BPS
MCID: BRT059
MIFTS: 43

Bartsocas-Papas Syndrome (BPS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Bartsocas-Papas Syndrome

MalaCards integrated aliases for Bartsocas-Papas Syndrome:

Name: Bartsocas-Papas Syndrome 56 74 58 73
Popliteal Pterygium Syndrome Lethal Type 74 52 29 6
Popliteal Pterygium Syndrome, Lethal Type 56 73 39
Multiple Pterygium Syndrome, Aslan Type 56 52 73
Bps 56 52 73
Popliteal Pterygium Syndrome, Bartsocas-Papas Type 56 52
Autosomal Recessive Popliteal Pterygium Syndrome 58
Lethal-Type Popliteal Pterygium Syndrome 36
Lethal Popliteal Pterygium Syndrome 58
Pterygium, Popliteal, Lethal Type 56
Pterygium Popliteal Lethal Type 52
Bartsocas Papas Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
bartsocas-papas syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
neonatal/infantile death in most patients


HPO:

31
bartsocas-papas syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Bartsocas-Papas Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1234 Definition Bartsocas-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 chromosome 2q35 duplication syndrome and cleft lip. 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, skin and eye, and related phenotypes are finger syndactyly and synostosis of joints

OMIM : 56 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)

KEGG : 36 Lethal-type popliteal pterygium syndrome (LPPS), described as an autosomal-recessive form of popliteal pterygium syndrome (PPS) and also known as Bartsocas-Papas syndrome (BPS), is characterized by a more severe phenotype than that associated with the autosomal-dominant form. LPPS is characterised by multiple popliteal pterygia, cutaneous syndactyly, lack of nails, ankyloblepharon, filiform bands between the jaws, hypoplastic external genitalia, cleft lip and/or palate, and fetal or neonatal lethality, although, in the latter case, survival into childhood and beyond has been reported. It has been shown that recessive mutations in RIPK4 cause LPPS.

UniProtKB/Swiss-Prot : 73 Bartsocas-Papas syndrome: 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 : 74 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:

58 31 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006101
2 synostosis of joints 58 31 hallmark (90%) Very frequent (99-80%) HP:0100240
3 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
4 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
5 hypoplastic toenails 58 31 hallmark (90%) Very frequent (99-80%) HP:0001800
6 talipes 58 31 hallmark (90%) Very frequent (99-80%) HP:0001883
7 aplasia/hypoplasia of the eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0100840
8 ambiguous genitalia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000062
9 toe syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001770
10 ankyloblepharon 58 31 hallmark (90%) Very frequent (99-80%) HP:0009755
11 median cleft lip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000161
12 sparse or absent eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0200102
13 aplasia/hypoplasia of the distal phalanges of the toes 58 31 hallmark (90%) Very frequent (99-80%) HP:0010185
14 alopecia totalis 58 31 occasional (7.5%) Very frequent (99-80%) HP:0007418
15 hypoplastic male external genitalia 58 31 occasional (7.5%) Very frequent (99-80%) HP:0000050
16 popliteal pterygium 58 31 hallmark (90%) Very frequent (99-80%) HP:0009756
17 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
18 corneal opacity 58 31 frequent (33%) Frequent (79-30%) HP:0007957
19 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
20 micrognathia 58 31 occasional (7.5%) Frequent (79-30%) HP:0000347
21 underdeveloped nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0000430
22 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
23 absent thumb 58 31 frequent (33%) Frequent (79-30%) HP:0009777
24 eyelid coloboma 31 frequent (33%) HP:0000625
25 renal hypoplasia/aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008678
26 hypertelorism 31 occasional (7.5%) HP:0000316
27 opacification of the corneal stroma 31 occasional (7.5%) HP:0007759
28 wide intermamillary distance 31 occasional (7.5%) HP:0006610
29 microphthalmia 31 occasional (7.5%) HP:0000568
30 hypoplasia of the maxilla 31 occasional (7.5%) HP:0000327
31 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
32 bilateral cryptorchidism 31 occasional (7.5%) HP:0008689
33 hypoplastic scapulae 31 occasional (7.5%) HP:0000882
34 cupped ear 31 occasional (7.5%) HP:0000378
35 axillary pterygium 31 very rare (1%) HP:0001060
36 inferiorly positioned umbilicus 31 very rare (1%) HP:0032527
37 low-set ears 31 HP:0000369
38 absent eyelashes 31 HP:0000561
39 intrauterine growth retardation 31 HP:0001511
40 small nail 31 HP:0001792
41 absent eyebrow 31 HP:0002223
42 malformation of the heart and great vessels 58 Occasional (29-5%)
43 cleft upper lip 31 HP:0000204
44 cleft eyelid 58 Frequent (79-30%)
45 anonychia 31 HP:0001798
46 hypoplastic labia majora 31 HP:0000059
47 facial cleft 31 HP:0002006
48 anal stenosis 31 HP:0002025
49 short phalanx of finger 31 HP:0009803
50 syndactyly 31 HP:0001159

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears
cupped ears (in some patients)

Head And Neck Mouth:
cleft palate
cleft lip
filiform bands between mandible and maxilla

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
Growth Other:
intrauterine growth retardation

Genitourinary External Genitalia Female:
hypoplastic labia majora
ambiguous genitalia
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:

45
# 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

Anatomical Context for Bartsocas-Papas Syndrome

MalaCards organs/tissues related to Bartsocas-Papas Syndrome:

40
Bone, Skin, Eye, Heart

Publications for Bartsocas-Papas Syndrome

Articles related to Bartsocas-Papas Syndrome:

(show all 43)
# Title Authors PMID Year
1
Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome. 61 56 6
28940926 2017
2
Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus. 61 56 6
22197488 2012
3
Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome. 61 56 6
22197489 2012
4
Bartsocas-papas syndrome: unusual findings in the first reported egyptian family. 61 56 6
23074676 2011
5
Mutations in IRF6 do not cause Bartsocas-Papas syndrome in a family with two affected sibs. 61 56 6
15264293 2004
6
Autosomal recessive multiple pterygium syndrome: a new variant? 56 6
10925380 2000
7
Unreported manifestations in two Dutch families with Bartsocas-Papas syndrome. 61 56
14608644 2003
8
Not a new variant of the autosomal recessive multiple pterygium syndrome but the Bartsocas-Papas syndrome. 61 56
11343344 2001
9
Bartsocas-Papas syndrome in an Arab family with four affected sibs: further characterization. 61 56
9738862 1998
10
New case of Bartsocas-Papas syndrome surviving at 20 months. 61 56
1632449 1992
11
Bartsocas-Papas syndrome: three familial cases from Spain. 61 56
1867261 1991
12
The Bartsocas-Papas syndrome: autosomal recessive form of popliteal pterygium syndrome in a male infant. 61 56
6720749 1984
13
The lethal multiple pterygium syndromes. 56
6539071 1984
14
Limb pterygium syndromes: a review and report of eleven patients. 56
7124793 1982
15
Popliteal pterygium syndrome. Evidence for a severe autosomal recessive form. 56
4339984 1972
16
Periderm: Life-cycle and function during orofacial and epidermal development. 61
28803895 2019
17
Crystal Structure of Ripk4 Reveals Dimerization-Dependent Kinase Activity. 61
29706531 2018
18
A Family from Turkey with Bartsocas-Papas Syndrome. 61
28416941 2017
19
Bartsocas-Papas Syndrome: A Case Report and Review of the Literature. 61
25275471 2016
20
Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes. 61
26129644 2015
21
Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions. 61
25784454 2015
22
CT and MRI of congenital nasal lesions in syndromic conditions. 61
25573243 2015
23
A novel RIPK4-IRF6 connection is required to prevent epithelial fusions characteristic for popliteal pterygium syndromes. 61
25430793 2015
24
Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders. 61
25691407 2015
25
Receptor-interacting protein kinase 4 and interferon regulatory factor 6 function as a signaling axis to regulate keratinocyte differentiation. 61
25246526 2014
26
