PPS
MCID: PPL025
MIFTS: 59

Popliteal Pterygium Syndrome (PPS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Popliteal Pterygium Syndrome

MalaCards integrated aliases for Popliteal Pterygium Syndrome:

Name: Popliteal Pterygium Syndrome 58 12 77 54 26 76 38 30 56 6 45 15 41 74
Pps 58 54 26 76
Facio-Genito-Popliteal Syndrome 12 26 60
Faciogenitopopliteal Syndrome 58 54 76
Popliteal Web Syndrome 12 60 74
Cleft Lip/palate, Paramedian Mucous Cysts of the Lower Lip, Popliteal Pterygium, Digital and Genital Anomalies 58 76
Popliteal Pterygium Syndrome 1 58 13
Cleft Lip/palate Paramedian Mucous Cysts of the Lower Lip Popliteal Pterygium Digital and Genital Anomalies 54
Autosomal Dominant Popliteal Pterygium Syndrome 60
Popliteal Pterygium 30

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant popliteal pterygium syndrome
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
clinical variability
incidence of 1 in 300,000


HPO:

33
popliteal pterygium syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Popliteal Pterygium Syndrome

NIH Rare Diseases : 54 Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip and/or a cleft palate. Other symptoms may include depressions (pits) near the center of the lower lip, small mounds of tissue on the lower lip, or missing teeth. Other features may include webs of skin on the backs of the legs across the knee joint (popliteal pterygium), webbing or fusion of the fingers or toes (syndactyly), triangular shaped folds of skin over the nails of the large toes, and tissue connecting the upper and lower eyelids or the upper and lower jaw. Affected people may also have abnormal genitals. There is no growth delay and intelligence is usually normal. Inheritance is autosomal dominant. It is caused by mutations in the IRF6 gene. Treatment may include reconstructive surgery for the oral defects, such as the cleft lip and cleft palate, and for other defects such as the popliteal pterygium or abnormal genitalia. Popliteal pterygium syndrome is part of the IRF6-related disorders which also include Van der Woude syndrome 2.

MalaCards based summary : Popliteal Pterygium Syndrome, also known as pps, is related to bartsocas-papas syndrome and van der woude syndrome 1. An important gene associated with Popliteal Pterygium Syndrome is IRF6 (Interferon Regulatory Factor 6), and among its related pathways/superpathways are Apoptosis Modulation and Signaling and Th17 cell differentiation. Affiliated tissues include skin, uterus and testes, and related phenotypes are joint stiffness and cleft palate

Disease Ontology : 12 An autosomal dominant disease characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has material basis in mutations in the IRF6 gene on chromosome 1.

Genetics Home Reference : 26 Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or both. Affected individuals may have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with popliteal pterygium syndrome have missing teeth.

CDC : 3 The National Institute for Occupational Safety and Health (NIOSH) Personal Protective Technology (PPT) Program’s mission is to prevent work-related injury, illness, and death by advancing the state of knowledge and application of PPT. PPT in this context is defined as the technical methods (e.g., fit testing methods), processes, techniques, tools, and materials that support the development and use of personal protective equipment (PPE) worn by individuals to reduce the effects of their exposure to a hazard.

UniProtKB/Swiss-Prot : 76 Popliteal pterygium syndrome: An autosomal dominant disorder characterized by oro-facial, skin and genital anomalies. Expressivity is variable. Clinical features include cleft lip/palate, lower lip cysts, syngnathia, congenital ankyloblepharon filiforme in some cases, bifid scrotum, hypoplastic scrotum, hypoplastic uterus, talipes equinovarus.

Wikipedia : 77 Popliteal pterygium syndrome (PPS) is an inherited condition affecting the face, limbs, and genitalia. ... more...

