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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: Epilepsy (D004827)
Parent Node: Intellectual Disability (D008607)
Parent Node: Muscle Hypotonia (D009123)
Parent Node: Speech Disorders (D013064)
Parent Node: Stereotypic Movement Disorder (D019956)
..Starting node ..MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Child Nodes:
Sister Nodes:
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6974

Name:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 20

Definition:

Alternative IDs:

ParentIDs:

MESH:D004827|MESH:D008607|MESH:D009123|MESH:D013064|MESH:D019956

TreeNumbers:

C10.228.140.490/613443 |C10.597.606.150.500.800/613443 |C10.597.606.643/613443 |C10.597.613.575/613443 |C23.888.592.604.150.500.800/613443 |C23.888.592.604.646/613443 |C23.888.592.608.575/613443 |F03.550.600/613443 |F03.550.787/613443

Synonyms:

MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS CHROMOSOME 5q14.3 DELETION SYNDROME, INCLUDED |MRD20

Slim Mappings:

Mental disorder|Nervous system disease|Signs and symptoms

Reference:

MedGen: 613443
MeSH: 613443
OMIM: 613443;

Genes: MEF2C;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002518	Abnormal periventricular white matter morphology	HP:0040283
3	HP:0000463	Anteverted nares
4	HP:0000337	Broad forehead
5	HP:0005280	Depressed nasal bridge
6	HP:0002714	Downturned corners of mouth
7	HP:0200134	Epileptic encephalopathy	HP:0040283
8	HP:0001290	Generalized hypotonia
9	HP:0000316	Hypertelorism
10	HP:0002540	Inability to walk
11	HP:0010864	Intellectual disability, severe
12	HP:0000369	Low-set ears
13	HP:0001270	Motor delay
14	HP:0000817	Poor eye contact
15	HP:0001250	Seizure
16	HP:0000331	Short chin
17	HP:0003196	Short nose
18	HP:0000322	Short philtrum
19	HP:0003745	Sporadic
20	HP:0000582	Upslanted palpebral fissure
21	HP:0002119	Ventriculomegaly

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
NM_002397.4(MEF2C):c.1403C>T (p.Ser468Phe)	4208	MEF2C	Uncertain significance	607159	RCV000146361;	N	MedGen:C3150700,OMIM:613443,ORPHA:228384	5	88018440	88018440	NM_002397.4:c.1403C>T	NP_002388.2:p.Ser468Phe	NC_000005.9:g.88018440G>A	-	C3150700 613443 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
NM_002397.4(MEF2C):c.833delT (p.Leu278Terfs)	4208	MEF2C	Pathogenic	587783749	RCV000146367;	N	MedGen:C3150700,OMIM:613443,ORPHA:228384	5	88026029	88026029	NM_002397.4:c.833delT	NP_002388.2:p.Leu278Terfs	NC_000005.9:g.88026029delA	-	C3150700 613443 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
NM_001131005.2(MEF2C):c.677C>G (p.Ser226Ter)	4208	MEF2C	Pathogenic	267607233	RCV000009503;	N	MedGen:C3150700,OMIM:613443,ORPHA:228384	5	88027673	88027673	NM_001131005.2:c.677C>G	NP_001124477.1:p.Ser226Ter	NC_000005.9:g.88027673G>C	OMIM Allelic Variant:600662.0001	C3150700 613443 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
NM_002397.4(MEF2C):c.585C>T (p.Asn195=)	4208	MEF2C	Uncertain significance	398123686	RCV000146363; RCV000080006;	N	MedGen:C3150700,OMIM:613443,ORPHA:228384; MedGen:CN221809	5	88047678	88047678	NM_002397.4:c.585C>T	NP_002388.2:p.Asn195=	NC_000005.9:g.88047678G>A	-	C3150700 613443 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations; CN221809 not provided
NM_002397.4(MEF2C):c.565C>T (p.Arg189Ter)	4208	MEF2C	Pathogenic	587783747	RCV000146362;	N	MedGen:C3150700,OMIM:613443,ORPHA:228384	5	88047698	88047698	NM_002397.4:c.565C>T	NP_002388.2:p.Arg189Ter	NC_000005.9:g.88047698G>A	-	C3150700 613443 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
NM_002397.4(MEF2C):c.458delA (p.Asn153Thrfs)	4208	MEF2C	Pathogenic	730882192	RCV000033232;	N	MedGen:C3150700,OMIM:613443,ORPHA:228384	5	88047805	88047805	NM_002397.4:c.458delA	NP_002388.2:p.Asn153Thrfs	NC_000005.9:g.88047805delT	OMIM Allelic Variant:600662.0005	C3150700 613443 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
NM_001131005.2(MEF2C):c.113T>A (p.Leu38Gln)	4208	MEF2C	Pathogenic	397514655	RCV000033229;	N	MedGen:C3150700,OMIM:613443,ORPHA:228384	5	88100560	88100560	NM_001131005.2:c.113T>A	NP_001124477.1:p.Leu38Gln	NC_000005.9:g.88100560A>T	OMIM Allelic Variant:600662.0002	C3150700 613443 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
NM_001131005.2(MEF2C):c.80G>C (p.Gly27Ala)	4208	MEF2C	Pathogenic	397514656	RCV000033231;	N	MedGen:C3150700,OMIM:613443,ORPHA:228384	5	88100593	88100593	NM_001131005.2:c.80G>C	NP_001124477.1:p.Gly27Ala	NC_000005.9:g.88100593C>G	OMIM Allelic Variant:600662.0004	C3150700 613443 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
NM_001131005.2(MEF2C):c.71G>A (p.Arg24Lys)	4208	MEF2C	Pathogenic	869312698	RCV000209864;	N	MedGen:C3150700,OMIM:613443,ORPHA:228384	5	88100602	88100602	NM_001131005.2:c.71G>A	NP_001124477.1:p.Arg24Lys	NC_000005.9:g.88100602C>T	-	C3150700 613443 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
NM_002397.4(MEF2C):c.68A>G (p.Lys23Arg)	4208	MEF2C	Likely pathogenic	797045053	RCV000191104;	N	MedGen:C3150700,OMIM:613443,ORPHA:228384	5	88100605	88100605	NM_002397.4:c.68A>G	NP_002388.2:p.Lys23Arg	NC_000005.9:g.88100605T>C	-	C3150700 613443 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
NM_002397.4(MEF2C):c.2T>C (p.Met1Thr)	4208	MEF2C	Pathogenic	545185248	RCV000192846;	N	MedGen:C3150700,OMIM:613443,ORPHA:228384	5	88119604	88119604	NM_002397.4:c.2T>C	NP_002388.2:p.Met1Thr	NC_000005.9:g.88119604A>G	-	C3150700 613443 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations