 headache 10.2
22 seizure disorder 10.2
23 alcohol use disorder 10.2
24 atrial septal aneurysm 10.2
25 volvulus of midgut 10.2
26 microcolon 10.2
27 waardenburg syndrome, type 4c 10.2
28 short bowel syndrome 10.2
29 intestinal obstruction 10.2
30 waardenburg syndrome type 4 10.2
31 cerebral amyloid angiopathy, cst3-related 10.2
32 hypercholesterolemia, familial, 1 10.2
33 orthostatic intolerance 10.2
34 visual epilepsy 10.2
35 carotid artery occlusion 10.2
36 specific language disorder 10.2
37 fabry disease 10.1
38 coronary heart disease 1 10.1
39 lipid metabolism disorder 10.1
40 asplenia, isolated congenital 10.0
41 yemenite deaf-blind hypopigmentation syndrome 10.0
42 angina pectoris 10.0
43 peripheral artery disease 10.0
44 aphasia 10.0
45 migraine with aura 10.0
46 retinal ischemia 10.0
47 post-traumatic stress disorder 10.0
48 arteriosclerosis 10.0
49 thrombophilia 10.0
50 acute stress disorder 10.0

Graphical network of the top 20 diseases related to Aganglionosis, Total Intestinal:



Diseases related to Aganglionosis, Total Intestinal

Symptoms & Phenotypes for Aganglionosis, Total Intestinal

Human phenotypes related to Aganglionosis, Total Intestinal:

31
# Description HPO Frequency HPO Source Accession
1 total intestinal aganglionosis 31 HP:0005241

Symptoms via clinical synopsis from OMIM:

56
G I:
aganglionosis, total intestinal

Clinical features from OMIM:

202550

Drugs & Therapeutics for Aganglionosis, Total Intestinal

Search Clinical Trials , NIH Clinical Center for Aganglionosis, Total Intestinal

Genetic Tests for Aganglionosis, Total Intestinal

Anatomical Context for Aganglionosis, Total Intestinal

MalaCards organs/tissues related to Aganglionosis, Total Intestinal:

40
Colon, Small Intestine

Publications for Aganglionosis, Total Intestinal

Articles related to Aganglionosis, Total Intestinal:

# Title Authors PMID Year
1
Total intestinal aganglionosis. An autosomal recessive condition? 56
596929 1977
2
Familial Near-Total Intestinal Aganglionosis. 61
28920022 2017
3
A rare case of multiple skip segment Hirschsprung's disease in the ileum and colon. 61
24178302 2014
4
Long-term outcome of total colonic aganglionosis. 61
18855314 2008
5
Three-dimensional morphology of gut innervation in total intestinal aganglionosis using whole-mount preparation. 61
11172418 2001
6
Aganglionosis of the small intestine: a rare form of Hirschsprung's disease. 61
10745745 1999

Variations for Aganglionosis, Total Intestinal

ClinVar genetic disease variations for Aganglionosis, Total Intestinal:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EDNRB NM_001122659.3(EDNRB):c.1013C>T (p.Pro338Leu)SNV Likely pathogenic 619135 rs1566304640 13:78474728-78474728 13:77900593-77900593
2 EDNRB NM_001122659.3(EDNRB):c.553G>A (p.Val185Met)SNV Conflicting interpretations of pathogenicity 619136 rs781214034 13:78477673-78477673 13:77903538-77903538

Expression for Aganglionosis, Total Intestinal

Search GEO for disease gene expression data for Aganglionosis, Total Intestinal.

Pathways for Aganglionosis, Total Intestinal

GO Terms for Aganglionosis, Total Intestinal

Sources for Aganglionosis, Total Intestinal

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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