Description from OMIM: 119500

Related Diseases for Popliteal Pterygium Syndrome

Diseases related to Popliteal Pterygium Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 141)
# Related Disease Score Top Affiliating Genes
1 bartsocas-papas syndrome 34.1 IRF6 RIPK4 TP63
2 van der woude syndrome 1 32.8 GRHL3 IRF6 RIPK4 TFAP2A
3 cleft lip 29.9 GRHL3 IRF6 TFAP2A TGFB3 TP63
4 spondylohypoplasia, arthrogryposis and popliteal pterygium 12.5
5 postpoliomyelitis syndrome 11.6
6 irf6-related disorders 11.4
7 normokalemic periodic paralysis 11.1
8 parkinson disease 15, autosomal recessive early-onset 11.1
9 chaotic atrial tachycardia 11.1
10 syngnathia 10.4
11 choanal atresia, posterior 10.4
12 blood group, junior system 10.3
13 cleft lip and alveolus 10.2 IRF6 TP63
14 cleft lip/palate 10.2
15 branchiooculofacial syndrome 10.2 GRHL3 TFAP2A
16 isolated cleft lip 10.2 IRF6 TP63
17 pancreatic cancer 10.1
18 ankyloblepharon-ectodermal defects-cleft lip/palate 10.1 RIPK4 TP63
19 orofacial cleft 1 10.1
20 van der woude syndrome 2 10.1
21 marfan syndrome 10.0
22 amelia of upper limb 10.0
23 neonatal marfan syndrome 10.0
24 chromosome 1q21.1 deletion syndrome, 1.35-mb 10.0 CHUK IRF6 RIPK4 TP63
25 ichthyosis prematurity syndrome 10.0
26 depression 10.0
27 blood group, colton system 10.0
28 breast cancer 10.0
29 melanoma 10.0
30 pancreatitis 10.0
31 lacrimal duct obstruction 9.9 TFAP2A TP63
32 sorsby fundus dystrophy 9.9
33 septooptic dysplasia 9.9
34 disorganization, mouse, homolog of 9.9
35 peters-plus syndrome 9.9
36 leptin deficiency or dysfunction 9.9
37 nevus comedonicus 9.9
38 hydrocephalus 9.9
39 pemphigus foliaceus 9.9
40 walker-warburg syndrome 9.9
41 japanese encephalitis 9.9
42 patulous eustachian tube 9.9
43 kidney cancer 9.9
44 substance abuse 9.9
45 fundus dystrophy 9.9
46 psoriasis 9.9
47 congenital hydrocephalus 9.9
48 heparin-induced thrombocytopenia 9.9
49 pustular psoriasis 9.9
50 xp22.3 microdeletion syndrome 9.9

Graphical network of the top 20 diseases related to Popliteal Pterygium Syndrome:



Diseases related to Popliteal Pterygium Syndrome

Symptoms & Phenotypes for Popliteal Pterygium Syndrome

Human phenotypes related to Popliteal Pterygium Syndrome:

60 33 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
2 cleft palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000175
3 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
4 generalized hirsutism 60 33 hallmark (90%) Very frequent (99-80%) HP:0002230
5 thin upper lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000219
6 toe syndactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001770
7 finger syndactyly 60 33 frequent (33%) Frequent (79-30%) HP:0006101
8 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
9 abnormality of the nail 60 33 frequent (33%) Frequent (79-30%) HP:0001597
10 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
11 non-midline cleft lip 60 33 frequent (33%) Frequent (79-30%) HP:0100335
12 abnormality of the ribs 60 33 frequent (33%) Frequent (79-30%) HP:0000772
13 bifid scrotum 60 33 frequent (33%) Frequent (79-30%) HP:0000048
14 ankyloblepharon 60 33 frequent (33%) Frequent (79-30%) HP:0009755
15 scrotal hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0000046
16 hypoplastic labia majora 60 33 frequent (33%) Frequent (79-30%) HP:0000059
17 lip pit 60 33 frequent (33%) Frequent (79-30%) HP:0100267
18 nonketotic hyperglycinemia 60 33 frequent (33%) Frequent (79-30%) HP:0008288
19 fibrous syngnathia 60 33 frequent (33%) Frequent (79-30%) HP:0009754
20 popliteal pterygium 60 33 frequent (33%) Frequent (79-30%) HP:0009756
21 specific learning disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001328
22 choanal atresia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000453
23 split hand 60 33 occasional (7.5%) Occasional (29-5%) HP:0001171
24 ambiguous genitalia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000062
25 talipes equinovarus 33 HP:0001762
26 dementia 33 HP:0000726
27 spina bifida occulta 33 HP:0003298
28 cutaneous finger syndactyly 33 HP:0010554
29 cleft upper lip 33 HP:0000204
30 hypoplasia of the uterus 33 HP:0000013
31 lower lip pit 33 HP:0000196
32 hypoplasia of the vagina 33 HP:0008726
33 intercrural pterygium 33 HP:0009757
34 pyramidal skinfold extending from the base to the top of the nails 33 HP:0009758

