PPS
MCID: PPL025
MIFTS: 54

Popliteal Pterygium Syndrome (PPS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Popliteal Pterygium Syndrome

MalaCards integrated aliases for Popliteal Pterygium Syndrome:

Name: Popliteal Pterygium Syndrome 57 12 73 20 43 58 72 36 29 54 6 44 15 39 70
Pps 57 20 43 72
Facio-Genito-Popliteal Syndrome 12 43 58
Faciogenitopopliteal Syndrome 57 20 72
Popliteal Web Syndrome 12 58 70
Cleft Lip/palate, Paramedian Mucous Cysts of the Lower Lip, Popliteal Pterygium, Digital and Genital Anomalies 57 72
Autosomal Dominant Popliteal Pterygium Syndrome 58 6
Popliteal Pterygium Syndrome 1 57 13
Cleft Lip/palate Paramedian Mucous Cysts of the Lower Lip Popliteal Pterygium Digital and Genital Anomalies 20
Popliteal Pterygium 29

Characteristics:

Orphanet epidemiological data:

58
popliteal pterygium syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;
autosomal dominant popliteal pterygium syndrome
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
clinical variability
incidence of 1 in 300,000


HPO:

31
popliteal pterygium syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Popliteal Pterygium Syndrome

MedlinePlus Genetics : 43 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.Individuals with popliteal pterygium syndrome may be born with webs of skin on the backs of the legs across the knee joint, which may impair mobility unless surgically removed. Affected individuals may also have webbing or fusion of the fingers or toes (syndactyly), characteristic triangular folds of skin over the nails of the large toes, or tissue connecting the upper and lower eyelids or the upper and lower jaws. They may have abnormal genitals, including unusually small external genital folds (hypoplasia of the labia majora) in females. Affected males may have undescended testes (cryptorchidism) or a scrotum divided into two lobes (bifid scrotum).People with popliteal pterygium syndrome who have cleft lip and/or palate, like other individuals with these facial conditions, may have an increased risk of delayed language development, learning disabilities, or other mild cognitive problems. The average IQ of individuals with popliteal pterygium syndrome is not significantly different from that of the general population.

MalaCards based summary : Popliteal Pterygium Syndrome, also known as pps, is related to bartsocas-papas syndrome and syngnathia. An important gene associated with Popliteal Pterygium Syndrome is IRF6 (Interferon Regulatory Factor 6), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Hypothetical Craniofacial Development Pathway. Affiliated tissues include eye, uterus and testes, and related phenotypes are joint stiffness and cleft palate

Disease Ontology : 12 A syndrome 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.

GARD : 20 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.

OMIM® : 57 Popliteal pterygium syndrome (PPS) is an autosomal dominant disorder with diverse clinical features including orofacial anomalies such as lower lip pits, cleft lip and/or palate, and syngnathia, and skin and genital abnormalities including webbing of the lower limbs, syndactyly, hypoplasia of the labia majora, and bifid or absent scrotum (summary by Matsuzawa et al., 2010). (119500) (Updated 20-May-2021)

KEGG : 36 Popliteal pterygium syndrome (PPS) is an autosomal dominant orofacial cleft syndrome caused by IRF6 mutations. Clinical manifestations of PPS include cleft lip and/or palate in association with webcausing popliteal connective tissue, syndactyly, and genital abnormalities.

UniProtKB/Swiss-Prot : 72 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 : 73 Popliteal pterygium syndrome (PPS) is an inherited condition affecting the face, limbs, and genitalia.... more...

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 97)
# Related Disease Score Top Affiliating Genes
1 bartsocas-papas syndrome 33.4 RIPK4 IRF6
2 syngnathia 30.8 MSX1 IRF6
3 chromosome 2q35 duplication syndrome 30.7 NECTIN1 MSX1 IRF6
4 van der woude syndrome 2 30.3 GRHL3 CFAP57
5 cleft lip/palate 29.7 TBX22 NECTIN1 MSX1 IRF6 FOXE1 ARHGAP29
6 choanal atresia, posterior 29.7 TBX22 FOXE1
7 cleft lip 29.4 VAX1 TGFB3 TFAP2A NECTIN1 MSX1 IRF6
8 van der woude syndrome 1 29.2 VAX1 TGFB3 TFAP2A TBX22 RIPK4 NECTIN1
9 fetal encasement syndrome 28.8 SHD SFN RIPK4 OVOL1 KDF1 IRF6
10 cleft palate, isolated 28.2 VAX1 TGFB3 TFAP2A TBX22 NECTIN1 MSX1
11 orofacial cleft 27.6 VAX1 TGFB3 TFAP2A TBX22 NECTIN1 MSX1
12 postpoliomyelitis syndrome 11.4
13 irf6-related disorders 11.3
14 spondylohypoplasia, arthrogryposis and popliteal pterygium 11.3
15 parkinson disease 15, autosomal recessive early-onset 11.0
16 orofacial cleft 6 10.5
17 orofacial clefting syndrome 10.2
18 ankyloblepharon-ectodermal defects-cleft lip/palate 10.1 RIPK4 IRF6 GRHL3
19 ankyloglossia with or without tooth anomalies 10.1 TBX22 MSX1 IRF6
20 viral infectious disease 10.1
21 congenital amyoplasia 10.1
22 cleft lip and alveolus 10.1 NECTIN1 MSX1 IRF6
23 kaposi sarcoma 10.0
24 hypertelorism 10.0
25 helix syndrome 10.0
26 arthropathy 10.0
27 overgrowth syndrome 10.0
28 cleft palate with or without ankyloglossia, x-linked 10.0 TBX22 MSX1
29 stickler syndrome 10.0 TBX22 MSX1 IRF6
30 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.0 NECTIN1 MSX1 CHUK
31 contractural arachnodactyly, congenital 10.0
32 marfan syndrome 10.0
33 otitis media 10.0
34 sensorineural hearing loss 10.0
35 amelia 10.0
36 amelia of upper limb 10.0
37 neonatal marfan syndrome 10.0
38 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
39 peters-plus syndrome 9.9
40 acute cystitis 9.9
41 substance abuse 9.9
42 rhabdomyosarcoma 9.9
43 adrenal carcinoma 9.9
44 ectodermal dysplasia 9.9 NECTIN1 MSX1 KDF1 CHUK
45 cleft soft palate 9.8 VAX1 TBX22 IRF6 GRHL3
46 amyotrophic lateral sclerosis 1 9.8
47 atherosclerosis susceptibility 9.8
48 bladder cancer 9.8
49 exudative vitreoretinopathy 1 9.8
50 ovarian cancer 9.8

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:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
2 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
3 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
4 thin upper lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000219
5 generalized hirsutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0002230
6 toe syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001770
7 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
8 abnormality of the nail 58 31 frequent (33%) Frequent (79-30%) HP:0001597
9 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
10 bifid scrotum 58 31 frequent (33%) Frequent (79-30%) HP:0000048
11 abnormality of the ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000772
12 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
13 scrotal hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000046
14 hypoplastic labia majora 58 31 frequent (33%) Frequent (79-30%) HP:0000059
15 ankyloblepharon 58 31 frequent (33%) Frequent (79-30%) HP:0009755
16 non-midline cleft lip 58 31 frequent (33%) Frequent (79-30%) HP:0100335
17 lip pit 58 31 frequent (33%) Frequent (79-30%) HP:0100267
18 popliteal pterygium 58 31 frequent (33%) Frequent (79-30%) HP:0009756
19 nonketotic hyperglycinemia 58 31 frequent (33%) Frequent (79-30%) HP:0008288
20 fibrous syngnathia 58 31 frequent (33%) Frequent (79-30%) HP:0009754
21 specific learning disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001328
22 choanal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000453
23 split hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0001171
24 ambiguous genitalia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000062
25 talipes equinovarus 31 HP:0001762
26 cleft upper lip 31 HP:0000204
27 spina bifida occulta 31 HP:0003298
28 cutaneous finger syndactyly 31 HP:0010554
29 dementia 31 HP:0000726
30 hypoplasia of the uterus 31 HP:0000013
31 lower lip pit 31 HP:0000196
32 hypoplasia of the vagina 31 HP:0008726
33 intercrural pterygium 31 HP:0009757
34 pyramidal skinfold extending from the base to the top of the nails 31 HP:0009758

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Mouth:
cleft palate
cleft lip
lower lip pits
lower lip cysts
syngnathia

Skeletal Feet:
talipes equinovarus

Skeletal Spine:
spina bifida occulta

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

Genitourinary External Genitalia Male:
bifid scrotum
hypoplastic scrotum

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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Popliteal Pterygium Syndrome:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.34 ARHGAP29 CHUK FOXE1 GRHL3 IRF6 KDF1
2 growth/size/body region MP:0005378 10.31 ARHGAP29 CHUK FOXE1 GRHL3 IRF6 KDF1
3 digestive/alimentary MP:0005381 10.29 ARHGAP29 CHUK FOXE1 GRHL3 IRF6 KDF1
4 cellular MP:0005384 10.25 CHUK GRHL3 IRF6 KDF1 OVOL1 RIPK4
5 mortality/aging MP:0010768 10.13 ARHGAP29 CHUK FOXE1 GRHL3 IRF6 KDF1
6 integument MP:0010771 10.11 CHUK FOXE1 GRHL3 IRF6 KDF1 MSX1
7 embryo MP:0005380 10.06 ARHGAP29 CHUK GRHL3 IRF6 MSX1 SFN
8 limbs/digits/tail MP:0005371 9.97 CHUK GRHL3 IRF6 KDF1 MSX1 RIPK4
9 hearing/vestibular/ear MP:0005377 9.95 ARHGAP29 CHUK IRF6 KDF1 MSX1 SFN
10 respiratory system MP:0005388 9.76 CHUK KDF1 MSX1 RIPK4 SFN TBX22
11 skeleton MP:0005390 9.65 CHUK GRHL3 IRF6 MSX1 NECTIN1 SFN
12 vision/eye MP:0005391 9.23 CHUK GRHL3 MSX1 NECTIN1 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 29 IRF6
2 Popliteal Pterygium 29

Anatomical Context for Popliteal Pterygium Syndrome

MalaCards organs/tissues related to Popliteal Pterygium Syndrome:

40
Eye, Uterus, Testes, Pancreas, Kidney, Heart

Publications for Popliteal Pterygium Syndrome

Articles related to Popliteal Pterygium Syndrome:

(show top 50) (show all 136)
# Title Authors PMID Year
1
A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia. 57 6 61 54
18478600 2008
2
Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene. 57 6 61 54
14757865 2004
3
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. 54 6 61 57
12219090 2002
4
Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders. 61 6 57
25691407 2015
5
Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome. 6 57 61
20803643 2010
6
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome. 6 61 54
19282774 2009
7
Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6. 61 54 6
19036739 2009
8
A familial case of popliteal pterygium syndrome. 54 61 6
18617879 2008
9
Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome. 54 6 61
16160700 2005
10
Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report. 61 6
25547932 2014
11
Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability. 6 61
25548624 2014
12
Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate. 61 6
23394314 2014
13
Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases. 61 6
23154523 2013
14
Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling. 6 61
19623037 2009
15
Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32. 61 57
10593995 1999
16
Variable expression of the popliteal pterygium syndrome in two 3-generation families. 57 61
7628117 1995
17
The popliteal pterygium syndrome: report of a new family and review of the literature. 61 57
2164325 1990
18
Popliteal pterygium syndrome. 57 61
2352260 1990
19
A family with the popliteal pterygium syndrome. 61 57
6928117 1980
20
Popliteal pterygium syndrome: report of a family. 61 57
830904 1977
21
Phenotypic variation in the popliteal pterygium syndrome. 57 61
4203060 1973
22
[Popliteal pterygium syndrome]. 57 61
5493566 1970
23
[The popliteal pterygium syndrome. A dominant autosomal malformation syndrome]. 61 57
4325529 1970
24
Popliteal pterygium syndrome . A syndrome comprising cleft lip-palate, popliteal and intercrural pterygia, digital and genital anomalies. 57 61
4384166 1968
25
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders. 6
29453417 2018
26
Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing. 6
27834299 2017
27
Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions. 6
25784454 2015
28
EEC syndrome-like phenotype in a patient with an IRF6 mutation. 6
22488974 2012
29
Novel IRF6 mutations in Honduran Van der Woude syndrome patients. 6
21468557 2011
30
Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan. 6
20184620 2010
31
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign. 6
21045959 2010
32
Three novel mutations of the IRF6 gene with one associated with an unusual feature in Van der Woude syndrome. 6
19842205 2009
33
Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done? 6
19449419 2009
34
Novel IRF6 mutations in Chinese patients with Van der Woude syndrome. 6
16998136 2006
35
Identification of novel mutations of IRF6 gene in Chinese families with Van der Woude syndrome. 6
16211254 2005
36
Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome. 6
15472655 2004
37
Congenital sinuses of the lower lip in connection with cleft lip and palate. 57
5266345 1970
38
Heritable dysmorphic syndrome with normal intelligence. 57
6026118 1967
39
[An observed case: a curious hereditary syndrome cheilopalatoschisis with fistulas of the lower lip so associated with syndactyly, a peculiar onychoplasia, unilateral popliteal pterygium and pes varus equinus]. 57
14041701 1962
40
Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch. 61 54
17041603 2006
41
Genomic, cDNA and embryonic expression analysis of zebrafish IRF6, the gene mutated in the human oral clefting disorders Van der Woude and popliteal pterygium syndromes. 54 61
15939375 2005
42
Novel mutations in the IRF6 gene for Van der Woude syndrome. 61 54
12920575 2003
43
Bartsocas-Papas syndrome: The first case report of severe autosomal recessive form from Indonesia. 61
33529824 2021
44
Popliteal pterygium syndrome and surgical approach in a preterm neonate. 61
32725677 2020
45
Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome. 61
32558391 2020
46
Management of severe congenital flexion deformity of the knee using Ilizarov method. 61
30807513 2020
47
Hemiscrotal agenesis with complete testicular descent in Van der Woude syndrome: a new phenotypic feature. 61
31488442 2019
48
Periderm: Life-cycle and function during orofacial and epidermal development. 61
28803895 2019
49
IRF6 and AP2A Interaction Regulates Epidermal Development. 61
29913133 2018
50
Van der Woude and Popliteal Pterygium Syndromes. 61
29916977 2018

Variations for Popliteal Pterygium Syndrome

ClinVar genetic disease variations for Popliteal Pterygium Syndrome:

6 (show top 50) (show all 72)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IRF6 NM_006147.4(IRF6):c.1177C>T (p.Gln393Ter) SNV Pathogenic 3413 rs121434225 GRCh37: 1:209963014-209963014
GRCh38: 1:209789669-209789669
2 IRF6 NM_006147.4(IRF6):c.250C>T (p.Arg84Cys) SNV Pathogenic 3414 rs121434226 GRCh37: 1:209969822-209969822
GRCh38: 1:209796477-209796477
3 IRF6 NM_006147.4(IRF6):c.251G>A (p.Arg84His) SNV Pathogenic 3415 rs121434227 GRCh37: 1:209969821-209969821
GRCh38: 1:209796476-209796476
4 IRF6 NM_006147.4(IRF6):c.1016G>T (p.Arg339Ile) SNV Pathogenic 3423 rs121434231 GRCh37: 1:209963884-209963884
GRCh38: 1:209790539-209790539
5 IRF6 NM_006147.4(IRF6):c.65T>C (p.Leu22Pro) SNV Pathogenic 30652 rs387906967 GRCh37: 1:209974694-209974694
GRCh38: 1:209801349-209801349
6 IRF6 NM_006147.4(IRF6):c.251G>T (p.Arg84Leu) SNV Pathogenic 30653 rs121434227 GRCh37: 1:209969821-209969821
GRCh38: 1:209796476-209796476
7 IRF6 NM_006147.4(IRF6):c.1271C>T (p.Ser424Leu) SNV Pathogenic 30654 rs387906968 GRCh37: 1:209961898-209961898
GRCh38: 1:209788553-209788553
8 IRF6 NM_006147.4(IRF6):c.1316T>C (p.Leu439Pro) SNV Pathogenic 254674 rs886038202 GRCh37: 1:209961853-209961853
GRCh38: 1:209788508-209788508
9 IRF6 NM_006147.4(IRF6):c.749G>A (p.Arg250Gln) SNV Pathogenic 458684 rs1553247774 GRCh37: 1:209964151-209964151
GRCh38: 1:209790806-209790806
10 IRF6 NM_006147.4(IRF6):c.226C>T (p.Pro76Ser) SNV Pathogenic 265196 rs886039388 GRCh37: 1:209969846-209969846
GRCh38: 1:209796501-209796501
11 IRF6 NM_006147.4(IRF6):c.1234C>T (p.Arg412Ter) SNV Pathogenic 458682 rs1553247595 GRCh37: 1:209961935-209961935
GRCh38: 1:209788590-209788590
12 IRF6 NM_006147.4(IRF6):c.250C>T (p.Arg84Cys) SNV Pathogenic 3414 rs121434226 GRCh37: 1:209969822-209969822
GRCh38: 1:209796477-209796477
13 IRF6 NM_006147.4(IRF6):c.1314_1324del (p.Gln438fs) Deletion Pathogenic 583293 rs1558038218 GRCh37: 1:209961845-209961855
GRCh38: 1:209788500-209788510
14 IRF6 NM_006147.4(IRF6):c.16C>T (p.Arg6Cys) SNV Pathogenic 3417 rs28942094 GRCh37: 1:209974743-209974743
GRCh38: 1:209801398-209801398
15 IRF6 NM_006147.4(IRF6):c.133del (p.Arg45fs) Deletion Pathogenic 659301 rs1571986293 GRCh37: 1:209974626-209974626
GRCh38: 1:209801281-209801281
16 IRF6 NM_006147.4(IRF6):c.145C>T (p.Gln49Ter) SNV Pathogenic 40077 rs397515434 GRCh37: 1:209974614-209974614
GRCh38: 1:209801269-209801269
17 IRF6 NM_006147.4(IRF6):c.251G>A (p.Arg84His) SNV Pathogenic 3415 rs121434227 GRCh37: 1:209969821-209969821
GRCh38: 1:209796476-209796476
18 IRF6 NM_006147.4(IRF6):c.180G>A (p.Trp60Ter) SNV Pathogenic 843190 GRCh37: 1:209969892-209969892
GRCh38: 1:209796547-209796547
19 IRF6 NM_006147.4(IRF6):c.989C>A (p.Ser330Ter) SNV Pathogenic 844327 GRCh37: 1:209963911-209963911
GRCh38: 1:209790566-209790566
20 IRF6 NM_006147.4(IRF6):c.179G>A (p.Trp60Ter) SNV Pathogenic 851809 GRCh37: 1:209969893-209969893
GRCh38: 1:209796548-209796548
21 IRF6 NM_006147.4(IRF6):c.1198C>T (p.Arg400Trp) SNV Pathogenic 3419 rs28942095 GRCh37: 1:209961971-209961971
GRCh38: 1:209788626-209788626
22 IRF6 NM_006147.4(IRF6):c.622C>T (p.Gln208Ter) SNV Pathogenic 938570 GRCh37: 1:209965659-209965659
GRCh38: 1:209792314-209792314
23 IRF6 NM_006147.4(IRF6):c.108_109delinsG (p.Phe36fs) Indel Pathogenic 972274 GRCh37: 1:209974650-209974651
GRCh38: 1:209801305-209801306
24 IRF6 NM_006147.4(IRF6):c.1121G>A (p.Cys374Tyr) SNV Likely pathogenic 849913 GRCh37: 1:209963070-209963070
GRCh38: 1:209789725-209789725
25 IRF6 NM_006147.4(IRF6):c.176C>T (p.Ala59Val) SNV Likely pathogenic 663350 rs1571983440 GRCh37: 1:209969896-209969896
GRCh38: 1:209796551-209796551
26 IRF6 NM_006147.4(IRF6):c.950G>A (p.Cys317Tyr) SNV Likely pathogenic 643611 rs1571979607 GRCh37: 1:209963950-209963950
GRCh38: 1:209790605-209790605
27 IRF6 NM_006147.4(IRF6):c.292G>C (p.Asp98His) SNV Likely pathogenic 650115 rs1571983348 GRCh37: 1:209969780-209969780
GRCh38: 1:209796435-209796435
28 IRF6 NM_006147.4(IRF6):c.25C>T (p.Arg9Trp) SNV Likely pathogenic 449039 rs1553248641 GRCh37: 1:209974734-209974734
GRCh38: 1:209801389-209801389
29 IRF6 NM_006147.4(IRF6):c.*803dup Duplication Uncertain significance 295192 rs886045881 GRCh37: 1:209960961-209960962
GRCh38: 1:209787616-209787617
30 IRF6 NM_006147.4(IRF6):c.665C>T (p.Pro222Leu) SNV Uncertain significance 644879 rs1571980623 GRCh37: 1:209965616-209965616
GRCh38: 1:209792271-209792271
31 IRF6 NM_006147.4(IRF6):c.174+2dup Duplication Uncertain significance 568248 rs1558042839 GRCh37: 1:209974582-209974583
GRCh38: 1:209801237-209801238
32 IRF6 NM_006147.4(IRF6):c.565G>A (p.Glu189Lys) SNV Uncertain significance 576768 rs1558039763 GRCh37: 1:209965716-209965716
GRCh38: 1:209792371-209792371
33 IRF6 NM_006147.4(IRF6):c.41_42delinsGT (p.Leu14Arg) Indel Uncertain significance 579346 rs1558042905 GRCh37: 1:209974717-209974718
GRCh38: 1:209801372-209801373
34 IRF6 NM_006147.4(IRF6):c.260T>C (p.Leu87Pro) SNV Uncertain significance 533110 rs1553248267 GRCh37: 1:209969812-209969812
GRCh38: 1:209796467-209796467
35 IRF6 NM_006147.4(IRF6):c.889G>A (p.Val297Ile) SNV Uncertain significance 533111 rs779827384 GRCh37: 1:209964011-209964011
GRCh38: 1:209790666-209790666
36 IRF6 NM_006147.4(IRF6):c.668-5T>G SNV Uncertain significance 533112 rs1553247787 GRCh37: 1:209964237-209964237
GRCh38: 1:209790892-209790892
37 IRF6 NM_006147.4(IRF6):c.264T>A (p.Asn88Lys) SNV Uncertain significance 533113 rs1553248265 GRCh37: 1:209969808-209969808
GRCh38: 1:209796463-209796463
38 IRF6 NM_006147.4(IRF6):c.1368del (p.Ser457fs) Deletion Uncertain significance 533114 rs1553247577 GRCh37: 1:209961801-209961801
GRCh38: 1:209788456-209788456
39 IRF6 NM_006147.4(IRF6):c.1210G>A (p.Glu404Lys) SNV Uncertain significance 217873 rs769068305 GRCh37: 1:209961959-209961959
GRCh38: 1:209788614-209788614
40 IRF6 NM_006147.4(IRF6):c.82T>G (p.Trp28Gly) SNV Uncertain significance 464464 rs1553248637 GRCh37: 1:209974677-209974677
GRCh38: 1:209801332-209801332
41 IRF6 NM_006147.4(IRF6):c.1268T>G (p.Ile423Ser) SNV Uncertain significance 464462 rs1553247592 GRCh37: 1:209961901-209961901
GRCh38: 1:209788556-209788556
42 IRF6 NM_006147.4(IRF6):c.*804_*805insT Insertion Uncertain significance 295191 rs886045880 GRCh37: 1:209960960-209960961
GRCh38: 1:209787615-209787616
43 IRF6 NM_006147.4(IRF6):c.964T>A (p.Tyr322Asn) SNV Uncertain significance 464465 rs1553247754 GRCh37: 1:209963936-209963936
GRCh38: 1:209790591-209790591
44 IRF6 NM_006147.4(IRF6):c.242C>A (p.Ala81Asp) SNV Uncertain significance 464463 rs1553248270 GRCh37: 1:209969830-209969830
GRCh38: 1:209796485-209796485
45 IRF6 NM_006147.4(IRF6):c.1055T>G (p.Leu352Arg) SNV Uncertain significance 464461 rs1553247744 GRCh37: 1:209963845-209963845
GRCh38: 1:209790500-209790500
46 IRF6 NM_006147.4(IRF6):c.*219_*220insCA Insertion Uncertain significance 295204 rs886045882 GRCh37: 1:209961545-209961546
GRCh38: 1:209788200-209788201
47 RIPK4 NM_020639.2(RIPK4):c.-44C>G SNV Uncertain significance 340039 rs774016517 GRCh37: 21:43187245-43187245
GRCh38: 21:41767085-41767085
48 RIPK4 NM_020639.3(RIPK4):c.*1039dup Duplication Uncertain significance 339989 rs886057083 GRCh37: 21:43159958-43159959
GRCh38: 21:41739798-41739799
49 IRF6 NM_006147.4(IRF6):c.1060G>A (p.Asp354Asn) SNV Uncertain significance 957538 GRCh37: 1:209963840-209963840
GRCh38: 1:209790495-209790495
50 IRF6 NM_006147.4(IRF6):c.52G>A (p.Val18Met) SNV Uncertain significance 959992 GRCh37: 1:209974707-209974707
GRCh38: 1:209801362-209801362

