PPS
MCID: PPL025
MIFTS: 56

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 56 12 74 52 25 58 73 36 29 54 6 43 15 39 71
Pps 56 52 25 73
Facio-Genito-Popliteal Syndrome 12 25 58
Faciogenitopopliteal Syndrome 56 52 73
Popliteal Web Syndrome 12 58 71
Cleft Lip/palate, Paramedian Mucous Cysts of the Lower Lip, Popliteal Pterygium, Digital and Genital Anomalies 56 73
Popliteal Pterygium Syndrome 1 56 13
Cleft Lip/palate Paramedian Mucous Cysts of the Lower Lip Popliteal Pterygium Digital and Genital Anomalies 52
Autosomal Dominant Popliteal Pterygium Syndrome 58
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:

56
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

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. 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 skin, uterus and testes, and related phenotypes are joint stiffness and micrognathia

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.

NIH Rare Diseases : 52 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 : 56 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)

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 : 73 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 : 74 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 328)
# Related Disease Score Top Affiliating Genes
1 bartsocas-papas syndrome 34.6 RIPK4 IRF6
2 syngnathia 30.9 MSX1 IRF6
3 chromosome 2q35 duplication syndrome 30.9 NECTIN1 MSX1 IRF6
4 cleft lip/palate 30.4 NECTIN1 MSX1 IRF6 ARHGAP29
5 van der woude syndrome 2 30.4 GRHL3 CFAP57
6 choanal atresia, posterior 29.8 TBX22 FOXE1
7 fetal encasement syndrome 29.2 SFN RIPK4 KDF1 IRF6 GRHL3 CHUK
8 van der woude syndrome 1 27.8 VAX1 TGFB3 TFAP2A TBX22 RIPK4 NHLH1
9 cleft lip 27.5 VAX1 TGFB3 TFAP2A TBX22 NECTIN1 MSX1
10 cleft palate, isolated 26.7 VAX1 TGFB3 TFAP2A TBX22 NHLH1 NECTIN1
11 orofacial cleft 26.2 VAX1 TGFB3 TFAP2A TBX22 NHLH1 NECTIN1
12 spondylohypoplasia, arthrogryposis and popliteal pterygium 12.6
13 irf6-related disorders 11.9
14 postpoliomyelitis syndrome 11.7
15 hyperkalemic periodic paralysis 11.2
16 parkinson disease 15, autosomal recessive early-onset 11.2
17 pemphigus 11.2
18 chaotic atrial tachycardia 11.2
19 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.3
20 orofacial clefting syndrome 10.3
21 viral infectious disease 10.2
22 rapp-hodgkin syndrome 10.2 RIPK4 IRF6
23 alkuraya-kucinskas syndrome 10.2
24 congenital amyoplasia 10.2
25 48,xyyy 10.2
26 cleft lip and alveolus 10.1 NECTIN1 MSX1 IRF6
27 pancreatic cancer 10.1
28 47,xyy 10.1
29 cleft palate with or without ankyloglossia, x-linked 10.1 TBX22 MSX1
30 liver disease 10.1
31 cleft soft palate 10.1 TBX22 IRF6 GRHL3
32 ankyloglossia with or without tooth anomalies 10.1 TBX22 MSX1 IRF6
33 hypertelorism 10.1
34 otitis media 10.1
35 palatopharyngeal incompetence 10.1
36 helix syndrome 10.1
37 sensorineural hearing loss 10.1
38 arthropathy 10.1
39 overgrowth syndrome 10.1
40 contractural arachnodactyly, congenital 10.0
41 marfan syndrome 10.0
42 amelia 10.0
43 amelia of upper limb 10.0
44 neonatal marfan syndrome 10.0
45 back pain 10.0
46 kaposi sarcoma 10.0
47 pelvic organ prolapse 10.0
48 intraocular pressure quantitative trait locus 10.0
49 microvascular complications of diabetes 5 10.0
50 duodenal ulcer 10.0

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 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
3 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
4 generalized hirsutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0002230
5 thin upper lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000219
6 toe syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001770
7 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
8 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
9 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
10 abnormality of the nail 58 31 frequent (33%) Frequent (79-30%) HP:0001597
11 non-midline cleft lip 58 31 frequent (33%) Frequent (79-30%) HP:0100335
12 bifid scrotum 58 31 frequent (33%) Frequent (79-30%) HP:0000048
13 abnormality of the ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000772
14 scrotal hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000046
15 hypoplastic labia majora 58 31 frequent (33%) Frequent (79-30%) HP:0000059
16 ankyloblepharon 58 31 frequent (33%) Frequent (79-30%) HP:0009755
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 dementia 31 HP:0000726
28 spina bifida occulta 31 HP:0003298
29 cutaneous finger syndactyly 31 HP:0010554
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:

56
Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Feet:
talipes equinovarus

Genitourinary External Genitalia Female:
hypoplastic labia majora

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

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

Genitourinary External Genitalia Male:
bifid scrotum
hypoplastic scrotum

Skeletal Spine:
spina bifida occulta

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

MGI Mouse Phenotypes related to Popliteal Pterygium Syndrome:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.34 ARHGAP29 CHUK FOXE1 GRHL3 IRF6 KDF1
2 digestive/alimentary MP:0005381 10.29 ARHGAP29 CHUK FOXE1 GRHL3 IRF6 KDF1
3 growth/size/body region MP:0005378 10.28 ARHGAP29 CHUK FOXE1 GRHL3 IRF6 KDF1
4 cellular MP:0005384 10.21 CHUK GRHL3 IRF6 KDF1 RIPK4 SFN
5 mortality/aging MP:0010768 10.13 ARHGAP29 CHUK FOXE1 GRHL3 IRF6 KDF1
6 integument MP:0010771 10.07 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
Skin, Uterus, Testes, Liver, Heart, Eye, Kidney

Publications for Popliteal Pterygium Syndrome

Articles related to Popliteal Pterygium Syndrome:

(show top 50) (show all 121)
# Title Authors PMID Year
1
A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia. 54 61 56 6
18478600 2008
2
Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene. 54 61 56 6
14757865 2004
3
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. 54 61 56 6
12219090 2002
4
Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders. 61 56 6
25691407 2015
5
Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome. 61 56 6
20803643 2010
6
IRF6-Related Disorders 61 6
20301581 2003
7
Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32. 61 56
10593995 1999
8
Variable expression of the popliteal pterygium syndrome in two 3-generation families. 61 56
7628117 1995
9
The popliteal pterygium syndrome: report of a new family and review of the literature. 61 56
2164325 1990
10
Popliteal pterygium syndrome. 61 56
2352260 1990
11
A family with the popliteal pterygium syndrome. 61 56
6928117 1980
12
Popliteal pterygium syndrome: report of a family. 61 56
830904 1977
13
Phenotypic variation in the popliteal pterygium syndrome. 61 56
4203060 1973
14
[Popliteal pterygium syndrome]. 61 56
5493566 1970
15
[The popliteal pterygium syndrome. A dominant autosomal malformation syndrome]. 61 56
4325529 1970
16
Popliteal pterygium syndrome . A syndrome comprising cleft lip-palate, popliteal and intercrural pterygia, digital and genital anomalies. 61 56
4384166 1968
17
Congenital sinuses of the lower lip in connection with cleft lip and palate. 56
5266345 1970
18
Heritable dysmorphic syndrome with normal intelligence. 56
6026118 1967
19
[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]. 56
14041701 1962
20
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. 54 61
19282774 2009
21
Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6. 54 61
19036739 2009
22
A familial case of popliteal pterygium syndrome. 54 61
18617879 2008
23
Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch. 54 61
17041603 2006
24
Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome. 54 61
16160700 2005
25
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
26
Novel mutations in the IRF6 gene for Van der Woude syndrome. 54 61
12920575 2003
27
Management of severe congenital flexion deformity of the knee using Ilizarov method. 61
30807513 2020
28
Hemiscrotal agenesis with complete testicular descent in Van der Woude syndrome: a new phenotypic feature. 61
31488442 2019
29
Periderm: Life-cycle and function during orofacial and epidermal development. 61
28803895 2019
30
IRF6 and AP2A Interaction Regulates Epidermal Development. 61
29913133 2018
31
Van der Woude and Popliteal Pterygium Syndromes. 61
29916977 2018
32
Popliteal pterygium syndrome: A rare syndrome. 61
30505101 2018
33
Interferon Regulatory Factor 6 Is Necessary for Salivary Glands and Pancreas Development. 61
28898113 2018
34
Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome. 61
28940926 2017
35
Popliteal Pterygium Syndrome With Syngnathia. 61
28468208 2017
36
Interferon Regulatory Factor 6 Controls Proliferation of Keratinocytes From Children With Van der Woude Syndrome. 61
27115562 2017
37
Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6. 61
27286731 2016
38
Genetic Factors in Selected Complex Congenital Malformations with Cleft Defect. 61
28028964 2016
39
Bartsocas-Papas Syndrome: A Case Report and Review of the Literature. 61
25275471 2016
40
A rare nonsyndromic presentation of bilateral doughnut shaped lip pits in an Indian child. 61
27237218 2016
41
Toward an orofacial gene regulatory network. 61
26332872 2016
42
Palatoglossal fusion with cleft palate and hypoplasia of cerebellar vermis. 61
27274132 2016
43
Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing. 61
25441681 2015
44
Symptomatic Accessory Medial Meniscus Associated With Popliteal Pterygium Syndrome. 61
25992493 2015
45
Novel Mutations in the IRF6 Gene on the Background of Known Polymorphisms in Polish Patients With Orofacial Clefting. 61
25489771 2015
46
A novel RIPK4-IRF6 connection is required to prevent epithelial fusions characteristic for popliteal pterygium syndromes. 61
25430793 2015
47
A Japanese family with popliteal pterygium syndrome. 61
27252970 2015
48
Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report. 61
25547932 2014
49
Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome. 61
25388409 2014
50
Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability. 61
25548624 2014

