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BSTVS
MCID: BRS002
MIFTS: 49

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 57 12 76 53 25 59 75 13 55 15
Cutis Gyrata Syndrome of Beare and Stevenson 57 53 25 75 29 6 73
Beare-Stevenson Syndrome 57 75 37 40
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome 53 59
Bstvs 57 75
Cutis Gyrata - Acanthosis Nigricans - Craniosynostosis 53
Cutis Gyrata Syndrome of Beare-Stevenson 25
Beare Stevenson Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
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: 34
Orphanet: 59  
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 : 53 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 hypertelorism

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 : 75 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 : 76 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 30.1 FGFR3 FGFR2
2 synostosis 29.8 RAB23 FGFR3 FGFR2
3 chiari malformation 10.4
4 dysostosis 10.1
5 fgfr-related craniosynostosis syndromes 10.1
6 hemifacial hyperplasia 10.0 FGFR3 FGFR2
7 plagiocephaly 10.0 FGFR3 FGFR2
8 osteoglophonic dysplasia 10.0 FGFR3 FGFR2
9 luteoma 10.0 FGFR3 FGFR2
10 jackson-weiss syndrome 10.0 FGFR3 FGFR2
11 radioulnar synostosis 10.0 FGFR3 FGFR2
12 thanatophoric dysplasia, type i 10.0 FGFR3 FGFR2
13 hypertropia 10.0 FGFR3 FGFR2
14 hypochondroplasia 10.0 FGFR3 FGFR2
15 exophthalmos 10.0 FGFR3 FGFR2
16 crouzon syndrome 10.0 FGFR3 FGFR2
17 bone development disease 10.0 FGFR3 FGFR2
18 achondroplasia 10.0 FGFR3 FGFR2
19 lacrimoauriculodentodigital syndrome 10.0 FGFR3 FGFR2
20 chromosome 2q35 duplication syndrome 10.0 FGFR3 FGFR2
21 acanthosis nigricans 9.9 FGFR3 FGFR2
22 saethre-chotzen syndrome 9.9 FGFR3 FGFR2
23 pfeiffer syndrome 9.9 FGFR3 FGFR2
24 autosomal dominant disease 9.9 FGFR3 FGFR2
25 strabismus 9.9 FGFR3 FGFR2
26 hydrocephalus 9.9 FGFR3 FGFR2
27 bone disease 9.8 FGFR3 FGFR2
28 lung squamous cell carcinoma 9.8 FGFR3 FGFR2
29 apert syndrome 9.7 RAB23 FGFR3 FGFR2
30 muenke syndrome 9.7 RAB23 FGFR3 FGFR2

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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Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Beare-Stevenson Cutis Gyrata Syndrome:

59 32 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
3 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
4 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
5 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
6 narrow palate 59 32 frequent (33%) Frequent (79-30%) HP:0000189
7 macrotia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000400
8 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
9 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
10 anteverted nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0000463
11 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
12 abnormality of vision 59 32 occasional (7.5%) Occasional (29-5%) HP:0000504
13 subcutaneous nodule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001482
14 abnormality of the nail 59 32 occasional (7.5%) Occasional (29-5%) HP:0001597
15 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
16 palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000982
17 acanthosis nigricans 59 32 hallmark (90%) Very frequent (99-80%) HP:0000956
18 cloverleaf skull 59 32 hallmark (90%) Very frequent (99-80%) HP:0002676
19 respiratory distress 59 32 hallmark (90%) Very frequent (99-80%) HP:0002098
20 dolichocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000268
21 hearing abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0000364
22 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
23 melanocytic nevus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000995
24 abnormality of the pancreas 59 32 hallmark (90%) Very frequent (99-80%) HP:0001732
25 visceral angiomatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100761
26 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
27 narrow mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000160
28 turricephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000262
29 choanal atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000453
30 reduced number of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0009804
31 midface retrusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0011800
32 proptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000520
33 craniosynostosis 59 32 frequent (33%) Frequent (79-30%) HP:0001363
34 thickened helices 59 32 occasional (7.5%) Occasional (29-5%) HP:0000391
35 bifid scrotum 59 32 frequent (33%) Frequent (79-30%) HP:0000048
36 anteriorly placed anus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001545
37 aplasia/hypoplasia of the earlobes 59 32 hallmark (90%) Very frequent (99-80%) HP:0009906
38 prominent scrotal raphe 59 32 frequent (33%) Frequent (79-30%) HP:0003246
39 preauricular skin furrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0004450
40 palmoplantar cutis gyrata 59 32 hallmark (90%) 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 59 Occasional (29-5%)
44 abnormality of the skull 59 Very frequent (99-80%)
45 small nail 32 HP:0001792
46 abnormality of the face 59 Very frequent (99-80%)
47 low-set, posteriorly rotated ears 32 HP:0000368
48 cheekbone underdevelopment 59 Very frequent (99-80%)
49 choanal stenosis 32 HP:0000452
50 skin tags 32 HP:0010609

