MCID: INT302
MIFTS: 17

Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth

Categories: Gastrointestinal diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Intestinal Pseudoobstruction with Patent Ductus Arteriosus and...

MalaCards integrated aliases for Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth:

Name: Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth 57 20
Neuronal Intestinal Pseudoobstruction 58 29
Natal Teeth, Intestinal Pseudoobstruction and Patent Ductus 20

Classifications:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

OMIM® 57 243185
MESH via Orphanet 45 C537394
ICD10 via Orphanet 33 K59.8
UMLS via Orphanet 71 C1855733
Orphanet 58 ORPHA99811
MedGen 41 C1855732

Summaries for Intestinal Pseudoobstruction with Patent Ductus Arteriosus and...

MalaCards based summary : Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth, also known as neuronal intestinal pseudoobstruction, is related to intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked and hirschsprung disease 1. An important gene associated with Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth is FLNA (Filamin A). Related phenotypes are malabsorption and patent ductus arteriosus

More information from OMIM: 243185

Related Diseases for Intestinal Pseudoobstruction with Patent Ductus Arteriosus and...

Diseases related to Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked 11.3
2 hirschsprung disease 1 10.0
3 congenital short bowel syndrome 10.0

Symptoms & Phenotypes for Intestinal Pseudoobstruction with Patent Ductus Arteriosus and...

Human phenotypes related to Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malabsorption 58 31 hallmark (90%) Very frequent (99-80%) HP:0002024
2 patent ductus arteriosus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001643
3 recurrent infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002719
4 natal tooth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000695
5 decreased circulating antibody level 31 hallmark (90%) HP:0004313
6 abnormal cardiac septum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001671
7 congenital diaphragmatic hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000776
8 decreased antibody level in blood 58 Very frequent (99-80%)

Clinical features from OMIM®:

243185 (Updated 20-May-2021)

Drugs & Therapeutics for Intestinal Pseudoobstruction with Patent Ductus Arteriosus and...

Search Clinical Trials , NIH Clinical Center for Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth

Genetic Tests for Intestinal Pseudoobstruction with Patent Ductus Arteriosus and...

Genetic tests related to Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth:

# Genetic test Affiliating Genes
1 Neuronal Intestinal Pseudoobstruction 29

Anatomical Context for Intestinal Pseudoobstruction with Patent Ductus Arteriosus and...

Publications for Intestinal Pseudoobstruction with Patent Ductus Arteriosus and...

Articles related to Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth:

# Title Authors PMID Year
1
Natal teeth, patent ductus arteriosus and intestinal pseudo-obstruction: a lethal syndrome in the newborn. 57
1269170 1976
2
The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28. 61
8644737 1996

Variations for Intestinal Pseudoobstruction with Patent Ductus Arteriosus and...

Expression for Intestinal Pseudoobstruction with Patent Ductus Arteriosus and...

Search GEO for disease gene expression data for Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth.

Pathways for Intestinal Pseudoobstruction with Patent Ductus Arteriosus and...

GO Terms for Intestinal Pseudoobstruction with Patent Ductus Arteriosus and...

Sources for Intestinal Pseudoobstruction with Patent Ductus Arteriosus and...

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
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