Variations for Popliteal Pterygium Syndrome

ClinVar genetic disease variations for Popliteal Pterygium Syndrome:

6 (show top 50) (show all 152) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IRF6 NM_006147.4(IRF6):c.1177C>T (p.Gln393Ter)SNV Pathogenic 3413 rs121434225 1:209963014-209963014 1:209789669-209789669
2 IRF6 NM_006147.4(IRF6):c.250C>T (p.Arg84Cys)SNV Pathogenic 3414 rs121434226 1:209969822-209969822 1:209796477-209796477
3 IRF6 NM_006147.4(IRF6):c.251G>A (p.Arg84His)SNV Pathogenic 3415 rs121434227 1:209969821-209969821 1:209796476-209796476
4 IRF6 NM_006147.4(IRF6):c.1016G>T (p.Arg339Ile)SNV Pathogenic 3423 rs121434231 1:209963884-209963884 1:209790539-209790539
5 IRF6 NM_006147.4(IRF6):c.65T>C (p.Leu22Pro)SNV Pathogenic 30652 rs387906967 1:209974694-209974694 1:209801349-209801349
6 IRF6 NM_006147.4(IRF6):c.251G>T (p.Arg84Leu)SNV Pathogenic 30653 rs121434227 1:209969821-209969821 1:209796476-209796476
7 IRF6 NM_006147.4(IRF6):c.1271C>T (p.Ser424Leu)SNV Pathogenic 30654 rs387906968 1:209961898-209961898 1:209788553-209788553
8 IRF6 NM_006147.4(IRF6):c.1316T>C (p.Leu439Pro)SNV Pathogenic 254674 rs886038202 1:209961853-209961853 1:209788508-209788508
9 IRF6 NM_006147.4(IRF6):c.226C>T (p.Pro76Ser)SNV Pathogenic 265196 rs886039388 1:209969846-209969846 1:209796501-209796501
10 IRF6 NM_006147.4(IRF6):c.1234C>T (p.Arg412Ter)SNV Pathogenic 458682 rs1553247595 1:209961935-209961935 1:209788590-209788590
11 IRF6 NM_006147.4(IRF6):c.749G>A (p.Arg250Gln)SNV Pathogenic 458684 rs1553247774 1:209964151-209964151 1:209790806-209790806
12 IRF6 NM_006147.4(IRF6):c.133del (p.Arg45fs)deletion Pathogenic 659301 1:209974626-209974626 1:209801281-209801281
13 IRF6 NM_006147.4(IRF6):c.25C>T (p.Arg9Trp)SNV Pathogenic/Likely pathogenic 449039 rs1553248641 1:209974734-209974734 1:209801389-209801389
14 IRF6 NM_006147.4(IRF6):c.16C>T (p.Arg6Cys)SNV Pathogenic/Likely pathogenic 3417 rs28942094 1:209974743-209974743 1:209801398-209801398
15 IRF6 NM_006147.4(IRF6):c.292G>C (p.Asp98His)SNV Likely pathogenic 650115 1:209969780-209969780 1:209796435-209796435
16 IRF6 NM_006147.4(IRF6):c.176C>T (p.Ala59Val)SNV Likely pathogenic 663350 1:209969896-209969896 1:209796551-209796551
17 IRF6 NM_006147.4(IRF6):c.1314_1324del (p.Gln438fs)deletion Likely pathogenic 583293 rs1558038218 1:209961845-209961855 1:209788500-209788510
18 RIPK4 NM_020639.3(RIPK4):c.267C>T (p.Arg89=)SNV Conflicting interpretations of pathogenicity 340035 rs55798804 21:43176892-43176892 21:41756732-41756732
19 RIPK4 NM_020639.3(RIPK4):c.1980C>T (p.Gly660=)SNV Conflicting interpretations of pathogenicity 340015 rs144946647 21:43161373-43161373 21:41741213-41741213
20 RIPK4 NM_020639.3(RIPK4):c.1941G>A (p.Thr647=)SNV Conflicting interpretations of pathogenicity 340016 rs116160025 21:43161412-43161412 21:41741252-41741252
21 RIPK4 NM_020639.3(RIPK4):c.1617G>A (p.Thr539=)SNV Conflicting interpretations of pathogenicity 340017 rs61740535 21:43161736-43161736 21:41741576-41741576
22 RIPK4 NM_020639.3(RIPK4):c.1243G>A (p.Val415Met)SNV Conflicting interpretations of pathogenicity 340022 rs55645753 21:43162110-43162110 21:41741950-41741950
23 RIPK4 NM_020639.3(RIPK4):c.2325C>T (p.Ala775=)SNV Conflicting interpretations of pathogenicity 340010 rs148947402 21:43161028-43161028 21:41740868-41740868
24 RIPK4 NM_020639.3(RIPK4):c.819G>A (p.Arg273=)SNV Conflicting interpretations of pathogenicity 340027 rs139503982 21:43166786-43166786 21:41746626-41746626
