BSTVS
MCID: BRS002
MIFTS: 49

Beare-Stevenson Cutis Gyrata Syndrome (BSTVS)

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

Aliases & Classifications for Beare-Stevenson Cutis Gyrata Syndrome

MalaCards integrated aliases for Beare-Stevenson Cutis Gyrata Syndrome:

Name: Beare-Stevenson Cutis Gyrata Syndrome 57 12 73 20 43 58 72 29 13 54 6 15
Cutis Gyrata Syndrome of Beare and Stevenson 57 20 43 72 70
Beare-Stevenson Syndrome 57 72 36 39
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome 20 58
Bstvs 57 72
Cutis Gyrata - Acanthosis Nigricans - Craniosynostosis 20
Cutis Gyrata Syndrome of Beare-Stevenson 43
Beare Stevenson Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 20-May-2021)
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:

Orphanet: 58  
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Beare-Stevenson Cutis Gyrata Syndrome

MedlinePlus Genetics : 43 Beare-Stevenson cutis gyrata syndrome is a genetic disorder that typically features 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.Many of the characteristic facial features of Beare-Stevenson cutis gyrata syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a cloverleaf-shaped skull, wide-set and bulging eyes, ear abnormalities, and an underdeveloped upper jaw. Early fusion of the skull bones also affects the growth of the brain, causing delayed development and intellectual disability.A skin abnormality called cutis gyrata is also characteristic of this disorder. The skin has a furrowed and wrinkled appearance, particularly on the face, near the ears, and on the palms and soles of the feet. Additionally, thick, dark, velvety areas of skin (acanthosis nigricans) are sometimes found on the hands and feet and in the genital region.Additional signs and symptoms of Beare-Stevenson cutis gyrata syndrome can include a blockage of the nasal passages (choanal atresia), a malformation of the airways (tracheal cartilaginous sleeve), overgrowth of the umbilical stump (tissue that normally falls off shortly after birth, leaving the belly button), and abnormalities of the genitalia and anus. The medical complications associated with this condition are often life-threatening in infancy or early childhood.

MalaCards based summary : Beare-Stevenson Cutis Gyrata Syndrome, also known as cutis gyrata syndrome of beare and stevenson, is related to acanthosis nigricans 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 RhoGDI Pathway and mTOR signalling. Affiliated tissues include skin, bone and pancreas, and related phenotypes are ptosis and depressed nasal bridge

Disease Ontology : 12 A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has material basis in heterozygous mutation in the FGFR2 gene on chromosome 10q26.

GARD : 20 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.

OMIM® : 57 Beare-Stevenson cutis gyrata syndrome (BSTVS) is an autosomal dominant condition characterized by the furrowed skin disorder of cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities, and early death (summary by Przylepa et al., 1996). (123790) (Updated 20-May-2021)

KEGG : 36 Beare-Stevenson cutis gyrata syndrome is an extremely rare autosomal dominant condition characterized by the furrowed skin disorder called cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities and early death. Mutations of FGFR2 have been identified.

UniProtKB/Swiss-Prot : 72 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 : 73 Beare-Stevenson cutis gyrata syndrome is a rare genetic disorder characterized by craniosynostosis... more...

