Disease browser and phenotype portal

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

Disease Browser
Parent Node: Lipid Metabolism, Inborn Errors (D008052)
Parent Node: Nervous System Diseases (D009422)
..Starting node ..Alpha-Methylacyl-CoA Racemase Deficiency (C565768)
Child Nodes:
Sister Nodes:
..Alpha-Methylacyl-CoA Racemase Deficiency (C565768)
..Autoimmune Diseases of the Nervous System (D020274) 60
..Autonomic Nervous System Diseases (D001342) 51
..Central Nervous System Diseases (D002493) 1489
..Chronobiology Disorders (D021081) 5
..Congenital Cataracts, Facial Dysmorphism, And Neuropathy (C565822)
..Cranial Nerve Diseases (D003389) 238
..Demyelinating Diseases (D003711) 75
..Marcus Gunn phenomenon (C535908)
..Nervous System Malformations (D009421) 567
..Nervous System Neoplasms (D009423) 89
..Neurocutaneous Syndromes (D020752) 42
..Neurodegenerative Diseases (D019636) 704
..Neurologic Disease, Infantile Multisystem, with Osseous Fragility (C564954)
..Neurologic Manifestations (D009461) 1586
..Neuromuscular Diseases (D009468) 811
..Neuronal intestinal pseudoobstruction (C537394)
..Neurotoxicity Syndromes (D020258) 20
..Norrie disease (C537849)
..Polyglucosan Body Disease, Adult Form (C564878)
..Restless Legs Syndrome (D012148) 2
..Roy Maroteaux Kremp syndrome (C535875)
..Sleep Disorders (D012893) 41
..Tang Hsi Ryu syndrome (C536897)
..Trauma, Nervous System (D020196) 73
..Trifunctional Protein Deficiency With Myopathy And Neuropathy (C566945)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

474

Name:

Alpha-Methylacyl-CoA Racemase Deficiency

Definition:

Alternative IDs:

ParentIDs:

MESH:D008052|MESH:D009422

TreeNumbers:

C10/C565768 |C16.320.565.398/C565768 |C18.452.584.562/C565768 |C18.452.648.398/C565768

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: C565768
MeSH: C565768
OMIM: 614307;

Genes: AMACR;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001251	Ataxia	HP:0040283
3	HP:0000716	Depression
4	HP:0000815	Hypergonadotropic hypogonadism
5	HP:0002076	Migraine
6	HP:0003812	Phenotypic variability
7	HP:0000580	Pigmentary retinopathy	HP:0040282
8	HP:0007141	Sensorimotor neuropathy
9	HP:0001257	Spasticity
10	HP:0002133	Status epilepticus
11	HP:0001337	Tremor	HP:0040283
12	HP:0000505	Visual impairment

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_014324.5(AMACR):c.154T>C (p.Ser52Pro)	-1	-	Pathogenic	121917814	RCV000005858; RCV000005859;	N	MedGen:C1858325,OMIM:614307; MedGen:C1858328,OMIM:214950,ORPHA:79095	5	34007971	34007971	NM_014324.5:c.154T>C	NP_055139.4:p.Ser52Pro	NC_000005.9:g.34007971A>G	OMIM Allelic Variant:604489.0001	C1858325 614307 Alpha-methylacyl-CoA racemase deficiency; C1858328 214950 Bile acid synthesis defect, congenital, 4