25 RIPK4 NM_020639.3(RIPK4):c.2145C>T (p.His715=)SNV Conflicting interpretations of pathogenicity 340012 rs61739694 21:43161208-43161208 21:41741048-41741048
26 RIPK4 NM_020639.3(RIPK4):c.1884C>T (p.Ser628=)SNV Conflicting interpretations of pathogenicity 191165 rs55812846 21:43161469-43161469 21:41741309-41741309
27 IRF6 NM_006147.4(IRF6):c.1210G>A (p.Glu404Lys)SNV Conflicting interpretations of pathogenicity 217873 rs769068305 1:209961959-209961959 1:209788614-209788614
28 IRF6 NM_006147.4(IRF6):c.*2268C>TSNV Uncertain significance 295174 rs752399888 1:209959497-209959497 1:209786152-209786152
29 IRF6 NM_006147.4(IRF6):c.*2122T>CSNV Uncertain significance 295176 rs567043500 1:209959643-209959643 1:209786298-209786298
30 IRF6 NM_006147.4(IRF6):c.-3-11G>CSNV Uncertain significance 295212 rs886045885 1:209974772-209974772 1:209801427-209801427
31 IRF6 NM_001206696.1(IRF6):c.-335C>GSNV Uncertain significance 295218 rs886045887 1:209979515-209979515 1:209806170-209806170
32 IRF6 NM_006147.4(IRF6):c.*575T>ASNV Uncertain significance 295196 rs561885624 1:209961190-209961190 1:209787845-209787845
33 IRF6 NM_006147.4(IRF6):c.*219_*220insCAinsertion Uncertain significance 295204 rs886045882 1:209961545-209961546 1:209788200-209788201
34 IRF6 NM_001206696.1(IRF6):c.-326C>TSNV Uncertain significance 295217 rs569844625 1:209979506-209979506 1:209806161-209806161
35 IRF6 NM_006147.4(IRF6):c.*2064G>ASNV Uncertain significance 295177 rs886045876 1:209959701-209959701 1:209786356-209786356
36 IRF6 NM_006147.4(IRF6):c.*1844G>ASNV Uncertain significance 295179 rs886045877 1:209959921-209959921 1:209786576-209786576
37 IRF6 NM_006147.4(IRF6):c.*1767G>ASNV Uncertain significance 295180 rs886045878 1:209959998-209959998 1:209786653-209786653
38 IRF6 NM_006147.4(IRF6):c.*2344C>TSNV Uncertain significance 295173 rs866747914 1:209959421-209959421 1:209786076-209786076
39 IRF6 NM_006147.4(IRF6):c.*1123T>CSNV Uncertain significance 295187 rs886045879 1:209960642-209960642 1:209787297-209787297
40 IRF6 NM_006147.4(IRF6):c.1007T>G (p.Leu336Arg)SNV Uncertain significance 295207 rs761816133 1:209963893-209963893 1:209790548-209790548
41 IRF6 NM_006147.4(IRF6):c.598A>G (p.Met200Val)SNV Uncertain significance 295209 rs886045884 1:209965683-209965683 1:209792338-209792338
42 IRF6 NM_006147.4(IRF6):c.*591T>GSNV Uncertain significance 295195 rs576516344 1:209961174-209961174 1:209787829-209787829
43 IRF6 NM_006147.4(IRF6):c.-98T>CSNV Uncertain significance 295216 rs886045886 1:209979314-209979314 1:209805969-209805969
44 IRF6 NM_006147.4(IRF6):c.*2795G>ASNV Uncertain significance 295168 rs760763242 1:209958970-209958970 1:209785625-209785625
45 IRF6 NM_006147.4(IRF6):c.*804_*805insTinsertion Uncertain significance 295191 rs886045880 1:209960960-209960961 1:209787615-209787616
46 IRF6 NM_006147.4(IRF6):c.*803dupduplication Uncertain significance 295192 rs886045881 1:209960961-209960962 1:209787616-209787617
47 IRF6 NM_006147.4(IRF6):c.1388C>T (p.Ala463Val)SNV Uncertain significance 295206 rs886045883 1:209961781-209961781 1:209788436-209788436
48 RIPK4 NM_020639.3(RIPK4):c.*1081C>TSNV Uncertain significance 339988 rs886057082 21:43159917-43159917 21:41739757-41739757
49 RIPK4 NM_020639.3(RIPK4):c.*978C>GSNV Uncertain significance 339991 rs76434022 21:43160020-43160020 21:41739860-41739860
50 RIPK4 NM_020639.3(RIPK4):c.*281G>ASNV Uncertain significance 340000 rs576215477 21:43160717-43160717 21:41740557-41740557

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

73
# 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 nuclear chromatin GO:0000790 9.23 VAX1 TFAP2A TBX22 NHLH1 MSX1 IRF6

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.91 VAX1 TFAP2A NHLH1 GRHL3 FOXE1
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.89 VAX1 TFAP2A TBX22 MSX1 FOXE1
3 negative regulation of cell proliferation GO:0008285 9.83 TGFB3 TFAP2A MSX1 IRF6
4 positive regulation of transcription, DNA-templated GO:0045893 9.73 TGFB3 TFAP2A IRF6 GRHL3 FOXE1 CHUK
5 central nervous system development GO:0007417 9.65 VAX1 NHLH1 GRHL3
6 positive regulation of transcription by RNA polymerase II GO:0045944 9.56 TGFB3 TFAP2A TBX22 NHLH1 MSX1 IRF6
7 embryonic forelimb morphogenesis GO:0035115 9.55 TFAP2A MSX1
8 face morphogenesis GO:0060325 9.54 TGFB3 MSX1
9 negative regulation of keratinocyte proliferation GO:0010839 9.46 SFN KDF1
10 eyelid development in camera-type eye GO:0061029 9.43 TFAP2A GRHL3
11 keratinocyte development GO:0003334 9.4 SFN KDF1
12 positive regulation of epidermal cell differentiation GO:0045606 9.37 SFN KDF1
13 establishment of skin barrier GO:0061436 9.33 SFN KDF1 GRHL3
14 regulation of epidermal cell division GO:0010482 9.32 SFN KDF1
15 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 DNA binding GO:0003677 9.97 VAX1 TFAP2A TBX22 NHLH1 MSX1 IRF6
2 DNA-binding transcription factor activity GO:0003700 9.8 VAX1 TFAP2A TBX22 IRF6 GRHL3 FOXE1
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.71 TFAP2A TBX22 NHLH1 MSX1
4 sequence-specific DNA binding GO:0043565 9.63 VAX1 TFAP2A MSX1 IRF6 GRHL3 FOXE1
5 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 9.56 VAX1 TFAP2A TBX22 MSX1
6 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.43 TFAP2A TBX22 NHLH1 MSX1 IRF6 GRHL3
7 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.23 VAX1 TFAP2A TBX22 NHLH1 MSX1 IRF6

Sources for Popliteal Pterygium Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....