PPS-L
MCID: BRT059
MIFTS: 42

Bartsocas-Papas Syndrome (PPS-L)

Categories: Eye diseases, Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Bartsocas-Papas Syndrome

MalaCards integrated aliases for Bartsocas-Papas Syndrome:

Name: Bartsocas-Papas Syndrome 58 77 76
Popliteal Pterygium Syndrome Lethal Type 77 54 30 6
Popliteal Pterygium Syndrome, Lethal Type 58 76 41
Bps 58 54 76
Popliteal Pterygium Syndrome, Bartsocas-Papas Type 58 54
Multiple Pterygium Syndrome, Aslan Type 58 54
Lethal-Type Popliteal Pterygium Syndrome 38
Multiple Pterygium Syndrome Aslan Type 76
Pterygium, Popliteal, Lethal Type 58
Pterygium Popliteal Lethal Type 54
Bartsocas Papas Syndrome 54
Pps-L 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
neonatal/infantile death in most patients


HPO:

33
bartsocas-papas syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bartsocas-Papas Syndrome

NIH Rare Diseases : 54 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 : Bartsocas-Papas Syndrome, also known as popliteal pterygium syndrome lethal type, is related to popliteal pterygium syndrome and multiple pterygium syndrome, escobar variant. An important gene associated with Bartsocas-Papas Syndrome is RIPK4 (Receptor Interacting Serine/Threonine Kinase 4), and among its related pathways/superpathways are NF-kappaB Signaling and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include bone and skin, and related phenotypes are finger syndactyly and synostosis of joints

OMIM : 58 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 : 76 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 : 77 Multiple pterygium syndrome is a cutaneous condition inherited in an autosomal dominant... more...

Related Diseases for Bartsocas-Papas Syndrome

Graphical network of the top 20 diseases related to Bartsocas-Papas Syndrome:



Diseases related to Bartsocas-Papas Syndrome

Symptoms & Phenotypes for Bartsocas-Papas Syndrome

Human phenotypes related to Bartsocas-Papas Syndrome:

33 (show all 47)
# Description HPO Frequency HPO Source Accession
1 finger syndactyly 33 hallmark (90%) HP:0006101
2 synostosis of joints 33 hallmark (90%) HP:0100240
3 microcephaly 33 hallmark (90%) HP:0000252
4 cleft palate 33 hallmark (90%) HP:0000175
5 hypoplastic toenails 33 hallmark (90%) HP:0001800
6 aplasia/hypoplasia of the eyebrow 33 hallmark (90%) HP:0100840
7 ambiguous genitalia 33 hallmark (90%) HP:0000062
8 toe syndactyly 33 hallmark (90%) HP:0001770
9 ankyloblepharon 33 hallmark (90%) HP:0009755
10 talipes 33 hallmark (90%) HP:0001883
11 median cleft lip 33 hallmark (90%) HP:0000161
12 aplasia/hypoplasia of the distal phalanges of the toes 33 hallmark (90%) HP:0010185
13 alopecia totalis 33 occasional (7.5%) HP:0007418
14 sparse or absent eyelashes 33 hallmark (90%) HP:0200102
15 popliteal pterygium 33 hallmark (90%) HP:0009756
16 hypoplastic male external genitalia 33 occasional (7.5%) HP:0000050
17 intellectual disability 33 frequent (33%) HP:0001249
18 corneal opacity 33 frequent (33%) HP:0007957
19 short nose 33 frequent (33%) HP:0003196
20 micrognathia 33 occasional (7.5%) HP:0000347
21 underdeveloped nasal alae 33 frequent (33%) HP:0000430
22 narrow mouth 33 frequent (33%) HP:0000160
23 absent thumb 33 frequent (33%) HP:0009777
24 eyelid coloboma 33 frequent (33%) HP:0000625
25 hypertelorism 33 occasional (7.5%) HP:0000316
26 opacification of the corneal stroma 33 occasional (7.5%) HP:0007759
27 wide intermamillary distance 33 occasional (7.5%) HP:0006610
28 renal hypoplasia/aplasia 33 occasional (7.5%) HP:0008678
29 microphthalmia 33 occasional (7.5%) HP:0000568
30 hypoplasia of the maxilla 33 occasional (7.5%) HP:0000327
31 abnormality of cardiovascular system morphology 33 occasional (7.5%) HP:0030680
32 bilateral cryptorchidism 33 occasional (7.5%) HP:0008689
33 hypoplastic scapulae 33 occasional (7.5%) HP:0000882
34 cupped ear 33 occasional (7.5%) HP:0000378
35 low-set ears 33 HP:0000369
36 intrauterine growth retardation 33 HP:0001511
37 small nail 33 HP:0001792
38 anonychia 33 HP:0001798
39 cleft upper lip 33 HP:0000204
40 absent eyelashes 33 HP:0000561
41 facial cleft 33 HP:0002006
42 hypoplastic labia majora 33 HP:0000059
43 anal stenosis 33 HP:0002025
44 short phalanx of finger 33 HP:0009803
45 skin tags 33 HP:0010609
46 syndactyly 33 HP:0001159
47 absent eyebrow 33 HP:0002223

Symptoms via clinical synopsis from OMIM:

58
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
Genitourinary Internal Genitalia Male:
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

