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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)
..Starting node ..Aminoacylase 1 deficiency (C538246)
Child Nodes:
Sister Nodes:
..2-Methylacetoacetyl CoA thiolase deficiency (C535307)
..2-Methylbutyryl-CoA Dehydrogenase Deficiency (C566487)
..3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (C538324)
..3-Hydroxyisobutyric aciduria (C535312)
..5-oxoprolinase deficiency (C535322)
..Acidemia, isovaleric (C538167)
..Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)
..Adams Nance syndrome (C538224)
..Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..Albinism (D000417) 30
..Alkaptonuria (D000474)
..Alpha-ketoglutarate dehydrogenase deficiency (C536582)
..Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
..Aminoacylase 1 deficiency (C538246)
..Arakawa syndrome 2 (C537426)
..Arginine:Glycine Amidinotransferase Deficiency (C567192)
..Aromatic amino acid decarboxylase deficiency (C537437)
..Beta ketothiolase deficiency (C535434)
..Beta-Aminoisobutyric Acid, Urinary Excretion of (C565904)
..Beta-Hydroxyisobutyryl CoA Deacylase Deficiency (C562803)
..Blue diaper syndrome (C536239)
..Camptodactyly taurinuria (C537972)
..Carboxypeptidase N Deficiency (C562876)
..Cystathionase Deficiency (C562680)
..Cysteine Peptiduria (C565659)
..Diaminopentanuria (C565630)
..Dibasic Amino Aciduria I (C567132)
..Dimethylglycine Dehydrogenase Deficiency (C565278)
..Gamma aminobutyric acid transaminase deficiency (C535407)
..Glucoglycinuria (C562670)
..Glutamate Monosodium Sensitivity (C562377)
..Glutamine deficiency, congenital (C536832)
..Glutaric aciduria 1 (C536833)
..Glutaric Aciduria III (C562818)
..Glutathione synthetase deficiency (C536835)
..Glutathionuria (C536836)
..Glycine N-Methyltransferase Deficiency (C564683)
..Glycinuria with or without Oxalate Urolithiasis (C563009)
..Histidinemia (C538320)
..Homocarnosinosis (C535328)
..Hydroxykynureninuria (C536081)
..Hydroxyprolinemia (C562669)
..Hyperglycinemia, Nonketotic (D020158) 1
..HYPERGLYCINURIA (OMIM:138500)
..Hyperhomocysteinemia (D020138) 8
..Hyperleucine-Isoleucinemia (C562674)
..Hyperlysinemias (D020167) 3
..Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase (C566700)
..Hyperprolinemia (C538384)
..Hyperprolinemia type 2 (C538385)
..Hypertaurinuric Cardiomyopathy (C564157)
..Hypertryptophanemia (C538393)
..Hypertryptophanemia, Familial (C563467)
..Ichthyosis, Split Hairs, and Amino Aciduria (C565471)
..Indolylacroyl Glycinuria with Mental Retardation (C565466)
..Isobutyryl-CoA dehydrogenase deficiency (C535541)
..Ketoadipicaciduria (C565453)
..Lysine Malabsorption Syndrome (C563080)
..Lysinuric Protein Intolerance (C562687)
..Maple Syrup Urine Disease (D008375) 5
..Mercaptolactate-Cysteine Disulfiduria (C563085)
..Methionine Adenosyltransferase Deficiency (C562681)
..Methionine Malabsorption Syndrome (C562682)
..Methylmalonate Semialdehyde Dehydrogenase Deficiency (C566402)
..Methylmalonic acidemia (C537358) 1
..Methylmalonic acidemia with homocystinuria (C537359)
..Methylmalonic Aciduria and Homocystinuria, CblD Type (C564743)
..Methylmalonic Aciduria and Homocystinuria, CblF Type (C564747)
..Methylmalonic aciduria cblA type (C537360)
..Methylmalonic aciduria cblB type (C537361)
..Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency (C565390)
..Methylmalonyl-CoA Epimerase Deficiency (C565386)
..Methylmalonyl-CoA Epimerase Deficiency with Sepiapterin Reductase Deficiency (C565387)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
..Multiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) 1
..Multiple Carboxylase Deficiency (D009100) 4
..Myopathy due to Malate-Aspartate Shuttle Defect (C564973)
..Phenylketonurias (D010661) 8
..Prolidase Deficiency (D056732)
..Propionic Acidemia (D056693) 1
..Richards-Rundle syndrome (C535674)
..Sarcosinemia (C537236)
..succinic semialdehyde dehydrogenase deficiency (C535803)
..Sulfite oxidase deficiency (C538141)
..Tiglic acidemia (C536921)
..Tryptophanuria With Dwarfism (C562658)
..Tyrosinemias (D020176) 1
..Tyrosinosis (C562659)
..Urea Cycle Disorders, Inborn (D056806) 16
..Urocanase deficiency (C536479)
..Valinemia (C536524)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

551

Name:

Aminoacylase 1 deficiency

Definition:

Alternative IDs:

OMIM:609924

ParentIDs:

MESH:D000592

TreeNumbers:

C16.320.565.100/C538246 |C18.452.648.100/C538246

Synonyms:

ACY1D |Deficiency of the aminoacylase-1 enzyme

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C538246
MeSH: C538246
OMIM: 609924;

Genes: ACY1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0006846	Acute encephalopathy
3	HP:0001272	Cerebellar atrophy
4	HP:0002059	Cerebral atrophy
5	HP:0002188	Delayed CNS myelination
6	HP:0001290	Generalized hypotonia
7	HP:0001263	Global developmental delay
8	HP:0000752	Hyperactivity
9	HP:0000316	Hypertelorism
10	HP:0001252	Hypotonia
11	HP:0001324	Muscle weakness
12	HP:0003812	Phenotypic variability
13	HP:0001250	Seizure
14	HP:0000407	Sensorineural hearing impairment
15	HP:0000431	Wide nasal bridge

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_000666.2(ACY1):c.360-1G>A	-1	-	Pathogenic	672601330	RCV000019740;	N	MedGen:C1835922,OMIM:609924,ORPHA:137754	3	52020270	52020270	NM_000666.2:c.360-1G>A		NC_000003.11:g.52020270G>A	OMIM Allelic Variant:104620.0004	C1835922 609924 Aminoacylase 1 deficiency
NM_000666.2(ACY1):c.589C>T (p.Arg197Trp)	-1	-	Pathogenic	121912700	RCV000019741;	N	MedGen:C1835922,OMIM:609924,ORPHA:137754	3	52021009	52021009	NM_000666.2:c.589C>T	NP_000657.1:p.Arg197Trp	NC_000003.11:g.52021009C>T	OMIM Allelic Variant:104620.0005	C1835922 609924 Aminoacylase 1 deficiency
NM_000666.2(ACY1):c.699A>C (p.Glu233Asp)	-1	-	Pathogenic	121912699	RCV000019739;	N	MedGen:C1835922,OMIM:609924,ORPHA:137754	3	52021204	52021204	NM_000666.2:c.699A>C	NP_000657.1:p.Glu233Asp	NC_000003.11:g.52021204A>C	OMIM Allelic Variant:104620.0003	C1835922 609924 Aminoacylase 1 deficiency
NM_000666.2(ACY1):c.1001_1001+5delTGTGAG	-1	-	Pathogenic	672601350	RCV000149440;	N	MedGen:C1835922,OMIM:609924,ORPHA:137754	3	52022619	52022624	NM_000666.2:c.1001_1001+5delTGTGAG		NC_000003.11:g.52022619_52022624delTGTGAG	OMIM Allelic Variant:104620.0007	C1835922 609924 Aminoacylase 1 deficiency
NM_000666.2(ACY1):c.1057C>T (p.Arg353Cys)	-1	-	Pathogenic	121912698	RCV000019738;	N	MedGen:C1835922,OMIM:609924,ORPHA:137754	3	52022837	52022837	NM_000666.2:c.1057C>T	NP_000657.1:p.Arg353Cys	NC_000003.11:g.52022837C>T	OMIM Allelic Variant:104620.0002	C1835922 609924 Aminoacylase 1 deficiency
NM_000666.2(ACY1):c.1104_1105dupAC (p.Pro369Hisfs)	-1	-	Pathogenic	387906579	RCV000019737;	N	MedGen:C1835922,OMIM:609924,ORPHA:137754	3	52022968	52022969	NM_000666.2:c.1104_1105dupAC	NP_000657.1:p.Pro369Hisfs	NC_000003.11:g.52022968_52022969dupAC	OMIM Allelic Variant:104620.0001	C1835922 609924 Aminoacylase 1 deficiency
NM_000666.2(ACY1):c.1178G>A (p.Arg393His)	-1	-	Pathogenic	121912701	RCV000019742;	N	MedGen:C1835922,OMIM:609924,ORPHA:137754	3	52023042	52023042	NM_000666.2:c.1178G>A	NP_000657.1:p.Arg393His	NC_000003.11:g.52023042G>A	OMIM Allelic Variant:104620.0006	C1835922 609924 Aminoacylase 1 deficiency