BSTVS
MCID: BRS002
MIFTS: 47

Beare-Stevenson Cutis Gyrata Syndrome (BSTVS) malady

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

Aliases & Classifications for Beare-Stevenson Cutis Gyrata Syndrome

Aliases & Descriptions for Beare-Stevenson Cutis Gyrata Syndrome:

Name: Beare-Stevenson Cutis Gyrata Syndrome 54 12 71 50 25 56 66 13 52 14
Cutis Gyrata Syndrome of Beare and Stevenson 50 25 66 29 69
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome 50 56
Cutis Gyrata Syndrome of Beare-Stevenson 71 25
Beare-Stevenson Syndrome 24 66
Cutis Gyrata - Acanthosis Nigricans - Craniosynostosis 50
Beare Stevenson Syndrome 50
Cutis Gyrata Syndrome 24
Bstvs 66

Characteristics:

Orphanet epidemiological data:

56
cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

HPO:

32
beare-stevenson cutis gyrata syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 123790
Disease Ontology 12 DOID:0050660
Orphanet 56 ORPHA1555
ICD10 via Orphanet 34 Q87.8
MedGen 40 C1852406

Summaries for Beare-Stevenson Cutis Gyrata Syndrome

NIH Rare Diseases : 50 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 cervicitis and chiari malformation, and has symptoms including respiratory distress, malar flattening and hypertelorism. An important gene associated with Beare-Stevenson Cutis Gyrata Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Signaling by FGFR2 and VEGF Signaling Pathway. Affiliated tissues include skin, bone and eye, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and limbs/digits/tail

Genetics Home Reference : 25 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 : 66 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.

Description from OMIM: 123790

Related Diseases for Beare-Stevenson Cutis Gyrata Syndrome

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

(show all 31)
id Related Disease Score Top Affiliating Genes
1 cervicitis 10.2
2 chiari malformation 10.2
3 familial porphyria cutanea tarda 10.0 FGFR2 FGFR3
4 hartsfield syndrome 10.0 FGFR2 FGFR3
5 pointer syndrome 10.0 FGFR2 FGFR3
6 cervical spinal canal and spinal cord meningioma 10.0 FGFR2 FGFR3
7 osteoglophonic dysplasia 10.0 FGFR2 FGFR3
8 aica-ribosiduria due to atic deficiency 10.0 FGFR2 FGFR3
9 crouzon syndrome with acanthosis nigricans 10.0 FGFR2 FGFR3
10 muenke syndrome 10.0 FGFR2 FGFR3
11 lingual-facial-buccal dyskinesia 10.0 FGFR2 FGFR3
12 sp7-related osteogenesis imperfecta 10.0 FGFR2 FGFR3
13 leg dermatosis 10.0 FGFR2 FGFR3
14 apert syndrome 10.0 FGFR2 FGFR3
15 thanatophoric dysplasia, type i 10.0 FGFR2 FGFR3
16 saddan 10.0 FGFR2 FGFR3
17 robinow-sorauf syndrome 10.0 FGFR2 FGFR3
18 bone structure disease 10.0 FGFR2 FGFR3
19 hypoparathyroidism 9.9 FGFR2 FGFR3
20 hypogonadotropic hypogonadism 2 with or without anosmia 9.9 FGFR2 FGFR3
21 testicular cancer 9.9 FGFR2 FGFR3
22 autosomal genetic disease 9.9 FGFR2 FGFR3
23 craniosynostosis 9.9
24 synostosis 9.9
25 dysostosis 9.9
26 fgfr-related craniosynostosis syndromes 9.9
27 cutaneous leishmaniasis 9.8 FGFR2 FGFR3
28 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 9.7 FGFR2 FGFR3 RAB23
29 scaphocephaly, maxillary retrusion, and mental retardation 9.7 FGFR2 FGFR3 RAB23
30 cervical cancer, somatic 9.7 FGFR2 FGFR3 RAB23
31 atrophy of testis 9.7 FGFR2 FGFR3 RAB23

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



Diseases related to Beare-Stevenson Cutis Gyrata Syndrome

Symptoms & Phenotypes for Beare-Stevenson Cutis Gyrata Syndrome

Symptoms by clinical synopsis from OMIM:

123790

Clinical features from OMIM:

123790

Human phenotypes related to Beare-Stevenson Cutis Gyrata Syndrome:

56 32 (show top 50) (show all 52)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory distress 56 32 Very frequent (99-80%) HP:0002098
2 malar flattening 56 32 Very frequent (99-80%) HP:0000272
3 hypertelorism 56 32 Occasional (29-5%) HP:0000316
4 hydrocephalus 56 32 Occasional (29-5%) HP:0000238
5 ptosis 56 32 Very frequent (99-80%) HP:0000508
6 hypertension 56 32 Occasional (29-5%) HP:0000822
7 narrow palate 56 32 Frequent (79-30%) HP:0000189
8 macrotia 56 32 Very frequent (99-80%) HP:0000400
9 depressed nasal bridge 56 32 Very frequent (99-80%) HP:0005280
10 umbilical hernia 56 32 Occasional (29-5%) HP:0001537
11 anteverted nares 56 32 Occasional (29-5%) HP:0000463
12 optic atrophy 56 32 Occasional (29-5%) HP:0000648
13 abnormality of vision 56 32 Occasional (29-5%) HP:0000504
14 subcutaneous nodule 56 32 Very frequent (99-80%) HP:0001482
15 abnormality of the nail 56 32 Occasional (29-5%) HP:0001597
16 cleft palate 56 32 Occasional (29-5%) HP:0000175
17 palmoplantar keratoderma 56 32 Very frequent (99-80%) HP:0000982
18 acanthosis nigricans 56 32 Very frequent (99-80%) HP:0000956
19 cloverleaf skull 56 32 Very frequent (99-80%) HP:0002676
20 dolichocephaly 56 32 Very frequent (99-80%) HP:0000268
21 hearing abnormality 56 32 Very frequent (99-80%) HP:0000364
22 cryptorchidism 56 32 Occasional (29-5%) HP:0000028
23 melanocytic nevus 56 32 Very frequent (99-80%) HP:0000995
24 abnormality of the pancreas 56 32 Very frequent (99-80%) HP:0001732
25 visceral angiomatosis 56 32 Very frequent (99-80%) HP:0100761
26 downslanted palpebral fissures 56 32 Very frequent (99-80%) HP:0000494
27 narrow mouth 56 32 Occasional (29-5%) HP:0000160
28 turricephaly 56 32 Very frequent (99-80%) HP:0000262
29 choanal atresia 56 32 Very frequent (99-80%) HP:0000453
30 reduced number of teeth 56 32 Very frequent (99-80%) HP:0009804
31 midface retrusion 56 32 Very frequent (99-80%) HP:0011800
32 proptosis 56 32 Very frequent (99-80%) HP:0000520
33 craniosynostosis 56 32 Frequent (79-30%) HP:0001363
34 thickened helices 56 32 Occasional (29-5%) HP:0000391
35 bifid scrotum 56 32 Frequent (79-30%) HP:0000048
36 anteriorly placed anus 56 32 Occasional (29-5%) HP:0001545
37 aplasia/hypoplasia of the earlobes 56 32 Very frequent (99-80%) HP:0009906
38 prominent scrotal raphe 56 32 Frequent (79-30%) HP:0003246
39 preauricular skin furrow 56 32 Very frequent (99-80%) HP:0004450
40 palmoplantar cutis gyrata 56 32 Very frequent (99-80%) HP:0007469
41 agenesis of corpus callosum 32 HP:0001274
42 global developmental delay 32 HP:0001263
43 abnormality of the eye 56 Occasional (29-5%)
44 abnormality of the skull 56 Very frequent (99-80%)
45 small nail 32 HP:0001792
46 abnormality of the face 56 Very frequent (99-80%)
47 low-set, posteriorly rotated ears 32 HP:0000368
48 cheekbone underdevelopment 56 Very frequent (99-80%)
49 choanal stenosis 32 HP:0000452
50 palmoplantar cutis laxa 32 HP:0007517

UMLS 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:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-10 9.43 FGFR3
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.43 RAB23
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.43 RAB23
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.43 RAB23 FGFR3
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.43 FGFR3
6 Decreased substrate adherent cell growth GR00193-A-2 8.8 FGFR2
7 Decreased substrate adherent cell growth GR00193-A-3 8.8 FGFR2 FGFR3

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.13 FGFR2 FGFR3 RAB23
2 vision/eye MP:0005391 8.8 FGFR2 FGFR3 RAB23

