PPS-L
MCID: BRT059
MIFTS: 44

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 57 75
Popliteal Pterygium Syndrome Lethal Type 76 53 29 6
Popliteal Pterygium Syndrome, Lethal Type 57 75 40
Bps 57 53 75
Popliteal Pterygium Syndrome, Bartsocas-Papas Type 57 53
Multiple Pterygium Syndrome, Aslan Type 57 53
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 53
Bartsocaspapas Syndrome 76
Pps-L 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
neonatal/infantile death in most patients


HPO:

32
bartsocas-papas syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bartsocas-Papas Syndrome

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 : 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 Apoptosis Modulation and Signaling and NF-kappaB Signaling. Affiliated tissues include bone, skin and eye, 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 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

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
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

Human phenotypes related to Bartsocas-Papas Syndrome:

32 (show all 47)
# 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 skin tags 32 HP:0010609
39 syndactyly 32 HP:0001159
40 absent eyebrow 32 HP:0002223
41 aplasia/hypoplasia of the distal phalanges of the toes 32 hallmark (90%) HP:0010185
42 alopecia totalis 32 occasional (7.5%) HP:0007418
43 sparse or absent eyelashes 32 hallmark (90%) HP:0200102
44 popliteal pterygium 32 hallmark (90%) HP:0009756
45 absent thumb 32 frequent (33%) HP:0009777
46 hypoplastic male external genitalia 32 occasional (7.5%) HP:0000050
47 eyelid coloboma 32 frequent (33%) HP:0000625

MGI Mouse Phenotypes related to Bartsocas-Papas Syndrome:

46
# 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 29 RIPK4

Anatomical Context for Bartsocas-Papas Syndrome

MalaCards organs/tissues related to Bartsocas-Papas Syndrome:

41
Bone, Skin, Eye

Publications for Bartsocas-Papas Syndrome

Articles related to Bartsocas-Papas Syndrome:

(show all 25)
# Title Authors Year
1
A Family from Turkey with Bartsocas-Papas Syndrome. ( 28416941 )
2017
2
Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome. ( 28940926 )
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:

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 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 rs764278537 GRCh37 Chromosome 21, 43171392: 43171392
9 RIPK4 NM_020639.2(RIPK4): c.488G> A (p.Gly163Asp) single nucleotide variant Uncertain significance rs764278537 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

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 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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