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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: Amino Acid Metabolism, Inborn Errors (D000592)
Parent Node: Developmental Disabilities (D002658)
Parent Node: Intellectual Disability (D008607)
Parent Node: Speech Disorders (D013064)
..Starting node ..Arginine:Glycine Amidinotransferase Deficiency (C567192)
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:

846

Name:

Arginine:Glycine Amidinotransferase Deficiency

Definition:

Alternative IDs:

OMIM:612718

ParentIDs:

MESH:D000592|MESH:D002658|MESH:D008607|MESH:D013064

TreeNumbers:

C10.597.606.150.500.800/C567192 |C10.597.606.643/C567192 |C16.320.565.100/C567192 |C18.452.648.100/C567192 |C23.888.592.604.150.500.800/C567192 |C23.888.592.604.646/C567192 |F03.550.362/C567192 |F03.550.600/C567192

Synonyms:

Slim Mappings:

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

Reference:

MedGen: C567192
MeSH: C567192
OMIM: 612718;

Genes: GATM;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0012113	Abnormal circulating creatine concentration
4	HP:0000717	Autism
5	HP:0000750	Delayed speech and language development
6	HP:0001508	Failure to thrive
7	HP:0001263	Global developmental delay
8	HP:0003391	Gowers sign	HP:0040283
9	HP:0001249	Intellectual disability
10	HP:0001992	Organic aciduria

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_001482.2(GATM):c.1111dupA (p.Met371Asnfs)	2628	GATM	Pathogenic	397515542	RCV000049331;	N	MedGen:C2675179,OMIM:612718,ORPHA:35704	15	45656146	45656146	NM_001482.2:c.1111dupA	NP_001473.1:p.Met371Asnfs	NC_000015.9:g.45656146dupT	OMIM Allelic Variant:602360.0002	C2675179 612718 Arginine:glycine amidinotransferase deficiency
NM_001482.2(GATM):c.608A>C (p.Tyr203Ser)	2628	GATM	Pathogenic	397514709	RCV000049334;	N	MedGen:C2675179,OMIM:612718,ORPHA:35704	15	45660335	45660335	NM_001482.2:c.608A>C	NP_001473.1:p.Tyr203Ser	NC_000015.9:g.45660335T>G	OMIM Allelic Variant:602360.0005	C2675179 612718 Arginine:glycine amidinotransferase deficiency
NM_001482.2(GATM):c.505C>T (p.Arg169Ter)	2628	GATM	Pathogenic	397514708	RCV000049332;	N	MedGen:C2675179,OMIM:612718,ORPHA:35704	15	45660438	45660438	NM_001482.2:c.505C>T	NP_001473.1:p.Arg169Ter	NC_000015.9:g.45660438G>A	OMIM Allelic Variant:602360.0003	C2675179 612718 Arginine:glycine amidinotransferase deficiency
NM_001482.2(GATM):c.484+1G>T	2628	GATM	Pathogenic	80338738	RCV000020462;	N	MedGen:C2675179,OMIM:612718,ORPHA:35704	15	45661523	45661523	NM_001482.2:c.484+1G>T		NC_000015.9:g.45661523C>A	-	C2675179 612718 Arginine:glycine amidinotransferase deficiency
NM_001482.2(GATM):c.446G>A (p.Trp149Ter)	2628	GATM	Pathogenic	80338737	RCV000007725;	N	MedGen:C2675179,OMIM:612718,ORPHA:35704	15	45661562	45661562	NM_001482.2:c.446G>A	NP_001473.1:p.Trp149Ter	NC_000015.9:g.45661562C>T	OMIM Allelic Variant:602360.0001	C2675179 612718 Arginine:glycine amidinotransferase deficiency