PPS
MCID: PPL025
MIFTS: 54

Popliteal Pterygium Syndrome (PPS)

Categories: Genetic diseases, Rare diseases, Eye diseases, Fetal 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 van der woude syndrome 1 and cleft lip. 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 G12-G13 in Cellular Signaling. Affiliated tissues include skin, uterus and testes, and related phenotypes are finger syndactyly and scoliosis

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.

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.

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.

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.

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

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

GenitourinaryInternal GenitaliaMale:
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 dementia 32 HP:0000726
26 talipes equinovarus 32 HP:0001762
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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Downregulation of NF-kappaB pathway after TNFalpha stimulation GR00199-A-2 8.8 CHUK IKBKG RIPK4

MGI Mouse Phenotypes related to Popliteal Pterygium Syndrome:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.3 CHUK FBN1 FBN2 GRHL3 IKBKG IRF6
2 growth/size/body region MP:0005378 10.3 TFAP2A CHUK EREG FBN1 FBN2 GRHL3
3 digestive/alimentary MP:0005381 10.24 CHUK EREG GRHL3 IKBKG IRF6 JAG2
4 cardiovascular system MP:0005385 10.19 IKBKG LTBP4 NHLH1 SATB2 TFAP2A CHUK
5 immune system MP:0005387 10.18 CDH17 CHUK EREG FBN1 GRHL3 IKBKG
6 craniofacial MP:0005382 10.16 CHUK FBN1 GRHL3 IRF6 JAG2 RIPK4
7 hematopoietic system MP:0005397 10.13 CDH17 CHUK FBN1 GRHL3 IKBKG JAG2
8 integument MP:0010771 10.11 IRF6 JAG2 LTBP4 RIPK4 SFN TFAP2A
9 embryo MP:0005380 10.08 CHUK FBN1 GRHL3 IRF6 JAG2 SATB2
10 mortality/aging MP:0010768 10.07 CHUK FBN1 FBN2 GRHL3 IKBKG IRF6
11 limbs/digits/tail MP:0005371 10.06 CHUK FBN1 FBN2 GRHL3 IRF6 JAG2
12 neoplasm MP:0002006 9.63 CHUK EREG GRHL3 IKBKG LTBP4 SFN
13 respiratory system MP:0005388 9.61 CHUK FBN1 FBN2 JAG2 LTBP4 RIPK4
14 skeleton MP:0005390 9.32 MATN3 SATB2 SFN TFAP2A CHUK FBN1

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

Publications for Popliteal Pterygium Syndrome

Articles related to Popliteal Pterygium Syndrome:

(show top 50) (show all 65)
# Title Authors Year
1
Popliteal Pterygium Syndrome With Syngnathia. ( 28468208 )
2017
2
Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6. ( 27286731 )
2016
3
Symptomatic Accessory Medial Meniscus Associated With Popliteal Pterygium Syndrome. ( 25992493 )
2015
4
A Japanese family with popliteal pterygium syndrome. ( 27252970 )
2015
5
Secondary nerve lengthening to obtain full knee extension in popliteal pterygium syndrome. ( 24683134 )
2014
6
Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa. ( 24936515 )
2014
7
Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report. ( 25547932 )
2014
8
Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome. ( 25388409 )
2014
9
Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability. ( 25548624 )
2014
10
Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases. ( 23154523 )
2013
11
Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes. ( 23949966 )
2013
12
Popliteal pterygium syndrome: a rare entity. ( 22953299 )
2012
13
Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome. ( 22197489 )
2012
14
Popliteal pterygium syndrome: orofacial and general features. ( 22016320 )
2011
15
Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome. ( 20803643 )
2010
16
Popliteal pterygium syndrome. ( 21124670 )
2010
17
Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling. ( 19623037 )
2009
18
Popliteal Pterygium Syndrome--a case report. ( 19743799 )
2009
19
Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6. ( 19036739 )
2009
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. ( 19282774 )
2009
21
The Shikani Optical Stylet: a useful adjunct to airway management in a neonate with popliteal pterygium syndrome. ( 18184253 )
2008
22
A familial case of popliteal pterygium syndrome. ( 18617879 )
2008
23
Popliteal pterygium syndrome (PPS) with intra-alveolar syngnathia: a discussion of anesthetic and surgical considerations. ( 17651819 )
2007
24
Popliteal Pterygium syndrome. ( 16735771 )
2006
25
Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome. ( 16160700 )
2005
26
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. ( 15939375 )
2005
27
Popliteal pterygium syndrome with unusual features. ( 15080416 )
2004
28
Popliteal pterygium syndrome: implications for orthopaedic management. ( 15083121 )
2004
29
Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene. ( 14757865 )
2004
30
A case of familial popliteal pterygium syndrome: early surgical intervention for successful treatment. ( 12961094 )
2003
31
Popliteal pterygium syndrome with syngnathia. ( 12535046 )
2003
32
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. ( 12219090 )
2002
33
MR imaging of popliteal pterygium syndrome in pediatric patients. ( 11959746 )
2002
34
Endoscopic release of intraoral synechiae in popliteal pterygium syndrome. ( 12439026 )
2002
35
Prenatal ultrasonographic diagnosis of the popliteal pterygium syndrome. ( 10861717 )
2000
36
On the nosology of van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling. ( 10756431 )
2000
37
Popliteal pterygium syndrome in a Swedish family--clinical findings and genetic analysis with the van der Woude syndrome locus at 1q32-q41. ( 10894430 )
2000
38
Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32. ( 10593995 )
1999
39
A recessively inherited non-lethal form of popliteal pterygium syndrome. ( 9643601 )
1998
40
Popliteal pterygium syndrome with penile and groin testicular ectopia. ( 9839607 )
1998
41
Variable expression of the popliteal pterygium syndrome in two 3-generation families. ( 7628117 )
1995
42
The popliteal pterygium syndrome: an analysis of two families. ( 7798358 )
1994
43
Popliteal pterygium syndrome with special consideration of the cleft malformation: case report. ( 1312355 )
1992
44
The popliteal pterygium syndrome: report of a new family and review of the literature. ( 2164325 )
1990
45
Popliteal pterygium syndrome: an orthopaedic perspective. ( 2405020 )
1990
46
Popliteal pterygium syndrome. ( 2352260 )
1990
47
The popliteal pterygium syndrome: distinct phenotypic variation in two families. ( 2745146 )
1989
48
Urological manifestations of the popliteal pterygium syndrome. ( 2926888 )
1989
49
Popliteal pterygium syndrome. ( 3372139 )
1988
50
Popliteal pterygium syndrome. ( 3468461 )
1987

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 278)
# 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/Likely pathogenic rs886039388 GRCh37 Chromosome 1, 209969846: 209969846
42 IRF6 NM_006147.3(IRF6): c.226C> T (p.Pro76Ser) single nucleotide variant Pathogenic/Likely 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 12.14 CHUK IKBKG IRF6 RIPK4
2 11.63 CDH17 CHUK IKBKG
3
Show member pathways
11.2 FBN1 FBN2 LTBP4
4 10.73 CHUK IKBKG
5 10.34 CHUK IKBKG
6 9.91 CHUK IKBKG
7 9.53 IRF6 TFAP2A

GO Terms for Popliteal Pterygium Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 IkappaB kinase complex GO:0008385 8.96 CHUK IKBKG
2 microfibril GO:0001527 8.62 FBN1 FBN2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.87 CHUK GRHL3 IKBKG IRF6 NHLH1 SATB2
2 transcription by RNA polymerase II GO:0006366 9.85 GRHL3 IRF6 NHLH1 SATB2 TFAP2A
3 anatomical structure morphogenesis GO:0009653 9.56 CHUK EREG FBN1 FBN2
4 establishment of skin barrier GO:0061436 9.49 GRHL3 SFN
5 MyD88-independent toll-like receptor signaling pathway GO:0002756 9.48 CHUK IKBKG
6 eyelid development in camera-type eye GO:0061029 9.43 GRHL3 TFAP2A
7 keratinocyte proliferation GO:0043616 9.4 EREG IRF6
8 embryonic eye morphogenesis GO:0048048 9.37 FBN1 FBN2
9 regulation of cellular response to growth factor stimulus GO:0090287 9.16 FBN1 FBN2
10 sequestering of TGFbeta in extracellular matrix GO:0035583 8.96 FBN1 FBN2
11 keratinocyte differentiation GO:0030216 8.92 EREG IRF6 KRT10 SFN

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.43 CDH17 FBN1 LTBP4
2 calcium ion binding GO:0005509 9.43 CDH17 FBN1 FBN2 JAG2 LTBP4 MATN3
3 extracellular matrix structural constituent GO:0005201 9.33 FBN1 FBN2 MATN3
4 extracellular matrix constituent conferring elasticity GO:0030023 8.62 FBN1 FBN2

Sources for Popliteal Pterygium Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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