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 75 53 25 59 74 37 29 55 6 44 15 40 72
Pps 57 53 25 74
Facio-Genito-Popliteal Syndrome 12 25 59
Faciogenitopopliteal Syndrome 57 53 74
Popliteal Web Syndrome 12 59 72
Cleft Lip/palate, Paramedian Mucous Cysts of the Lower Lip, Popliteal Pterygium, Digital and Genital Anomalies 57 74
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
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
Inheritance:
autosomal dominant

Miscellaneous:
clinical variability
incidence of 1 in 300,000


HPO:

32
popliteal pterygium syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060055
OMIM 57 119500
KEGG 37 H00611
NCIt 50 C118786
SNOMED-CT 68 66783006
ICD10 via Orphanet 34 Q87.2
UMLS via Orphanet 73 C0265259
MedGen 42 C0265259
UMLS 72 C0265259 C0345398

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 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 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.

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.

KEGG : 37
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 : 74 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 : 75 Popliteal pterygium syndrome (PPS) is an inherited condition affecting the face, limbs, and genitalia.... more...

More information 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 308)
# Related Disease Score Top Affiliating Genes
1 bartsocas-papas syndrome 34.2 RIPK4 IRF6
2 van der woude syndrome 1 31.7 TFAP2A RIPK4 IRF6 GRHL3
3 cleft lip 30.3 TFAP2A IRF6 GRHL3
4 cleft lip/palate 30.1 TBX22 IRF6
5 cleft palate, isolated 29.0 TFAP2A TBX22 IRF6 GRHL3
6 cocoon syndrome 28.7 RIPK4 IRF6 GRHL3 CHUK
7 spondylohypoplasia, arthrogryposis and popliteal pterygium 12.6
8 irf6-related disorders 11.9
9 postpoliomyelitis syndrome 11.7
10 hyperkalemic periodic paralysis 11.2
11 parkinson disease 15, autosomal recessive early-onset 11.2
12 west nile virus 11.2
13 pemphigus 11.2
14 chaotic atrial tachycardia 11.2
15 chromosome 2q35 duplication syndrome 10.6
16 immunodeficiency, common variable, 10 10.5
17 syngnathia 10.4
18 choanal atresia, posterior 10.3
19 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.3
20 orofacial clefting syndrome 10.3
21 48,xyyy 10.2
22 viral infectious disease 10.2
23 alkuraya-kucinskas syndrome 10.2
24 congenital amyoplasia 10.2
25 pancreatic cancer 10.1
26 liver disease 10.1
27 47,xyy 10.1
28 rapidly involuting congenital hemangioma 10.1
29 hypertelorism 10.1
30 otitis media 10.1
31 palatopharyngeal incompetence 10.1
32 van der woude syndrome 2 10.1
33 helix syndrome 10.1
34 orofacial cleft 10.1
35 sensorineural hearing loss 10.1
36 arthropathy 10.1
37 overgrowth syndrome 10.1
38 contractural arachnodactyly, congenital 10.0
39 marfan syndrome 10.0
40 amelia 10.0
41 amelia of upper limb 10.0
42 neonatal marfan syndrome 10.0
43 back pain 10.0
44 kaposi sarcoma 10.0
45 pelvic organ prolapse 10.0
46 autism 10.0
47 intraocular pressure quantitative trait locus 10.0
48 microvascular complications of diabetes 5 10.0
49 duodenal ulcer 10.0
50 pulmonary tuberculosis 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:

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

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

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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Downregulation of NF-kappaB pathway after LMP1 stimulation GR00199-A-1 9.16 CHUK RIPK4
2 Downregulation of NF-kappaB pathway after TNFalpha stimulation GR00199-A-2 8.96 CHUK RIPK4
3 Negative genetic interaction between MUS81-/- and MUS81+/+ GR00255-A-2 8.8 GRHL3 IRF6 TBX22

MGI Mouse Phenotypes related to Popliteal Pterygium Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.95 CHUK GRHL3 IRF6 RIPK4 TBX22 TFAP2A
2 craniofacial MP:0005382 9.93 CHUK GRHL3 IRF6 RIPK4 TBX22 TFAP2A
3 digestive/alimentary MP:0005381 9.91 CHUK GRHL3 IRF6 RIPK4 TBX22 TFAP2A
4 growth/size/body region MP:0005378 9.85 CHUK GRHL3 IRF6 RIPK4 TBX22 TFAP2A
5 integument MP:0010771 9.72 CHUK GRHL3 IRF6 RIPK4 TFAP2A
6 embryo MP:0005380 9.71 CHUK GRHL3 IRF6 TFAP2A
7 limbs/digits/tail MP:0005371 9.65 CHUK GRHL3 IRF6 RIPK4 TFAP2A
8 mortality/aging MP:0010768 9.63 CHUK GRHL3 IRF6 RIPK4 TBX22 TFAP2A
9 respiratory system MP:0005388 9.26 CHUK RIPK4 TBX22 TFAP2A
10 skeleton MP:0005390 9.02 CHUK GRHL3 IRF6 TBX22 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, Heart, Pancreas, Salivary Gland

Publications for Popliteal Pterygium Syndrome

Articles related to Popliteal Pterygium Syndrome:

(show top 50) (show all 120)
# Title Authors PMID Year
1
A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia. 9 38 8 71
18478600 2008
2
Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene. 9 38 8 71
14757865 2004
3
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. 9 38 8 71
12219090 2002
4
Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders. 38 8 71
25691407 2015
5
Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome. 38 8 71
20803643 2010
6
IRF6-Related Disorders 38 71
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. 38 8
10593995 1999
8
Variable expression of the popliteal pterygium syndrome in two 3-generation families. 38 8
7628117 1995
9
The popliteal pterygium syndrome: report of a new family and review of the literature. 38 8
2164325 1990
10
Popliteal pterygium syndrome. 38 8
2352260 1990
11
A family with the popliteal pterygium syndrome. 38 8
6928117 1980
12
Popliteal pterygium syndrome: report of a family. 38 8
830904 1977
13
Phenotypic variation in the popliteal pterygium syndrome. 38 8
4203060 1973
14
[Popliteal pterygium syndrome]. 38 8
5493566 1970
15
[The popliteal pterygium syndrome. A dominant autosomal malformation syndrome]. 38 8
4325529 1970
16
Popliteal pterygium syndrome . A syndrome comprising cleft lip-palate, popliteal and intercrural pterygia, digital and genital anomalies. 38 8
4384166 1968
17
Congenital sinuses of the lower lip in connection with cleft lip and palate. 8
5266345 1970
18
Heritable dysmorphic syndrome with normal intelligence. 8
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]. 8
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. 9 38
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. 9 38
19036739 2009
22
A familial case of popliteal pterygium syndrome. 9 38
18617879 2008
23
Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch. 9 38
17041603 2006
24
Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome. 9 38
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. 9 38
15939375 2005
26
Novel mutations in the IRF6 gene for Van der Woude syndrome. 9 38
12920575 2003
27
Periderm: Life-cycle and function during orofacial and epidermal development. 38
28803895 2019
28
Management of severe congenital flexion deformity of the knee using Ilizarov method. 38
30807513 2019
29
IRF6 and AP2A Interaction Regulates Epidermal Development. 38
29913133 2018
30
Van der Woude and Popliteal Pterygium Syndromes. 38
29916977 2018
31
Popliteal pterygium syndrome: A rare syndrome. 38
30505101 2018
32
Interferon Regulatory Factor 6 Is Necessary for Salivary Glands and Pancreas Development. 38
28898113 2018
33
Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome. 38
28940926 2017
34
Interferon Regulatory Factor 6 Controls Proliferation of Keratinocytes From Children With Van der Woude Syndrome. 38
27115562 2017
35
Popliteal Pterygium Syndrome With Syngnathia. 38
28468208 2017
36
Genetic Factors in Selected Complex Congenital Malformations with Cleft Defect. 38
28028964 2016
37
Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6. 38
27286731 2016
38
Bartsocas-Papas Syndrome: A Case Report and Review of the Literature. 38
25275471 2016
39
A rare nonsyndromic presentation of bilateral doughnut shaped lip pits in an Indian child. 38
27237218 2016
40
Toward an orofacial gene regulatory network. 38
26332872 2016
41
Palatoglossal fusion with cleft palate and hypoplasia of cerebellar vermis. 38
27274132 2016
42
Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing. 38
25441681 2015
43
Symptomatic Accessory Medial Meniscus Associated With Popliteal Pterygium Syndrome. 38
25992493 2015
44
Novel Mutations in the IRF6 Gene on the Background of Known Polymorphisms in Polish Patients With Orofacial Clefting. 38
25489771 2015
45
A novel RIPK4-IRF6 connection is required to prevent epithelial fusions characteristic for popliteal pterygium syndromes. 38
25430793 2015
46
A Japanese family with popliteal pterygium syndrome. 38
27252970 2015
47
Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome. 38
25388409 2014
48
Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report. 38
25547932 2014
49
Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability. 38
25548624 2014
50
Receptor-interacting protein kinase 4 and interferon regulatory factor 6 function as a signaling axis to regulate keratinocyte differentiation. 38
25246526 2014

Variations for Popliteal Pterygium Syndrome

ClinVar genetic disease variations for Popliteal Pterygium Syndrome:

6 (show top 50) (show all 152)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 IRF6 NM_006147.4(IRF6): c.1234C> T (p.Arg412Ter) single nucleotide variant Pathogenic rs1553247595 1:209961935-209961935 1:209788590-209788590
2 IRF6 NM_006147.4(IRF6): c.1177C> T (p.Gln393Ter) single nucleotide variant Pathogenic rs121434225 1:209963014-209963014 1:209789669-209789669
3 IRF6 NM_006147.4(IRF6): c.250C> T (p.Arg84Cys) single nucleotide variant Pathogenic rs121434226 1:209969822-209969822 1:209796477-209796477
4 IRF6 NM_006147.4(IRF6): c.251G> A (p.Arg84His) single nucleotide variant Pathogenic rs121434227 1:209969821-209969821 1:209796476-209796476
5 IRF6 NM_006147.4(IRF6): c.1016G> T (p.Arg339Ile) single nucleotide variant Pathogenic rs121434231 1:209963884-209963884 1:209790539-209790539
6 IRF6 NM_006147.4(IRF6): c.65T> C (p.Leu22Pro) single nucleotide variant Pathogenic rs387906967 1:209974694-209974694 1:209801349-209801349
7 IRF6 NM_006147.4(IRF6): c.251G> T (p.Arg84Leu) single nucleotide variant Pathogenic rs121434227 1:209969821-209969821 1:209796476-209796476
8 IRF6 NM_006147.4(IRF6): c.1271C> T (p.Ser424Leu) single nucleotide variant Pathogenic rs387906968 1:209961898-209961898 1:209788553-209788553
9 IRF6 NM_006147.4(IRF6): c.749G> A (p.Arg250Gln) single nucleotide variant Pathogenic rs1553247774 1:209964151-209964151 1:209790806-209790806
10 IRF6 NM_006147.4(IRF6): c.1316T> C (p.Leu439Pro) single nucleotide variant Pathogenic rs886038202 1:209961853-209961853 1:209788508-209788508
11 IRF6 NM_006147.4(IRF6): c.226C> T (p.Pro76Ser) single nucleotide variant Pathogenic rs886039388 1:209969846-209969846 1:209796501-209796501
12 IRF6 NM_006147.4(IRF6): c.133del (p.Arg45fs) deletion Pathogenic 1:209974626-209974626 1:209801283-209801283
13 IRF6 NM_006147.4(IRF6): c.16C> T (p.Arg6Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28942094 1:209974743-209974743 1:209801398-209801398
14 IRF6 NM_006147.4(IRF6): c.25C> T (p.Arg9Trp) single nucleotide variant Pathogenic/Likely pathogenic rs1553248641 1:209974734-209974734 1:209801389-209801389
15 IRF6 NM_006147.4(IRF6): c.292G> C (p.Asp98His) single nucleotide variant Likely pathogenic 1:209969780-209969780 1:209796435-209796435
16 IRF6 NM_006147.4(IRF6): c.176C> T (p.Ala59Val) single nucleotide variant Likely pathogenic 1:209969896-209969896 1:209796551-209796551
17 IRF6 NM_006147.4(IRF6): c.1314_1324del (p.Gln438fs) deletion Likely pathogenic 1:209961845-209961855 1:209788500-209788510
18 IRF6 NM_006147.4(IRF6): c.1210G> A (p.Glu404Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs769068305 1:209961959-209961959 1:209788614-209788614
19 IRF6 NM_006147.4(IRF6): c.82T> G (p.Trp28Gly) single nucleotide variant Uncertain significance rs1553248637 1:209974677-209974677 1:209801332-209801332
20 IRF6 NM_006147.4(IRF6): c.*2268C> T single nucleotide variant Uncertain significance rs752399888 1:209959497-209959497 1:209786152-209786152
21 IRF6 NM_006147.4(IRF6): c.*2122T> C single nucleotide variant Uncertain significance rs567043500 1:209959643-209959643 1:209786298-209786298
22 IRF6 NM_006147.4(IRF6): c.-3-11G> C single nucleotide variant Uncertain significance rs886045885 1:209974772-209974772 1:209801427-209801427
23 IRF6 NM_001206696.1(IRF6): c.-335C> G single nucleotide variant Uncertain significance rs886045887 1:209979515-209979515 1:209806170-209806170
24 IRF6 NM_006147.4(IRF6): c.*575T> A single nucleotide variant Uncertain significance rs561885624 1:209961190-209961190 1:209787845-209787845
25 IRF6 NM_006147.4(IRF6): c.*219_*220insCA insertion Uncertain significance rs886045882 1:209961545-209961546 1:209788200-209788201
26 IRF6 NM_001206696.1(IRF6): c.-326C> T single nucleotide variant Uncertain significance rs569844625 1:209979506-209979506 1:209806161-209806161
27 IRF6 NM_006147.4(IRF6): c.*2064G> A single nucleotide variant Uncertain significance rs886045876 1:209959701-209959701 1:209786356-209786356
28 IRF6 NM_006147.4(IRF6): c.*1844G> A single nucleotide variant Uncertain significance rs886045877 1:209959921-209959921 1:209786576-209786576
29 IRF6 NM_006147.4(IRF6): c.*1767G> A single nucleotide variant Uncertain significance rs886045878 1:209959998-209959998 1:209786653-209786653
30 IRF6 NM_006147.4(IRF6): c.950G> A (p.Cys317Tyr) single nucleotide variant Uncertain significance 1:209963950-209963950 1:209790605-209790605
31 IRF6 NM_006147.4(IRF6): c.665C> T (p.Pro222Leu) single nucleotide variant Uncertain significance 1:209965616-209965616 1:209792271-209792271
32 IRF6 NM_006147.4(IRF6): c.1388C> T (p.Ala463Val) single nucleotide variant Uncertain significance rs886045883 1:209961781-209961781 1:209788436-209788436
33 RIPK4 NM_020639.3(RIPK4): c.*1081C> T single nucleotide variant Uncertain significance rs886057082 21:43159917-43159917 21:41739757-41739757
34 RIPK4 NM_020639.3(RIPK4): c.*978C> G single nucleotide variant Uncertain significance rs76434022 21:43160020-43160020 21:41739860-41739860
35 RIPK4 NM_020639.3(RIPK4): c.*281G> A single nucleotide variant Uncertain significance rs576215477 21:43160717-43160717 21:41740557-41740557
36 RIPK4 NM_020639.3(RIPK4): c.1941G> A (p.Thr647=) single nucleotide variant Uncertain significance rs116160025 21:43161412-43161412 21:41741252-41741252
37 RIPK4 NM_020639.3(RIPK4): c.1617G> A (p.Thr539=) single nucleotide variant Uncertain significance rs61740535 21:43161736-43161736 21:41741576-41741576
38 RIPK4 NM_020639.3(RIPK4): c.1425G> A (p.Leu475=) single nucleotide variant Uncertain significance rs56092943 21:43161928-43161928 21:41741768-41741768
