MCID: BRS002
MIFTS: 48

Beare-Stevenson Cutis Gyrata Syndrome

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

Aliases & Classifications for Beare-Stevenson Cutis Gyrata Syndrome

MalaCards integrated aliases for Beare-Stevenson Cutis Gyrata Syndrome:

Name: Beare-Stevenson Cutis Gyrata Syndrome 53 12 72 49 24 55 71 13 51 14
Cutis Gyrata Syndrome of Beare and Stevenson 53 49 24 71 28 69
Beare-Stevenson Syndrome 53 71 36
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome 49 55
Bstvs 53 71
Cutis Gyrata - Acanthosis Nigricans - Craniosynostosis 49
Cutis Gyrata Syndrome of Beare-Stevenson 24
Beare Stevenson Syndrome 49

Characteristics:

Orphanet epidemiological data:

55
cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
reported cases all sporadic
increased paternal age
early death in patients with cloverleaf skull


HPO:

31
beare-stevenson cutis gyrata syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Beare-Stevenson Cutis Gyrata Syndrome

NIH Rare Diseases : 49 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 dysostosis and craniosynostosis, 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 mTOR signalling and Endocytosis. Affiliated tissues include skin, bone and eye, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Genetics Home Reference : 24 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 : 71 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

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 via clinical synopsis from OMIM:

53
Respiratory Lung:
respiratory distress

Neurologic Central Nervous System:
hydrocephalus
developmental delay
agenesis of the corpus callosum

Skin Nails Hair Skin:
acanthosis nigricans
cutis gyrata
cutaneous and mucosal skin tags
furrowed palms and soles

Head And Neck Ears:
low-set, posteriorly rotated ears
preauricular skin furrows

Genitourinary External Genitalia Male:
bifid scrotum
prominent scrotal raphe

Skeletal Limbs:
limited elbow extension

Growth Other:
normal intrauterine growth

Skin Nails Hair Nails:
small nails

Head And Neck Eyes:
hypertelorism
proptosis
downslanting palpebral fissures

Head And Neck Mouth:
narrow palate

Skeletal Skull:
cloverleaf skull
craniosynostosis

Head And Neck Nose:
choanal atresia
choanal stenosis

Abdomen External Features:
anteriorly placed anus
prominent umbilical stump

Head And Neck Face:
midface hypoplasia

Genitourinary External Genitalia Female:
rugose labia majora


Clinical features from OMIM:

123790

Human phenotypes related to Beare-Stevenson Cutis Gyrata Syndrome:

55 31 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory distress 55 31 hallmark (90%) Very frequent (99-80%) HP:0002098
2 malar flattening 55 31 hallmark (90%) Very frequent (99-80%) HP:0000272
3 hypertelorism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000316
4 hydrocephalus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000238
5 ptosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000508
6 hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0000822
7 narrow palate 55 31 frequent (33%) Frequent (79-30%) HP:0000189
8 macrotia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000400
9 depressed nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0005280
10 umbilical hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001537
11 anteverted nares 55 31 occasional (7.5%) Occasional (29-5%) HP:0000463
12 optic atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000648
13 abnormality of vision 55 31 occasional (7.5%) Occasional (29-5%) HP:0000504
14 subcutaneous nodule 55 31 hallmark (90%) Very frequent (99-80%) HP:0001482
15 abnormality of the nail 55 31 occasional (7.5%) Occasional (29-5%) HP:0001597
16 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
17 palmoplantar keratoderma 55 31 hallmark (90%) Very frequent (99-80%) HP:0000982
18 acanthosis nigricans 55 31 hallmark (90%) Very frequent (99-80%) HP:0000956
19 cloverleaf skull 55 31 hallmark (90%) Very frequent (99-80%) HP:0002676
20 dolichocephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000268
21 hearing abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0000364
22 cryptorchidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000028
23 melanocytic nevus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000995
24 abnormality of the pancreas 55 31 hallmark (90%) Very frequent (99-80%) HP:0001732
25 visceral angiomatosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0100761
26 downslanted palpebral fissures 55 31 hallmark (90%) Very frequent (99-80%) HP:0000494
27 narrow mouth 55 31 occasional (7.5%) Occasional (29-5%) HP:0000160
28 turricephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000262
29 choanal atresia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000453
30 reduced number of teeth 55 31 hallmark (90%) Very frequent (99-80%) HP:0009804
31 midface retrusion 55 31 hallmark (90%) Very frequent (99-80%) HP:0011800
32 proptosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000520
33 craniosynostosis 55 31 frequent (33%) Frequent (79-30%) HP:0001363
34 thickened helices 55 31 occasional (7.5%) Occasional (29-5%) HP:0000391
35 bifid scrotum 55 31 frequent (33%) Frequent (79-30%) HP:0000048
36 anteriorly placed anus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001545
37 aplasia/hypoplasia of the earlobes 55 31 hallmark (90%) Very frequent (99-80%) HP:0009906
38 prominent scrotal raphe 55 31 frequent (33%) Frequent (79-30%) HP:0003246
39 preauricular skin furrow 55 31 hallmark (90%) Very frequent (99-80%) HP:0004450
40 palmoplantar cutis gyrata 55 31 hallmark (90%) Very frequent (99-80%) HP:0007469
41 agenesis of corpus callosum 31 HP:0001274
42 global developmental delay 31 HP:0001263
43 abnormality of the eye 55 Occasional (29-5%)
44 abnormality of the skull 55 Very frequent (99-80%)
45 small nail 31 HP:0001792
46 abnormality of the face 55 Very frequent (99-80%)
47 low-set, posteriorly rotated ears 31 HP:0000368
48 cheekbone underdevelopment 55 Very frequent (99-80%)
49 choanal stenosis 31 HP:0000452
50 limited elbow extension 31 HP:0001377

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:

25
# 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 FGFR3 RAB23
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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 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:

# Genetic test Affiliating Genes
1 Cutis Gyrata Syndrome of Beare and Stevenson 28 FGFR2

Anatomical Context for Beare-Stevenson Cutis Gyrata Syndrome

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

38
Skin, Bone, Eye, Pancreas

Publications for Beare-Stevenson Cutis Gyrata Syndrome

Articles related to Beare-Stevenson Cutis Gyrata Syndrome:

# 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:

71
# 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
# 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:

# 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 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.51 FGFR2 FGFR3
2 protein autophosphorylation GO:0046777 9.49 FGFR2 FGFR3
3 peptidyl-tyrosine phosphorylation GO:0018108 9.48 FGFR2 FGFR3
4 positive regulation of protein kinase B signaling GO:0051897 9.46 FGFR2 FGFR3
5 phosphatidylinositol phosphorylation GO:0046854 9.43 FGFR2 FGFR3
6 positive regulation of MAPK cascade GO:0043410 9.4 FGFR2 FGFR3
7 fibroblast growth factor receptor signaling pathway GO:0008543 9.37 FGFR2 FGFR3
8 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.32 FGFR2 FGFR3
9 bone mineralization GO:0030282 9.26 FGFR2 FGFR3
10 bone morphogenesis GO:0060349 9.16 FGFR2 FGFR3
11 positive regulation of phospholipase activity GO:0010518 8.96 FGFR2 FGFR3
12 endochondral bone growth GO:0003416 8.62 FGFR2 FGFR3

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

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....