MCID: PLY135
MIFTS: 22

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 57 73
Polydactyly-Myopia Syndrome 57 59
Pms 57 53
Postaxial Polydactyly-Progressive Myopia Syndrome 53
Postaxial Polydactyly with Progressive Myopia 53
Polydactyly-Myopia Syndrome; Pms 57
Polydactyly Myopia Syndrome 53
Czeizel Brooser Syndrome 53
Czeizel-Brooser Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
polydactyly-myopia syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

OMIM 57 174310
Orphanet 59 ORPHA2917
UMLS via Orphanet 74 C1868117
ICD10 via Orphanet 34 Q87.2
MedGen 42 C1868117
UMLS 73 C1868117

Summaries for Polydactyly, Postaxial, with Progressive Myopia

NIH Rare Diseases : 53 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.

MalaCards based summary : Polydactyly, Postaxial, with Progressive Myopia, also known as polydactyly-myopia syndrome, is related to polymyositis and premenstrual tension. Affiliated tissues include bone, and related phenotypes are myopia and postaxial hand polydactyly

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:

57
Limbs:
postaxial polydactyly

Eyes:
progressive myopia


Clinical features from OMIM:

174310

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

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000545
2 postaxial hand polydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001162
3 inguinal hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000023
4 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
5 femoral hernia 59 32 frequent (33%) Frequent (79-30%) HP:0100541

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:

41
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

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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