Drugs & Therapeutics for Beare-Stevenson Cutis Gyrata Syndrome

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

Genetic Tests for Beare-Stevenson Cutis Gyrata Syndrome

Genetic tests related to Beare-Stevenson Cutis Gyrata Syndrome:

id Genetic test Affiliating Genes
1 Cutis Gyrata Syndrome of Beare and Stevenson 29
2 Beare-Stevenson Syndrome 24 FGFR2

Anatomical Context for Beare-Stevenson Cutis Gyrata Syndrome

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

39
Skin, Bone, Eye, Pancreas

Publications for Beare-Stevenson Cutis Gyrata Syndrome

Articles related to Beare-Stevenson Cutis Gyrata Syndrome:

id Title Authors Year
1
Imaging findings of chronic subluxation of the os odontoideum and cervical myelopathy in a child with Beare-Stevenson cutis gyrata syndrome after surgery to the head and neck. ( 19816645 )
2009
2
Beare-Stevenson cutis gyrata syndrome: A new case of a c.1124Ca8^G (Y375C) mutation in the FGFR2 gene. ( 21479481 )
2008
3
What syndrome is this? Beare-Stevenson cutis gyrata syndrome. ( 12869163 )
2003
4
Beare-Stevenson cutis gyrata syndrome with Chiari malformation. ( 12181710 )
2002
5
Mutation in the FGFR2 gene in a Taiwanese patient with Beare- Stevenson cutis gyrata syndrome. ( 12000365 )
2002
6
A case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the fibroblast growth factor receptor 2 gene. ( 12145519 )
2002
7
Prenatal sonographic appearance of Beare-Stevenson cutis gyrata syndrome: two- and three-dimensional ultrasonographic findings. ( 11536267 )
2001
8
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. ( 8696350 )
1996
9
Beare-Stevenson cutis gyrata syndrome. ( 1519658 )
1992

Variations for Beare-Stevenson Cutis Gyrata Syndrome

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

66
id Symbol AA change Variation ID SNP ID
1 FGFR2 p.Ser372Cys VAR_017274 rs121913477
2 FGFR2 p.Tyr375Cys VAR_017275 rs121913478

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FGFR2 NM_000141.4(FGFR2): c.1124A> G (p.Tyr375Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913478 GRCh37 Chromosome 10, 123274794: 123274794
2 FGFR2 NM_000141.4(FGFR2): c.1115C> G (p.Ser372Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913477 GRCh37 Chromosome 10, 123274803: 123274803
3 FGFR2 NG_012449.2: g.83400_83462del deletion Pathogenic

Expression for Beare-Stevenson Cutis Gyrata Syndrome

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

Pathways for Beare-Stevenson Cutis Gyrata Syndrome

GO Terms for Beare-Stevenson Cutis Gyrata Syndrome

Cellular components related to Beare-Stevenson Cutis Gyrata Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 8.8 FGFR2 FGFR3 RAB23

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.52 FGFR2 FGFR3
2 protein autophosphorylation GO:0046777 9.51 FGFR2 FGFR3
3 peptidyl-tyrosine phosphorylation GO:0018108 9.49 FGFR2 FGFR3
4 phosphatidylinositol-mediated signaling GO:0048015 9.48 FGFR2 FGFR3
5 phosphatidylinositol phosphorylation GO:0046854 9.46 FGFR2 FGFR3
6 positive regulation of MAPK cascade GO:0043410 9.43 FGFR2 FGFR3
7 fibroblast growth factor receptor signaling pathway GO:0008543 9.4 FGFR2 FGFR3
8 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.37 FGFR2 FGFR3
9 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.32 FGFR2 FGFR3
10 bone mineralization GO:0030282 9.26 FGFR2 FGFR3
11 bone morphogenesis GO:0060349 9.16 FGFR2 FGFR3
12 positive regulation of phospholipase activity GO:0010518 8.96 FGFR2 FGFR3
13 endochondral bone growth GO:0003416 8.62 FGFR2 FGFR3

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

id Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 9.43 FGFR2 FGFR3
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.4 FGFR2 FGFR3
3 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.37 FGFR2 FGFR3
4 nucleotide binding GO:0000166 9.33 FGFR2 FGFR3 RAB23
5 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.32 FGFR2 FGFR3
6 1-phosphatidylinositol-3-kinase activity GO:0016303 9.26 FGFR2 FGFR3
7 fibroblast growth factor binding GO:0017134 8.96 FGFR2 FGFR3
8 fibroblast growth factor-activated receptor activity GO:0005007 8.62 FGFR2 FGFR3

Sources for Beare-Stevenson Cutis Gyrata Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....