BPS
MCID: BRT059
MIFTS: 46
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Bartsocas-Papas Syndrome (BPS)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Reproductive diseases, Skin diseases
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MalaCards integrated aliases for Bartsocas-Papas Syndrome:
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; HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Eye diseases Skin diseases Reproductive diseases Oral diseases
ICD10:
33
Orphanet: 58
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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 Apoptosis Modulation and Signaling and NF-kappaB Signaling. Affiliated tissues include bone, skin and eye, and related phenotypes are synostosis of joints and microcephaly 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... |
Human phenotypes related to Bartsocas-Papas Syndrome:58 31 (show top 50) (show all 51)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:263650MGI Mouse Phenotypes related to Bartsocas-Papas Syndrome:45
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MalaCards organs/tissues related to Bartsocas-Papas Syndrome:40
Bone,
Skin,
Eye,
Heart
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Articles related to Bartsocas-Papas Syndrome:(show all 43)
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ClinVar genetic disease variations for Bartsocas-Papas Syndrome:6 (show top 50) (show all 124)
UniProtKB/Swiss-Prot genetic disease variations for Bartsocas-Papas Syndrome:73
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Search
GEO
for disease gene expression data for Bartsocas-Papas Syndrome.
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Biological processes related to Bartsocas-Papas Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Bartsocas-Papas Syndrome according to GeneCards Suite gene sharing:
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