MCID: CLL022
MIFTS: 4

Collins Pope Syndrome

Categories: Rare diseases

Aliases & Classifications for Collins Pope Syndrome

MalaCards integrated aliases for Collins Pope Syndrome:

Name: Collins Pope Syndrome 52
Dislocation of the Hip Dysmorphism 52

Classifications:



Summaries for Collins Pope Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2412 Definition Dislocation 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 eye and heart.

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 11.5

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:

40
Eye, Heart

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
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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