Periderm prevents pathological epithelial adhesions during embryogenesis. 61
25133425 2014
27
Mental retardation, short stature and synpolydactyly in a manifesting heterozygote of Bartsocas-Papas syndrome. 61
23278251 2013
28
Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome. 61
23610050 2013
29
Phosphorylation of Dishevelled by protein kinase RIPK4 regulates Wnt signaling. 61
23371553 2013
30
Bartsocas-Papas syndrome with variable expressivity in an Egyptian family. 61
22876587 2012
31
Bartsocas-Papas syndrome. 61
18820389 2008
32
Prenatal diagnosis of a Turkish Bartsocas-Papas syndrome case with upper limb pterigia. 61
17457955 2007
33
Craniofacial characteristics evidenced in Bartsocas-Papas syndrome from birth to five years. Case report. 61
16925011 2006
34
Spectrum of features in pterygium syndrome. 61
16644513 2006
35
Bartsocas-Papas syndrome in a Pakistani family from Kuwait. 61
15297688 2004
36
First-trimester diagnosis of Bartsocas-Papas syndrome (BPS) by transvaginal ultrasound: case report and review of the literature. 61
12575021 2003
37
The first description of lethal pterygium syndrome with facial clefting(Bartsocas-Papas syndrome) in 1600. 61
10819643 2000
38
Bartsocas-Papas syndrome with fusion of the lips and posterior fusion defects of the thoracic vertebrae. 61
10517476 1999
39
Supernumerary nipples in a Bartsocas-Papas patient in a consanguineous Iranian family. 61
10319208 1999
40
Bartsocas-Papas syndrome with internal anomalies: evidence for a more generalized epithelial defect or new syndrome? 61
7856636 1994
41
Nosological difference between the Bartsocas-Papas syndrome and lethal multiple pterygium syndrome. 61
3377016 1988
42
Pathogenetic analysis of certain developmental and genetic ectodermal defects. 61
3052621 1988
43
Bartsocas-Papas syndrome. A case report. 61
2984611 1985

Variations for Bartsocas-Papas Syndrome

ClinVar genetic disease variations for Bartsocas-Papas Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RIPK4 NM_020639.3(RIPK4):c.1127C>A (p.Ser376Ter)SNV Pathogenic 30511 rs387906921 21:43164110-43164110 21:41743950-41743950
2 RIPK4 NM_020639.3(RIPK4):c.242T>A (p.Ile81Asn)SNV Pathogenic 30512 rs387906922 21:43176917-43176917 21:41756757-41756757
3 RIPK4 NM_020639.3(RIPK4):c.362T>A (p.Ile121Asn)SNV Pathogenic 30513 rs387906923 21:43176797-43176797 21:41756637-41756637
4 RIPK4 RIPK4, 1-BP INS, 777Ainsertion Pathogenic 30514
5 RIPK4 NM_020639.3(RIPK4):c.1074dup (p.Glu359Ter)duplication Pathogenic 585265 rs1569100177 21:43164162-43164163 21:41744002-41744003
6 RIPK4 NM_020639.3(RIPK4):c.488G>A (p.Gly163Asp)SNV Uncertain significance 561098 rs764278537 21:43171392-43171392 21:41751232-41751232

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

73
# 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

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 RIPK4 IRF6
2 11.08 TP63 IRF6
3 9.53 TP63 IRF6

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 TP63 IRF6

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 8.96 TP63 IRF6
2 transcription regulatory region DNA binding GO:0044212 8.62 TP63 IRF6

Sources for Bartsocas-Papas Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....