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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

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Disease Browser
Parent Node: Amino Acid Metabolism, Inborn Errors (D000592)
..Starting node ..succinic semialdehyde dehydrogenase deficiency (C535803)
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:

10743

Name:

succinic semialdehyde dehydrogenase deficiency

Definition:

Alternative IDs:

OMIM:271980

ParentIDs:

MESH:D000592

TreeNumbers:

C16.320.565.100/C535803 |C18.452.648.100/C535803

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C535803
MeSH: C535803
OMIM: 271980;

Genes: ALDH5A1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0000496	Abnormality of eye movement
4	HP:0001939	Abnormality of metabolism/homeostasis
5	HP:0000718	Aggressive behavior
6	HP:0000739	Anxiety
7	HP:0001251	Ataxia
8	HP:0000717	Autism
9	HP:0002069	Bilateral tonic-clonic seizure
10	HP:0000750	Delayed speech and language development
11	HP:0002353	EEG abnormality
12	HP:0001290	Generalized hypotonia
13	HP:0002123	Generalized myoclonic seizure
14	HP:0002121	Generalized non-motor (absence) seizure
15	HP:0001263	Global developmental delay
16	HP:0000738	Hallucinations
17	HP:0000752	Hyperactivity
18	HP:0002487	Hyperkinetic movements
19	HP:0001265	Hyporeflexia
20	HP:0001252	Hypotonia
21	HP:0001249	Intellectual disability
22	HP:0001270	Motor delay
23	HP:0003812	Phenotypic variability
24	HP:0000709	Psychosis
25	HP:0100716	Self-injurious behavior
26	HP:0002133	Status epilepticus

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_170740.1(ALDH5A1):c.612G>A (p.Trp204Ter)	7915	ALDH5A1	Pathogenic	118203982	RCV000001422;	N	MedGen:C0268631,OMIM:271980,ORPHA:22,SNOMED CT:49748000	6	24505099	24505099	NM_170740.1:c.612G>A	NP_733936.1:p.Trp204Ter	NC_000006.11:g.24505099G>A	OMIM Allelic Variant:610045.0003	C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency
NG_008161.1:g.31299_33753del2455	7915	ALDH5A1	Pathogenic	-1	RCV000001425;	N	MedGen:C0268631,OMIM:271980,ORPHA:22,SNOMED CT:49748000	6	24521495	24523949	-	-		OMIM Allelic Variant:610045.0006,dbVar:nssv3761546,dbVar:nsv1067912	C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp)	7915	ALDH5A1	Pathogenic	118203984	RCV000001424;	N	MedGen:C0268631,OMIM:271980,ORPHA:22,SNOMED CT:49748000	6	24528277	24528277	NM_001080.3:c.1226G>A	NP_001071.1:p.Gly409Asp	NC_000006.11:g.24528277G>A	OMIM Allelic Variant:610045.0005	C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency
NM_170740.1(ALDH5A1):c.1273C>T (p.Arg425Ter)	7915	ALDH5A1	Pathogenic	118203983	RCV000001423;	N	MedGen:C0268631,OMIM:271980,ORPHA:22,SNOMED CT:49748000	6	24528285	24528285	NM_170740.1:c.1273C>T	NP_733936.1:p.Arg425Ter	NC_000006.11:g.24528285C>T	OMIM Allelic Variant:610045.0004	C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency
NG_008161.1:g.38199_38201delGTAinsTT	7915	ALDH5A1	Pathogenic	875989801	RCV000211103;	N	MedGen:C0268631,OMIM:271980,ORPHA:22,SNOMED CT:49748000	6	24528395	24528397	NM_170740.1:c.1382+1_1382+3delinsTT		NC_000006.11:g.24528395_24528397delGTAinsTT	-	C0268631 271980 Succinate-semialdehyde dehydrogenase deficiency