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
# 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:

46
# 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 29 FGFR2
Sources

Anatomical Context for Beare-Stevenson Cutis Gyrata Syndrome

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

41
Skin, Bone, Eye, Pancreas, Lung
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:

75
# 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 129)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR2 NM_000141.4(FGFR2): c.1124A> G (p.Tyr375Cys) single nucleotide variant Pathogenic rs121913478 GRCh37 Chromosome 10, 123274794: 123274794
2 FGFR2 NM_000141.4(FGFR2): c.1124A> G (p.Tyr375Cys) single nucleotide variant Pathogenic rs121913478 GRCh38 Chromosome 10, 121515280: 121515280
3 FGFR2 NM_000141.4(FGFR2): c.1115C> G (p.Ser372Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913477 GRCh37 Chromosome 10, 123274803: 123274803
4 FGFR2 NM_000141.4(FGFR2): c.1115C> G (p.Ser372Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913477 GRCh38 Chromosome 10, 121515289: 121515289
5 FGFR2 NG_012449.2: g.83400_83462del deletion Pathogenic
6 FGFR2 NM_000141.4(FGFR2): c.17G> C (p.Arg6Pro) single nucleotide variant Benign rs3750819 GRCh37 Chromosome 10, 123353315: 123353315
7 FGFR2 NM_000141.4(FGFR2): c.17G> C (p.Arg6Pro) single nucleotide variant Benign rs3750819 GRCh38 Chromosome 10, 121593801: 121593801
8 FGFR2 NM_000141.4(FGFR2): c.170C> T (p.Ser57Leu) single nucleotide variant Benign/Likely benign rs56226109 GRCh37 Chromosome 10, 123325158: 123325158
9 FGFR2 NM_000141.4(FGFR2): c.170C> T (p.Ser57Leu) single nucleotide variant Benign/Likely benign rs56226109 GRCh38 Chromosome 10, 121565644: 121565644
10 FGFR2 NM_000141.4(FGFR2): c.939+11T> C single nucleotide variant Likely benign rs145303463 GRCh37 Chromosome 10, 123279482: 123279482
11 FGFR2 NM_000141.4(FGFR2): c.939+11T> C single nucleotide variant Likely benign rs145303463 GRCh38 Chromosome 10, 121519968: 121519968
12 FGFR2 NM_000141.4(FGFR2): c.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh37 Chromosome 10, 123325034: 123325034
13 FGFR2 NM_000141.4(FGFR2): c.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh38 Chromosome 10, 121565520: 121565520
14 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh37 Chromosome 10, 123325169: 123325169
15 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh38 Chromosome 10, 121565655: 121565655
16 FGFR2 NM_000141.4(FGFR2): c.2301+15C> T single nucleotide variant Benign rs2278202 GRCh37 Chromosome 10, 123243197: 123243197
17 FGFR2 NM_000141.4(FGFR2): c.2301+15C> T single nucleotide variant Benign rs2278202 GRCh38 Chromosome 10, 121483683: 121483683
18 FGFR2 NM_000141.4(FGFR2): c.1941C> T (p.Leu647=) single nucleotide variant Benign rs35337478 GRCh38 Chromosome 10, 121488036: 121488036
19 FGFR2 NM_000141.4(FGFR2): c.1941C> T (p.Leu647=) single nucleotide variant Benign rs35337478 GRCh37 Chromosome 10, 123247550: 123247550
20 FGFR2 NM_000141.4(FGFR2): c.696A> G (p.Val232=) single nucleotide variant Benign rs1047100 GRCh37 Chromosome 10, 123298158: 123298158
21 FGFR2 NM_000141.4(FGFR2): c.696A> G (p.Val232=) single nucleotide variant Benign rs1047100 GRCh38 Chromosome 10, 121538644: 121538644
22 FGFR2 NM_000141.4(FGFR2): c.109+10T> G single nucleotide variant Benign/Likely benign rs3135722 GRCh37 Chromosome 10, 123353213: 123353213
23 FGFR2 NM_000141.4(FGFR2): c.109+10T> G single nucleotide variant Benign/Likely benign rs3135722 GRCh38 Chromosome 10, 121593699: 121593699
24 FGFR2 NM_000141.4(FGFR2): c.*1498_*1502delATAAA deletion Likely benign rs566259479 GRCh37 Chromosome 10, 123237869: 123237873
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.*1402T> C single nucleotide variant Uncertain significance rs886046758 GRCh37 Chromosome 10, 123237969: 123237969
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.*1369C> T single nucleotide variant Uncertain significance rs886046759 GRCh37 Chromosome 10, 123238002: 123238002
29 FGFR2 NM_000141.4(FGFR2): c.*1369C> T single nucleotide variant Uncertain significance rs886046759 GRCh38 Chromosome 10, 121478488: 121478488
30 FGFR2 NM_000141.4(FGFR2): c.*469G> A single nucleotide variant Benign rs41294351 GRCh37 Chromosome 10, 123238902: 123238902
31 FGFR2 NM_000141.4(FGFR2): c.*469G> A single nucleotide variant Benign rs41294351 GRCh38 Chromosome 10, 121479388: 121479388
32 FGFR2 NM_000141.4(FGFR2): c.*259C> T single nucleotide variant Benign rs1047057 GRCh37 Chromosome 10, 123239112: 123239112
33 FGFR2 NM_000141.4(FGFR2): c.*259C> T single nucleotide variant Benign rs1047057 GRCh38 Chromosome 10, 121479598: 121479598
34 FGFR2 NM_000141.4(FGFR2): c.*111G> A single nucleotide variant Likely benign rs574474794 GRCh37 Chromosome 10, 123239260: 123239260
35 FGFR2 NM_000141.4(FGFR2): c.*111G> A single nucleotide variant Likely benign rs574474794 GRCh38 Chromosome 10, 121479746: 121479746
36 FGFR2 NM_000141.4(FGFR2): c.1673-12C> T single nucleotide variant Likely benign rs41293763 GRCh38 Chromosome 10, 121496734: 121496734
37 FGFR2 NM_000141.4(FGFR2): c.1673-12C> T single nucleotide variant Likely benign rs41293763 GRCh37 Chromosome 10, 123256248: 123256248
38 FGFR2 NM_000141.4(FGFR2): c.-128G> A single nucleotide variant Uncertain significance rs547739869 GRCh37 Chromosome 10, 123353459: 123353459
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.-135C> T single nucleotide variant Likely benign rs554557891 GRCh37 Chromosome 10, 123353466: 123353466
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.-236G> C single nucleotide variant Benign rs1047111 GRCh37 Chromosome 10, 123357561: 123357561
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.-318G> C single nucleotide variant Benign rs41301547 GRCh37 Chromosome 10, 123357643: 123357643
45 FGFR2 NM_000141.4(FGFR2): c.-318G> C single nucleotide variant Benign rs41301547 GRCh38 Chromosome 10, 121598129: 121598129
46 FGFR2 NM_000141.4(FGFR2): c.-535G> C single nucleotide variant Uncertain significance rs886046767 GRCh37 Chromosome 10, 123357860: 123357860
47 FGFR2 NM_000141.4(FGFR2): c.-535G> C single nucleotide variant Uncertain significance rs886046767 GRCh38 Chromosome 10, 121598346: 121598346
48 FGFR2 NM_000141.4(FGFR2): c.*1301C> T single nucleotide variant Likely benign rs71640261 GRCh37 Chromosome 10, 123238070: 123238070
49 FGFR2 NM_000141.4(FGFR2): c.*1301C> T single nucleotide variant Likely benign rs71640261 GRCh38 Chromosome 10, 121478556: 121478556
50 FGFR2 NM_000141.4(FGFR2): c.*1126T> C single nucleotide variant Uncertain significance rs370106008 GRCh37 Chromosome 10, 123238245: 123238245
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 72
Show member pathways
 11.98 FGFR2 FGFR3
2
mTOR signalling 66
Show member pathways
 11.94 FGFR2 FGFR3
3
RhoGDI Pathway 64
Show member pathways
 11.93 FGFR2 FGFR3
4
Endocytosis 37
11.91 FGFR2 FGFR3
5
Signaling by FGFR2 66
Show member pathways
 11.8 FGFR2 FGFR3
6
MAPK Signaling: Mitogen Stimulation Pathway 65
Show member pathways
 11.75 FGFR2 FGFR3
7
VEGF Signaling Pathway 61 67
Show member pathways
 11.73 FGFR2 FGFR3
8
Signaling by FGFR2 in disease 66
Show member pathways
 11.66 FGFR2 FGFR3
9
AKT Signaling Pathway 67
11.65 FGFR2 FGFR3
10
Tyrosine Kinases / Adaptors 4
11.57 FGFR2 FGFR3
11
Signaling pathways regulating pluripotency of stem cells 37
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 37
10.97 FGFR2 FGFR3
15
G-protein signaling_Cross-talk between Ras-family GTPases 22
10.96 FGFR2 FGFR3
16
Alzheimers Disease Pathway 64
10.61 FGFR2 FGFR3
17
Cytoskeleton remodeling_RalB regulation pathway 22
10.58 FGFR2 FGFR3
18
Vemurafenib Pathway, Pharmacodynamics 61
10.25 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 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.55 FGFR2 FGFR3
2 cell-cell signaling GO:0007267 9.54 FGFR2 FGFR3
3 MAPK cascade GO:0000165 9.52 FGFR2 FGFR3
4 peptidyl-tyrosine phosphorylation GO:0018108 9.51 FGFR2 FGFR3
5 protein autophosphorylation GO:0046777 9.49 FGFR2 FGFR3
6 positive regulation of protein kinase B signaling GO:0051897 9.48 FGFR2 FGFR3
7 positive regulation of MAPK cascade GO:0043410 9.46 FGFR2 FGFR3
8 negative regulation of signal transduction GO:0009968 9.43 FGFR2 FGFR3
9 phosphatidylinositol phosphorylation GO:0046854 9.4 FGFR2 FGFR3
10 fibroblast growth factor receptor signaling pathway GO:0008543 9.37 FGFR2 FGFR3
11 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.32 FGFR2 FGFR3
12 bone mineralization GO:0030282 9.26 FGFR2 FGFR3
13 bone morphogenesis GO:0060349 9.16 FGFR2 FGFR3
14 positive regulation of phospholipase activity GO:0010518 8.96 FGFR2 FGFR3
15 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 transmembrane signaling receptor activity GO:0004888 9.46 FGFR2 FGFR3
2 protein tyrosine kinase activity GO:0004713 9.43 FGFR2 FGFR3
3 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.4 FGFR2 FGFR3
4 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.37 FGFR2 FGFR3
5 nucleotide binding GO:0000166 9.33 FGFR2 FGFR3 RAB23
6 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.32 FGFR2 FGFR3
7 1-phosphatidylinositol-3-kinase activity GO:0016303 9.26 FGFR2 FGFR3
8 fibroblast growth factor binding GO:0017134 8.96 FGFR2 FGFR3
9 fibroblast growth factor-activated receptor activity GO:0005007 8.62 FGFR2 FGFR3
Sources

Sources for Beare-Stevenson Cutis Gyrata Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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