PPS
MCID: PPL025
MIFTS: 56

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 57 12 76 53 25 75 37 29 55 6 44 15 40 73
Pps 57 53 25 75
Facio-Genito-Popliteal Syndrome 12 25 59
Faciogenitopopliteal Syndrome 57 53 75
Popliteal Web Syndrome 12 59 73
Cleft Lip/palate, Paramedian Mucous Cysts of the Lower Lip, Popliteal Pterygium, Digital and Genital Anomalies 57 75
Popliteal Pterygium Syndrome 1 57 13
Cleft Lip/palate Paramedian Mucous Cysts of the Lower Lip Popliteal Pterygium Digital and Genital Anomalies 53
Autosomal Dominant Popliteal Pterygium Syndrome 59
Popliteal Pterygium 29

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant popliteal pterygium syndrome
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
clinical variability
incidence of 1 in 300,000


HPO:

32
popliteal pterygium syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Popliteal Pterygium Syndrome

NIH Rare Diseases : 53 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 NF-kappaB Signaling and Hypothetical Craniofacial Development Pathway. Affiliated tissues include skin, uterus and testes, and related phenotypes are finger syndactyly and scoliosis

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 : 25 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 : 75 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 : 76 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 104)
# Related Disease Score Top Affiliating Genes
1 bartsocas-papas syndrome 33.7 RIPK4 IRF6
2 van der woude syndrome 1 32.2 TFAP2A IRF6 GRHL3
3 cleft lip 29.9 TFAP2A IRF6 GRHL3
4 spondylohypoplasia, arthrogryposis and popliteal pterygium 12.4
5 postpoliomyelitis syndrome 11.6
6 irf6-related disorders 11.3
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 alzheimer disease 10.4
13 cleft lip/palate 10.2
14 alkuraya-kucinskas syndrome 10.2
15 marfan syndrome 10.0
16 amelia of upper limb 10.0
17 neonatal marfan syndrome 10.0
18 inclusion body myositis 10.0
19 myositis 10.0
20 depression 10.0
21 melanoma 10.0
22 sorsby fundus dystrophy 9.9
23 hypochondroplasia 9.9
24 septooptic dysplasia 9.9
25 pancreatic cancer 9.9
26 peters-plus syndrome 9.9
27 hydrocephalus 9.9
28 pemphigus foliaceus 9.9
29 walker-warburg syndrome 9.9
30 japanese encephalitis 9.9
31 kidney cancer 9.9
32 fundus dystrophy 9.9
33 psoriasis 9.9
34 pustular psoriasis 9.9
35 branchiooculofacial syndrome 9.8 TFAP2A GRHL3
36 cerebral amyloid angiopathy, cst3-related 9.7
37 breast cancer 9.7
38 cerebral amyloid angiopathy, itm2b-related, 2 9.7
39 attention deficit-hyperactivity disorder 9.7
40 osteoporosis 9.7
41 pelvic organ prolapse 9.7
42 rheumatoid arthritis 9.7
43 autism 9.7
44 disorganization, mouse, homolog of 9.7
45 aging 9.7
46 ventricular fibrillation, paroxysmal familial, 1 9.7
47 cervical cancer 9.7
48 gastrointestinal stromal tumor 9.7
49 leukemia, chronic myeloid 9.7
50 ichthyosis prematurity syndrome 9.7

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



Diseases related to Popliteal Pterygium Syndrome

Symptoms & Phenotypes for Popliteal Pterygium Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Popliteal Pterygium Syndrome:

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0006101
2 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
3 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
4 abnormality of the nail 59 32 frequent (33%) Frequent (79-30%) HP:0001597
5 cleft palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000175
6 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
7 generalized hirsutism 59 32 hallmark (90%) Very frequent (99-80%) HP:0002230
8 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
9 specific learning disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001328
10 non-midline cleft lip 59 32 frequent (33%) Frequent (79-30%) HP:0100335
11 choanal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000453
12 thin upper lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000219
13 abnormality of the ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000772
14 split hand 59 32 occasional (7.5%) Occasional (29-5%) HP:0001171
15 ambiguous genitalia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000062
16 bifid scrotum 59 32 frequent (33%) Frequent (79-30%) HP:0000048
17 toe syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001770
18 ankyloblepharon 59 32 frequent (33%) Frequent (79-30%) HP:0009755
19 scrotal hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000046
20 hypoplastic labia majora 59 32 frequent (33%) Frequent (79-30%) HP:0000059
21 lip pit 59 32 frequent (33%) Frequent (79-30%) HP:0100267
22 nonketotic hyperglycinemia 59 32 frequent (33%) Frequent (79-30%) HP:0008288
23 fibrous syngnathia 59 32 frequent (33%) Frequent (79-30%) HP:0009754
24 popliteal pterygium 59 32 frequent (33%) Frequent (79-30%) HP:0009756
25 talipes equinovarus 32 HP:0001762
26 dementia 32 HP:0000726
27 spina bifida occulta 32 HP:0003298
28 cutaneous finger syndactyly 32 HP:0010554
29 cleft upper lip 32 HP:0000204
30 hypoplasia of the uterus 32 HP:0000013
31 lower lip pit 32 HP:0000196
32 hypoplasia of the vagina 32 HP:0008726
33 intercrural pterygium 32 HP:0009757
34 pyramidal skinfold extending from the base to the top of the nails 32 HP:0009758

