TIA
MCID: AGN004
MIFTS: 23

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 57 20 6
Near-Total Intestinal Aganglionosis 20
Rare Form of Hirschsprung's Disease 20
Aganglionosis, Total Colonic 20
Ntia 20
Tia 20

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
aganglionosis, total intestinal:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 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 syndrome type 4 and transient cerebral ischemia. An important gene associated with Aganglionosis, Total Intestinal is EDNRB-AS1 (EDNRB Antisense RNA 1). Affiliated tissues include small intestine and colon, 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 256)
# Related Disease Score Top Affiliating Genes
1 waardenburg syndrome type 4 29.8 EDNRB-AS1 EDNRB
2 transient cerebral ischemia 11.7
3 stroke, ischemic 11.4
4 mini stroke 11.3
5 carotid artery disease 11.1
6 moyamoya disease 1 10.9
7 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 10.9
8 carotid stenosis 10.5
9 cerebrovascular disease 10.5
10 atrial fibrillation 10.4
11 patent foramen ovale 10.3
12 vascular disease 10.3
13 amaurosis fugax 10.2
14 migraine with or without aura 1 10.2
15 sleep apnea 10.2
16 volvulus of midgut 10.1
17 microcolon 10.1
18 short bowel syndrome 10.1
19 intestinal obstruction 10.1
20 waardenburg's syndrome 10.1
21 ischemia 10.1
22 headache 10.1
23 peripheral vascular disease 10.1
24 alcohol use disorder 10.1
25 lipid metabolism disorder 10.1
26 atrial septal aneurysm 10.1
27 hypercholesterolemia, familial, 1 10.0
28 coronary heart disease 1 10.0
29 mild cognitive impairment 10.0
30 pure autonomic failure 10.0
31 rapidly involuting congenital hemangioma 10.0
32 cerebral amyloid angiopathy, cst3-related 10.0
33 asplenia, isolated congenital 10.0
34 fabry disease 10.0
35 orthostatic intolerance 10.0
36 myocardial infarction 10.0
37 aphasia 10.0
38 lymphoma 10.0
39 clopidogrel resistance 10.0
40 aneurysm 10.0
41 specific language disorder 10.0
42 yemenite deaf-blind hypopigmentation syndrome 9.9
43 anxiety 9.9
44 west nile virus 9.9
45 angina pectoris 9.9
46 peripheral t-cell lymphoma 9.9
47 peripheral artery disease 9.9
48 leukemia 9.9
49 retinal ischemia 9.9
50 post-traumatic stress disorder 9.9

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®:

57 (Updated 05-Mar-2021)
G I:
aganglionosis, total intestinal

Clinical features from OMIM®:

202550 (Updated 05-Mar-2021)

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
Small Intestine, Colon

Publications for Aganglionosis, Total Intestinal

Articles related to Aganglionosis, Total Intestinal:

# Title Authors PMID Year
1
Total intestinal aganglionosis. An autosomal recessive condition? 57
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-AS1 NM_001122659.3(EDNRB):c.1013C>T (p.Pro338Leu) SNV Likely pathogenic 619135 rs1566304640 13:78474728-78474728 13:77900593-77900593
2 EDNRB-AS1 NM_001122659.3(EDNRB):c.553G>A (p.Val185Met) SNV Likely pathogenic 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
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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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