Disease browser and phenotype portal

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MSeqDR-LSDB
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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

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

Disease Browser
Parent Node: Apraxias (D001072)
Parent Node: Epilepsy, Rolandic (D019305)
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Intellectual Disability (D008607)
Parent Node: Speech Disorders (D013064)
..Starting node ..Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked (C564467)
Child Nodes:
Sister Nodes:
..Aphasia (D001037) 6
..Arginine:Glycine Amidinotransferase Deficiency (C567192)
..Articulation Disorders (D001184) 7
..Atonic-Astatic Syndrome of Foerster (C565926)
..CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
..Echolalia (D004454)
..Maxillofacial Dysostosis (C563599)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
..Mutism (D009155)
..Non-lissencephalic cortical dysplasia (C536243)
..Opticocochleodentate Degeneration (C563002)
..Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked (C564467)
..Speech disturbance - use of faulty phrasing and unrelated words (C538446)
..Stuttering (D013342) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9898

Name:

Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked

Definition:

Alternative IDs:

OMIM:300643

ParentIDs:

MESH:D001072|MESH:D008607|MESH:D013064|MESH:D019305|MESH:D040181

TreeNumbers:

C10.228.140.490.360.280/C564467 |C10.597.606.150.500.800/C564467 |C10.597.606.643/C564467 |C10.597.606.881.350/C564467 |C16.320.322/C564467 |C23.888.592.604.080/C564467 |C23.888.592.604.150.500.800/C564467 |C23.888.592.604.646/C564467 |C23.888.592.604.882.350/C5

Synonyms:

RESDX

Slim Mappings:

Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms

Reference:

MedGen: C564467
MeSH: C564467
OMIM: 300643;

Genes: SRPX2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0007359	Focal-onset seizure
3	HP:0001256	Intellectual disability, mild
4	HP:0007095	obsolete Frontoparietal polymicrogyria
5	HP:0011098	Speech apraxia

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_014467.2(SRPX2):c.215A>C (p.Tyr72Ser)	27286	SRPX2	Pathogenic	121918364	RCV000011523;	N	MedGen:C1845070,OMIM:300643	X	99917224	99917224	NM_014467.2:c.215A>C	NP_055282.1:p.Tyr72Ser	NC_000023.10:g.99917224A>C	OMIM Allelic Variant:300642.0002	C1845070 300643 Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked
NM_014467.2(SRPX2):c.980A>G (p.Asn327Ser)	27286	SRPX2	Uncertain significance	121918363	RCV000011522; RCV000081635; RCV000189573;	N	MedGen:C1845070,OMIM:300643; MedGen:CN169374; MedGen:CN221809	X	99922289	99922289	NM_014467.2:c.980A>G	NP_055282.1:p.Asn327Ser	NC_000023.10:g.99922289A>G	HGMD:CM061219,OMIM Allelic Variant:300642.0001	CN221809 not provided; CN169374 not specified; C1845070 300643 Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked