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 57
Neuronal Intestinal Pseudoobstruction 59

Classifications:



External Ids:

OMIM 57 243185
Orphanet 59 ORPHA99811
ICD10 via Orphanet 34 K59.8
MESH via Orphanet 45 C537394
UMLS via Orphanet 74 C1855733
MedGen 42 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...

Clinical features from OMIM:

243185

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

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malabsorption 59 32 hallmark (90%) Very frequent (99-80%) HP:0002024
2 patent ductus arteriosus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001643
3 decreased antibody level in blood 59 32 hallmark (90%) Very frequent (99-80%) HP:0004313
4 recurrent infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002719
5 congenital diaphragmatic hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000776
6 natal tooth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000695
7 abnormality of the cardiac septa 59 Frequent (79-30%)
8 abnormal cardiac septum morphology 32 frequent (33%) HP:0001671

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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