MCID: CLL022
MIFTS: 6

Collins Pope Syndrome

Categories: Rare diseases

Aliases & Classifications for Collins Pope Syndrome

MalaCards integrated aliases for Collins Pope Syndrome:

Name: Collins Pope Syndrome 53
Dislocation of the Hip Dysmorphism 53

Classifications:



Summaries for Collins Pope Syndrome

NIH Rare Diseases : 53 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:

41
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 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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