MCID: PLV019
MIFTS: 8

Pelvic Lipomatosis with Crossed Renal Ectopia

Categories: Nephrological diseases

Aliases & Classifications for Pelvic Lipomatosis with Crossed Renal Ectopia

MalaCards integrated aliases for Pelvic Lipomatosis with Crossed Renal Ectopia:

Name: Pelvic Lipomatosis with Crossed Renal Ectopia 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
pelvic lipomatosis with crossed renal ectopia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 169545
MedGen 41 C1868511
SNOMED-CT via HPO 68 16507009 263681008

Summaries for Pelvic Lipomatosis with Crossed Renal Ectopia

MalaCards based summary : Pelvic Lipomatosis with Crossed Renal Ectopia Affiliated tissues include kidney, and related phenotypes are abnormality of metabolism/homeostasis and ectopic kidney

More information from OMIM: 169545

Related Diseases for Pelvic Lipomatosis with Crossed Renal Ectopia

Symptoms & Phenotypes for Pelvic Lipomatosis with Crossed Renal Ectopia

Human phenotypes related to Pelvic Lipomatosis with Crossed Renal Ectopia:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 31 HP:0001939
2 ectopic kidney 31 HP:0000086
3 abnormality of abdomen morphology 31 HP:0001438

Symptoms via clinical synopsis from OMIM:

56
Abdomen:
pelvic lipomatosis

Lab:
translocations of chromosomes 1, 6 and 8

G U:
ectopic kidneys

Clinical features from OMIM:

169545

Drugs & Therapeutics for Pelvic Lipomatosis with Crossed Renal Ectopia

Search Clinical Trials , NIH Clinical Center for Pelvic Lipomatosis with Crossed Renal Ectopia

Genetic Tests for Pelvic Lipomatosis with Crossed Renal Ectopia

Anatomical Context for Pelvic Lipomatosis with Crossed Renal Ectopia

MalaCards organs/tissues related to Pelvic Lipomatosis with Crossed Renal Ectopia:

40
Kidney

Publications for Pelvic Lipomatosis with Crossed Renal Ectopia

Articles related to Pelvic Lipomatosis with Crossed Renal Ectopia:

# Title Authors PMID Year
1
Crossed renal ectopia with pelvic lipomatosis: a new syndrome involving chromosome 1. 56
1511984 1992

Variations for Pelvic Lipomatosis with Crossed Renal Ectopia

Expression for Pelvic Lipomatosis with Crossed Renal Ectopia

Search GEO for disease gene expression data for Pelvic Lipomatosis with Crossed Renal Ectopia.

Pathways for Pelvic Lipomatosis with Crossed Renal Ectopia

GO Terms for Pelvic Lipomatosis with Crossed Renal Ectopia

Sources for Pelvic Lipomatosis with Crossed Renal Ectopia

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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