MCID: INT302
MIFTS: 16

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 58
Neuronal Intestinal Pseudoobstruction 60

Classifications:



External Ids:

OMIM 58 243185
MESH via Orphanet 46 C537394
ICD10 via Orphanet 35 K59.8
UMLS via Orphanet 75 C1855733
Orphanet 60 ORPHA99811
MedGen 43 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 natal teeth, intestinal pseudoobstruction and patent ductus and intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked. 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

Description 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 natal teeth, intestinal pseudoobstruction and patent ductus 11.8
2 intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked 11.7

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

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

60 33 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malabsorption 60 33 hallmark (90%) Very frequent (99-80%) HP:0002024
2 patent ductus arteriosus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001643
3 decreased antibody level in blood 60 33 hallmark (90%) Very frequent (99-80%) HP:0004313
4 recurrent infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0002719
5 natal tooth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000695
6 congenital diaphragmatic hernia 60 33 frequent (33%) Frequent (79-30%) HP:0000776
7 abnormal cardiac septum morphology 33 frequent (33%) HP:0001671
8 abnormality of the cardiac septa 60 Frequent (79-30%)

Clinical features from OMIM:

243185

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...

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 Year
1
The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28. ( 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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