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

26 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.68 IRF6
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.68 CHUK
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.68 IRF6
4 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.68 CHUK
5 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.68 TFAP2A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.68 TFAP2A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.68 IRF6 TFAP2A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.68 IRF6
9 Increased shRNA abundance (Z-score > 2) GR00366-A-182 9.68 TFAP2A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.68 TFAP2A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.68 TFAP2A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.68 CHUK
13 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.68 CHUK IRF6 TFAP2A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.68 CHUK
15 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.68 TFAP2A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.68 IRF6
17 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.68 CHUK
18 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.68 CHUK
19 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.68 CHUK
20 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.68 TFAP2A
21 Decreased substrate adherent cell growth GR00193-A-2 9.43 CHUK RIPK4
22 Decreased substrate adherent cell growth GR00193-A-3 9.43 RIPK4
23 Downregulation of NF-kappaB pathway after LMP1 stimulation GR00199-A-1 9.16 CHUK RIPK4
24 Downregulation of NF-kappaB pathway after TNFalpha stimulation GR00199-A-2 8.96 CHUK RIPK4

MGI Mouse Phenotypes related to Popliteal Pterygium Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.88 CHUK GRHL3 IRF6 RIPK4 TFAP2A
2 craniofacial MP:0005382 9.85 CHUK GRHL3 IRF6 RIPK4 TFAP2A
3 digestive/alimentary MP:0005381 9.83 CHUK GRHL3 IRF6 RIPK4 TFAP2A
4 growth/size/body region MP:0005378 9.77 CHUK GRHL3 IRF6 RIPK4 TFAP2A
5 embryo MP:0005380 9.71 CHUK GRHL3 IRF6 TFAP2A
6 integument MP:0010771 9.65 CHUK GRHL3 IRF6 RIPK4 TFAP2A
7 limbs/digits/tail MP:0005371 9.55 CHUK GRHL3 IRF6 RIPK4 TFAP2A
8 hearing/vestibular/ear MP:0005377 9.5 CHUK IRF6 TFAP2A
9 mortality/aging MP:0010768 9.35 CHUK GRHL3 IRF6 RIPK4 TFAP2A
10 skeleton MP:0005390 8.92 CHUK GRHL3 IRF6 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 29 IRF6
2 Popliteal Pterygium 29

Anatomical Context for Popliteal Pterygium Syndrome

MalaCards organs/tissues related to Popliteal Pterygium Syndrome:

41
Skin, Uterus, Testes, Eye, Brain, Kidney, Myeloid

Publications for Popliteal Pterygium Syndrome

Articles related to Popliteal Pterygium Syndrome:

(show top 50) (show all 751)
# Title Authors Year
1
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
2
Popliteal pterygium syndrome: A rare syndrome. ( 30505101 )
2018
3
Use of ECDC PPS HAI&AU data to evaluate adherence to national guidelines for antimicrobial treatment of community-­acquired pneumonia ( 29465065 )
2018
4
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
5
Fabrication of a PPS Microporous Membrane for Efficient Water-in-Oil Emulsion Separation. ( 30125115 )
2018
6
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
7
Popliteal Pterygium Syndrome With Syngnathia. ( 28468208 )
2017
8
PPS Annual meeting Lund, Sweden 2016. ( 28727972 )
2017
9
Carriage of Mediterranean Fever (MEFV) Mutations in Patients with Postpericardiotomy Syndrome (PPS). ( 28971640 )
2017
10
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
11
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
12
Effect of fiber-matrix adhesion on the creep behavior of CF/PPS composites: temperature and physical aging characterization. ( 30197569 )
2016
13
Symptomatic Accessory Medial Meniscus Associated With Popliteal Pterygium Syndrome. ( 25992493 )
2015
14
A Japanese family with popliteal pterygium syndrome. ( 27252970 )
2015
15
PPS proposed rule: A re-mix of the case-mix--or take them out of the recipe. ( 26596092 )
2015
16
Secondary nerve lengthening to obtain full knee extension in popliteal pterygium syndrome. ( 24683134 )
2014
17
Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa. ( 24936515 )
2014
18
Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report. ( 25547932 )
2014
19
Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome. ( 25388409 )
2014
20
Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability. ( 25548624 )
2014
21
PPS: A computing engine to find Palindromes in all Protein sequences. ( 24516327 )
2014
22
Guidance for research-practice partnerships (R-PPs) and collaborative research. ( 24783669 )
2014
23
Recessive loci Pps-1 and OM differentially regulate PISTILLATA-1 and APETALA3-1 expression for sepal and petal development in Papaver somniferum. ( 24979593 )
2014
24
Reflections on the introduction of the Palliative Performance Scale (PPS) to NHS Grampian: 5 years on. ( 25062382 )
2014
25
Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases. ( 23154523 )
2013
26
Novel NaCS-CS-PPS microcapsules as a potential enzyme-triggered release carrier for highly-loading 5-ASA. ( 23640018 )
2013
27
The fabrication, nano/micro-structure, heat- and wear-resistance of the superhydrophobic PPS/PTFE composite coatings. ( 23642807 )
2013
28
New regulations for Medicare's inpatient PPS introduce another reduction program. ( 23988593 )
2013
29
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
30
Popliteal pterygium syndrome: a rare entity. ( 22953299 )
2012
31
Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome. ( 22197489 )
2012
32
Reliability and validity of the Thai translation (Thai PPS Adult Suandok) of the Palliative Performance Scale (PPSv2). ( 21993805 )
2012
33
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
34
Role of rice PPS in late vegetative and reproductive growth. ( 22301968 )
2012
35
Medicare pilot program on bundled payments to health care providers could be the next PPS for dialysis. ( 22439371 )
2012
36
Comments on Dr. Matos, et al.'s article (pps. 255-260) in CRANIO october 2011 issue. ( 22606851 )
2012
37
DRG/PPS and DPC/PDPS as Prospective Payment Systems. ( 25237234 )
2012
38
Popliteal pterygium syndrome: orofacial and general features. ( 22016320 )
2011
39
PPS nanoparticles as versatile delivery system to induce systemic and broad mucosal immunity after intranasal administration. ( 21094269 )
2011
40
The COP1 ortholog PPS regulates the juvenile-adult and vegetative-reproductive phase changes in rice. ( 21705640 )
2011
41
CMS drops proposed payment reduction for 2012 inpatient PPS. ( 21880872 )
2011
42
PEG-b-PPS-b-PEI micelles and PEG-b-PPS/PEG-b-PPS-b-PEI mixed micelles as non-viral vectors for plasmid DNA: tumor immunotoxicity in B16F10 melanoma. ( 21924769 )
2011
43
Dr. Giuseppe Perinetti comments on Dr. Nozomi Maeda, et al.'s article (pps. 194-203) in CRANIO's July, 2011 issue. ( 22128663 )
2011
44
Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome. ( 20803643 )
2010
45
Popliteal pterygium syndrome. ( 21124670 )
2010
46
The Advanced Bionics High Resolution Mode: stimulation rates up to 5000 pps. ( 19479460 )
2010
47
Effect of pps disruption and constitutive expression of srfA on surfactin productivity, spreading and antagonistic properties of Bacillus subtilis 168 derivatives. ( 20148996 )
2010
48
PPS, a large multidomain protein, functions with sex-lethal to regulate alternative splicing in Drosophila. ( 20221253 )
2010
49
Preliminary investigation on the reduction of plantar loading pressure with different insole materials (SRP--Slow Recovery Poron, P--Poron, PPF--Poron +Plastazote, firm and PPS--Poron+Plastazote, soft). ( 20434673 )
2010
50
PPS discontent. Proposed outpatient payments upset ASCs, hospitals. ( 20669376 )
2010

Variations for Popliteal Pterygium Syndrome

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

75
# 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 290)
# 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.1016G> T (p.Arg339Ile) single nucleotide variant Pathogenic rs121434231 GRCh37 Chromosome 1, 209963884: 209963884
8 IRF6 NM_006147.3(IRF6): c.1016G> T (p.Arg339Ile) single nucleotide variant Pathogenic rs121434231 GRCh38 Chromosome 1, 209790539: 209790539
9 IRF6 NM_006147.3(IRF6): c.65T> C (p.Leu22Pro) single nucleotide variant Pathogenic rs387906967 GRCh37 Chromosome 1, 209974694: 209974694
10 IRF6 NM_006147.3(IRF6): c.65T> C (p.Leu22Pro) single nucleotide variant Pathogenic rs387906967 GRCh38 Chromosome 1, 209801349: 209801349
11 IRF6 NM_006147.3(IRF6): c.251G> T (p.Arg84Leu) single nucleotide variant Pathogenic rs121434227 GRCh37 Chromosome 1, 209969821: 209969821
12 IRF6 NM_006147.3(IRF6): c.251G> T (p.Arg84Leu) single nucleotide variant Pathogenic rs121434227 GRCh38 Chromosome 1, 209796476: 209796476
13 IRF6 NM_006147.3(IRF6): c.1271C> T (p.Ser424Leu) single nucleotide variant Pathogenic rs387906968 GRCh37 Chromosome 1, 209961898: 209961898
14 IRF6 NM_006147.3(IRF6): c.1271C> T (p.Ser424Leu) single nucleotide variant Pathogenic rs387906968 GRCh38 Chromosome 1, 209788553: 209788553
15 RIPK4 NM_020639.2(RIPK4): c.1884C> T (p.Ser628=) single nucleotide variant Uncertain significance rs55812846 GRCh37 Chromosome 21, 43161469: 43161469
16 RIPK4 NM_020639.2(RIPK4): c.1884C> T (p.Ser628=) single nucleotide variant Uncertain significance rs55812846 GRCh38 Chromosome 21, 41741309: 41741309
17 IRF6 NM_006147.3(IRF6): c.1210G> A (p.Glu404Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs769068305 GRCh37 Chromosome 1, 209961959: 209961959
18 IRF6 NM_006147.3(IRF6): c.1210G> A (p.Glu404Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs769068305 GRCh38 Chromosome 1, 209788614: 209788614
19 IRF6 NM_006147.3(IRF6): c.1316T> C (p.Leu439Pro) single nucleotide variant Pathogenic rs886038202 GRCh38 Chromosome 1, 209788508: 209788508
20 IRF6 NM_006147.3(IRF6): c.1316T> C (p.Leu439Pro) single nucleotide variant Pathogenic rs886038202 GRCh37 Chromosome 1, 209961853: 209961853
21 IRF6 NM_006147.3(IRF6): c.1153T> C (p.Leu385=) single nucleotide variant Benign rs61099902 GRCh37 Chromosome 1, 209963038: 209963038
22 IRF6 NM_006147.3(IRF6): c.1153T> C (p.Leu385=) single nucleotide variant Benign rs61099902 GRCh38 Chromosome 1, 209789693: 209789693
23 IRF6 NM_006147.3(IRF6): c.820G> A (p.Val274Ile) single nucleotide variant Benign rs2235371 GRCh37 Chromosome 1, 209964080: 209964080
24 IRF6 NM_006147.3(IRF6): c.820G> A (p.Val274Ile) single nucleotide variant Benign rs2235371 GRCh38 Chromosome 1, 209790735: 209790735
25 IRF6 NM_006147.3(IRF6): c.759T> C (p.Tyr253=) single nucleotide variant Likely benign rs41303263 GRCh37 Chromosome 1, 209964141: 209964141
26 IRF6 NM_006147.3(IRF6): c.759T> C (p.Tyr253=) single nucleotide variant Likely benign rs41303263 GRCh38 Chromosome 1, 209790796: 209790796
27 IRF6 NM_006147.3(IRF6): c.459G> T (p.Ser153=) single nucleotide variant Benign rs2013162 GRCh37 Chromosome 1, 209968684: 209968684
28 IRF6 NM_006147.3(IRF6): c.459G> T (p.Ser153=) single nucleotide variant Benign rs2013162 GRCh38 Chromosome 1, 209795339: 209795339
29 RIPK4 NM_020639.2(RIPK4): c.2331G> A (p.Thr777=) single nucleotide variant Benign rs7276592 GRCh37 Chromosome 21, 43161022: 43161022
30 RIPK4 NM_020639.2(RIPK4): c.2331G> A (p.Thr777=) single nucleotide variant Benign rs7276592 GRCh38 Chromosome 21, 41740862: 41740862
31 RIPK4 NM_020639.2(RIPK4): c.1996A> G (p.Met666Val) single nucleotide variant Benign rs3746891 GRCh38 Chromosome 21, 41741197: 41741197
32 RIPK4 NM_020639.2(RIPK4): c.1996A> G (p.Met666Val) single nucleotide variant Benign rs3746891 GRCh37 Chromosome 21, 43161357: 43161357
33 RIPK4 NM_020639.2(RIPK4): c.1548C> T (p.Asp516=) single nucleotide variant Benign rs2838113 GRCh37 Chromosome 21, 43161805: 43161805
34 RIPK4 NM_020639.2(RIPK4): c.1548C> T (p.Asp516=) single nucleotide variant Benign rs2838113 GRCh38 Chromosome 21, 41741645: 41741645
35 RIPK4 NM_020639.2(RIPK4): c.1476G> A (p.Ala492=) single nucleotide variant Benign rs3746893 GRCh37 Chromosome 21, 43161877: 43161877
36 RIPK4 NM_020639.2(RIPK4): c.1476G> A (p.Ala492=) single nucleotide variant Benign rs3746893 GRCh38 Chromosome 21, 41741717: 41741717
37 RIPK4 NM_020639.2(RIPK4): c.1203C> T (p.Gly401=) single nucleotide variant Benign rs3746894 GRCh38 Chromosome 21, 41741990: 41741990
38 RIPK4 NM_020639.2(RIPK4): c.1203C> T (p.Gly401=) single nucleotide variant Benign rs3746894 GRCh37 Chromosome 21, 43162150: 43162150
39 RIPK4 NM_020639.2(RIPK4): c.1005G> T (p.Leu335=) single nucleotide variant Benign rs2277789 GRCh37 Chromosome 21, 43164232: 43164232
40 RIPK4 NM_020639.2(RIPK4): c.1005G> T (p.Leu335=) single nucleotide variant Benign rs2277789 GRCh38 Chromosome 21, 41744072: 41744072
41 IRF6 NM_006147.3(IRF6): c.226C> T (p.Pro76Ser) single nucleotide variant Pathogenic rs886039388 GRCh37 Chromosome 1, 209969846: 209969846
42 IRF6 NM_006147.3(IRF6): c.226C> T (p.Pro76Ser) single nucleotide variant Pathogenic rs886039388 GRCh38 Chromosome 1, 209796501: 209796501
43 IRF6 NM_006147.3(IRF6): c.*2472G> A single nucleotide variant Likely benign rs188593210 GRCh38 Chromosome 1, 209785948: 209785948
44 IRF6 NM_006147.3(IRF6): c.*2472G> A single nucleotide variant Likely benign rs188593210 GRCh37 Chromosome 1, 209959293: 209959293
45 IRF6 NM_006147.3(IRF6): c.*1678delT deletion Benign rs141112353 GRCh37 Chromosome 1, 209960087: 209960087
46 IRF6 NM_006147.3(IRF6): c.*1678delT deletion Benign rs141112353 GRCh38 Chromosome 1, 209786742: 209786742
47 IRF6 NM_006147.3(IRF6): c.*1473C> G single nucleotide variant Likely benign rs531092939 GRCh37 Chromosome 1, 209960292: 209960292
48 IRF6 NM_006147.3(IRF6): c.*1473C> G single nucleotide variant Likely benign rs531092939 GRCh38 Chromosome 1, 209786947: 209786947
49 IRF6 NM_006147.3(IRF6): c.*1265G> C single nucleotide variant Likely benign rs149425923 GRCh37 Chromosome 1, 209960500: 209960500
50 IRF6 NM_006147.3(IRF6): c.*1265G> C single nucleotide variant Likely benign rs149425923 GRCh38 Chromosome 1, 209787155: 209787155

Expression for Popliteal Pterygium Syndrome

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

Pathways for Popliteal Pterygium Syndrome

Pathways related to Popliteal Pterygium Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.65 CHUK IRF6 RIPK4
2 9.53 IRF6 TFAP2A

GO Terms for Popliteal Pterygium Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.46 CHUK GRHL3 IRF6 TFAP2A
2 transcription by RNA polymerase II GO:0006366 9.43 GRHL3 IRF6 TFAP2A
3 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.32 CHUK RIPK4
4 eyelid development in camera-type eye GO:0061029 8.96 GRHL3 TFAP2A
5 positive regulation of transcription, DNA-templated GO:0045893 8.92 CHUK GRHL3 IRF6 TFAP2A

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.16 GRHL3 IRF6
2 DNA-binding transcription factor activity GO:0003700 9.13 GRHL3 IRF6 TFAP2A
3 sequence-specific DNA binding GO:0043565 8.8 GRHL3 IRF6 TFAP2A

Sources for Popliteal Pterygium Syndrome

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