MCID: INF059
MIFTS: 12

Infundibulopelvic Dysgenesis

Categories: Rare diseases

Aliases & Classifications for Infundibulopelvic Dysgenesis

MalaCards integrated aliases for Infundibulopelvic Dysgenesis:

Name: Infundibulopelvic Dysgenesis 56 52 71

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
infundibulopelvic dysgenesis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 600989
MedGen 41 C1832949
UMLS 71 C1832949

Summaries for Infundibulopelvic Dysgenesis

MalaCards based summary : Infundibulopelvic Dysgenesis is related to constipation, and has symptoms including abdominal pain Affiliated tissues include kidney, and related phenotypes are abdominal pain and multicystic kidney dysplasia

More information from OMIM: 600989

Related Diseases for Infundibulopelvic Dysgenesis

Diseases related to Infundibulopelvic Dysgenesis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 constipation 10.2

Symptoms & Phenotypes for Infundibulopelvic Dysgenesis

Human phenotypes related to Infundibulopelvic Dysgenesis:

31
# Description HPO Frequency HPO Source Accession
1 abdominal pain 31 HP:0002027
2 multicystic kidney dysplasia 31 HP:0000003
3 microscopic hematuria 31 HP:0002907

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
abdominal pain

Genitourinary Kidneys:
cystic kidneys
infundibulopelvic dysgenesis

Laboratory Abnormalities:
hematuria

Clinical features from OMIM:

600989

UMLS symptoms related to Infundibulopelvic Dysgenesis:


abdominal pain

Drugs & Therapeutics for Infundibulopelvic Dysgenesis

Search Clinical Trials , NIH Clinical Center for Infundibulopelvic Dysgenesis

Genetic Tests for Infundibulopelvic Dysgenesis

Anatomical Context for Infundibulopelvic Dysgenesis

MalaCards organs/tissues related to Infundibulopelvic Dysgenesis:

40
Kidney

Publications for Infundibulopelvic Dysgenesis

Articles related to Infundibulopelvic Dysgenesis:

# Title Authors PMID Year
1
Infundibulopelvic stenosis, multicystic kidney, and calyectasis in a kindred: clinical observations and genetic analysis. 56
8588589 1995
2
Symptomatic infundibulopelvic dysgenesis in an adolescent. 61
25949844 2015
3
Infundibulopelvic dysgenesis: a spectrum of obstructive renal disease. 61
2321327 1990

Variations for Infundibulopelvic Dysgenesis

Expression for Infundibulopelvic Dysgenesis

Search GEO for disease gene expression data for Infundibulopelvic Dysgenesis.

Pathways for Infundibulopelvic Dysgenesis

GO Terms for Infundibulopelvic Dysgenesis

Sources for Infundibulopelvic Dysgenesis

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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