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Mouth:
cleft palate
cleft lip
lower lip pits
lower lip cysts
syngnathia

Skeletal Feet:
talipes equinovarus

Genitourinary External Genitalia Male:
bifid scrotum
hypoplastic scrotum

Skin Nails Hair Skin:
popliteal pterygium
intercrural pterygium
variable skin syndactyly fingers and toes
pyramidal skinfold of halluces

Genitourinary Internal Genitalia Female:
hypoplastic vagina
hypoplastic uterus

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Spine:
spina bifida occulta

Genitourinary External Genitalia Female:
hypoplastic labia majora

Head And Neck Eyes:
congenital ankyloblepharon filiforme

Skin Nails Hair Hair:
unusual distribution of pubic hair with extension to inner aspect of thigh

Clinical features from OMIM:

119500

GenomeRNAi Phenotypes related to Popliteal Pterygium Syndrome according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Downregulation of NF-kappaB pathway after TNFalpha stimulation GR00199-A-2 8.8 CHUK IKBKG RIPK4

MGI Mouse Phenotypes related to Popliteal Pterygium Syndrome:

47 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.34 CHUK EREG FBN2 GRHL3 IKBKG IRF6
2 cellular MP:0005384 10.33 CHUK FBN2 GRHL3 IKBKG IRF6 LTBP4
3 digestive/alimentary MP:0005381 10.3 CHUK EREG GRHL3 IKBKG IRF6 JAG2
4 immune system MP:0005387 10.25 CDH17 CHUK EREG GRHL3 IKBKG JAG2
5 craniofacial MP:0005382 10.24 CHUK FBN2 GRHL3 IRF6 JAG2 RIPK4
6 cardiovascular system MP:0005385 10.21 CHUK FBN2 GRHL3 IKBKG LTBP4 NHLH1
7 hematopoietic system MP:0005397 10.16 CDH17 CHUK GRHL3 IKBKG JAG2 LTBP4
8 integument MP:0010771 10.14 CHUK EREG GRHL3 IKBKG IRF6 JAG2
9 mortality/aging MP:0010768 10.13 CHUK FBN2 GRHL3 IKBKG IRF6 JAG2
10 embryo MP:0005380 10.11 CHUK GRHL3 IRF6 JAG2 SFN TFAP2A
11 limbs/digits/tail MP:0005371 10.11 CHUK FBN2 GRHL3 IRF6 JAG2 MATN3
12 hearing/vestibular/ear MP:0005377 9.95 CHUK FBN2 IRF6 JAG2 SFN TFAP2A
13 respiratory system MP:0005388 9.81 CHUK FBN2 JAG2 LTBP4 RIPK4 SFN
14 neoplasm MP:0002006 9.8 CHUK EREG GRHL3 IKBKG LTBP4 SFN
15 skeleton MP:0005390 9.65 CHUK FBN2 GRHL3 IRF6 JAG2 MATN3
16 vision/eye MP:0005391 9.23 CHUK EREG FBN2 GRHL3 SFN TFAP2A

Drugs & Therapeutics for Popliteal Pterygium Syndrome

Search Clinical Trials , NIH Clinical Center for Popliteal Pterygium Syndrome

Cochrane evidence based reviews: popliteal pterygium syndrome

Genetic Tests for Popliteal Pterygium Syndrome

Genetic tests related to Popliteal Pterygium Syndrome:

# Genetic test Affiliating Genes
1 Popliteal Pterygium Syndrome 30 IRF6
2 Popliteal Pterygium 30

Anatomical Context for Popliteal Pterygium Syndrome

MalaCards organs/tissues related to Popliteal Pterygium Syndrome:

42
Skin, Uterus, Testes, Eye, Bone, Brain, Spinal Cord

Publications for Popliteal Pterygium Syndrome

Articles related to Popliteal Pterygium Syndrome:

(show top 50) (show all 793)
# Title Authors Year
1
Celastrol-loaded PEG-b-PPS nanocarriers as an anti-inflammatory treatment for atherosclerosis. ( 30601470 )
2019
2
Psychosis Polyrisk Score (PPS) for the Detection of Individuals At-Risk and the Prediction of Their Outcomes. ( 31057431 )
2019
3
Fabrication of Ultrafine PPS Fibers with High Strength and Tenacity via Melt Electrospinning. ( 30960514 )
2019
4
Healthcare-associated infections point prevalence survey and antimicrobials use in acute care hospitals (PPS 2016-2017) and long-term care facilities (HALT-3): a comprehensive report of the first experience in Molise Region, Central Italy, and targeted intervention strategies. ( 30745199 )
2019
5
Peripersonal space (PPS) as a multisensory interface between the individual and the environment, defining the space of the self. ( 30685486 )
2019
6
Popliteal pterygium syndrome: A rare syndrome. ( 30505101 )
2018
7
Use of ECDC PPS HAI&AU data to evaluate adherence to national guidelines for antimicrobial treatment of community-­acquired pneumonia ( 29465065 )
2018
8
A Novel Pathological Prognostic Score (PPS) to Identify "Very High-Risk" Patients: a Multicenter Retrospective Analysis of 506 Patients with High Risk Gastrointestinal Stromal Tumor (GIST). ( 30030719 )
2018
9
Longitudinal point prevalence survey of antibacterial use in Northern Ireland using the European Surveillance of Antimicrobial Consumption (ESAC) PPS and Global-PPS tool. ( 29690946 )
2018
10
Effect of Thermal Processing and Heat Treatment Condition on 3D Printing PPS Properties. ( 30960800 )
2018
11
Antimicrobial use in European acute care hospitals: results from the second point prevalence survey (PPS) of healthcare-associated infections and antimicrobial use, 2016 to 2017. ( 30458917 )
2018
12
Fabrication of a PPS Microporous Membrane for Efficient Water-in-Oil Emulsion Separation. ( 30125115 )
2018
13
Popliteal Pterygium Syndrome With Syngnathia. ( 28468208 )
2017
14
PPS Annual meeting Lund, Sweden 2016. ( 28727972 )
2017
15
A Unique pH-Dependent Recognition of Methylated Histone H3K4 by PPS and DIDO. ( 28919441 )
2017
16
Carriage of Mediterranean Fever (MEFV) Mutations in Patients with Postpericardiotomy Syndrome (PPS). ( 28971640 )
2017
17
Is there any difference in quality of prescribing between antibacterials and antifungals? Results from the first global point prevalence study (Global PPS) of antimicrobial consumption and resistance from 53 countries. ( 29091210 )
2017
18
Effects of Covalent Functionalization of MWCNTs on the Thermal Properties and Non-Isothermal Crystallization Behaviors of PPS Composites. ( 30965766 )
2017
19
Medicare Program; Hospital Inpatient Prospective Payment Systems for Acute Care Hospitals and the Long-Term Care Hospital Prospective Payment System and Policy Changes and Fiscal Year 2017 Rates; Quality Reporting Requirements for Specific Providers; Graduate Medical Education; Hospital Notification Procedures Applicable to Beneficiaries Receiving Observation Services; Technical Changes Relating to Costs to Organizations and Medicare Cost Reports; Finalization of Interim Final Rules With Comment Period on LTCH PPS Payments for Severe Wounds, Modifications of Limitations on Redesignation by the Medicare Geographic Classification Review Board, and Extensions of Payments to MDHs and Low-Volume Hospitals. Final rule. ( 27544939 )
2016
20