39 RIPK4 NM_020639.3(RIPK4): c.1243G> A (p.Val415Met) single nucleotide variant Uncertain significance rs55645753 21:43162110-43162110 21:41741950-41741950
40 IRF6 NM_006147.4(IRF6): c.41_42delinsGT (p.Leu14Arg) indel Uncertain significance 1:209974717-209974718 1:209801372-209801373
41 IRF6 NM_006147.4(IRF6): c.174+2dup duplication Uncertain significance 1:209974583-209974583 1:209801238-209801238
42 IRF6 NM_006147.4(IRF6): c.565G> A (p.Glu189Lys) single nucleotide variant Uncertain significance 1:209965716-209965716 1:209792371-209792371
43 IRF6 NM_006147.4(IRF6): c.*2344C> T single nucleotide variant Uncertain significance rs866747914 1:209959421-209959421 1:209786076-209786076
44 IRF6 NM_006147.4(IRF6): c.*1123T> C single nucleotide variant Uncertain significance rs886045879 1:209960642-209960642 1:209787297-209787297
45 IRF6 NM_006147.4(IRF6): c.1007T> G (p.Leu336Arg) single nucleotide variant Uncertain significance rs761816133 1:209963893-209963893 1:209790548-209790548
46 IRF6 NM_006147.4(IRF6): c.598A> G (p.Met200Val) single nucleotide variant Uncertain significance rs886045884 1:209965683-209965683 1:209792338-209792338
47 IRF6 NM_006147.4(IRF6): c.*591T> G single nucleotide variant Uncertain significance rs576516344 1:209961174-209961174 1:209787829-209787829
48 IRF6 NM_006147.4(IRF6): c.-98T> C single nucleotide variant Uncertain significance rs886045886 1:209979314-209979314 1:209805969-209805969
49 IRF6 NM_006147.4(IRF6): c.*2795G> A single nucleotide variant Uncertain significance rs760763242 1:209958970-209958970 1:209785625-209785625
50 IRF6 NM_006147.4(IRF6): c.*804_*805insT insertion Uncertain significance rs886045880 1:209960960-209960961 1:209787615-209787616

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

74
# 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 11.65 RIPK4 IRF6 CHUK
2 9.53 TFAP2A IRF6

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 TFAP2A IRF6 GRHL3 CHUK
2 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.26 RIPK4 CHUK
3 positive regulation of transcription, DNA-templated GO:0045893 9.26 TFAP2A IRF6 GRHL3 CHUK
4 eyelid development in camera-type eye GO:0061029 8.62 TFAP2A GRHL3

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.33 TFAP2A IRF6 GRHL3
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.26 TFAP2A TBX22 IRF6 GRHL3
3 DNA-binding transcription factor activity GO:0003700 8.92 TFAP2A TBX22 IRF6 GRHL3

Sources for Popliteal Pterygium Syndrome

3 CDC
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10 dbSNP
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17 EFO
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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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