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BSTVS
MCID: BRS002
MIFTS: 48
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Beare-Stevenson Cutis Gyrata Syndrome (BSTVS)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Beare-Stevenson Cutis Gyrata Syndrome:
Characteristics:Orphanet epidemiological data:60
cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; OMIM:58
Inheritance:
autosomal dominant
Miscellaneous:
reported cases all sporadic increased paternal age early death in patients with cloverleaf skull HPO:33Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Skin diseases
ICD10:
35
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NIH Rare Diseases
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54
Beare-Stevenson cutis gyrata syndrome is a genetic condition characterized by skin abnormalities (cutis gyrata, which causes a furrowed and wrinkled appearance, and acanthosis nigricans) and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Beare-Stevenson cutis gyrata syndrome is caused by mutations in the FGFR2 gene. It is inherited in an autosomal dominant pattern, although all reported cases have resulted from new mutations in the gene and occurred in people with no history of the disorder in their family.
MalaCards based summary : Beare-Stevenson Cutis Gyrata Syndrome, also known as cutis gyrata syndrome of beare and stevenson, is related to saethre-chotzen syndrome and craniosynostosis, and has symptoms including respiratory distress An important gene associated with Beare-Stevenson Cutis Gyrata Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Apoptosis Pathway and mTOR signalling. Affiliated tissues include skin, bone and pancreas, and related phenotypes are malar flattening and ptosis Disease Ontology : 12 An autosomal dominant disease that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has material basis in heterozygous mutation in the FGFR2 gene on chromosome 10q26. Genetics Home Reference : 26 Beare-Stevenson cutis gyrata syndrome is a genetic disorder characterized by skin abnormalities and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. UniProtKB/Swiss-Prot : 76 Beare-Stevenson cutis gyrata syndrome: An autosomal dominant disease characterized by craniofacial anomalies, particularly craniosynostosis, and ear defects, cutis gyrata, acanthosis nigricans, anogenital anomalies, skin tags, and prominent umbilical stump. The skin furrows have a corrugated appearance and are widespread. Cutis gyrata variably affects the scalp, forehead, face, preauricular area, neck, trunk, hands, and feet. Wikipedia : 77 Beare–Stevenson cutis gyrata syndrome is a rare genetic disorder characterized by craniosynostosis... more...
Description from OMIM:
123790
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Human phenotypes related to Beare-Stevenson Cutis Gyrata Syndrome:60 33 (show top 50) (show all 53)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:123790UMLS symptoms related to Beare-Stevenson Cutis Gyrata Syndrome:respiratory distress GenomeRNAi Phenotypes related to Beare-Stevenson Cutis Gyrata Syndrome according to GeneCards Suite gene sharing:27
MGI Mouse Phenotypes related to Beare-Stevenson Cutis Gyrata Syndrome:47
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MalaCards organs/tissues related to Beare-Stevenson Cutis Gyrata Syndrome:42
Skin,
Bone,
Pancreas,
Eye,
Lung
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Articles related to Beare-Stevenson Cutis Gyrata Syndrome:(show all 13)
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Genes related to Beare-Stevenson Cutis Gyrata Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Beare-Stevenson Cutis Gyrata Syndrome:76
ClinVar genetic disease variations for Beare-Stevenson Cutis Gyrata Syndrome:6 (show top 50) (show all 146)
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Search
GEO
for disease gene expression data for Beare-Stevenson Cutis Gyrata Syndrome.
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Pathways related to Beare-Stevenson Cutis Gyrata Syndrome according to GeneCards Suite gene sharing:(show all 18)
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Cellular components related to Beare-Stevenson Cutis Gyrata Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Beare-Stevenson Cutis Gyrata Syndrome according to GeneCards Suite gene sharing:(show all 12)
Molecular functions related to Beare-Stevenson Cutis Gyrata Syndrome according to GeneCards Suite gene sharing:
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