Enhancement of Carbon Nanotube Particle Distribution in PPS/PEEK/Carbon Nanotube Ternary Composites with Sausage-Like Structure. ( 30979147 )
2016
21
Effect of fiber-matrix adhesion on the creep behavior of CF/PPS composites: temperature and physical aging characterization. ( 30197569 )
2016
22
Commentary on pathologic diagnosis of asbestosis and critique of the 2010 Asbestosis Committee of the College of American Pathologists (CAP) and Pulmonary Pathology Society's (PPS) update on the diagnostic criteria for pathologic asbestosis. ( 26374489 )
2015
23
Symptomatic Accessory Medial Meniscus Associated With Popliteal Pterygium Syndrome. ( 25992493 )
2015
24
A Japanese family with popliteal pterygium syndrome. ( 27252970 )
2015
25
PPS proposed rule: A re-mix of the case-mix--or take them out of the recipe. ( 26596092 )
2015
26
Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders. ( 25691407 )
2015
27
Secondary nerve lengthening to obtain full knee extension in popliteal pterygium syndrome. ( 24683134 )
2014
28
Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa. ( 24936515 )
2014
29
Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome. ( 25388409 )
2014
30
Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report. ( 25547932 )
2014
31
Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability. ( 25548624 )
2014
32
PPS: A computing engine to find Palindromes in all Protein sequences. ( 24516327 )
2014
33
Long-term stability of the Leksell Gamma Knife® Perfexion™ patient positioning system (PPS). ( 24593715 )
2014
34
Guidance for research-practice partnerships (R-PPs) and collaborative research. ( 24783669 )
2014
35
Validation of a French version of the pure procrastination scale (PPS). ( 24920085 )
2014
36
Recessive loci Pps-1 and OM differentially regulate PISTILLATA-1 and APETALA3-1 expression for sepal and petal development in Papaver somniferum. ( 24979593 )
2014
37
Reflections on the introduction of the Palliative Performance Scale (PPS) to NHS Grampian: 5 years on. ( 25062382 )
2014
38
Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele. ( 23161355 )
2013
39
Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases. ( 23154523 )
2013
40
Novel NaCS-CS-PPS microcapsules as a potential enzyme-triggered release carrier for highly-loading 5-ASA. ( 23640018 )
2013
41
The fabrication, nano/micro-structure, heat- and wear-resistance of the superhydrophobic PPS/PTFE composite coatings. ( 23642807 )
2013
42
Reporting of quality measures in gynecologic oncology programs at Prospective Payment System (PPS)-Exempt Cancer Hospitals: an early glimpse into a challenging initiative. ( 23718934 )
2013
43
New regulations for Medicare's inpatient PPS introduce another reduction program. ( 23988593 )
2013
44
Conversion of Karnofsky Performance Status (KPS) and Eastern Cooperative Oncology Group Performance Status (ECOG) to Palliative Performance Scale (PPS), and the interchangeability of PPS and KPS in prognostic tools. ( 24380215 )
2013
45
Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome. ( 22197489 )
2012
46
Popliteal pterygium syndrome: a rare entity. ( 22953299 )
2012
47
Reliability and validity of the Thai translation (Thai PPS Adult Suandok) of the Palliative Performance Scale (PPSv2). ( 21993805 )
2012
48
Relationships between molecular structure and kinetic and thermodynamic controls in lipid systems. Part II: Phase behavior and transformation paths of SSS, PSS and PPS saturated triacylglycerols--effect of chain length mismatch. ( 22119325 )
2012
49
Role of rice PPS in late vegetative and reproductive growth. ( 22301968 )
2012
50
Medicare pilot program on bundled payments to health care providers could be the next PPS for dialysis. ( 22439371 )
2012

Variations for Popliteal Pterygium Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Popliteal Pterygium Syndrome:

76
# Symbol AA change Variation ID SNP ID
1 IRF6 p.Trp60Gly VAR_014965
2 IRF6 p.Lys66Thr VAR_014967
3 IRF6 p.Gln82Lys VAR_014970
4 IRF6 p.Arg84Cys VAR_014971 rs121434226
5 IRF6 p.Arg84His VAR_014972 rs121434227
6 IRF6 p.Lys89Glu VAR_014974
7 IRF6 p.Asp430Asn VAR_014991
8 IRF6 p.Leu22Pro VAR_030048 rs387906967
9 IRF6 p.Arg84Leu VAR_064475 rs121434227
10 IRF6 p.Ser424Leu VAR_064476 rs387906968

ClinVar genetic disease variations for Popliteal Pterygium Syndrome:

6 (show top 50) (show all 292)
# Gene Variation Type Significance SNP ID Assembly Location
1 IRF6 NM_006147.3(IRF6): c.1177C> T (p.Gln393Ter) single nucleotide variant Pathogenic rs121434225 GRCh37 Chromosome 1, 209963014: 209963014
2 IRF6 NM_006147.3(IRF6): c.1177C> T (p.Gln393Ter) single nucleotide variant Pathogenic rs121434225 GRCh38 Chromosome 1, 209789669: 209789669
3 IRF6 NM_006147.3(IRF6): c.250C> T (p.Arg84Cys) single nucleotide variant Pathogenic rs121434226 GRCh37 Chromosome 1, 209969822: 209969822
4 IRF6 NM_006147.3(IRF6): c.250C> T (p.Arg84Cys) single nucleotide variant Pathogenic rs121434226 GRCh38 Chromosome 1, 209796477: 209796477
5 IRF6 NM_006147.3(IRF6): c.251G> A (p.Arg84His) single nucleotide variant Pathogenic rs121434227 GRCh37 Chromosome 1, 209969821: 209969821
6 IRF6 NM_006147.3(IRF6): c.251G> A (p.Arg84His) single nucleotide variant Pathogenic rs121434227 GRCh38 Chromosome 1, 209796476: 209796476
7 IRF6 NM_006147.3(IRF6): c.16C> T (p.Arg6Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28942094 GRCh37 Chromosome 1, 209974743: 209974743
8 IRF6 NM_006147.3(IRF6): c.16C> T (p.Arg6Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28942094 GRCh38 Chromosome 1, 209801398: 209801398
9 IRF6 NM_006147.3(IRF6): c.1016G> T (p.Arg339Ile) single nucleotide variant Pathogenic rs121434231 GRCh37 Chromosome 1, 209963884: 209963884
10 IRF6 NM_006147.3(IRF6): c.1016G> T (p.Arg339Ile) single nucleotide variant Pathogenic rs121434231 GRCh38 Chromosome 1, 209790539: 209790539
11 IRF6 NM_006147.3(IRF6): c.65T> C (p.Leu22Pro) single nucleotide variant Pathogenic rs387906967 GRCh37 Chromosome 1, 209974694: 209974694
12 IRF6 NM_006147.3(IRF6): c.65T> C (p.Leu22Pro) single nucleotide variant Pathogenic rs387906967 GRCh38 Chromosome 1, 209801349: 209801349
13 IRF6 NM_006147.3(IRF6): c.251G> T (p.Arg84Leu) single nucleotide variant Pathogenic rs121434227 GRCh37 Chromosome 1, 209969821: 209969821
14 IRF6 NM_006147.3(IRF6): c.251G> T (p.Arg84Leu) single nucleotide variant Pathogenic rs121434227 GRCh38 Chromosome 1, 209796476: 209796476
15 IRF6 NM_006147.3(IRF6): c.1271C> T (p.Ser424Leu) single nucleotide variant Pathogenic rs387906968 GRCh37 Chromosome 1, 209961898: 209961898
16 IRF6 NM_006147.3(IRF6): c.1271C> T (p.Ser424Leu) single nucleotide variant Pathogenic rs387906968 GRCh38 Chromosome 1, 209788553: 209788553
17 RIPK4 NM_020639.2(RIPK4): c.1884C> T (p.Ser628=) single nucleotide variant Uncertain significance rs55812846 GRCh37 Chromosome 21, 43161469: 43161469
18 RIPK4 NM_020639.2(RIPK4): c.1884C> T (p.Ser628=) single nucleotide variant Uncertain significance rs55812846 GRCh38 Chromosome 21, 41741309: 41741309
19 IRF6 NM_006147.3(IRF6): c.1210G> A (p.Glu404Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs769068305 GRCh37 Chromosome 1, 209961959: 209961959
20 IRF6 NM_006147.3(IRF6): c.1210G> A (p.Glu404Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs769068305 GRCh38 Chromosome 1, 209788614: 209788614
21 IRF6 NM_006147.3(IRF6): c.1316T> C (p.Leu439Pro) single nucleotide variant Pathogenic rs886038202 GRCh38 Chromosome 1, 209788508: 209788508
22 IRF6 NM_006147.3(IRF6): c.1316T> C (p.Leu439Pro) single nucleotide variant Pathogenic rs886038202 GRCh37 Chromosome 1, 209961853: 209961853
23 IRF6 NM_006147.3(IRF6): c.1153T> C (p.Leu385=) single nucleotide variant Benign rs61099902 GRCh37 Chromosome 1, 209963038: 209963038
24 IRF6 NM_006147.3(IRF6): c.1153T> C (p.Leu385=) single nucleotide variant Benign rs61099902 GRCh38 Chromosome 1, 209789693: 209789693
25 IRF6 NM_006147.3(IRF6): c.820G> A (p.Val274Ile) single nucleotide variant Benign rs2235371 GRCh37 Chromosome 1, 209964080: 209964080
26 IRF6 NM_006147.3(IRF6): c.820G> A (p.Val274Ile) single nucleotide variant Benign rs2235371 GRCh38 Chromosome 1, 209790735: 209790735
27 IRF6 NM_006147.3(IRF6): c.759T> C (p.Tyr253=) single nucleotide variant Likely benign rs41303263 GRCh37 Chromosome 1, 209964141: 209964141
28 IRF6 NM_006147.3(IRF6): c.759T> C (p.Tyr253=) single nucleotide variant Likely benign rs41303263 GRCh38 Chromosome 1, 209790796: 209790796
29 IRF6 NM_006147.3(IRF6): c.459G> T (p.Ser153=) single nucleotide variant Benign rs2013162 GRCh37 Chromosome 1, 209968684: 209968684
30 IRF6 NM_006147.3(IRF6): c.459G> T (p.Ser153=) single nucleotide variant Benign rs2013162 GRCh38 Chromosome 1, 209795339: 209795339
31 RIPK4 NM_020639.2(RIPK4): c.2331G> A (p.Thr777=) single nucleotide variant Benign rs7276592 GRCh37 Chromosome 21, 43161022: 43161022
32 RIPK4 NM_020639.2(RIPK4): c.2331G> A (p.Thr777=) single nucleotide variant Benign rs7276592 GRCh38 Chromosome 21, 41740862: 41740862
33 RIPK4 NM_020639.2(RIPK4): c.1996A> G (p.Met666Val) single nucleotide variant Benign rs3746891 GRCh38 Chromosome 21, 41741197: 41741197
34 RIPK4 NM_020639.2(RIPK4): c.1996A> G (p.Met666Val) single nucleotide variant Benign rs3746891 GRCh37 Chromosome 21, 43161357: 43161357
35 RIPK4 NM_020639.2(RIPK4): c.1548C> T (p.Asp516=) single nucleotide variant Benign rs2838113 GRCh37 Chromosome 21, 43161805: 43161805
36 RIPK4 NM_020639.2(RIPK4): c.1548C> T (p.Asp516=) single nucleotide variant Benign rs2838113 GRCh38 Chromosome 21, 41741645: 41741645
37 RIPK4 NM_020639.2(RIPK4): c.1476G> A (p.Ala492=) single nucleotide variant Benign rs3746893 GRCh37 Chromosome 21, 43161877: 43161877
38 RIPK4 NM_020639.2(RIPK4): c.1476G> A (p.Ala492=) single nucleotide variant Benign rs3746893 GRCh38 Chromosome 21, 41741717: 41741717
39 RIPK4 NM_020639.2(RIPK4): c.1203C> T (p.Gly401=) single nucleotide variant Benign rs3746894 GRCh38 Chromosome 21, 41741990: 41741990
40 RIPK4 NM_020639.2(RIPK4): c.1203C> T (p.Gly401=) single nucleotide variant Benign rs3746894 GRCh37 Chromosome 21, 43162150: 43162150
41 RIPK4 NM_020639.2(RIPK4): c.1005G> T (p.Leu335=) single nucleotide variant Benign rs2277789 GRCh37 Chromosome 21, 43164232: 43164232
42 RIPK4 NM_020639.2(RIPK4): c.1005G> T (p.Leu335=) single nucleotide variant Benign rs2277789 GRCh38 Chromosome 21, 41744072: 41744072
43 IRF6 NM_006147.3(IRF6): c.226C> T (p.Pro76Ser) single nucleotide variant Pathogenic rs886039388 GRCh37 Chromosome 1, 209969846: 209969846
44 IRF6 NM_006147.3(IRF6): c.226C> T (p.Pro76Ser) single nucleotide variant Pathogenic rs886039388 GRCh38 Chromosome 1, 209796501: 209796501
45 IRF6 NM_006147.3(IRF6): c.*2472G> A single nucleotide variant Likely benign rs188593210 GRCh38 Chromosome 1, 209785948: 209785948
46 IRF6 NM_006147.3(IRF6): c.*2472G> A single nucleotide variant Likely benign rs188593210 GRCh37 Chromosome 1, 209959293: 209959293
47 IRF6 NM_006147.3(IRF6): c.*1678delT deletion Benign rs141112353 GRCh37 Chromosome 1, 209960087: 209960087
48 IRF6 NM_006147.3(IRF6): c.*1678delT deletion Benign rs141112353 GRCh38 Chromosome 1, 209786742: 209786742
49 IRF6 NM_006147.3(IRF6): c.*1473C> G single nucleotide variant Likely benign rs531092939 GRCh37 Chromosome 1, 209960292: 209960292
50 IRF6 NM_006147.3(IRF6): c.*1473C> G single nucleotide variant Likely benign rs531092939 GRCh38 Chromosome 1, 209786947: 209786947

Expression for Popliteal Pterygium Syndrome

Search GEO for disease gene expression data for Popliteal Pterygium Syndrome.

Pathways for Popliteal Pterygium Syndrome

GO Terms for Popliteal Pterygium Syndrome

Cellular components related to Popliteal Pterygium Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 IkappaB kinase complex GO:0008385 8.62 CHUK IKBKG

Biological processes related to Popliteal Pterygium Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.85 CHUK GRHL3 IRF6 TFAP2A TGFB3 TP63
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.76 CHUK GRHL3 IKBKG IRF6 NHLH1 TFAP2A
3 wound healing GO:0042060 9.65 EREG GRHL3 TGFB3
4 establishment of planar polarity GO:0001736 9.49 GRHL3 TP63
5 eyelid development in camera-type eye GO:0061029 9.46 GRHL3 TFAP2A
6 keratinocyte proliferation GO:0043616 9.43 EREG IRF6
7 positive regulation of bone mineralization GO:0030501 9.43 FBN2 TFAP2A TGFB3
8 MyD88-independent toll-like receptor signaling pathway GO:0002756 9.4 CHUK IKBKG
9 regulation of epidermal cell division GO:0010482 9.32 SFN TP63
10 establishment of skin barrier GO:0061436 9.13 GRHL3 SFN TP63
11 keratinocyte differentiation GO:0030216 9.02 EREG IRF6 KRT10 SFN TP63

Molecular functions related to Popliteal Pterygium Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta binding GO:0050431 8.96 LTBP4 TGFB3
2 extracellular matrix structural constituent GO:0005201 8.8 FBN2 LTBP4 MATN3

Sources for Popliteal Pterygium Syndrome

3 CDC
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10 dbSNP
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