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

72
# 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

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 11.39 TGFB3 RIPK4 MSX1
2 9.83 TGFB3 TFAP2A IRF6 ARHGAP29

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 chromatin GO:0000785 9.17 VAX1 TFAP2A TBX22 MSX1 IRF6 GRHL3

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.01 TGFB3 TFAP2A MSX1 IRF6 GRHL3 CHUK
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.95 VAX1 TFAP2A TBX22 OVOL1 MSX1 FOXE1
3 regulation of transcription by RNA polymerase II GO:0006357 9.92 VAX1 TFAP2A TBX22 OVOL1 MSX1 IRF6
4 negative regulation of cell proliferation GO:0008285 9.86 TGFB3 TFAP2A MSX1 IRF6
5 positive regulation of transcription, DNA-templated GO:0045893 9.85 TGFB3 TFAP2A IRF6 GRHL3 FOXE1 CHUK
6 bone morphogenesis GO:0060349 9.58 TFAP2A MSX1
7 embryonic forelimb morphogenesis GO:0035115 9.57 TFAP2A MSX1
8 face morphogenesis GO:0060325 9.55 TGFB3 MSX1
9 negative regulation of keratinocyte proliferation GO:0010839 9.52 SFN KDF1
10 eyelid development in camera-type eye GO:0061029 9.51 TFAP2A GRHL3
11 cranial skeletal system development GO:1904888 9.49 IRF6 FOXE1
12 positive regulation of epidermal cell differentiation GO:0045606 9.46 SFN KDF1
13 keratinocyte development GO:0003334 9.43 SFN KDF1
14 skin development GO:0043588 9.43 SFN OVOL1 IRF6
15 negative regulation of stem cell proliferation GO:2000647 9.4 OVOL1 KDF1
16 regulation of epidermal cell division GO:0010482 9.16 SFN KDF1
17 establishment of skin barrier GO:0061436 9.13 SFN KDF1 GRHL3
18 roof of mouth development GO:0060021 9.02 VAX1 TFAP2A MSX1 IRF6 FOXE1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.3 VAX1 TGFB3 TFAP2A TBX22 SHD SFN
2 DNA binding GO:0003677 10.01 VAX1 TFAP2A TBX22 OVOL1 MSX1 IRF6
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.8 VAX1 TFAP2A TBX22 OVOL1 IRF6 GRHL3
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.76 TFAP2A MSX1 IRF6 GRHL3
5 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 9.73 VAX1 TFAP2A OVOL1 MSX1
6 sequence-specific DNA binding GO:0043565 9.72 TFAP2A MSX1 IRF6 GRHL3 FOXE1
7 DNA-binding transcription factor activity GO:0003700 9.63 VAX1 TFAP2A TBX22 IRF6 GRHL3 FOXE1
8 sequence-specific double-stranded DNA binding GO:1990837 9.43 VAX1 TFAP2A OVOL1 MSX1 IRF6 FOXE1
9 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.23 VAX1 TFAP2A TBX22 OVOL1 MSX1 IRF6

Sources for Popliteal Pterygium Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....