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 top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 acanthosis nigricans 31.2 FGFR3 FGFR2
2 craniosynostosis 30.9 FGFR3 FGFR2 EFNB1
3 apert syndrome 30.4 FGFR3 FGFR2 EFNB1
4 synostosis 30.3 FGFR3 FGFR2 EFNB1
5 muenke syndrome 30.1 FGFR3 FGFR2 EFNB1
6 saethre-chotzen syndrome 30.1 FGFR3 FGFR2 EFNB1
7 dysostosis 30.0 FGFR3 FGFR2 EFNB1
8 crouzon syndrome 29.8 LINC01163 FGFR3 FGFR2 FGF16 EFNB1
9 skin tag 10.6
10 endometrial cancer 10.5
11 cleft palate, isolated 10.4
12 hydrocephalus 10.4
13 polyhydramnios 10.4
14 exophthalmos 10.4
15 chiari malformation 10.4
16 hypospadias 10.3
17 fgfr craniosynostosis syndromes 10.2 FGFR3 FGFR2
18 hypertelorism 10.2
19 strabismus 10.2
20 teeth present at birth 10.2
21 choanal atresia, posterior 10.2
22 ptosis 10.2
23 communicating hydrocephalus 10.2
24 ectodermal dysplasia 10.2
25 tracheal stenosis 10.2
26 mechanical strabismus 10.2
27 overgrowth syndrome 10.2
28 plagiocephaly 10.2 FGFR3 FGFR2
29 syndromic craniosynostosis 10.2 FGFR3 FGFR2
30 testicular spermatocytic seminoma 10.2 FGFR3 FGFR2
31 hypertelorism, microtia, facial clefting syndrome 10.2 FGFR3 FGFR2
32 dacryocystocele 10.1 FGFR3 FGFR2
33 chronic inflammation of lacrimal passage 10.1 FGFR3 FGFR2
34 luteoma 10.1 FGFR3 FGFR2
35 acanthoma 10.1 FGFR3 FGFR2
36 osteoglophonic dysplasia 10.1 FGFR3 FGFR2
37 exposure keratitis 10.1 FGFR2 EFNB1
38 thanatophoric dysplasia, type i 10.1 FGFR3 FGFR2
39 pigmentation disease 10.1 FGFR3 FGFR2
40 hypochondroplasia 10.0 FGFR3 FGFR2
41 radioulnar synostosis 10.0 FGFR3 FGFR2
42 craniosynostosis 1 10.0 FGFR3 FGFR2
43 carpenter syndrome 1 9.9 FGFR3 FGFR2
44 hemifacial hyperplasia 9.9 FGFR3 FGFR2 EFNB1
45 achondroplasia, severe, with developmental delay and acanthosis nigricans 9.9 FGFR3 FGFR2 FGF16
46 deafness, autosomal recessive 71 9.9 FGFR3 FGFR2 FGF16
47 lacrimoauriculodentodigital syndrome 9.9 FGFR3 FGFR2 FGF16
48 bone development disease 9.9 FGFR3 FGFR2 EFNB1
49 pfeiffer syndrome 9.9 FGFR3 FGFR2 EFNB1
50 antley-bixler syndrome 9.8 FGFR3 FGFR2

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

Human phenotypes related to Beare-Stevenson Cutis Gyrata Syndrome:

58 31 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
2 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
3 macrotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000400
4 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
5 hearing abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0000364
6 melanocytic nevus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000995
7 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001482
8 dolichocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000268
9 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
10 aplasia/hypoplasia of the earlobes 58 31 hallmark (90%) Very frequent (99-80%) HP:0009906
11 choanal atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000453
12 hypoplasia of the zygomatic bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0010669
13 reduced number of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009804
14 proptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000520
15 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
16 turricephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000262
17 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
18 visceral angiomatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100761
19 acanthosis nigricans 58 31 hallmark (90%) Very frequent (99-80%) HP:0000956
20 cloverleaf skull 58 31 hallmark (90%) Very frequent (99-80%) HP:0002676
21 respiratory distress 58 31 hallmark (90%) Very frequent (99-80%) HP:0002098
22 abnormality of the pancreas 58 31 hallmark (90%) Very frequent (99-80%) HP:0001732
23 preauricular skin furrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0004450
24 palmoplantar cutis gyrata 58 31 hallmark (90%) Very frequent (99-80%) HP:0007469
25 narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0000189
26 bifid scrotum 58 31 frequent (33%) Frequent (79-30%) HP:0000048
27 craniosynostosis 58 31 frequent (33%) Frequent (79-30%) HP:0001363
28 prominent scrotal raphe 58 31 frequent (33%) Frequent (79-30%) HP:0003246
29 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
30 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
31 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
32 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
33 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
34 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
35 abnormality of the nail 58 31 occasional (7.5%) Occasional (29-5%) HP:0001597
36 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
37 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
38 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
39 abnormality of vision 58 31 occasional (7.5%) Occasional (29-5%) HP:0000504
40 thickened helices 58 31 occasional (7.5%) Occasional (29-5%) HP:0000391
41 anteriorly placed anus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001545
42 agenesis of corpus callosum 31 HP:0001274
43 global developmental delay 31 HP:0001263
44 abnormal skull morphology 58 Very frequent (99-80%)
45 abnormality of the face 58 Very frequent (99-80%)
46 low-set, posteriorly rotated ears 31 HP:0000368
47 abnormality of the eye 58 Occasional (29-5%)
48 small nail 31 HP:0001792
49 choanal stenosis 31 HP:0000452
50 skin tags 31 HP:0010609

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hydrocephalus
developmental delay
agenesis of the corpus callosum

Head And Neck Eyes:
hypertelorism
proptosis
downslanting palpebral fissures

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

Skeletal Skull:
craniosynostosis
cloverleaf skull

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

Skeletal Limbs:
limited elbow extension

Growth Other:
normal intrauterine growth

Skin Nails Hair Nails:
small nails

Head And Neck Mouth:
narrow palate

Genitourinary External Genitalia Male:
bifid scrotum
prominent scrotal raphe

Head And Neck Nose:
choanal atresia
choanal stenosis

Abdomen External Features:
anteriorly placed anus
prominent umbilical stump

Respiratory Lung:
respiratory distress

Head And Neck Face:
midface hypoplasia

Genitourinary External Genitalia Female:
rugose labia majora

Clinical features from OMIM®:

123790 (Updated 20-May-2021)

UMLS symptoms related to Beare-Stevenson Cutis Gyrata Syndrome:


respiratory distress

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.02 ATE1 EFNB1 FGF16 FGFR2 FGFR3

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 Beare-Stevenson Cutis Gyrata Syndrome 29 FGFR2

Anatomical Context for Beare-Stevenson Cutis Gyrata Syndrome

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

40
Skin, Bone, Pancreas, Eye

Publications for Beare-Stevenson Cutis Gyrata Syndrome

Articles related to Beare-Stevenson Cutis Gyrata Syndrome:

(show all 23)
# Title Authors PMID Year
1
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. 61 54 57 6
8696350 1996
2
Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome. 6 57
19610084 2009
3
Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation. 57 6
18247426 2008
4
Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome. 61 6 54
12000365 2002
5
Beare-Stevenson cutis gyrata syndrome. 61 57
1519658 1992
6
Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes. 6
17525745 2007
7
Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis. 6
12900900 2003
8
Congenital craniofacial dysostosis and cutis gyratum: the Beare-Stevenson syndrome. 57
8181503 1994
9
Cutis gyratum and acanthosis nigricans associated with other anomalies: a distinctive syndrome. 57
660365 1978
10
Cutis gyratum, acanthosis nigricans and other congenital anomalies. A new syndrome. 57
5781468 1969
11
The effect of a Beare-Stevenson syndrome Fgfr2 Y394C mutation on early craniofacial bone volume and relative bone mineral density in mice. 61
22881429 2012
12
p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice. 61
22585574 2012
13
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. 61
19816645 2009
14
Perspectives on craniosynostosis: sutural biology, some well-known syndromes, and some unusual syndromes. 61
19293680 2009
15
[Multidisciplinary treatment for severe syndromic craniosynostosis]. 61
19175030 2009
16
Lateral orbital expansion and gradual fronto-orbital advancement: an option to treat severe syndromic craniosynostosis. 61
19098565 2008
17
Beare-Stevenson cutis gyrata syndrome: A new case of a c.1124C↷G (Y375C) mutation in the FGFR2 gene. 61
21479481 2008
18
What syndrome is this? Beare-Stevenson cutis gyrata syndrome. 61
12869163 2003
19
A case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the fibroblast growth factor receptor 2 gene. 61
12145519 2002
20
Beare-Stevenson cutis gyrata syndrome with Chiari malformation. 61
12181710 2002
21
Prenatal sonographic appearance of Beare-Stevenson cutis gyrata syndrome: two- and three-dimensional ultrasonographic findings. 61
11536267 2001
22
[Beare-Stevenson cutis gyrata syndrome]. 61
11462429 2001
23
A cloverleaf skull syndrome probably of Beare-Stevenson type associated with Chiari malformation. 61
8879651 1996

Variations for Beare-Stevenson Cutis Gyrata Syndrome

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

6 (show top 50) (show all 111)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGFR2 NM_000141.5(FGFR2):c.1115C>G (p.Ser372Cys) SNV Pathogenic 13278 rs121913477 GRCh37: 10:123274803-123274803
GRCh38: 10:121515289-121515289
2 FGFR2 NM_000141.5(FGFR2):c.859_921del (p.His287_Pro307del) Deletion Pathogenic 29852 rs1554930637 GRCh37: 10:123279511-123279573
GRCh38: 10:121519997-121520059
3 FGFR2 NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg) SNV Pathogenic 478046 rs1554927408 GRCh37: 10:123274768-123274768
GRCh38: 10:121515254-121515254
4 FGFR2 NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) SNV Pathogenic 13277 rs121913478 GRCh37: 10:123274794-123274794
GRCh38: 10:121515280-121515280
5 FGFR2 NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) SNV Pathogenic 13263 rs121918487 GRCh37: 10:123276892-123276892
GRCh38: 10:121517378-121517378
6 FGFR2 NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) SNV Pathogenic 13272 rs79184941 GRCh37: 10:123279677-123279677
GRCh38: 10:121520163-121520163
7 FGFR2 NM_022970.3(FGFR2):c.314A>G (p.Tyr105Cys) SNV Pathogenic 449024 rs1434545235 GRCh37: 10:123325014-123325014
GRCh38: 10:121565500-121565500
8 FGFR2 NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) SNV Pathogenic 13268 rs121918491 GRCh37: 10:123276885-123276885
GRCh38: 10:121517371-121517371
9 FGFR2 NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) SNV Pathogenic 13273 rs77543610 GRCh37: 10:123279674-123279674
GRCh38: 10:121520160-121520160
10 FGFR2 NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) SNV Pathogenic/Likely pathogenic 13277 rs121913478 GRCh37: 10:123274794-123274794
GRCh38: 10:121515280-121515280
11 FGFR2 NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) SNV Likely pathogenic 374817 rs1057519044 GRCh37: 10:123276904-123276904
GRCh38: 10:121517390-121517390
12 FGFR2 NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) SNV Uncertain significance 577711 rs199757302 GRCh37: 10:123276928-123276928
GRCh38: 10:121517414-121517414
13 FGFR2 NM_022970.3(FGFR2):c.110-22TC[3] Microsatellite Uncertain significance 299010 rs773932794 GRCh37: 10:123325233-123325234
GRCh38: 10:121565719-121565720
14 FGFR2 NM_000141.5(FGFR2):c.-535G>C SNV Uncertain significance 299025 rs886046767 GRCh37: 10:123357860-123357860
GRCh38: 10:121598346-121598346
15 FGFR2 NM_000141.5(FGFR2):c.-128G>A SNV Uncertain significance 299013 rs547739869 GRCh37: 10:123353459-123353459
GRCh38: 10:121593945-121593945
16 FGFR2 NM_022970.3(FGFR2):c.204C>T (p.Ala68=) SNV Uncertain significance 299009 rs747982371 GRCh37: 10:123325124-123325124
GRCh38: 10:121565610-121565610
17 FGFR2 NM_000141.5(FGFR2):c.-371C>T SNV Uncertain significance 299023 rs527570655 GRCh37: 10:123357696-123357696
GRCh38: 10:121598182-121598182
18 FGFR2 NM_000141.5(FGFR2):c.*1489C>T SNV Uncertain significance 298975 rs886046757 GRCh37: 10:123237882-123237882
GRCh38: 10:121478368-121478368
19 FGFR2 NM_000141.5(FGFR2):c.*1070T>C SNV Uncertain significance 298982 rs886046761 GRCh37: 10:123238301-123238301
GRCh38: 10:121478787-121478787
20 FGFR2 NM_000141.5(FGFR2):c.*497T>C SNV Uncertain significance 298987 rs3135827 GRCh37: 10:123238874-123238874
GRCh38: 10:121479360-121479360
21 FGFR2 NM_022970.3(FGFR2):c.351T>C (p.Thr117=) SNV Uncertain significance 299008 rs886046764 GRCh37: 10:123324977-123324977
GRCh38: 10:121565463-121565463
22 FGFR2 NM_000141.5(FGFR2):c.*1369C>T SNV Uncertain significance 298977 rs886046759 GRCh37: 10:123238002-123238002
GRCh38: 10:121478488-121478488
23 FGFR2 NM_000141.5(FGFR2):c.1179A>T (p.Val393=) SNV Uncertain significance 299004 rs886046763 GRCh37: 10:123274739-123274739
GRCh38: 10:121515225-121515225
24 FGFR2 NM_000141.5(FGFR2):c.-165G>A SNV Uncertain significance 299017 rs886046766 GRCh37: 10:123357490-123357490
GRCh38: 10:121597976-121597976
25 FGFR2 NM_000141.5(FGFR2):c.*921G>A SNV Uncertain significance 298983 rs185617859 GRCh37: 10:123238450-123238450
GRCh38: 10:121478936-121478936
26 FGFR2 NM_000141.5(FGFR2):c.*736dup Duplication Uncertain significance 298984 rs886046762 GRCh37: 10:123238634-123238635
GRCh38: 10:121479120-121479121
27 FGFR2 NM_000141.5(FGFR2):c.-622G>A SNV Uncertain significance 299026 rs886046768 GRCh37: 10:123357947-123357947
GRCh38: 10:121598433-121598433
28 FGFR2 NM_000141.5(FGFR2):c.*1287A>C SNV Uncertain significance 298980 rs886046760 GRCh37: 10:123238084-123238084
GRCh38: 10:121478570-121478570
29 FGFR2 NM_000141.5(FGFR2):c.*1126T>C SNV Uncertain significance 298981 rs370106008 GRCh37: 10:123238245-123238245
GRCh38: 10:121478731-121478731
30 FGFR2 NM_000141.5(FGFR2):c.*1402T>C SNV Uncertain significance 298976 rs886046758 GRCh37: 10:123237969-123237969
GRCh38: 10:121478455-121478455
31 FGFR2 NM_000141.5(FGFR2):c.625-8C>T SNV Uncertain significance 877715 GRCh37: 10:123298237-123298237
GRCh38: 10:121538723-121538723
32 FGFR2 NM_000141.5(FGFR2):c.-108C>T SNV Uncertain significance 877867 GRCh37: 10:123353439-123353439
GRCh38: 10:121593925-121593925
33 FGFR2 NM_000141.5(FGFR2):c.-173G>A SNV Uncertain significance 879853 GRCh37: 10:123357498-123357498
GRCh38: 10:121597984-121597984
34 FGFR2 NM_000141.5(FGFR2):c.-237C>A SNV Uncertain significance 879901 GRCh37: 10:123357562-123357562
GRCh38: 10:121598048-121598048
35 FGFR2 NM_000141.5(FGFR2):c.-603C>T SNV Uncertain significance 879946 GRCh37: 10:123357928-123357928
GRCh38: 10:121598414-121598414
36 FGFR2 NM_000141.5(FGFR2):c.*1240A>C SNV Uncertain significance 878945 GRCh37: 10:123238131-123238131
GRCh38: 10:121478617-121478617
37 FGFR2 NM_000141.5(FGFR2):c.*256G>A SNV Uncertain significance 880262 GRCh37: 10:123239115-123239115
GRCh38: 10:121479601-121479601
38 FGFR2 NM_000141.5(FGFR2):c.-590G>C SNV Uncertain significance 879590 GRCh37: 10:123357915-123357915
GRCh38: 10:121598401-121598401
39 FGFR2 NM_000141.5(FGFR2):c.2045A>G (p.His682Arg) SNV Uncertain significance 880311 GRCh37: 10:123246880-123246880
GRCh38: 10:121487366-121487366
40 FGFR2 NM_000141.5(FGFR2):c.1539C>A (p.Thr513=) SNV Uncertain significance 299002 rs74160617 GRCh37: 10:123260362-123260362
GRCh38: 10:121500848-121500848
41 FGFR2 NM_000141.5(FGFR2):c.-129C>T SNV Uncertain significance 299014 rs886046765 GRCh37: 10:123353460-123353460
GRCh38: 10:121593946-121593946
42 FGFR2 NM_000141.5(FGFR2):c.1167C>G (p.Ala389=) SNV Uncertain significance 877639 GRCh37: 10:123274751-123274751
GRCh38: 10:121515237-121515237
43 FGFR2 NM_000141.5(FGFR2):c.780C>T (p.Ala260=) SNV Uncertain significance 772255 rs778288494 GRCh37: 10:123279652-123279652
GRCh38: 10:121520138-121520138
44 FGFR2 NM_000141.5(FGFR2):c.-196G>A SNV Uncertain significance 877914 GRCh37: 10:123357521-123357521
GRCh38: 10:121598007-121598007
45 FGFR2 NM_000141.5(FGFR2):c.-17G>C SNV Uncertain significance 877977 GRCh37: 10:123353348-123353348
GRCh38: 10:121593834-121593834
46 FGFR2 NM_000141.5(FGFR2):c.-206C>A SNV Uncertain significance 877915 GRCh37: 10:123357531-123357531
GRCh38: 10:121598017-121598017
47 FGFR2 NM_000141.5(FGFR2):c.*874A>G SNV Uncertain significance 878403 GRCh37: 10:123238497-123238497
GRCh38: 10:121478983-121478983
48 FGFR2 NM_000141.5(FGFR2):c.*463A>G SNV Uncertain significance 877435 GRCh37: 10:123238908-123238908
GRCh38: 10:121479394-121479394
49 FGFR2 NM_000141.5(FGFR2):c.1093A>C (p.Arg365=) SNV Uncertain significance 878653 GRCh37: 10:123274825-123274825
GRCh38: 10:121515311-121515311
50 FGFR2 NM_000141.5(FGFR2):c.772C>T (p.Leu258Phe) SNV Uncertain significance 878704 GRCh37: 10:123279660-123279660
GRCh38: 10:121520146-121520146

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

72
# Symbol AA change Variation ID SNP ID
1 FGFR2 p.Ser372Cys VAR_017274 rs121913477
2 FGFR2 p.Tyr375Cys VAR_017275 rs121913478

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.99 FGFR3 FGFR2 FGF16
2
Show member pathways
11.98 FGFR3 FGFR2 FGF16
3 11.92 FGFR3 FGFR2 FGF16
4
Show member pathways
11.91 FGFR3 FGFR2 FGF16
5
Show member pathways
11.72 FGFR3 FGFR2 FGF16
6
Show member pathways
11.53 FGFR3 FGFR2 FGF16
7 11.3 FGFR3 FGFR2 EFNB1
8 11.13 FGFR3 FGFR2
9 11.09 FGFR3 FGFR2
10 10.75 FGFR3 FGFR2 EFNB1

GO Terms for Beare-Stevenson Cutis Gyrata Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.63 FGFR3 FGFR2 FGF16
2 positive regulation of protein kinase B signaling GO:0051897 9.5 FGFR3 FGFR2 FGF16
3 bone mineralization GO:0030282 9.43 FGFR3 FGFR2
4 bone morphogenesis GO:0060349 9.4 FGFR3 FGFR2
5 embryonic pattern specification GO:0009880 9.37 FGFR2 EFNB1
6 positive regulation of phospholipase activity GO:0010518 9.26 FGFR3 FGFR2
7 endochondral bone growth GO:0003416 9.16 FGFR3 FGFR2
8 fibroblast growth factor receptor signaling pathway GO:0008543 9.13 FGFR3 FGFR2 FGF16
9 cell-cell signaling GO:0007267 8.92 FGFR3 FGFR2 FGF16 EFNB1

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.16 FGFR3 FGFR2
2 fibroblast growth factor binding GO:0017134 8.96 FGFR3 FGFR2
3 fibroblast growth factor-activated receptor activity GO:0005007 8.62 FGFR3 FGFR2

Sources for Beare-Stevenson Cutis Gyrata Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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