Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Acanthosis Nigricans (D000052)
Parent Node: Craniosynostoses (D003398)
Parent Node: Scalp Dermatoses (D012536)
Parent Node: Skin Abnormalities (D012868)
..Starting node ..Cutis Gyrata Syndrome of Beare And Stevenson (C565129)
Child Nodes:
Sister Nodes:
..Acrodermatitis (D000169) 1
..Anetoderma (D057088) 2
..Arthropathy, Erosive (C565273)
..Barber Say syndrome (C537908)
..Blepharophimosis syndrome type 1 (C536233)
..Blepharophimosis syndrome type 2 (C536234)
..Blepharophimosis with ptosis, syndactyly, and short stature (C536235)
..Blepharophimosis, Ptosis, and Epicanthus Inversus (C562419)
..Book Syndrome (C562993)
..Carney Complex (D056733) 1
..COCOON SYNDROME (OMIM:613630)
..Comedones, Familial Dyskeratotic (C562838)
..Cutis Gyrata Syndrome of Beare And Stevenson (C565129)
..Dermal Ridges, Nelson Syndrome (C565110)
..Dermal Ridges, Patternless (C565109)
..Dermoodontodysplasia (C565103)
..Dyskeratosis Congenita (D019871) 3
..Dyskeratosis, Hereditary Benign Intraepithelial (C562551)
..Ectodermal Dysplasia (D004476) 144
..Ehlers-Danlos Syndrome (D004535) 23
..Epidermolysis Bullosa (D004820) 29
..Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract (C565584)
..Familial popliteal pterygium syndrome (C535891)
..Hairy palms and soles (C535620)
..Hemangiomatosis, Cutaneous, with Associated Features (C562438)
..Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations (C566153)
..Hypohidrosis aith Abnormal Palmar Dermal Ridges (C565481)
..Ichthyosis (D007057) 66
..Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin (C563402)
..Incontinentia Pigmenti (D007184) 2
..Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..Michelin tire baby syndrome (C537575)
..Microphthalmia, syndromic 7 (C537466)
..Multiple pterygium syndrome (C537377) 1
..Oculocerebrocutaneous syndrome (C538088)
..Poikiloderma with Neutropenia (C565820)
..Poikiloderma, Hereditary Sclerosing (C562824)
..Port-Wine Stain (D019339) 4
..Prolidase Deficiency (D056732)
..Pseudoxanthoma Elasticum (D011561) 2
..Pterygium Colli, Isolated (C566741)
..Ridges-off-the-end syndrome (C531754)
..Rothmund-Thomson Syndrome (D011038) 5
..Sclerema Neonatorum (D012593)
..Skin/Hair/Eye Pigmentation, Variation In, 10 (C567376)
..Skin/Hair/Eye Pigmentation, Variation In, 11 (C567374)
..Skin/Hair/Eye Pigmentation, Variation In, 4 (C567300)
..Skin/Hair/Eye Pigmentation, Variation In, 5 (C567119)
..Skin/Hair/Eye Pigmentation, Variation In, 6 (C567139)
..Skin/Hair/Eye Pigmentation, Variation In, 7 (C567155)
..Skin/Hair/Eye Pigmentation, Variation In, 8 (C567096)
..Skin/Hair/Eye Pigmentation, Variation In, 9 (C567091)
..Tight skin contracture syndrome, lethal (C536920)
..Trichothiodystrophy Syndromes (D054463) 5
..Urban Schosser Spohn syndrome (C536476)
..Vascular Hyalinosis (C564750)
..Winter Shortland Temple syndrome (C536735)
..Xeroderma Pigmentosum (D014983) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2898

Name:

Cutis Gyrata Syndrome of Beare And Stevenson

Definition:

Alternative IDs:

OMIM:123790

ParentIDs:

MESH:D000052|MESH:D003398|MESH:D012536|MESH:D012868

TreeNumbers:

C05.116.099.370.894.232/C565129 |C05.660.207.240/C565129 |C05.660.207.707.249/C565129 |C05.660.906.364/C565129 |C16.131.621.207.240/C565129 |C16.131.621.207.707.249/C565129 |C16.131.621.906.364/C565129 |C16.131.831/C565129 |C17.800.621.430.530.100/C565129 |C17.80

Synonyms:

Beare-Stevenson Cutis Gyrata Syndrome |BEARE-STEVENSON SYNDROME |BSTVS |CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON |Cutis Gyrata Syndrome of Beare-Stevenson

Slim Mappings:

Congenital abnormality|Musculoskeletal disease|Skin disease

Reference:

MedGen: C565129
MeSH: C565129
OMIM: 123790;

Genes: FGFR2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000956	Acanthosis nigricans
3	HP:0001274	Agenesis of corpus callosum
4	HP:0001545	Anteriorly placed anus
5	HP:0000048	Bifid scrotum
6	HP:0000453	Choanal atresia
7	HP:0000452	Choanal stenosis
8	HP:0002676	Cloverleaf skull
9	HP:0001363	Craniosynostosis
10	HP:0000494	Downslanted palpebral fissures
11	HP:0001263	Global developmental delay
12	HP:0000238	Hydrocephalus
13	HP:0000316	Hypertelorism
14	HP:0001377	Limited elbow extension
15	HP:0000368	Low-set, posteriorly rotated ears
16	HP:0000272	Malar flattening
17	HP:0011800	Midface retrusion
18	HP:0000189	Narrow palate
19	HP:0007517	Palmoplantar cutis laxa
20	HP:0004450	Preauricular skin furrow
21	HP:0003246	Prominent scrotal raphe
22	HP:0000520	Proptosis
23	HP:0002098	Respiratory distress
24	HP:0001792	Small nail

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_000141.4(FGFR2):c.1124A>G (p.Tyr375Cys)	2263	FGFR2	Pathogenic	121913478	RCV000014199; RCV000014198;	N	MedGen:C0476089,OMIM:608089,SNOMED CT:254878006; MedGen:C1852406,OMIM:123790,ORPHA:1555	10	123274794	123274794	NM_000141.4:c.1124A>G	NP_000132.3:p.Tyr375Cys	NC_000010.10:g.123274794T>C	OMIM Allelic Variant:176943.0015	C1852406 123790 Cutis Gyrata syndrome of Beare and Stevenson; C0476089 608089 Endometrial carcinoma
NM_000141.4(FGFR2):c.1115C>G (p.Ser372Cys)	2263	FGFR2	Pathogenic	121913477	RCV000014200;	N	MedGen:C1852406,OMIM:123790,ORPHA:1555	10	123274803	123274803	NM_000141.4:c.1115C>G	NP_000132.3:p.Ser372Cys	NC_000010.10:g.123274803G>C	OMIM Allelic Variant:176943.0016	C1852406 123790 Cutis Gyrata syndrome of Beare and Stevenson