MGI Mouse Phenotypes related to Bartsocas-Papas Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.43 IRF6 RIPK4 TP63
2 digestive/alimentary MP:0005381 9.33 IRF6 RIPK4 TP63
3 integument MP:0010771 9.13 IRF6 RIPK4 TP63
4 limbs/digits/tail MP:0005371 8.8 IRF6 RIPK4 TP63

Drugs & Therapeutics for Bartsocas-Papas Syndrome

Search Clinical Trials , NIH Clinical Center for Bartsocas-Papas Syndrome

Genetic Tests for Bartsocas-Papas Syndrome

Genetic tests related to Bartsocas-Papas Syndrome:

# Genetic test Affiliating Genes
1 Popliteal Pterygium Syndrome Lethal Type 30 RIPK4

Anatomical Context for Bartsocas-Papas Syndrome

MalaCards organs/tissues related to Bartsocas-Papas Syndrome:

42
Bone, Skin

Publications for Bartsocas-Papas Syndrome

Articles related to Bartsocas-Papas Syndrome:

(show all 25)
# Title Authors Year
1
Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome. ( 28940926 )
2017
2
A Family from Turkey with Bartsocas-Papas Syndrome. ( 28416941 )
2017
3
Bartsocas-Papas Syndrome: A Case Report and Review of the Literature. ( 25275471 )
2016
4
Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome. ( 23610050 )
2013
5
Mental retardation, short stature and synpolydactyly in a manifesting heterozygote of Bartsocas-Papas syndrome. ( 23278251 )
2013
6
Bartsocas-Papas syndrome with variable expressivity in an Egyptian family. ( 22876587 )
2012
7
Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus. ( 22197488 )
2012
8
Bartsocas-papas syndrome: unusual findings in the first reported egyptian family. ( 23074676 )
2011
9
Bartsocas-Papas syndrome. ( 18820389 )
2008
10
Prenatal diagnosis of a Turkish Bartsocas-Papas syndrome case with upper limb pterigia. ( 17457955 )
2007
11
Craniofacial characteristics evidenced in Bartsocas-Papas syndrome from birth to five years. Case report. ( 16925011 )
2006
12
Mutations in IRF6 do not cause Bartsocas-Papas syndrome in a family with two affected sibs. ( 15264293 )
2004
13
Bartsocas-Papas syndrome in a Pakistani family from Kuwait. ( 15297688 )
2004
14
First-trimester diagnosis of Bartsocas-Papas syndrome (BPS) by transvaginal ultrasound: case report and review of the literature. ( 12575021 )
2003
15
Unreported manifestations in two Dutch families with Bartsocas-Papas syndrome. ( 14608644 )
2003
16
Not a new variant of the autosomal recessive multiple pterygium syndrome but the Bartsocas-Papas syndrome. ( 11343344 )
2001
17
The first description of lethal pterygium syndrome with facial clefting(Bartsocas-Papas syndrome) in 1600. ( 10819643 )
2000
18
Bartsocas-Papas syndrome with fusion of the lips and posterior fusion defects of the thoracic vertebrae. ( 10517476 )
1999
19
Bartsocas-Papas syndrome in an Arab family with four affected sibs: further characterization. ( 9738862 )
1998
20
Bartsocas-Papas syndrome with internal anomalies: evidence for a more generalized epithelial defect or new syndrome? ( 7856636 )
1994
21
New case of Bartsocas-Papas syndrome surviving at 20 months. ( 1632449 )
1992
22
Bartsocas-Papas syndrome: three familial cases from Spain. ( 1867261 )
1991
23
Nosological difference between the Bartsocas-Papas syndrome and lethal multiple pterygium syndrome. ( 3377016 )
1988
24
Bartsocas-Papas syndrome. A case report. ( 2984611 )
1985
25
The Bartsocas-Papas syndrome: autosomal recessive form of popliteal pterygium syndrome in a male infant. ( 6720749 )
1984

Variations for Bartsocas-Papas Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Bartsocas-Papas Syndrome:

76
# 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 Bartsocas-Papas Syndrome:

6 (show all 11)
# 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
8 RIPK4 NM_020639.2(RIPK4): c.488G> A (p.Gly163Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 21, 43171392: 43171392
9 RIPK4 NM_020639.2(RIPK4): c.488G> A (p.Gly163Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 21, 41751232: 41751232
10 RIPK4 NM_020639.2(RIPK4): c.1074dup (p.Glu359Terfs) duplication Pathogenic GRCh38 Chromosome 21, 41744003: 41744003
11 RIPK4 NM_020639.2(RIPK4): c.1074dup (p.Glu359Terfs) duplication Pathogenic GRCh37 Chromosome 21, 43164163: 43164163

Expression for Bartsocas-Papas Syndrome

Search GEO for disease gene expression data for Bartsocas-Papas Syndrome.

Pathways for Bartsocas-Papas Syndrome

Pathways related to Bartsocas-Papas Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.67 IRF6 RIPK4
2 11.08 IRF6 TP63
3 9.53 IRF6 TP63

GO Terms for Bartsocas-Papas Syndrome

Biological processes related to Bartsocas-Papas Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinocyte differentiation GO:0030216 8.62 IRF6 TP63

Molecular functions related to Bartsocas-Papas Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription regulatory region DNA binding GO:0044212 8.62 IRF6 TP63

Sources for Bartsocas-Papas Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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