MCID: BRS002
MIFTS: 54

Beare-Stevenson Cutis Gyrata Syndrome malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Beare-Stevenson Cutis Gyrata Syndrome

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Aliases & Descriptions for Beare-Stevenson Cutis Gyrata Syndrome:

Name: Beare-Stevenson Cutis Gyrata Syndrome 49 10 11 68 45 23 47 12 51 67
Cutis Gyrata Syndrome of Beare and Stevenson 45 23 67 24 65
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome 45 51
Cutis Gyrata Syndrome of Beare-Stevenson 68 23
Beare-Stevenson Syndrome 22 67
 
Cutis Gyrata - Acanthosis Nigricans - Craniosynostosis 45
Beare Stevenson Syndrome 45
Cutis Gyrata Syndrome 22
Bstvs 67

Characteristics:

Orphanet epidemiological data:

51
beare-stevenson cutis gyrata syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

61
beare-stevenson cutis gyrata syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 123790
Disease Ontology10 DOID:0050660
Orphanet51 1555
ICD10 via Orphanet28 Q87.8
MedGen34 C1852406
UMLS65 C1852406

Summaries for Beare-Stevenson Cutis Gyrata Syndrome

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NIH Rare Diseases:45 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. last updated: 3/26/2015

MalaCards based summary: Beare-Stevenson Cutis Gyrata Syndrome, also known as cutis gyrata syndrome of beare and stevenson, is related to osteoporosis and cystic fibrosis, and has symptoms including visceral angiomatosis, hypoplasia of the zygomatic bone and aplasia/hypoplasia of the earlobes. An important gene associated with Beare-Stevenson Cutis Gyrata Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways are Endochondral Ossification and Central carbon metabolism in cancer. Affiliated tissues include skin, bone and testes, and related mouse phenotypes are integument and limbs/digits/tail.

UniProtKB/Swiss-Prot:67 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.

Genetics Home Reference:23 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.

Description from OMIM:49 123790

Related Diseases for Beare-Stevenson Cutis Gyrata Syndrome

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Diseases related to Beare-Stevenson Cutis Gyrata Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1osteoporosis10.6
2cystic fibrosis10.6
3lymphoma10.6
4cutaneous t cell lymphoma10.6
5dysentery10.6
6retinitis10.6
7diabetic macular edema10.6
8hypoparathyroidism10.3
9vestibular nystagmus10.3
10pfeiffer syndrome type 1, 2 and 310.1FGFR1, FGFR2
11loeys-dietz syndrome10.1FGFR1, FGFR2
12vulvovaginal candidiasis10.1FGFR1, FGFR2
13cyclotropia10.0FGFR2, FGFR3
14slc16a1-related hyperinsulinism10.0FGFR2, FGFR3
15bronchogenic lung adenocarcinoma10.0FGFR1, FGFR2
16tenosynovial giant cell tumor10.0FGFR2, FGFR3
17myasthenic syndrome, congenital, 2a, slow-channel10.0FGFR1, FGFR2
18adult astrocytic tumour10.0FGFR1, FGFR3
19hypochondroplasia10.0FGFR2, FGFR3
20asphyxiating thoracic dystrophy9.9FGFR1, FGFR2
21autosomal recessive disease9.9FGFR2, FGFR3
22giant cell glioblastoma9.9FGFR1, FGFR3
23acute laryngopharyngitis9.8FGFR2, FGFR3
24plagiocephaly and x-linked mental retardation9.8FGFR1, FGFR2, FGFR3
25flna-related periventricular nodular heterotopia9.8FGFR1, FGFR2, FGFR3
26bladder cancer, somatic9.8FGFR1, FGFR2, FGFR3
27hypogonadotropic hypogonadism 2 with or without anosmia9.8FGFR1, FGFR2, FGFR3
28thanatophoric dysplasia, type i9.8FGFR1, FGFR2, FGFR3
29antley-bixler syndrome without genital anomalies or disordered steroidogenesis9.8FGFR1, FGFR2, FGFR3
30beare-stevenson cutis gyrata syndrome9.8FGFR1, FGFR2, FGFR3
31bone deterioration disease9.7FGFR1, FGFR2, FGFR3
32thanatophoric dysplasia, type ii9.7FGFR1, FGFR2, FGFR3
33craniosynostosis, type 19.7FGFR1, FGFR2, FGFR3
34jackson-weiss syndrome9.7FGFR1, FGFR2, FGFR3
35critical limb ischemia9.7FGFR1, FGFR2, FGFR3
36bardet-biedl syndrome9.7FGFR2, FGFR3
37poland syndrome9.5FGFR1, FGFR2, FGFR3, RAB23
38botulism9.4FGFR1, FGFR2, FGFR3, RAB23
39diverticulitis of colon9.3FGFR1, FGFR2, FGFR3, FGFR4
40crouzon syndrome with acanthosis nigricans9.3FGFR1, FGFR2, FGFR3, FGFR4
41apert syndrome8.9FGFR1, FGFR2, FGFR3, FGFR4, RAB23

Graphical network of the top 20 diseases related to Beare-Stevenson Cutis Gyrata Syndrome:



Diseases related to beare-stevenson cutis gyrata syndrome

Symptoms for Beare-Stevenson Cutis Gyrata Syndrome

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Symptoms by clinical synopsis from OMIM:

123790

Clinical features from OMIM:

123790

Symptoms:

 51 (show all 42)
  • skull/cranial anomalies
  • turricephaly/oxycephaly/acrocephaly
  • dolichocephaly/scaphocephaly
  • face/facial anomalies
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • proptosis/exophthalmos
  • mid-facial hypoplasia/short/small midface
  • depressed premaxillary region/midface
  • flat cheek bones/malar hypoplasia
  • ptosis
  • depressed nasal bridge
  • choanal atresia
  • anodontia/oligodontia/hypodontia
  • anomalies of ear and hearing
  • long/large ear
  • small/hypoplastic/adherent/absent ear lobe
  • anomalies of skin, subcutaneous tissue and mucosae
  • palmoplantar hyperkeratosis/keratoderma
  • pigmented naevi/naevus pigmentosus/lentigo
  • acanthosis nigricans
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • structural anomalies of the pancreas
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • visceral angiomatosis (excluding skin)
  • autosomal dominant inheritance
  • craniostenosis/craniosynostosis/sutural synostosis
  • high vaulted/narrow palate
  • horizontal folds on scrotum
  • bifid scrotum
  • hypertelorism
  • anomalies of eyes and vision
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • anteverted nares/nostrils
  • microstomia/little mouth
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • helix thickened/sculpted
  • umbilical hernia
  • nails anomalies
  • anus ectopia/anteposition/malposition
  • chronic arterial hypertension
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hydrocephaly

HPO human phenotypes related to Beare-Stevenson Cutis Gyrata Syndrome:

(show all 54)
id Description Frequency HPO Source Accession
1 visceral angiomatosis hallmark (90%) HP:0100761
2 hypoplasia of the zygomatic bone hallmark (90%) HP:0010669
3 aplasia/hypoplasia of the earlobes hallmark (90%) HP:0009906
4 reduced number of teeth hallmark (90%) HP:0009804
5 depressed nasal bridge hallmark (90%) HP:0005280
6 respiratory insufficiency hallmark (90%) HP:0002093
7 abnormality of the pancreas hallmark (90%) HP:0001732
8 melanocytic nevus hallmark (90%) HP:0000995
9 palmoplantar keratoderma hallmark (90%) HP:0000982
10 acanthosis nigricans hallmark (90%) HP:0000956
11 proptosis hallmark (90%) HP:0000520
12 ptosis hallmark (90%) HP:0000508
13 downslanted palpebral fissures hallmark (90%) HP:0000494
14 choanal atresia hallmark (90%) HP:0000453
15 macrotia hallmark (90%) HP:0000400
16 hearing abnormality hallmark (90%) HP:0000364
17 malar flattening hallmark (90%) HP:0000272
18 dolichocephaly hallmark (90%) HP:0000268
19 craniosynostosis typical (50%) HP:0001363
20 bifid scrotum typical (50%) HP:0000048
21 abnormality of the nail occasional (7.5%) HP:0001597
22 umbilical hernia occasional (7.5%) HP:0001537
23 hypertension occasional (7.5%) HP:0000822
24 optic atrophy occasional (7.5%) HP:0000648
25 anteverted nares occasional (7.5%) HP:0000463
26 thickened helices occasional (7.5%) HP:0000391
27 hypertelorism occasional (7.5%) HP:0000316
28 hydrocephalus occasional (7.5%) HP:0000238
29 cleft palate occasional (7.5%) HP:0000175
30 narrow mouth occasional (7.5%) HP:0000160
31 cryptorchidism occasional (7.5%) HP:0000028
32 midface retrusion HP:0011800
33 palmoplantar cutis laxa HP:0007517
34 preauricular skin furrow HP:0004450
35 prominent scrotal raphe HP:0003246
36 cloverleaf skull HP:0002676
37 respiratory distress HP:0002098
38 small nail HP:0001792
39 anteriorly placed anus HP:0001545
40 limited elbow extension HP:0001377
41 craniosynostosis HP:0001363
42 agenesis of corpus callosum HP:0001274
43 global developmental delay HP:0001263
44 acanthosis nigricans HP:0000956
45 proptosis HP:0000520
46 downslanted palpebral fissures HP:0000494
47 choanal atresia HP:0000453
48 choanal stenosis HP:0000452
49 low-set, posteriorly rotated ears HP:0000368
50 hypertelorism HP:0000316
51 malar flattening HP:0000272
52 hydrocephalus HP:0000238
53 narrow palate HP:0000189
54 bifid scrotum HP:0000048

Drugs & Therapeutics for Beare-Stevenson Cutis Gyrata Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Beare-Stevenson Cutis Gyrata Syndrome

Genetic Tests for Beare-Stevenson Cutis Gyrata Syndrome

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Genetic tests related to Beare-Stevenson Cutis Gyrata Syndrome:

id Genetic test Affiliating Genes
1 Beare-Stevenson Syndrome22 FGFR2

Anatomical Context for Beare-Stevenson Cutis Gyrata Syndrome

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MalaCards organs/tissues related to Beare-Stevenson Cutis Gyrata Syndrome:

33
Skin, Bone, Testes, Pancreas, Eye, Lung

Animal Models for Beare-Stevenson Cutis Gyrata Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Beare-Stevenson Cutis Gyrata Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.6FGFR1, FGFR2, FGFR3, RAB23
2MP:00053718.6FGFR1, FGFR2, FGFR3, RAB23
3MP:00053778.6FGFR1, FGFR2, FGFR3
4MP:00053918.6FGFR1, FGFR2, FGFR3, RAB23
5MP:00053898.3FGFR1, FGFR2, FGFR3, FGFR4
6MP:00053907.5FGFR1, FGFR2, FGFR3, FGFR4, RAB23

Publications for Beare-Stevenson Cutis Gyrata Syndrome

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Articles related to Beare-Stevenson Cutis Gyrata Syndrome:

idTitleAuthorsYear
1
Bromodeoxyuridine does not contribute to sister chromatid exchange events in normal or Bloom syndrome cells. (27185886)
2016
2
Giant &quot;Panfacial&quot; Chordoma Involving Skull Base With Intracranial Invasion. (25364972)
2014
3
Daidzein supplementation decreases serum triglyceride and uric acid concentrations in hypercholesterolemic adults with the effect on triglycerides being greater in those with the GA compared with the GG genotype of ESR-I^ RsaI. (24225450)
2014
4
Electronic nose technology for detection of invasive pulmonary aspergillosis in prolonged chemotherapy-induced neutropenia: a proof-of-principle study. (23467602)
2013
5
Human PIH1 associates with histone H4 to mediate the glucose-dependent enhancement of pre-rRNA synthesis. (22368283)
2012
6
Discovery of potent and reversible monoacylglycerol lipase inhibitors. (19875078)
2009
7
Statins fail to improve outcome in experimental cerebral malaria and potentiate Toll-like receptor-mediated cytokine production by murine macrophages. (19815878)
2009
8
Structure of Alzheimer's disease amyloid precursor protein copper- binding domain at atomic resolution. (17909280)
2007
9
Fibrous dysplasia with cartilaginous differentiation (&quot;fibrocartilaginous dysplasia&quot;): a review, with an illustrative case followed for 18 years. (14647989)
2004

Variations for Beare-Stevenson Cutis Gyrata Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Beare-Stevenson Cutis Gyrata Syndrome:

67
id Symbol AA change Variation ID SNP ID
1FGFR2p.Ser372CysVAR_017274
2FGFR2p.Tyr375CysVAR_017275

Clinvar genetic disease variations for Beare-Stevenson Cutis Gyrata Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR2NM_000141.4(FGFR2): c.1124A> G (p.Tyr375Cys)single nucleotide variantPathogenicrs121913478GRCh37Chr 10, 123274794: 123274794
2FGFR2NM_000141.4(FGFR2): c.1115C> G (p.Ser372Cys)single nucleotide variantPathogenicrs121913477GRCh37Chr 10, 123274803: 123274803
3FGFR2FGFR2, 63-BP DEL, NT1506deletionPathogenic

Expression for genes affiliated with Beare-Stevenson Cutis Gyrata Syndrome

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Search GEO for disease gene expression data for Beare-Stevenson Cutis Gyrata Syndrome.

Pathways for genes affiliated with 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 40)
idSuper pathwaysScoreTop Affiliating Genes
19.3FGFR1, FGFR3
28.9FGFR1, FGFR2, FGFR3
38.9FGFR1, FGFR2, FGFR3
48.9FGFR1, FGFR2, FGFR3
58.7FGFR1, FGFR2, FGFR4
68.6FGFR2, FGFR3, FGFR4
78.5FGFR1, FGFR3, FGFR4
8
Show member pathways
8.1FGFR1, FGFR2, FGFR3, FGFR4
9
Show member pathways
8.1FGFR1, FGFR2, FGFR3, FGFR4
10
Show member pathways
8.1FGFR1, FGFR2, FGFR3, FGFR4
11
Show member pathways
8.1FGFR1, FGFR2, FGFR3, FGFR4
12
Show member pathways
8.1FGFR1, FGFR2, FGFR3, FGFR4
13
Show member pathways
8.1FGFR1, FGFR2, FGFR3, FGFR4
14
Show member pathways
8.1FGFR1, FGFR2, FGFR3, FGFR4
15
Show member pathways
8.1FGFR1, FGFR2, FGFR3, FGFR4
16
Show member pathways
8.1FGFR1, FGFR2, FGFR3, FGFR4
17
Show member pathways
8.1FGFR1, FGFR2, FGFR3, FGFR4
18
Show member pathways
8.1FGFR1, FGFR2, FGFR3, FGFR4
19
Show member pathways
8.1FGFR1, FGFR2, FGFR3, FGFR4
20
Show member pathways
8.1FGFR1, FGFR2, FGFR3, FGFR4
21
Show member pathways
8.1FGFR1, FGFR2, FGFR3, FGFR4
22
Show member pathways
8.1FGFR1, FGFR2, FGFR3, FGFR4
238.1FGFR1, FGFR2, FGFR3, FGFR4
24
Show member pathways
8.1FGFR1, FGFR2, FGFR3, FGFR4
25
Show member pathways
8.1FGFR1, FGFR2, FGFR3, FGFR4
26
Show member pathways
8.1FGFR1, FGFR2, FGFR3, FGFR4
27
Show member pathways
8.1FGFR1, FGFR2, FGFR3, FGFR4
288.1FGFR1, FGFR2, FGFR3, FGFR4
298.1FGFR1, FGFR2, FGFR3, FGFR4
30
Show member pathways
8.1FGFR1, FGFR2, FGFR3, FGFR4
31
Show member pathways
8.1FGFR1, FGFR2, FGFR3, FGFR4
32
Show member pathways
8.1FGFR1, FGFR2, FGFR3, FGFR4
33
Show member pathways
8.1FGFR1, FGFR2, FGFR3, FGFR4
34
Show member pathways
8.1FGFR1, FGFR2, FGFR3, FGFR4
358.1FGFR1, FGFR2, FGFR3, FGFR4
368.1FGFR1, FGFR2, FGFR3, FGFR4
37
Show member pathways
8.1FGFR1, FGFR2, FGFR3, FGFR4
38
Show member pathways
8.1FGFR1, FGFR2, FGFR3, FGFR4
39
Show member pathways
8.1FGFR1, FGFR2, FGFR3, FGFR4
40
Show member pathways
8.1FGFR1, FGFR2, FGFR3, FGFR4

