MCID: PPL059
MIFTS: 30

Popliteal Pterygium Syndrome, Lethal Type

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Popliteal Pterygium Syndrome, Lethal Type

MalaCards integrated aliases for Popliteal Pterygium Syndrome, Lethal Type:

Name: Popliteal Pterygium Syndrome, Lethal Type 57 75 40 73
Popliteal Pterygium Syndrome Lethal Type 76 53 29 6
Bps 57 53 75
Popliteal Pterygium Syndrome, Bartsocas-Papas Type 57 53
Multiple Pterygium Syndrome, Aslan Type 57 53
Bartsocas-Papas Syndrome 57 75
Lethal-Type Popliteal Pterygium Syndrome 37
Multiple Pterygium Syndrome Aslan Type 75
Pterygium, Popliteal, Lethal Type 57
Pterygium Popliteal Lethal Type 53
Bartsocas-Papas Syndrome; Bps 57
Bartsocas Papas Syndrome 53
Pps-L 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
neonatal/infantile death in most patients


HPO:

32
popliteal pterygium syndrome, lethal type:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Popliteal Pterygium Syndrome, Lethal Type

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1234Disease definitionBartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.Visit the Orphanet disease page for more resources.

MalaCards based summary : Popliteal Pterygium Syndrome, Lethal Type, also known as popliteal pterygium syndrome lethal type, is related to pyogenic sterile arthritis, pyoderma gangrenosum, and acne. An important gene associated with Popliteal Pterygium Syndrome, Lethal Type is RIPK4 (Receptor Interacting Serine/Threonine Kinase 4). Affiliated tissues include bone and skin, and related phenotypes are hypertelorism and low-set ears

OMIM : 57 Bartsocas-Papas syndrome (lethal popliteal pterygium syndrome) is an autosomal recessive disorder characterized by multiple popliteal pterygia, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and syndactyly. Early lethality is common, although survival into childhood and beyond has been reported (summary by Mitchell et al., 2012). A less severe form of popliteal pterygium syndrome (119500) is caused by mutation in the IRF6 gene (607199). (263650)

UniProtKB/Swiss-Prot : 75 Popliteal pterygium syndrome, lethal type: An autosomal recessive disorder characterized by multiple popliteal pterygia leading to severe arthrogryposis, ankyloblepharon filiforme adnatum, filiform bands between the jaws, synostosis of the carpal/tarsal and phalangeal bones in the hands and feet, digital hypoplasia/aplasia, complete soft-tissue syndactyly, lack of nails, lack of scalp hair, eyebrows and eyelashes, blepharophimosis, cleft lip and/or palate, and hypoplastic external genitalia. Early lethality is common, although survival into childhood and beyond has been reported.

Wikipedia : 76 Popliteal pterygium syndrome (PPS) is an inherited condition affecting the face, limbs, and genitalia.... more...

Related Diseases for Popliteal Pterygium Syndrome, Lethal Type

Diseases related to Popliteal Pterygium Syndrome, Lethal Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pyogenic sterile arthritis, pyoderma gangrenosum, and acne 10.2

Symptoms & Phenotypes for Popliteal Pterygium Syndrome, Lethal Type

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
cupped ears (in some patients)

Growth Other:
intrauterine growth retardation

Head And Neck Face:
facial cleft
hypoplastic maxilla (in some patients)
hypoplastic mandible (in some patients)

Skeletal Hands:
syndactyly
phalangeal hypoplasia
bony synostosis
thumb aplasia (in some patients)

Head And Neck Nose:
hypoplastic nose

Chest Ribs Sternum Clavicles And Scapulae:
hypoplastic scapulae (in some patients)

Skin Nails Hair Hair:
absent eyebrows (in some patients)
absent eyelashes (in some patients)
alopecia totalis (in some patients)

Abdomen External Features:
low-set umbilicus (in some patients)

Skeletal Pelvis:
hypoplasia of iliac wing (in some patients)

