MCID: CLL022
MIFTS: 5

Collins Pope Syndrome

Categories: Rare diseases

Aliases & Classifications for Collins Pope Syndrome

MalaCards integrated aliases for Collins Pope Syndrome:

Name: Collins Pope Syndrome 54
Dislocation of the Hip Dysmorphism 54

Classifications:



Summaries for Collins Pope Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2412Disease definitionDislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995.Visit the Orphanet disease page for more resources.

MalaCards based summary : Collins Pope Syndrome, also known as dislocation of the hip dysmorphism, is related to dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism. Affiliated tissues include heart and eye.

Related Diseases for Collins Pope Syndrome

Diseases related to Collins Pope Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism 11.4

Symptoms & Phenotypes for Collins Pope Syndrome

Drugs & Therapeutics for Collins Pope Syndrome

Search Clinical Trials , NIH Clinical Center for Collins Pope Syndrome

Genetic Tests for Collins Pope Syndrome

Anatomical Context for Collins Pope Syndrome

MalaCards organs/tissues related to Collins Pope Syndrome:

42
Heart, Eye

Publications for Collins Pope Syndrome

Variations for Collins Pope Syndrome

Expression for Collins Pope Syndrome

Search GEO for disease gene expression data for Collins Pope Syndrome.

Pathways for Collins Pope Syndrome

GO Terms for Collins Pope Syndrome

Sources for Collins Pope Syndrome

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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