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: Angiomatosis (D000798)
Parent Node: Hemangioma (D006391)
Parent Node: Neurocutaneous Syndromes (D020752)
..Starting node ..Sturge-Weber Syndrome (D013341)
Child Nodes:
........Worster Drought syndrome (C536747)
Sister Nodes:
..Angioma hereditary neurocutaneous (C536364)
..Ataxia Telangiectasia (D001260) 6
..Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (C537943)
..Elejalde Disease (C536203)
..Encephalocraniocutaneous lipomatosis (C535736)
..Gomez Lopez Hernandez syndrome (C537285)
..Johnson neuroectodermal syndrome (C535882)
..Neurocutaneous melanosis (C537387)
..Neurofibromatoses (D017253) 13
..Nevus, Sebaceous of Jadassohn (D054000) 1
..PHACE association (C537892)
..Phacomatosis pigmentovascularis (C537894)
..Sturge-Weber Syndrome (D013341) 1
..Tuberous Sclerosis (D014402) 4
..von Hippel-Lindau Disease (D006623)
..Wyburn Mason's syndrome (C536752)
..Zunich neuroectodermal syndrome (C536729)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10716

Name:

Sturge-Weber Syndrome

Definition:

A non-inherited congenital condition with vascular and neurological abnormalities. It is characterized by facial vascular nevi (PORT-WINE STAIN), and capillary angiomatosis of intracranial membranes (MENINGES; CHOROID). Neurological features include EPILEPSY; cognitive deficits; GLAUCOMA; and visual defects.

Alternative IDs:

OMIM:608355

ParentIDs:

MESH:D000798|MESH:D006391|MESH:D020752

TreeNumbers:

C04.557.645.375.850 |C10.562.800 |C14.907.077.850

Synonyms:

Angiomatosis, Meningo-Oculo-Facial |Angiomatosis Oculoorbital-Thalamic Syndrome |Encephalofacial Hemangiomatosis Syndrome |Hemangiomatosis Syndrome, Encephalofacial |Meningofacial Angiomatosis-Cerebral Calcification Syndrome |Meningo Oculo Facial Angiomatosis

Slim Mappings:

Cancer|Cardiovascular disease|Nervous system disease

Reference:

MedGen: D013341
MeSH: D013341
OMIM: 608355;

Genes: RASA1;

Phenotypes

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_002890.2(RASA1):c.475_476delCT (p.Leu159Glyfs)	5921	RASA1	Pathogenic	797044451	RCV000017370; RCV000017371; RCV000200157;	N	MedGen:C1842180,OMIM:608354,ORPHA:137667; MedGen:CN074207,OMIM:608355; MedGen:CN221809	5	86564743	86564744	NM_002890.2:c.475_476delCT	NP_002881.1:p.Leu159Glyfs	NC_000005.9:g.86564743_86564744delCT	OMIM Allelic Variant:139150.0004	C1842180 608354 Capillary malformation-arteriovenous malformation; CN221809 not provided; CN074207 608355 Parkes Weber syndrome