MCID: PLY135
MIFTS: 30

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 53 69
Polydactyly-Myopia Syndrome 53 55
Pms 53 49
Postaxial Polydactyly-Progressive Myopia Syndrome 49
Postaxial Polydactyly with Progressive Myopia 49
Polydactyly-Myopia Syndrome; Pms 53
Polydactyly Myopia Syndrome 49
Czeizel Brooser Syndrome 49
Czeizel-Brooser Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
polydactyly-myopia syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
polydactyly, postaxial, with progressive myopia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 174310
Orphanet 55 ORPHA2917
UMLS via Orphanet 70 C1868117
ICD10 via Orphanet 33 Q87.2
MedGen 39 C1868117
UMLS 69 C1868117

Summaries for Polydactyly, Postaxial, with Progressive Myopia

NIH Rare Diseases : 49 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 polydactyly-myopia syndrome, is related to polymyositis and premenstrual tension, and has symptoms including inguinal hernia, cryptorchidism and myopia. Affiliated tissues include bone.

Description from OMIM: 174310

Related Diseases for Polydactyly, Postaxial, with Progressive Myopia

Diseases related to Polydactyly, Postaxial, with Progressive Myopia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 polymyositis 11.7
2 premenstrual tension 11.2
3 phelan-mcdermid syndrome 11.1
4 juvenile polymyositis 11.1
5 pyomyositis 10.9
6 scleroderma, familial progressive 10.0
7 body mass index quantitative trait locus 11 10.0
8 body mass index quantitative trait locus 9 10.0
9 body mass index quantitative trait locus 8 10.0
10 body mass index quantitative trait locus 4 10.0
11 body mass index quantitative trait locus 10 10.0
12 body mass index quantitative trait locus 7 10.0
13 body mass index quantitative trait locus 12 10.0
14 body mass index quantitative trait locus 14 10.0
15 body mass index quantitative trait locus 18 10.0
16 myositis 9.9
17 dermatomyositis 9.9
18 hypertriglyceridemia, familial 9.8
19 prader-willi syndrome 9.8
20 paine syndrome 9.8
21 hypertriglyceridemia, transient infantile 9.8
22 episodic pain syndrome, familial, 1 9.8
23 bone fracture 9.8
24 pulmonary emphysema 9.8
25 patellofemoral pain syndrome 9.8
26 spondylolysis 9.8
27 lipodystrophy 9.8
28 acute mountain sickness 9.8
29 anterior cruciate ligament tears 9.8
30 breast cancer 9.7
31 inclusion body myositis 9.7
32 osteoarthritis with mild chondrodysplasia 9.7
33 resting heart rate, variation in 9.7
34 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.7
35 gastric cancer 9.7
36 ischemic heart disease 9.7
37 osteoarthritis 9.7
38 estrogen-receptor negative breast cancer 9.7
39 heart disease 9.7
40 urethritis 9.7
41 premature ejaculation 9.7
42 cholera 9.7
43 interstitial lung disease 9.7
44 rhabdomyosarcoma 9.7
45 myopathy 9.7
46 pancreatitis 9.7
47 hereditary wilms' tumor 9.7
48 connective tissue disease 9.7
49 cerebrovascular disease 9.7
50 lung disease 9.7

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:

53
Limbs:
postaxial polydactyly

Eyes:
progressive myopia


Clinical features from OMIM:

174310

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

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 55 31 frequent (33%) Frequent (79-30%) HP:0000023
2 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
3 myopia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000545
4 postaxial hand polydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001162
5 femoral hernia 55 31 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:

38
Bone

Publications for Polydactyly, Postaxial, with Progressive Myopia

Articles related to Polydactyly, Postaxial, with Progressive Myopia:

(show top 50) (show all 91)
# Title Authors Year
1
Image Gallery: Palmoplantar hyperkeratosis in dermatomyositis with anti-PM/Scl antibodies. ( 28504398 )
2017
2
Letter to the editor regarding Robinson PM et al: "Randomized controlled trial of supervised physiotherapy versus a home exercise program after hydrodilatation for the management of primary frozen shoulder". ( 29046254 )
2017
3
RASSF4 controls SOCE and ER-PM junctions through regulation of PI(4,5)P2. ( 28600435 )
2017
4
Pulmonary Rehabilitation Improves Exercise Capacity And Molecular Skeletal Muscle Adaptation In Pulmonary Emphysema Patients: 2972 Board #37 June 3, 3: 30 PM - 5: 00 PM. ( 27361541 )
2016
5
Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions. ( 27044099 )
2016
6
Core Neuromuscular Training; a Physical Activity Intervention for Individuals with Patellofemoral Pain Syndrome: 3294 Board #359 June 3, 3: 30 PM - 5: 00 PM. ( 27361863 )
2016
7
Short and Long Term Outcomes in Acute versus Chronic Lumbar Spondylolysis in Adolescents Athletes: 1858 Board #10 June 2, 2: 00 PM - 3: 30 PM. ( 27360683 )
2016
8
Post-exercise Recovery Among Hiv+ And Hiv- Hispanic Adults: Role Of Metabolic Syndrome And Lipodystrophy Status: 1952 Board #104 June 2, 2: 00 PM - 3: 30 PM. ( 27360777 )
2016
9
Effect Of Hypertriglyceridemia, Sugar Ingestion, And Exercise On Substrate Metabolism In Overweight And Obese Individuals: 1900 Board #52 June 2, 3: 30 PM - 5: 00 PM. ( 27360725 )
2016
10
Sport Practice And Occurrence Of Bone Fracture In Adolescents During 9-months Of Follow-up: 2090 Board #242 June 2, 2: 00 PM - 3: 30 PM. ( 27360915 )
2016
11
Diet-induced Obesity and Matrix Metalloproteinase Gene Expression at the Onset of Skeletal Muscle Regeneration: 2078 Board #230 June 2, 2: 00 PM - 3: 30 PM. ( 27360903 )
2016
12
Sedentary Behavior is Negatively Associated with Hip Bone Mineralization in Youth with Prader-Willi Syndrome: 1134 Board #8 June 1, 3: 15 PM - 5: 15 PM. ( 27584290 )
2016
13
Differential Expression Of Pgc1I+4 During Skeletal Muscle Regeneration And Myogenic Differentiation: 2069 Board #221 June 2, 2: 00 PM - 3: 30 PM. ( 27360894 )
2016
14
Four Cases of Anti-PM/Scl Antibody-positive Juvenile Overlap Syndrome with Features of Myositis and Systemic Sclerosis. ( 27587018 )
2016
15
Delayed Reconstruction for Symptomatic Anterior Cruciate Ligament Tears: A population-based study: 3102 Board #167 June 3, 3: 30 PM - 5: 00 PM. ( 27361671 )
2016
16
Objectively Measured Aerobic and Resistance Exercise and Cardiovascular Disease Risk Factor Response: 2164 Board #316 June 2, 3: 30 PM - 5: 00 PM. ( 27360989 )
2016
17
Relation of Activity Patterns and Biochemical Factors to Acute Mountain Sickness in the South Pole: 2056 Board #208 June 2, 3: 30 PM - 5: 00 PM. ( 27360881 )
2016
18
Anti-PM/Scl antibodies are found in Japanese patients with various systemic autoimmune conditions besides myositis and scleroderma. ( 25885224 )
2015
19
Proteomic mapping of ER-PM junctions identifies STIMATE as a regulator of Ca(2+) influx. ( 26322679 )
2015
20
PEA-15 facilitates EGFR dephosphorylation via ERK sequestration at increased ER-PM contacts in TNBC cells. ( 25796184 )
2015
21
Fast endocytic recycling determines TRPC1-STIM1 clustering in ER-PM junctions and plasma membrane function of the channel. ( 26232624 )
2015
22
p53-Dependent apoptosis induced in human bronchial epithelial (16-HBE) cells by PM(2.5) sampled from air in Guangzhou, China. ( 25133668 )
2014
23
Cytoplasmic p21(CIP1/WAF1), ERK1/2 activation, and cytoskeletal remodeling are associated with the senescence-like phenotype after airborne particulate matter (PM(10)) exposure in lung cells. ( 24291038 )
2014
24
The Assessment of the Oncological Safety Margin of Insufficient Lymph Node Dissection in pT2 (pm) Gastric Cancer. ( 24339288 )
2014
25
Ischemic heart disease mortality and PM(3.5) in a cohort of autoworkers. ( 23280679 )
2013
26
Skin lesions in anti-Pm-Scl-70 positive systemic sclerosis-dermatomyositis overlap syndrome improve during local PUVA phototherapy. ( 24126033 )
2013
27
Lipid interaction triggering Septin2 to assembly into I^-sheet structures investigated by Langmuir monolayers and PM-IRRAS. ( 23416254 )
2013
28
PI(4,5)P(2)-dependent and Ca(2+)-regulated ER-PM interactions mediated by the extended synaptotagmins. ( 23791178 )
2013
29
Electrochemical and PM-IRRAS characterization of cholera toxin binding at a model biological membrane. ( 23256886 )
2013
30
Acupuncture for PTSD, naturopathy for cardiovascular risk; yoga for osteoarthritis; chasteberry for PMS; and antioxidants for cardiovascular events. ( 24199780 )
2013
31
Anti-PM-Scl antibody in patients with systemic sclerosis. ( 22261302 )
2012
32
Smeulders N, Makin E, Desai D, Duffy PG, Healy C, Cuckow PM et al. The predictive value of a repeat micturating cystourethrogram for remnant leaflets after primary endoscopic ablation of posterior urethral valves. J Pediatr Urol 2011; 7: 203-8. ( 21616720 )
2012
33
eNOS gene polymorphisms modify the association of PM(10) with oxidative stress. ( 22982457 )
2012
34
Effects of thoracic and fine PM and their components on heart rate and pulmonary function in COPD patients. ( 21407271 )
2011
35
Effects of acupuncture at 7-9 am and 3-5 pm on plasma thromboxane and prostaglandin in patients with ischemic cerebrovascular disease. ( 20397453 )
2010
36
Antibodies to fibrillarin, PM-Scl and RNA polymerase III detected by ELISA assays in patients with systemic sclerosis. ( 20138166 )
2010
37
Long-term outcome of patients with polymyositis/ dermatomyositis and anti-PM-Scl antibody. ( 19845665 )
2010
38
Interstitial lung disease associated with anti-PM/Scl or anti-aminoacyl-tRNA synthetase autoantibodies: a similar condition? ( 20231208 )
2010
39
Use of human bronchial epithelial cells (BEAS-2B) to study immunological markers resulting from exposure to PM(2.5) organic extract from Puerto Rico. ( 20026096 )
2010
40
Widespread papules in a patient with human immunodeficiency virus. Papular mucinosis (PM) in association with HIV infection. ( 20831608 )
2010
41
Specific anchoring modes of two distinct dystrophin rod sub-domains interacting in phospholipid Langmuir films studied by atomic force microscopy and PM-IRRAS. ( 20399196 )
2010
42
Development of electrogenerated chemiluminescence-based enzyme linked immunosorbent assay for sub-pM detection. ( 20143889 )
2010
43
Temporal-spatial analysis of U.S.-Mexico border environmental fine and coarse PM air sample extract activity in human bronchial epithelial cells. ( 19410595 )
2009
44
Activation of TRPC1 by STIM1 in ER-PM microdomains involves release of the channel from its scaffold caveolin-1. ( 19897728 )
2009
45
Antibodies against PM/Scl-75 and PM/Scl-100 are independent markers for different subsets of systemic sclerosis patients. ( 19220911 )
2009
46
HLA-DPB1 associations differ between DRB1*03 positive anti-Jo-1 and anti-PM-Scl antibody positive idiopathic inflammatory myopathy. ( 19690132 )
2009
47
PM1-Alpha ELISA: the assay of choice for the detection of anti-PM/Scl autoantibodies? ( 19103309 )
2009
48
Clathrin-independent endocytosis: a unique platform for cell signaling and PM remodeling. ( 18647649 )
2009
49
Detecting pM concentrations of prostaglandins in cell culture supernatants by capillary SCX-LC-MS/MS. ( 18618469 )
2008
50
Effects of the CYP3A5 genotype on omeprazole sulfoxidation in CYP2C19 PMs. ( 18214455 )
2008

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

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