MCID: PPL046
MIFTS: 47

Popliteal Pterygium Syndrome 1

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

Aliases & Classifications for Popliteal Pterygium Syndrome 1

MalaCards integrated aliases for Popliteal Pterygium Syndrome 1:

Name: Popliteal Pterygium Syndrome 1 54 13
Popliteal Pterygium Syndrome 12 50 24 25 71 29 52 42 14 69
Facio-Genito-Popliteal Syndrome 12 25 56
Popliteal Web Syndrome 12 56 69
Pps 50 25 71
Faciogenitopopliteal Syndrome 50 71
Cleft Lip/palate, Paramedian Mucous Cysts of the Lower Lip, Popliteal Pterygium, Digital and Genital Anomalies 71
Cleft Lip/palate Paramedian Mucous Cysts of the Lower Lip Popliteal Pterygium Digital and Genital Anomalies 50
Autosomal Dominant Popliteal Pterygium Syndrome 56
Popliteal Pterygium 29

Characteristics:

Orphanet epidemiological data:

56
autosomal dominant popliteal pterygium syndrome
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
clinical variability
incidence of 1 in 300,000


HPO:

32
popliteal pterygium syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Popliteal Pterygium Syndrome 1

NIH Rare Diseases : 50 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. last updated: 2/1/2017

MalaCards based summary : Popliteal Pterygium Syndrome 1, also known as popliteal pterygium syndrome, is related to van der woude syndrome and popliteal pterygium syndrome, bartsocas-papas type, and has symptoms including scoliosis, micrognathia and ambiguous genitalia. An important gene associated with Popliteal Pterygium Syndrome 1 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 eye, and related phenotypes are Downregulation of NF-kappaB pathway after TNFalpha stimulation and growth/size/body region

UniProtKB/Swiss-Prot : 71 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.

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 : 72 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 1

Graphical network of the top 20 diseases related to Popliteal Pterygium Syndrome 1:



Diseases related to Popliteal Pterygium Syndrome 1

Symptoms & Phenotypes for Popliteal Pterygium Syndrome 1

Symptoms via clinical synopsis from OMIM:

54

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

Genitourinary- Internal Genitalia Male:
cryptorchidism

Genitourinary- External Genitalia Male:
bifid scrotum
hypoplastic scrotum

Genitourinary- Internal Genitalia Female:
hypoplastic uterus
hypoplastic vagina

Skin Nails & Hair- Skin:
popliteal pterygium
intercrural pterygium
variable skin syndactyly fingers and toes
pyramidal skinfold of halluces

Genitourinary- External Genitalia Female:
hypoplastic labia majora

Skeletal- Feet:
talipes equinovarus

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

Human phenotypes related to Popliteal Pterygium Syndrome 1:

56 32 (show all 34)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 56 32 frequent (33%) Frequent (79-30%) HP:0002650
2 micrognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000347
3 ambiguous genitalia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000062
4 choanal atresia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000453
5 cleft palate 56 32 hallmark (90%) Very frequent (99-80%) HP:0000175
6 hypoplastic labia majora 56 32 frequent (33%) Frequent (79-30%) HP:0000059
7 cryptorchidism 56 32 frequent (33%) Frequent (79-30%) HP:0000028
8 bifid scrotum 56 32 frequent (33%) Frequent (79-30%) HP:0000048
9 finger syndactyly 56 32 frequent (33%) Frequent (79-30%) HP:0006101
10 toe syndactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001770
11 joint stiffness 56 32 hallmark (90%) Very frequent (99-80%) HP:0001387
12 popliteal pterygium 56 32 frequent (33%) Frequent (79-30%) HP:0009756
13 scrotal hypoplasia 56 32 frequent (33%) Frequent (79-30%) HP:0000046
14 thin upper lip vermilion 56 32 hallmark (90%) Very frequent (99-80%) HP:0000219
15 split hand 56 32 occasional (7.5%) Occasional (29-5%) HP:0001171
16 generalized hirsutism 56 32 hallmark (90%) Very frequent (99-80%) HP:0002230
17 ankyloblepharon 56 32 frequent (33%) Frequent (79-30%) HP:0009755
18 abnormality of the nail 56 32 frequent (33%) Frequent (79-30%) HP:0001597
19 non-midline cleft lip 56 32 frequent (33%) Frequent (79-30%) HP:0100335
20 specific learning disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001328
21 abnormality of the ribs 56 32 frequent (33%) Frequent (79-30%) HP:0000772
22 lip pit 56 32 frequent (33%) Frequent (79-30%) HP:0100267
23 nonketotic hyperglycinemia 56 32 frequent (33%) Frequent (79-30%) HP:0008288
24 fibrous syngnathia 56 32 frequent (33%) Frequent (79-30%) HP:0009754
25 talipes equinovarus 32 HP:0001762
26 spina bifida occulta 32 HP:0003298
27 dementia 32 HP:0000726
28 intercrural pterygium 32 HP:0009757
29 cutaneous finger syndactyly 32 HP:0010554
30 cleft upper lip 32 HP:0000204
31 hypoplasia of the uterus 32 HP:0000013
32 lower lip pit 32 HP:0000196
33 hypoplasia of the vagina 32 HP:0008726
34 pyramidal skinfold extending from the base to the top of the nails 32 HP:0009758

GenomeRNAi Phenotypes related to Popliteal Pterygium Syndrome 1 according to GeneCards Suite gene sharing:

26
id 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 1:

44 (show all 15)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.3 IKBKG IRF6 JAG2 LTBP4 MATN3 RIPK4
2 digestive/alimentary MP:0005381 10.25 CHUK EREG GRHL3 IKBKG IRF6 JAG2
3 cellular MP:0005384 10.24 CHUK FBN1 FBN2 GRHL3 IKBKG IRF6
4 cardiovascular system MP:0005385 10.2 LTBP4 NHLH1 SATB2 TFAP2A CHUK FBN1
5 craniofacial MP:0005382 10.18 CHUK FBN1 GRHL3 IRF6 JAG2 RIPK4
6 immune system MP:0005387 10.18 CHUK EREG FBN1 GRHL3 IKBKG JAG2
7 hematopoietic system MP:0005397 10.13 CDH17 CHUK FBN1 GRHL3 IKBKG JAG2
8 integument MP:0010771 10.11 CHUK EREG FBN1 GRHL3 IKBKG IRF6
9 embryo MP:0005380 10.1 CHUK FBN1 GRHL3 IRF6 JAG2 SATB2
10 endocrine/exocrine gland MP:0005379 10.08 CHUK FBN1 IKBKG JAG2 LTBP4 SATB2
11 mortality/aging MP:0010768 10.07 NHLH1 RIPK4 SATB2 SFN TFAP2A CHUK
12 limbs/digits/tail MP:0005371 10.06 TFAP2A CHUK FBN1 FBN2 GRHL3 IRF6
13 neoplasm MP:0002006 9.63 CHUK EREG GRHL3 IKBKG LTBP4 SFN
14 respiratory system MP:0005388 9.61 CHUK FBN1 FBN2 JAG2 LTBP4 RIPK4
15 skeleton MP:0005390 9.32 CHUK FBN1 FBN2 GRHL3 IRF6 JAG2

Drugs & Therapeutics for Popliteal Pterygium Syndrome 1

Search Clinical Trials , NIH Clinical Center for Popliteal Pterygium Syndrome 1

Cochrane evidence based reviews: popliteal pterygium syndrome

Genetic Tests for Popliteal Pterygium Syndrome 1

Genetic tests related to Popliteal Pterygium Syndrome 1:

id Genetic test Affiliating Genes
1 Popliteal Pterygium Syndrome 29 24 IRF6
2 Popliteal Pterygium 29

Anatomical Context for Popliteal Pterygium Syndrome 1

MalaCards organs/tissues related to Popliteal Pterygium Syndrome 1:

39
Skin, Uterus, Eye

Publications for Popliteal Pterygium Syndrome 1

Variations for Popliteal Pterygium Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Popliteal Pterygium Syndrome 1:

71
id 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 1:

6
id 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.250C> T (p.Arg84Cys) single nucleotide variant Pathogenic rs121434226 GRCh37 Chromosome 1, 209969822: 209969822
3 IRF6 NM_006147.3(IRF6): c.251G> A (p.Arg84His) single nucleotide variant Pathogenic rs121434227 GRCh37 Chromosome 1, 209969821: 209969821
4 IRF6 NM_006147.3(IRF6): c.1016G> T (p.Arg339Ile) single nucleotide variant Pathogenic rs121434231 GRCh37 Chromosome 1, 209963884: 209963884
5 IRF6 NM_006147.3(IRF6): c.65T> C (p.Leu22Pro) single nucleotide variant Pathogenic rs387906967 GRCh37 Chromosome 1, 209974694: 209974694
6 IRF6 NM_006147.3(IRF6): c.251G> T (p.Arg84Leu) single nucleotide variant Pathogenic rs121434227 GRCh37 Chromosome 1, 209969821: 209969821
7 IRF6 NM_006147.3(IRF6): c.1271C> T (p.Ser424Leu) single nucleotide variant Pathogenic rs387906968 GRCh37 Chromosome 1, 209961898: 209961898
8 IRF6 NM_006147.3(IRF6): c.1316T> C (p.Leu439Pro) single nucleotide variant Pathogenic rs886038202 GRCh38 Chromosome 1, 209788508: 209788508

Expression for Popliteal Pterygium Syndrome 1

Search GEO for disease gene expression data for Popliteal Pterygium Syndrome 1.

Pathways for Popliteal Pterygium Syndrome 1

GO Terms for Popliteal Pterygium Syndrome 1

Cellular components related to Popliteal Pterygium Syndrome 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.46 FBN1 FBN2 LTBP4 MATN3
2 IkappaB kinase complex GO:0008385 8.96 CHUK IKBKG
3 microfibril GO:0001527 8.62 FBN1 FBN2

Biological processes related to Popliteal Pterygium Syndrome 1 according to GeneCards Suite gene sharing:

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 transcription from RNA polymerase II promoter GO:0006366 9.73 GRHL3 NHLH1 SATB2 TFAP2A
2 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.73 CHUK GRHL3 IKBKG NHLH1 SATB2 TFAP2A
3 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.65 CHUK IKBKG RIPK4
4 stress-activated MAPK cascade GO:0051403 9.51 CHUK IKBKG
5 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.49 CHUK IKBKG
6 establishment of skin barrier GO:0061436 9.46 GRHL3 SFN
7 eyelid development in camera-type eye GO:0061029 9.4 GRHL3 TFAP2A
8 keratinocyte proliferation GO:0043616 9.37 EREG IRF6
9 embryonic eye morphogenesis GO:0048048 9.32 FBN1 FBN2
10 regulation of cellular response to growth factor stimulus GO:0090287 9.16 FBN1 FBN2
11 sequestering of TGFbeta in extracellular matrix GO:0035583 8.96 FBN1 FBN2
12 keratinocyte differentiation GO:0030216 8.92 EREG IRF6 KRT10 SFN

Molecular functions related to Popliteal Pterygium Syndrome 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.5 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
5 protein binding GO:0005515 10.13 CHUK EREG FBN1 FBN2 GRHL3 IKBKG

Sources for Popliteal Pterygium Syndrome 1

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10 dbSNP
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16 ExPASy
18 FMA
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