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BSTVS
MCID: BRS002
MIFTS: 48

Beare-Stevenson Cutis Gyrata Syndrome (BSTVS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Beare-Stevenson Cutis Gyrata Syndrome

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MalaCards integrated aliases for Beare-Stevenson Cutis Gyrata Syndrome:

Name: Beare-Stevenson Cutis Gyrata Syndrome 58 12 77 54 26 60 76 13 56 15
Cutis Gyrata Syndrome of Beare and Stevenson 58 54 26 76 30 6 74
Beare-Stevenson Syndrome 58 76 38 41
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome 54 60
Bstvs 58 76
Cutis Gyrata - Acanthosis Nigricans - Craniosynostosis 54
Cutis Gyrata Syndrome of Beare-Stevenson 26
Beare Stevenson Syndrome 54

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:

33
beare-stevenson cutis gyrata syndrome:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Beare-Stevenson Cutis Gyrata Syndrome

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NIH Rare Diseases : 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 craniosynostosis and synostosis, 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 eye, 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
Sources

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 30)
# Related Disease Score Top Affiliating Genes
1 craniosynostosis 30.0 FGFR2 FGFR3
2 synostosis 29.5 FGFR2 FGFR3 RAB23
3 chiari malformation 10.4
4 dysostosis 10.2
5 fgfr-related craniosynostosis syndromes 10.2
6 hemifacial hyperplasia 10.0 FGFR2 FGFR3
7 plagiocephaly 10.0 FGFR2 FGFR3
8 osteoglophonic dysplasia 10.0 FGFR2 FGFR3
9 luteoma 10.0 FGFR2 FGFR3
10 jackson-weiss syndrome 10.0 FGFR2 FGFR3
11 radioulnar synostosis 10.0 FGFR2 FGFR3
12 thanatophoric dysplasia, type i 10.0 FGFR2 FGFR3
13 hypertropia 10.0 FGFR2 FGFR3
14 hypochondroplasia 10.0 FGFR2 FGFR3
15 exophthalmos 10.0 FGFR2 FGFR3
16 chromosome 2q35 duplication syndrome 10.0 FGFR2 FGFR3
17 crouzon syndrome 9.9 FGFR2 FGFR3
18 achondroplasia 9.9 FGFR2 FGFR3
19 bone development disease 9.9 FGFR2 FGFR3
20 lacrimoauriculodentodigital syndrome 9.9 FGFR2 FGFR3
21 acanthosis nigricans 9.9 FGFR2 FGFR3
22 saethre-chotzen syndrome 9.9 FGFR2 FGFR3
23 pfeiffer syndrome 9.9 FGFR2 FGFR3
24 autosomal dominant disease 9.9 FGFR2 FGFR3
25 strabismus 9.9 FGFR2 FGFR3
26 hydrocephalus 9.8 FGFR2 FGFR3
27 bone disease 9.7 FGFR2 FGFR3
28 lung squamous cell carcinoma 9.6 FGFR2 FGFR3
29 apert syndrome 9.5 FGFR2 FGFR3 RAB23
30 muenke syndrome 9.5 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
Sources

Symptoms & Phenotypes for Beare-Stevenson Cutis Gyrata Syndrome

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Human phenotypes related to Beare-Stevenson Cutis Gyrata Syndrome:

60 33 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 60 33 hallmark (90%) Very frequent (99-80%) HP:0000272
2 ptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000508
3 macrotia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000400
4 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
5 subcutaneous nodule 60 33 hallmark (90%) Very frequent (99-80%) HP:0001482
6 palmoplantar keratoderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000982
7 acanthosis nigricans 60 33 hallmark (90%) Very frequent (99-80%) HP:0000956
8 cloverleaf skull 60 33 hallmark (90%) Very frequent (99-80%) HP:0002676
9 respiratory distress 60 33 hallmark (90%) Very frequent (99-80%) HP:0002098
10 dolichocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000268
11 hearing abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0000364
12 melanocytic nevus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000995
13 abnormality of the pancreas 60 33 hallmark (90%) Very frequent (99-80%) HP:0001732
14 visceral angiomatosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100761
15 downslanted palpebral fissures 60 33 hallmark (90%) Very frequent (99-80%) HP:0000494
16 turricephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000262
17 choanal atresia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000453
18 reduced number of teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0009804
19 midface retrusion 60 33 hallmark (90%) Very frequent (99-80%) HP:0011800
20 proptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000520
21 aplasia/hypoplasia of the earlobes 60 33 hallmark (90%) Very frequent (99-80%) HP:0009906
22 preauricular skin furrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0004450
23 palmoplantar cutis gyrata 60 33 hallmark (90%) Very frequent (99-80%) HP:0007469
24 hypoplasia of the zygomatic bone 33 hallmark (90%) HP:0010669
25 narrow palate 60 33 frequent (33%) Frequent (79-30%) HP:0000189
26 craniosynostosis 60 33 frequent (33%) Frequent (79-30%) HP:0001363
27 bifid scrotum 60 33 frequent (33%) Frequent (79-30%) HP:0000048
28 prominent scrotal raphe 60 33 frequent (33%) Frequent (79-30%) HP:0003246
29 hypertelorism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000316
30 hydrocephalus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000238
31 hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0000822
32 umbilical hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001537
33 anteverted nares 60 33 occasional (7.5%) Occasional (29-5%) HP:0000463
34 optic atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000648
35 abnormality of vision 60 33 occasional (7.5%) Occasional (29-5%) HP:0000504
36 abnormality of the nail 60 33 occasional (7.5%) Occasional (29-5%) HP:0001597
37 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
38 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
39 narrow mouth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000160
40 thickened helices 60 33 occasional (7.5%) Occasional (29-5%) HP:0000391
41 anteriorly placed anus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001545
42 agenesis of corpus callosum 33 HP:0001274
43 global developmental delay 33 HP:0001263
44 abnormality of the eye 60 Occasional (29-5%)
45 abnormality of the skull 60 Very frequent (99-80%)
46 small nail 33 HP:0001792
47 abnormality of the face 60 Very frequent (99-80%)
48 low-set, posteriorly rotated ears 33 HP:0000368
49 cheekbone underdevelopment 60 Very frequent (99-80%)
50 choanal stenosis 33 HP:0000452

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
proptosis
downslanting palpebral fissures

Head And Neck Mouth:
narrow palate

Skeletal Skull:
cloverleaf skull
craniosynostosis

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

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

Respiratory Lung:
respiratory distress

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

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:

27
# 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:

47
# 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
Sources

Drugs & Therapeutics for Beare-Stevenson Cutis Gyrata Syndrome

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

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Genetic Tests for Beare-Stevenson Cutis Gyrata Syndrome

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Genetic tests related to Beare-Stevenson Cutis Gyrata Syndrome:

# Genetic test Affiliating Genes
1 Cutis Gyrata Syndrome of Beare and Stevenson 30 FGFR2
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Anatomical Context for Beare-Stevenson Cutis Gyrata Syndrome

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

42
Skin, Bone, Eye, Pancreas
Sources

Publications for Beare-Stevenson Cutis Gyrata Syndrome

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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
Sources

Variations for Beare-Stevenson Cutis Gyrata Syndrome

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

76
# 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 (show top 50) (show all 130)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR2 NM_000141.4(FGFR2): c.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh37 Chromosome 10, 123325034: 123325034
2 FGFR2 NM_000141.4(FGFR2): c.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh38 Chromosome 10, 121565520: 121565520
3 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh37 Chromosome 10, 123325169: 123325169
4 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh38 Chromosome 10, 121565655: 121565655
5 FGFR2 NM_000141.4(FGFR2): c.1124A> G (p.Tyr375Cys) single nucleotide variant Pathogenic rs121913478 GRCh37 Chromosome 10, 123274794: 123274794
6 FGFR2 NM_000141.4(FGFR2): c.1124A> G (p.Tyr375Cys) single nucleotide variant Pathogenic rs121913478 GRCh38 Chromosome 10, 121515280: 121515280
7 FGFR2 NM_000141.4(FGFR2): c.1115C> G (p.Ser372Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913477 GRCh37 Chromosome 10, 123274803: 123274803
8 FGFR2 NM_000141.4(FGFR2): c.1115C> G (p.Ser372Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913477 GRCh38 Chromosome 10, 121515289: 121515289
9 FGFR2 NM_000141.4(FGFR2): c.859_921del (p.His287_Pro307del) deletion Pathogenic rs1554930637 GRCh37 Chromosome 10, 123279511: 123279573
10 FGFR2 NM_000141.4(FGFR2): c.859_921del (p.His287_Pro307del) deletion Pathogenic rs1554930637 GRCh38 Chromosome 10, 121519997: 121520059
11 FGFR2 NM_000141.4(FGFR2): c.17G> C (p.Arg6Pro) single nucleotide variant Benign rs3750819 GRCh37 Chromosome 10, 123353315: 123353315
12 FGFR2 NM_000141.4(FGFR2): c.17G> C (p.Arg6Pro) single nucleotide variant Benign rs3750819 GRCh38 Chromosome 10, 121593801: 121593801
13 FGFR2 NM_000141.4(FGFR2): c.170C> T (p.Ser57Leu) single nucleotide variant Benign/Likely benign rs56226109 GRCh37 Chromosome 10, 123325158: 123325158
14 FGFR2 NM_000141.4(FGFR2): c.170C> T (p.Ser57Leu) single nucleotide variant Benign/Likely benign rs56226109 GRCh38 Chromosome 10, 121565644: 121565644
15 FGFR2 NM_000141.4(FGFR2): c.939+11T> C single nucleotide variant Likely benign rs145303463 GRCh37 Chromosome 10, 123279482: 123279482
16 FGFR2 NM_000141.4(FGFR2): c.939+11T> C single nucleotide variant Likely benign rs145303463 GRCh38 Chromosome 10, 121519968: 121519968
17 FGFR2 NM_000141.4(FGFR2): c.2301+15C> T single nucleotide variant Benign rs2278202 GRCh37 Chromosome 10, 123243197: 123243197
18 FGFR2 NM_000141.4(FGFR2): c.2301+15C> T single nucleotide variant Benign rs2278202 GRCh38 Chromosome 10, 121483683: 121483683
19 FGFR2 NM_000141.4(FGFR2): c.1941C> T (p.Leu647=) single nucleotide variant Benign rs35337478 GRCh38 Chromosome 10, 121488036: 121488036
20 FGFR2 NM_000141.4(FGFR2): c.1941C> T (p.Leu647=) single nucleotide variant Benign rs35337478 GRCh37 Chromosome 10, 123247550: 123247550
21 FGFR2 NM_000141.4(FGFR2): c.696A> G (p.Val232=) single nucleotide variant Benign rs1047100 GRCh37 Chromosome 10, 123298158: 123298158
22 FGFR2 NM_000141.4(FGFR2): c.696A> G (p.Val232=) single nucleotide variant Benign rs1047100 GRCh38 Chromosome 10, 121538644: 121538644
23 FGFR2 NM_000141.4(FGFR2): c.109+10T> G single nucleotide variant Benign/Likely benign rs3135722 GRCh37 Chromosome 10, 123353213: 123353213
24 FGFR2 NM_000141.4(FGFR2): c.109+10T> G single nucleotide variant Benign/Likely benign rs3135722 GRCh38 Chromosome 10, 121593699: 121593699
25 FGFR2 NM_000141.4(FGFR2): c.*1498_*1502delATAAA deletion Likely benign rs566259479 GRCh38 Chromosome 10, 121478355: 121478359
26 FGFR2 NM_000141.4(FGFR2): c.*1498_*1502delATAAA deletion Likely benign rs566259479 GRCh37 Chromosome 10, 123237869: 123237873
27 FGFR2 NM_000141.4(FGFR2): c.*1402T> C single nucleotide variant Uncertain significance rs886046758 GRCh38 Chromosome 10, 121478455: 121478455
28 FGFR2 NM_000141.4(FGFR2): c.*1402T> C single nucleotide variant Uncertain significance rs886046758 GRCh37 Chromosome 10, 123237969: 123237969
29 FGFR2 NM_000141.4(FGFR2): c.*1369C> T single nucleotide variant Uncertain significance rs886046759 GRCh37 Chromosome 10, 123238002: 123238002
30 FGFR2 NM_000141.4(FGFR2): c.*1369C> T single nucleotide variant Uncertain significance rs886046759 GRCh38 Chromosome 10, 121478488: 121478488
31 FGFR2 NM_000141.4(FGFR2): c.*469G> A single nucleotide variant Benign rs41294351 GRCh37 Chromosome 10, 123238902: 123238902
32 FGFR2 NM_000141.4(FGFR2): c.*469G> A single nucleotide variant Benign rs41294351 GRCh38 Chromosome 10, 121479388: 121479388
33 FGFR2 NM_000141.4(FGFR2): c.*259C> T single nucleotide variant Benign rs1047057 GRCh37 Chromosome 10, 123239112: 123239112
34 FGFR2 NM_000141.4(FGFR2): c.*259C> T single nucleotide variant Benign rs1047057 GRCh38 Chromosome 10, 121479598: 121479598
35 FGFR2 NM_000141.4(FGFR2): c.*111G> A single nucleotide variant Likely benign rs574474794 GRCh37 Chromosome 10, 123239260: 123239260
36 FGFR2 NM_000141.4(FGFR2): c.*111G> A single nucleotide variant Likely benign rs574474794 GRCh38 Chromosome 10, 121479746: 121479746
37 FGFR2 NM_000141.4(FGFR2): c.1673-12C> T single nucleotide variant Likely benign rs41293763 GRCh38 Chromosome 10, 121496734: 121496734
38 FGFR2 NM_000141.4(FGFR2): c.1673-12C> T single nucleotide variant Likely benign rs41293763 GRCh37 Chromosome 10, 123256248: 123256248
39 FGFR2 NM_000141.4(FGFR2): c.-128G> A single nucleotide variant Uncertain significance rs547739869 GRCh38 Chromosome 10, 121593945: 121593945
40 FGFR2 NM_000141.4(FGFR2): c.-128G> A single nucleotide variant Uncertain significance rs547739869 GRCh37 Chromosome 10, 123353459: 123353459
41 FGFR2 NM_000141.4(FGFR2): c.-135C> T single nucleotide variant Likely benign rs554557891 GRCh38 Chromosome 10, 121593952: 121593952
42 FGFR2 NM_000141.4(FGFR2): c.-135C> T single nucleotide variant Likely benign rs554557891 GRCh37 Chromosome 10, 123353466: 123353466
43 FGFR2 NM_000141.4(FGFR2): c.-236G> C single nucleotide variant Benign rs1047111 GRCh38 Chromosome 10, 121598047: 121598047
44 FGFR2 NM_000141.4(FGFR2): c.-236G> C single nucleotide variant Benign rs1047111 GRCh37 Chromosome 10, 123357561: 123357561
45 FGFR2 NM_000141.4(FGFR2): c.-318G> C single nucleotide variant Benign rs41301547 GRCh37 Chromosome 10, 123357643: 123357643
46 FGFR2 NM_000141.4(FGFR2): c.-318G> C single nucleotide variant Benign rs41301547 GRCh38 Chromosome 10, 121598129: 121598129
47 FGFR2 NM_000141.4(FGFR2): c.-535G> C single nucleotide variant Uncertain significance rs886046767 GRCh37 Chromosome 10, 123357860: 123357860
48 FGFR2 NM_000141.4(FGFR2): c.-535G> C single nucleotide variant Uncertain significance rs886046767 GRCh38 Chromosome 10, 121598346: 121598346
49 FGFR2 NM_000141.4(FGFR2): c.*1301C> T single nucleotide variant Likely benign rs71640261 GRCh37 Chromosome 10, 123238070: 123238070
50 FGFR2 NM_000141.4(FGFR2): c.*1301C> T single nucleotide variant Likely benign rs71640261 GRCh38 Chromosome 10, 121478556: 121478556
Sources

Expression for Beare-Stevenson Cutis Gyrata Syndrome

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Search GEO for disease gene expression data for Beare-Stevenson Cutis Gyrata Syndrome.
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Pathways 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)
# Super pathways Score Top Affiliating Genes
1
Apoptosis Pathway 73
Show member pathways
 11.98 FGFR2 FGFR3
2
mTOR signalling 67
Show member pathways
 11.94 FGFR2 FGFR3
3
RhoGDI Pathway 65
Show member pathways
 11.93 FGFR2 FGFR3
4
Endocytosis 38
11.91 FGFR2 FGFR3
5
Signaling by FGFR2 67
Show member pathways
 11.8 FGFR2 FGFR3
6
MAPK Signaling: Mitogen Stimulation Pathway 66
Show member pathways
 11.75 FGFR2 FGFR3
7
VEGF Signaling Pathway 62 68
Show member pathways
 11.73 FGFR2 FGFR3
8
Signaling by FGFR2 in disease 67
Show member pathways
 11.66 FGFR2 FGFR3
9
AKT Signaling Pathway 68
11.65 FGFR2 FGFR3
10
Tyrosine Kinases / Adaptors 4
11.57 FGFR2 FGFR3
11
Signaling pathways regulating pluripotency of stem cells 38
11.51 FGFR2 FGFR3
12
Neural Crest Differentiation 1
11.33 FGFR2 FGFR3
13
Angiogenesis (CST) 4
11.21 FGFR2 FGFR3
14
Central carbon metabolism in cancer 38
10.97 FGFR2 FGFR3
15
G-protein signaling_Cross-talk between Ras-family GTPases 23
10.96 FGFR2 FGFR3
16
Alzheimers Disease Pathway 65
10.61 FGFR2 FGFR3
17
Cytoskeleton remodeling_RalB regulation pathway 23
10.58 FGFR2 FGFR3
18
Vemurafenib Pathway, Pharmacodynamics 62
10.26 FGFR2 FGFR3
Sources

GO Terms for Beare-Stevenson Cutis Gyrata Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.96 FGFR2 FGFR3
2 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 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.54 FGFR2 FGFR3
2 cell-cell signaling GO:0007267 9.52 FGFR2 FGFR3
3 MAPK cascade GO:0000165 9.51 FGFR2 FGFR3
4 peptidyl-tyrosine phosphorylation GO:0018108 9.49 FGFR2 FGFR3
5 protein autophosphorylation GO:0046777 9.48 FGFR2 FGFR3
6 positive regulation of protein kinase B signaling GO:0051897 9.46 FGFR2 FGFR3
7 positive regulation of MAPK cascade GO:0043410 9.43 FGFR2 FGFR3
8 phosphatidylinositol phosphorylation GO:0046854 9.4 FGFR2 FGFR3
9 fibroblast growth factor receptor signaling pathway GO:0008543 9.37 FGFR2 FGFR3
10 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.32 FGFR2 FGFR3
11 bone mineralization GO:0030282 9.26 FGFR2 FGFR3
12 bone morphogenesis GO:0060349 9.16 FGFR2 FGFR3
13 positive regulation of phospholipase activity GO:0010518 8.96 FGFR2 FGFR3
14 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

Sources for Beare-Stevenson Cutis Gyrata Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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