GO Terms for genes affiliated with Beare-Stevenson Cutis Gyrata Syndrome

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Biological processes related to Beare-Stevenson Cutis Gyrata Syndrome according to GeneCards Suite gene sharing:

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.2FGFR1, FGFR2
2lung-associated mesenchyme developmentGO:006048410.1FGFR1, FGFR2
3positive regulation of cell cycleGO:004578710.0FGFR1, FGFR2
4positive regulation of mesenchymal cell proliferationGO:000205310.0FGFR1, FGFR2
5positive regulation of cardiac muscle cell proliferationGO:006004510.0FGFR1, FGFR2
6skeletal system morphogenesisGO:004870510.0FGFR1, FGFR2
7branching involved in salivary gland morphogenesisGO:00604459.9FGFR1, FGFR2
8positive regulation of MAPK cascadeGO:00434109.9FGFR2, FGFR3
9positive regulation of ERK1 and ERK2 cascadeGO:00703749.8FGFR2, FGFR3
10bone morphogenesisGO:00603499.7FGFR2, FGFR3
11bone mineralizationGO:00302829.7FGFR2, FGFR3
12positive regulation of phospholipase activityGO:00105189.5FGFR1, FGFR2, FGFR3
13lung developmentGO:00303249.5FGFR1, FGFR2
14orbitofrontal cortex developmentGO:00217699.5FGFR1, FGFR2
15epidermal growth factor receptor signaling pathwayGO:00071739.4FGFR1, FGFR2, FGFR3
16MAPK cascadeGO:00001659.2FGFR1, FGFR2, FGFR3
17activation of MAPKK activityGO:00001869.0FGFR1, FGFR2, FGFR4
18neurotrophin TRK receptor signaling pathwayGO:00480118.8FGFR1, FGFR2, FGFR3
19positive regulation of cell proliferationGO:00082848.7FGFR1, FGFR3, FGFR4
20regulation of phosphatidylinositol 3-kinase signalingGO:00140668.6FGFR1, FGFR2, FGFR3, FGFR4
21phosphatidylinositol-mediated signalingGO:00480158.6FGFR1, FGFR2, FGFR3, FGFR4
22phosphatidylinositol-3-phosphate biosynthetic processGO:00360928.6FGFR1, FGFR2, FGFR3, FGFR4
23protein autophosphorylationGO:00467778.5FGFR1, FGFR2, FGFR3, FGFR4
24fibroblast growth factor receptor signaling pathwayGO:00085438.5FGFR1, FGFR2, FGFR3, FGFR4
25Ras protein signal transductionGO:00072658.4FGFR1, FGFR2, FGFR3, FGFR4
26vascular endothelial growth factor receptor signaling pathwayGO:00480108.4FGFR1, FGFR2, FGFR3, FGFR4
27insulin receptor signaling pathwayGO:00082868.4FGFR1, FGFR2, FGFR3, FGFR4
28axon guidanceGO:00074118.1FGFR1, FGFR2, FGFR3, FGFR4
29innate immune responseGO:00450877.8FGFR1, FGFR2, FGFR3, FGFR4

Molecular functions related to Beare-Stevenson Cutis Gyrata Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.3FGFR3, FGFR4
2fibroblast growth factor-activated receptor activityGO:00050079.1FGFR2, FGFR3, FGFR4
3protein tyrosine kinase activityGO:00047138.1FGFR1, FGFR2, FGFR3, FGFR4

Sources for Beare-Stevenson Cutis Gyrata Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet