MCID: PLY135
MIFTS: 19

Polydactyly, Postaxial, with Progressive Myopia

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Polydactyly, Postaxial, with Progressive Myopia

MalaCards integrated aliases for Polydactyly, Postaxial, with Progressive Myopia:

Name: Polydactyly, Postaxial, with Progressive Myopia 54 69
Postaxial Polydactyly-Progressive Myopia Syndrome 50
Postaxial Polydactyly with Progressive Myopia 50
Polydactyly Myopia Syndrome 50
Polydactyly-Myopia Syndrome 56
Czeizel Brooser Syndrome 50
Czeizel-Brooser Syndrome 56
Pms 50

Characteristics:

Orphanet epidemiological data:

56
polydactyly-myopia syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
polydactyly, postaxial, with progressive myopia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 174310
Orphanet 56 ORPHA2917
UMLS via Orphanet 70 C1868117
ICD10 via Orphanet 34 Q87.2

Summaries for Polydactyly, Postaxial, with Progressive Myopia

NIH Rare Diseases : 50 polydactyly myopia syndrome is characterized by postaxial polydactyly (the presence of an extra digit on the side of the hand or foot by the pinky or small toe) and progressive myopia. this condition was originally described in 9 persons in 4 generations of a family in hungary in 1986. family history suggests autosomal dominant inheritance. last updated: 9/26/2013

MalaCards based summary : Polydactyly, Postaxial, with Progressive Myopia, also known as postaxial polydactyly-progressive myopia syndrome, is related to polymyositis and phelan-mcdermid syndrome, and has symptoms including myopia and postaxial hand polydactyly. Affiliated tissues include bone.

Description from OMIM: 174310

Related Diseases for Polydactyly, Postaxial, with Progressive Myopia

Graphical network of the top 20 diseases related to Polydactyly, Postaxial, with Progressive Myopia:



Diseases related to Polydactyly, Postaxial, with Progressive Myopia

Symptoms & Phenotypes for Polydactyly, Postaxial, with Progressive Myopia

Symptoms via clinical synopsis from OMIM:

54

Limbs:
postaxial polydactyly

Eyes:
progressive myopia


Clinical features from OMIM:

174310

Human phenotypes related to Polydactyly, Postaxial, with Progressive Myopia:

32
id Description HPO Frequency HPO Source Accession
1 myopia 32 HP:0000545
2 postaxial hand polydactyly 32 HP:0001162

Drugs & Therapeutics for Polydactyly, Postaxial, with Progressive Myopia

Search Clinical Trials , NIH Clinical Center for Polydactyly, Postaxial, with Progressive Myopia

Genetic Tests for Polydactyly, Postaxial, with Progressive Myopia

Anatomical Context for Polydactyly, Postaxial, with Progressive Myopia

MalaCards organs/tissues related to Polydactyly, Postaxial, with Progressive Myopia:

39
Bone

Publications for Polydactyly, Postaxial, with Progressive Myopia

Variations for Polydactyly, Postaxial, with Progressive Myopia

Expression for Polydactyly, Postaxial, with Progressive Myopia

Search GEO for disease gene expression data for Polydactyly, Postaxial, with Progressive Myopia.

Pathways for Polydactyly, Postaxial, with Progressive Myopia

GO Terms for Polydactyly, Postaxial, with Progressive Myopia

Sources for Polydactyly, Postaxial, with Progressive Myopia

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10 dbSNP
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65 SNOMED-CT via HPO
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70 UMLS via Orphanet
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