Skin Nails Hair Skin:
popliteal pterygium, bilateral
axillary pterygium, bilateral (in some patients)
inguinal pterygium, bilateral (in some patients)
pterygium of elbow, bilateral (in some patients)
pterygium of wrist, bilateral (in some patients)
more
Head And Neck Mouth:
cleft palate
cleft lip
filiform bands between mandible and maxilla

Genitourinary External Genitalia Female:
ambiguous genitalia
hypoplastic labia majora
absent clitoris (in some patients)

Abdomen Gastrointestinal:
anal stenosis

Skin Nails Hair Nails:
hypoplastic nails
absent nails

Head And Neck Eyes:
microphthalmia (in some patients)
hypertelorism (in some patients)
ankyloblepharon filiforme
absent eyebrows (in some patients)
absent eyelashes (in some patients)
more
GenitourinaryInternal GenitaliaMale:
cryptorchidism, bilateral (in some patients)

Chest Breasts:
asymmetric nipples (in some patients)
widely spaced nipples (in some patients)

Genitourinary External Genitalia Male:
hypoplastic genitalia (in some patients)

Skeletal Feet:
bony synostosis
oligosyndactyly of toes


Clinical features from OMIM:

263650

Human phenotypes related to Popliteal Pterygium Syndrome, Lethal Type:

32 (show all 46)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 occasional (7.5%) HP:0000316
2 low-set ears 32 HP:0000369
3 finger syndactyly 32 hallmark (90%) HP:0006101
4 intellectual disability 32 frequent (33%) HP:0001249
5 corneal opacity 32 frequent (33%) HP:0007957
6 synostosis of joints 32 hallmark (90%) HP:0100240
7 short nose 32 frequent (33%) HP:0003196
8 microcephaly 32 hallmark (90%) HP:0000252
9 cleft palate 32 hallmark (90%) HP:0000175
10 micrognathia 32 occasional (7.5%) HP:0000347
11 opacification of the corneal stroma 32 occasional (7.5%) HP:0007759
12 intrauterine growth retardation 32 HP:0001511
13 wide intermamillary distance 32 occasional (7.5%) HP:0006610
14 hypoplastic toenails 32 hallmark (90%) HP:0001800
15 renal hypoplasia/aplasia 32 occasional (7.5%) HP:0008678
16 underdeveloped nasal alae 32 frequent (33%) HP:0000430
17 microphthalmia 32 occasional (7.5%) HP:0000568
18 small nail 32 HP:0001792
19 hypoplasia of the maxilla 32 occasional (7.5%) HP:0000327
20 narrow mouth 32 frequent (33%) HP:0000160
21 anonychia 32 HP:0001798
22 aplasia/hypoplasia of the eyebrow 32 hallmark (90%) HP:0100840
23 ambiguous genitalia 32 hallmark (90%) HP:0000062
24 toe syndactyly 32 hallmark (90%) HP:0001770
25 cleft upper lip 32 HP:0000204
26 ankyloblepharon 32 hallmark (90%) HP:0009755
27 talipes 32 hallmark (90%) HP:0001883
28 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
29 absent eyelashes 32 HP:0000561
30 facial cleft 32 HP:0002006
31 hypoplastic labia majora 32 HP:0000059
32 median cleft lip 32 hallmark (90%) HP:0000161
33 bilateral cryptorchidism 32 occasional (7.5%) HP:0008689
34 hypoplastic scapulae 32 occasional (7.5%) HP:0000882
35 cupped ear 32 occasional (7.5%) HP:0000378
36 anal stenosis 32 HP:0002025
37 short phalanx of finger 32 HP:0009803
38 syndactyly 32 HP:0001159
39 absent eyebrow 32 HP:0002223
40 aplasia/hypoplasia of the distal phalanges of the toes 32 hallmark (90%) HP:0010185
41 alopecia totalis 32 occasional (7.5%) HP:0007418
42 sparse or absent eyelashes 32 hallmark (90%) HP:0200102
43 popliteal pterygium 32 hallmark (90%) HP:0009756
44 absent thumb 32 frequent (33%) HP:0009777
45 hypoplastic male external genitalia 32 occasional (7.5%) HP:0000050
46 eyelid coloboma 32 frequent (33%) HP:0000625

Drugs & Therapeutics for Popliteal Pterygium Syndrome, Lethal Type

Search Clinical Trials , NIH Clinical Center for Popliteal Pterygium Syndrome, Lethal Type

Genetic Tests for Popliteal Pterygium Syndrome, Lethal Type

Genetic tests related to Popliteal Pterygium Syndrome, Lethal Type:

# Genetic test Affiliating Genes
1 Popliteal Pterygium Syndrome Lethal Type 29 RIPK4

Anatomical Context for Popliteal Pterygium Syndrome, Lethal Type

MalaCards organs/tissues related to Popliteal Pterygium Syndrome, Lethal Type:

41
Bone, Skin

Publications for Popliteal Pterygium Syndrome, Lethal Type

Articles related to Popliteal Pterygium Syndrome, Lethal Type:

# Title Authors Year
1
Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome. ( 28940926 )
2017
2
Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome. ( 23610050 )
2013
3
Mental retardation, short stature and synpolydactyly in a manifesting heterozygote of Bartsocas-Papas syndrome. ( 23278251 )
2013
4
Bartsocas-Papas syndrome with variable expressivity in an Egyptian family. ( 22876587 )
2012
5
Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus. ( 22197488 )
2012
6
First-trimester diagnosis of Bartsocas-Papas syndrome (BPS) by transvaginal ultrasound: case report and review of the literature. ( 12575021 )
2003
7
Not a new variant of the autosomal recessive multiple pterygium syndrome but the Bartsocas-Papas syndrome. ( 11343344 )
2001
8
The Bartsocas-Papas syndrome: autosomal recessive form of popliteal pterygium syndrome in a male infant. ( 6720749 )
1984

Variations for Popliteal Pterygium Syndrome, Lethal Type

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

75
# Symbol AA change Variation ID SNP ID
1 RIPK4 p.Ile81Asn VAR_067331 rs387906922
2 RIPK4 p.Ile121Asn VAR_067332 rs387906923
3 RIPK4 p.Thr184Ile VAR_067333

ClinVar genetic disease variations for Popliteal Pterygium Syndrome, Lethal Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RIPK4 NM_020639.2(RIPK4): c.1127C> A (p.Ser376Ter) single nucleotide variant Pathogenic rs387906921 GRCh37 Chromosome 21, 43164110: 43164110
2 RIPK4 NM_020639.2(RIPK4): c.1127C> A (p.Ser376Ter) single nucleotide variant Pathogenic rs387906921 GRCh38 Chromosome 21, 41743950: 41743950
3 RIPK4 NM_020639.2(RIPK4): c.242T> A (p.Ile81Asn) single nucleotide variant Pathogenic rs387906922 GRCh37 Chromosome 21, 43176917: 43176917
4 RIPK4 NM_020639.2(RIPK4): c.242T> A (p.Ile81Asn) single nucleotide variant Pathogenic rs387906922 GRCh38 Chromosome 21, 41756757: 41756757
5 RIPK4 NM_020639.2(RIPK4): c.362T> A (p.Ile121Asn) single nucleotide variant Pathogenic rs387906923 GRCh37 Chromosome 21, 43176797: 43176797
6 RIPK4 NM_020639.2(RIPK4): c.362T> A (p.Ile121Asn) single nucleotide variant Pathogenic rs387906923 GRCh38 Chromosome 21, 41756637: 41756637
7 RIPK4 RIPK4, 1-BP INS, 777A insertion Pathogenic

Expression for Popliteal Pterygium Syndrome, Lethal Type

Search GEO for disease gene expression data for Popliteal Pterygium Syndrome, Lethal Type.

Pathways for Popliteal Pterygium Syndrome, Lethal Type

GO Terms for Popliteal Pterygium Syndrome, Lethal Type

Sources for Popliteal Pterygium Syndrome, Lethal Type

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62 PubMed
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69 SNOMED-CT via HPO
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71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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