SSADHD
MCID: SCC001
MIFTS: 59

Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD)

Categories: Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Succinic Semialdehyde Dehydrogenase Deficiency

MalaCards integrated aliases for Succinic Semialdehyde Dehydrogenase Deficiency:

Name: Succinic Semialdehyde Dehydrogenase Deficiency 57 12 73 25 20 43 58 72 36 13 44 15 70
4-Hydroxybutyric Aciduria 57 12 25 20 43 58 72
Gamma-Hydroxybutyric Aciduria 57 12 25 43 58 72
Ssadh Deficiency 57 25 20 43 58 72
Gaba Metabolic Defect 57 20 72
Succinate-Semialdehyde Dehydrogenase Deficiency 29 6
Ssadhd 57 72
Ssadh 12 73
Deficiency, Succinate-Semialdehyde Dehydrogenase 39
Succinate Semialdehyde Dehydrogenase Deficiency 72
Gamma-Hydroxybutyric Acidemia 43
Gamma-Hydroxybutyricaciduria 20
4-Hydroxybutyricaciduria 43

Characteristics:

Orphanet epidemiological data:

58
succinic semialdehyde dehydrogenase deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy,Neonatal; Age of death: adult;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
onset in infancy or early childhood


HPO:

31
succinic semialdehyde dehydrogenase deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset infantile onset childhood onset young adult onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Succinic Semialdehyde Dehydrogenase Deficiency

MedlinePlus Genetics : 43 Succinic semialdehyde dehydrogenase deficiency is a disorder that can cause a variety of neurological problems. People with this condition typically have developmental delay, especially involving speech development; intellectual disability; and decreased muscle tone (hypotonia) soon after birth. About half of those affected experience seizures, difficulty coordinating movements (ataxia), decreased reflexes (hyporeflexia), and behavioral problems. The most common behavioral problems associated with this condition are sleep disturbances, hyperactivity, difficulty maintaining attention, and anxiety. Less frequently, affected individuals may have increased aggression, hallucinations, obsessive-compulsive disorder (OCD), and self-injurious behavior, including biting and head banging. People with this condition can also have problems controlling eye movements. Less common features of succinic semialdehyde dehydrogenase deficiency include uncontrollable movements of the limbs (choreoathetosis), involuntary tensing of the muscles (dystonia), muscle twitches (myoclonus), and a progressive worsening of ataxia.

MalaCards based summary : Succinic Semialdehyde Dehydrogenase Deficiency, also known as 4-hydroxybutyric aciduria, is related to amino acid metabolic disorder and epilepsy, and has symptoms including seizures, ataxia and myoclonic seizures. An important gene associated with Succinic Semialdehyde Dehydrogenase Deficiency is ALDH5A1 (Aldehyde Dehydrogenase 5 Family Member A1), and among its related pathways/superpathways are Alanine, aspartate and glutamate metabolism and Butanoate metabolism. The drugs Neurotransmitter Agents and (3-aminopropyl)(n-butyl)phosphinic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, cortex and globus pallidus, and related phenotypes are intellectual disability and ataxia

Disease Ontology : 12 A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid.

GARD : 20 Succinic semialdehyde dehydrogenase (SSADH) deficiency is a disorder that can cause a variety of neurological and neuromuscular problems. The signs and symptoms can be extremely variable among affected individuals and may include mild to severe intellectual disability ; developmental delay (especially involving speech); hypotonia ; difficulty coordinating movements ( ataxia ); and/or seizures. Some affected individuals may also have decreased reflexes (hyporeflexia); nystagmus ; hyperactivity; and/or behavioral problems. SSADH deficiency is caused by mutations in the ALDH5A1 gene and is inherited in an autosomal recessive manner. Management is generally symptomatic and typically focuses on treating seizures and neurobehavioral issues.

OMIM® : 57 Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare autosomal recessive neurologic disorder in which an enzyme defect in the GABA degradation pathway causes a consecutive elevation of gamma-hydroxybutyric acid (GHB) and GABA. The clinical features include developmental delay, hypotonia, mental retardation, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances (summary by Reis et al., 2012). (271980) (Updated 20-May-2021)

KEGG : 36 Succinic semialdehyde dehydrogenase (SSADH) deficiency, also known as 4-hydroxybutyric aciduria (4-HBA), is an autosomal recessive inborn error of metabolism. Clinical features include intellectual disability with prominent deficits in expressive language, hypotonia, nonprogressive ataxia, and hyporeflexia. The causative gene is aldehyde dehydrogenase 5 family, member A1 (ALDH5A1) encoding SSADH. SSADH is deficient in affected individuals impairing the formation of succinic acid from succinic semialdehyde and leading to the increased production of 4-HBA.

UniProtKB/Swiss-Prot : 72 Succinic semialdehyde dehydrogenase deficiency: A rare inborn error of 4-aminobutyric acid (GABA) metabolism, which leads to accumulation of 4-hydroxybutyric acid in physiologic fluids of patients. The disease is clinically characterized by developmental delay, hypotonia, mental retardation, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances.

Wikipedia : 73 Succinic semialdehyde dehydrogenase deficiency (SSADHD), is a rare autosomal recessive disorder of the... more...

GeneReviews: NBK1195

Related Diseases for Succinic Semialdehyde Dehydrogenase Deficiency

Diseases related to Succinic Semialdehyde Dehydrogenase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 amino acid metabolic disorder 30.7 SERPINA3 PRODH ALDH5A1 ALDH4A1
2 epilepsy 30.6 SLC6A1 PRODH GAD2 GAD1 ALDH5A1 ABAT
3 gaba-transaminase deficiency 30.3 ALDH5A1 ABAT
4 movement disease 30.2 SERPINA3 PRODH GAD2 GAD1
5 childhood absence epilepsy 30.1 SLC6A13 SLC6A1 ALDH5A1 ABAT
6 gamma-amino butyric acid metabolism disorder 28.6 SLC6A13 SLC6A12 SLC6A1 SERPINA3 PRODH GAD2
7 hypotonia 10.9
8 autosomal recessive disease 10.8
9 ataxia and polyneuropathy, adult-onset 10.7
10 alacrima, achalasia, and mental retardation syndrome 10.6
11 status epilepticus 10.6
12 autism spectrum disorder 10.4
13 sleep disorder 10.4
14 seizure disorder 10.4
15 neurometabolic disease 10.4
16 hyperprolinemia, type i 10.4 PRODH ALDH4A1
17 autism 10.4
18 alcohol-related neurodevelopmental disorder 10.4
19 dystonia 10.4
20 narcolepsy 10.4
21 encephalopathy 10.4
22 myoclonus 10.4
23 voyeurism 10.3 SERPINA3 PRODH
24 hyperprolinemia, type ii 10.3 PRODH ALDH4A1 ALDH18A1
25 neu-laxova syndrome 2 10.3 GAD1 ALDH4A1 ALDH18A1
26 stiff-person syndrome 10.2 GAD2 GAD1 ABAT
27 autoimmune polyendocrine syndrome, type ii 10.2 GAD2 GAD1
28 mast syndrome 10.2 ALDH6A1 ALDH4A1 ALDH16A1
29 spastic cerebral palsy 10.2 GAD2 GAD1 ALDH3A2
30 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.2 GAD2 GAD1
31 aniridia 1 10.2
32 attention deficit-hyperactivity disorder 10.2
33 obsessive-compulsive disorder 10.2
34 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 10.2
35 stroke, ischemic 10.2
36 abdominal obesity-metabolic syndrome 1 10.2
37 wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome 10.2
38 striatal degeneration, autosomal dominant 2 10.2
39 hydrocephalus 10.2
40 neuroleptic malignant syndrome 10.2
41 hypothyroidism 10.2
42 cerebral palsy 10.2
43 bronchiolitis 10.2
44 agnosia 10.2
45 myopathy 10.2
46 inherited metabolic disorder 10.2
47 learning disability 10.2
48 hypoglycemia 10.2
49 47,xyy 10.2
50 cerebral atrophy 10.2

Graphical network of the top 20 diseases related to Succinic Semialdehyde Dehydrogenase Deficiency:



Diseases related to Succinic Semialdehyde Dehydrogenase Deficiency

Symptoms & Phenotypes for Succinic Semialdehyde Dehydrogenase Deficiency

Human phenotypes related to Succinic Semialdehyde Dehydrogenase Deficiency:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 very rare (1%) Very frequent (99-80%) HP:0001249
2 ataxia 58 31 very rare (1%) Very frequent (99-80%) HP:0001251
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 abnormality of metabolism/homeostasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001939
5 hypotonia 31 hallmark (90%) HP:0001252
6 behavioral abnormality 58 31 very rare (1%) Frequent (79-30%) HP:0000708
7 status epilepticus 58 31 frequent (33%) Frequent (79-30%) HP:0002133
8 bilateral tonic-clonic seizure 31 frequent (33%) HP:0002069
9 generalized myoclonic seizure 31 frequent (33%) HP:0002123
10 delayed speech and language development 31 very rare (1%) HP:0000750
11 motor delay 31 very rare (1%) HP:0001270
12 hyporeflexia 31 very rare (1%) HP:0001265
13 cerebellar atrophy 31 very rare (1%) HP:0001272
14 generalized hypotonia 31 very rare (1%) HP:0001290
15 delayed cns myelination 31 very rare (1%) HP:0002188
16 seizure 31 very rare (1%) HP:0001250
17 eeg abnormality 31 HP:0002353
18 abnormality of eye movement 31 HP:0000496
19 muscular hypotonia 58 Very frequent (99-80%)
20 self-injurious behavior 31 HP:0100716
21 hallucinations 31 HP:0000738
22 autism 31 HP:0000717
23 anxiety 31 HP:0000739
24 generalized myoclonic seizures 58 Frequent (79-30%)
25 psychosis 31 HP:0000709
26 generalized tonic-clonic seizures 58 Frequent (79-30%)
27 psychomotor retardation 31 HP:0025356
28 aggressive behavior 31 HP:0000718
29 hyperactivity 31 HP:0000752
30 hyperkinetic movements 31 HP:0002487
31 generalized non-motor (absence) seizure 31 HP:0002121
32 elevated urinary 4-hydroxybutyric acid 31 HP:0032528
33 elevated circulating gamma-aminobutyric acid concentration 31 HP:0032529
34 decreased succinic semialdehyde dehydrogenase level 31 HP:0032530
35 elevated csf gamma-aminobutyric acid concentration 31 HP:0032531
36 elevated csf 4-hydroxybutyric acid concentration 31 HP:0032532
37 increased level of gamma-aminobutyric acid in urine 31 HP:0500253

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
ataxia
hyporeflexia
generalized tonic-clonic seizures
status epilepticus
more
Head And Neck Eyes:
abnormal eye movements

Neurologic Behavioral Psychiatric Manifestations:
hallucinations
anxiety
hyperactivity
aggressiveness
obsessive compulsive disorder
more
Laboratory Abnormalities:
increased urinary excretion of 4-hydroxybutyric acid (ghb)
increased csf and plasma ghb
increased urinary excretion of gamma-aminobutyric acid (gaba)
increased csf and plasma gaba
decreased activity of succinic semialdehyde dehydrogenase (ssadh, aldh5a1), less than 5% of control values

Clinical features from OMIM®:

271980 (Updated 20-May-2021)

UMLS symptoms related to Succinic Semialdehyde Dehydrogenase Deficiency:


seizures; ataxia; myoclonic seizures; absence seizures

GenomeRNAi Phenotypes related to Succinic Semialdehyde Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.5 ALDH16A1 ALDH1B1 PRODH SERPINA3
2 Decreased viability GR00381-A-1 9.5 ABAT PRODH
3 Decreased viability GR00386-A-1 9.5 ABAT ALDH1B1 ALDH2 ALDH9A1 SLC6A12 SLC6A13
4 Decreased viability GR00402-S-2 9.5 AKR7A2 ALDH18A1 ALDH9A1

Drugs & Therapeutics for Succinic Semialdehyde Dehydrogenase Deficiency

Drugs for Succinic Semialdehyde Dehydrogenase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Neurotransmitter Agents Phase 2
2 (3-aminopropyl)(n-butyl)phosphinic acid Phase 2
3 Protective Agents Phase 2
4 Neuroprotective Agents Phase 2
5
Taurine Approved, Nutraceutical 107-35-7 1123

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase 2 Clinical Trial of SGS-742 Therapy in Succinic Semialdehyde Dehydrogenase Deficiency Completed NCT02019667 Phase 2 SGS-742;Placebo
2 PET Imaging of GABA Receptors in Succinic Semialdehyde Dehydrogenase Deficiency Completed NCT00246870
3 Succinic Semialdehyde Dehydrogenase Deficiency: Physiological Markers of Taurine Therapy Completed NCT01608178
4 Cortical Excitability in Succinic Semialdehyde Dehydrogenase Deficiency Completed NCT00132366
5 Natural History Study of Patients With Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency Recruiting NCT03758521

Search NIH Clinical Center for Succinic Semialdehyde Dehydrogenase Deficiency

Cochrane evidence based reviews: succinic semialdehyde dehydrogenase deficiency

Genetic Tests for Succinic Semialdehyde Dehydrogenase Deficiency

Genetic tests related to Succinic Semialdehyde Dehydrogenase Deficiency:

# Genetic test Affiliating Genes
1 Succinate-Semialdehyde Dehydrogenase Deficiency 29 ALDH5A1

Anatomical Context for Succinic Semialdehyde Dehydrogenase Deficiency

MalaCards organs/tissues related to Succinic Semialdehyde Dehydrogenase Deficiency:

40
Eye, Cortex, Globus Pallidus, Subthalamic Nucleus, Brain

Publications for Succinic Semialdehyde Dehydrogenase Deficiency

Articles related to Succinic Semialdehyde Dehydrogenase Deficiency:

(show top 50) (show all 197)
# Title Authors PMID Year
1
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. 57 25 6
14635103 2003
2
Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). 61 6 57
9683595 1998
3
Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency. 6 57
32887777 2020
4
Efficacy of vigabatrin intervention in a mild phenotypic expression of succinic semialdehyde dehydrogenase deficiency. 25 6 61
23430864 2012
5
Neuropathology in succinic semialdehyde dehydrogenase deficiency. 6 25 61
20304328 2010
6
Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. 25 57 61
12743223 2003
7
Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses. 61 6 25
11243727 2001
8
Differing clinical presentation of succinic semialdehyde dehydrogenase deficiency in adolescent siblings from Lifu Island, New Caledonia. 61 25 57
9266358 1997
9
The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients. 25 57 61
9093300 1997
10
Mutation analysis and prenatal diagnosis in a Chinese family with succinic semialdehyde dehydrogenase and a systematic review of the literature of reported ALDH5A1 mutations. 25 6
25431891 2016
11
Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency. 57 61
32402538 2020
12
Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency. 6 61
31117962 2019
13
Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability. 6 61
29895405 2018
14
Psychomotor delay, hypotonia, and behavioural disorders: A case of succinic semialdehyde dehydrogenase deficiency. 6 61
26964512 2018
15
A case of succinic semialdehyde dehydrogenase deficiency with status epilepticus and rapid regression. 61 6
27117035 2016
16
Eye Findings on Vigabatrin and Taurine Treatment in Two Patients with Succinic Semialdehyde Dehydrogenase Deficiency. 6 61
27104484 2016
17
Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses. 61 6
26220405 2015
18
Head bobbing due to succinic semialdehyde dehydrogenase deficiency. 57 61
20548048 2010
19
Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency. 61 57
17438226 2007
20
Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation. 61 57
16542398 2006
21
4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism. 61 57
9553943 1998
22
Prenatal detection of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria) 57 61
8464836 1993
23
Succinic semialdehyde dehydrogenase deficiency--a further case. 57 61
2433500 1985
24
Succinic semialdehyde dehydrogenase deficiency. 57 61
6536727 1984
25
Defective succinic semialdehyde dehydrogenase activity in 4-hydroxybutyric aciduria. 61 57
6489377 1984
26
Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism. 61 57
6627675 1983
27
A new patient with 4-hydroxybutyric aciduria, a possible defect of 4-aminobutyrate metabolism. 57 61
6133657 1983
28
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability. 6
32238909 2020
29
SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site. 6
28664505 2017
30
A case of acute onset succinic semialdehyde dehydrogenase deficiency: neuroimaging findings and literature review. 25 61
26499347 2016
31
Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood. 25 61
26268900 2015
32
Taurine trial in succinic semialdehyde dehydrogenase deficiency and elevated CNS GABA. 25 61
24523482 2014
33
Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency. 61 25
27896081 2014
34
Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. 61 25
22739941 2013
35
Therapeutic efficacy of magnesium valproate in succinic semialdehyde dehydrogenase deficiency. 25 61
23430529 2013
36
GABAB-ergic motor cortex dysfunction in SSADH deficiency. 57
22722631 2012
37
A novel ALDH5A1 mutation in a patient with succinic semialdehyde dehydrogenase deficiency. 61 25
22437753 2012
38
4-Hydroxybutyric aciduria associated with catheter usage: a diagnostic pitfall in the identification of SSADH deficiency. 25 61
20965758 2011
39
Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency. 25 61
20445195 2010
40
[Succinic semialdehyde dehydrogenase deficiency: decrease in 4-OH-butyric acid levels with low doses of vigabatrin]. 25 61
20018576 2010
41
Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men. 25 61
19172412 2009
42
Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients. 61 25
18622364 2008
43
Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria). 25 61
15287248 2004
44
The molecular basis of succinic semialdehyde dehydrogenase deficiency in one family. 61 25
15059623 2004
45
Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria). 25 61
14512218 2003
46
Effect of valproic acid on the urinary metabolic profile of a patient with succinic semialdehyde dehydrogenase deficiency. 25 61
12829002 2003
47
Vigabatrin and newer interventions in succinic semialdehyde dehydrogenase deficiency. 61 25
12891656 2003
48
Clinical, fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography (FDG PET), MRI of the brain and biochemical observations in a patient with 4-hydroxybutyric aciduria; a progressive neurometabolic disease. 61 25
10722966 2000
49
MRI findings in succinic semialdehyde dehydrogenase deficiency. 61 25
10774997 2000
50
Seizures in a boy with succinic semialdehyde dehydrogenase deficiency treated with vigabatrin (gamma-vinyl-GABA). 61 25
8803774 1996

Variations for Succinic Semialdehyde Dehydrogenase Deficiency

ClinVar genetic disease variations for Succinic Semialdehyde Dehydrogenase Deficiency:

6 (show top 50) (show all 330)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALDH5A1 NM_001080.3(ALDH5A1):c.1343+1G>T SNV Pathogenic 1355 rs1561879380 GRCh37: 6:24528395-24528395
GRCh38: 6:24528167-24528167
2 ALDH5A1 NM_001080.3(ALDH5A1):c.727-3298G>A SNV Pathogenic 1356 rs1561872640 GRCh37: 6:24512097-24512097
GRCh38: 6:24511869-24511869
3 ALDH5A1 NM_001080.3(ALDH5A1):c.1234C>T (p.Arg412Ter) SNV Pathogenic 1358 rs118203983 GRCh37: 6:24528285-24528285
GRCh38: 6:24528057-24528057
4 ALDH5A1 NM_001080.3(ALDH5A1):c.1343+1G>A SNV Pathogenic 587401 rs1561879380 GRCh37: 6:24528395-24528395
GRCh38: 6:24528167-24528167
5 ALDH5A1 NM_001080.3(ALDH5A1):c.1402+1G>A SNV Pathogenic 838828 GRCh37: 6:24532406-24532406
GRCh38: 6:24532178-24532178
6 ALDH5A1 NM_001080.3(ALDH5A1):c.621del (p.Ser208fs) Deletion Pathogenic 664746 rs1306678453 GRCh37: 6:24505105-24505105
GRCh38: 6:24504877-24504877
7 ALDH5A1 NM_001080.3(ALDH5A1):c.1015-2A>C SNV Pathogenic 959632 GRCh37: 6:24522993-24522993
GRCh38: 6:24522765-24522765
8 ALDH5A1 NM_001080.3(ALDH5A1):c.335G>A (p.Trp112Ter) SNV Pathogenic 938537 GRCh37: 6:24495559-24495559
GRCh38: 6:24495331-24495331
9 ALDH5A1 NM_001080.3(ALDH5A1):c.397C>T (p.Gln133Ter) SNV Pathogenic 940067 GRCh37: 6:24502793-24502793
GRCh38: 6:24502565-24502565
10 ALDH5A1 , GPLD1 NM_001080.3(ALDH5A1):c.104_127del (p.Ser35_Gln43delinsTer) Deletion Pathogenic 582120 rs1561865665 GRCh37: 6:24495328-24495351
GRCh38: 6:24495100-24495123
11 ALDH5A1 NM_001080.3(ALDH5A1):c.566_567insTTGCCCT (p.Val190fs) Insertion Pathogenic 663114 rs755029414 GRCh37: 6:24503613-24503614
GRCh38: 6:24503385-24503386
12 ALDH5A1 NM_001080.3(ALDH5A1):c.1506_1521dup (p.Lys508fs) Duplication Pathogenic 835064 GRCh37: 6:24533829-24533830
GRCh38: 6:24533601-24533602
13 ALDH5A1 NM_001080.3(ALDH5A1):c.307_308insA (p.Arg103fs) Insertion Pathogenic 948582 GRCh37: 6:24495531-24495532
GRCh38: 6:24495303-24495304
14 ALDH5A1 , GPLD1 NM_001080.3(ALDH5A1):c.123_127dup (p.Gln43fs) Microsatellite Pathogenic 964314 GRCh37: 6:24495337-24495338
GRCh38: 6:24495109-24495110
15 ALDH5A1 NM_001080.3(ALDH5A1):c.1014+723_1173+796del Deletion Pathogenic 1360 GRCh37: 6:24521492-24523946
GRCh38: 6:24521264-24523718
16 ALDH5A1 NM_001080.3(ALDH5A1):c.819del (p.Asp274fs) Deletion Pathogenic 521941 rs778127154 GRCh37: 6:24515487-24515487
GRCh38: 6:24515259-24515259
17 ALDH5A1 NM_001080.3(ALDH5A1):c.803G>A (p.Gly268Glu) SNV Pathogenic 235512 rs375628463 GRCh37: 6:24515471-24515471
GRCh38: 6:24515243-24515243
18 ALDH5A1 NM_001080.3(ALDH5A1):c.610-2A>G SNV Pathogenic 459990 rs1301821497 GRCh37: 6:24505095-24505095
GRCh38: 6:24504867-24504867
19 ALDH5A1 NC_000006.12:g.(?_24527977)_(24528186_?)del Deletion Pathogenic 583913 GRCh37: 6:24528205-24528414
GRCh38: 6:24527977-24528186
20 ALDH5A1 NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter) SNV Pathogenic 1357 rs118203982 GRCh37: 6:24505099-24505099
GRCh38: 6:24504871-24504871
21 ALDH5A1 NM_001080.3(ALDH5A1):c.321G>A (p.Glu107=) SNV Pathogenic 992960 GRCh37: 6:24495545-24495545
GRCh38: 6:24495317-24495317
22 ALDH5A1 NM_001080.3(ALDH5A1):c.278G>T (p.Cys93Phe) SNV Pathogenic 449408 rs765561257 GRCh37: 6:24495502-24495502
GRCh38: 6:24495274-24495274
23 ALDH5A1 NM_001080.3(ALDH5A1):c.1597G>A (p.Gly533Arg) SNV Pathogenic 426524 rs72552284 GRCh37: 6:24533929-24533929
GRCh38: 6:24533701-24533701
24 ALDH5A1 NM_001080.3(ALDH5A1):c.526G>A (p.Gly176Arg) SNV Pathogenic 379247 rs72552281 GRCh37: 6:24503578-24503578
GRCh38: 6:24503350-24503350
25 ALDH5A1 NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp) SNV Pathogenic 1359 rs118203984 GRCh37: 6:24528277-24528277
GRCh38: 6:24528049-24528049
26 ALDH5A1 NM_001080.3(ALDH5A1):c.1343+1_1343+3delinsTT Indel Pathogenic 225890 rs875989801 GRCh37: 6:24528395-24528397
GRCh38: 6:24528167-24528169
27 ALDH5A1 NM_001080.3(ALDH5A1):c.1402+1G>T SNV Likely pathogenic 984711 GRCh37: 6:24532406-24532406
GRCh38: 6:24532178-24532178
28 ALDH5A1 NM_001080.3(ALDH5A1):c.1045C>T (p.Gln349Ter) SNV Likely pathogenic 804455 rs1581819950 GRCh37: 6:24523025-24523025
GRCh38: 6:24522797-24522797
29 ALDH5A1 NM_001080.3(ALDH5A1):c.691G>A (p.Glu231Lys) SNV Likely pathogenic 934137 GRCh37: 6:24505178-24505178
GRCh38: 6:24504950-24504950
30 ALDH5A1 NM_001080.3(ALDH5A1):c.1107C>T (p.Arg369=) SNV Conflicting interpretations of pathogenicity 284207 rs148188703 GRCh37: 6:24523087-24523087
GRCh38: 6:24522859-24522859
31 ALDH5A1 NM_001080.3(ALDH5A1):c.525C>T (p.Tyr175=) SNV Conflicting interpretations of pathogenicity 725408 rs372455508 GRCh37: 6:24503577-24503577
GRCh38: 6:24503349-24503349
32 ALDH5A1 NM_001080.3(ALDH5A1):c.831G>A (p.Val277=) SNV Conflicting interpretations of pathogenicity 729901 rs138912422 GRCh37: 6:24515499-24515499
GRCh38: 6:24515271-24515271
33 ALDH5A1 NM_001080.3(ALDH5A1):c.651C>T (p.Ala217=) SNV Conflicting interpretations of pathogenicity 772334 rs4646837 GRCh37: 6:24505138-24505138
GRCh38: 6:24504910-24504910
34 ALDH5A1 NM_001080.3(ALDH5A1):c.293C>G (p.Ala98Gly) SNV Conflicting interpretations of pathogenicity 356128 rs535825137 GRCh37: 6:24495517-24495517
GRCh38: 6:24495289-24495289
35 ALDH5A1 NM_001080.3(ALDH5A1):c.515G>A (p.Arg172His) SNV Conflicting interpretations of pathogenicity 356130 rs773814880 GRCh37: 6:24503567-24503567
GRCh38: 6:24503339-24503339
36 ALDH5A1 NM_001080.3(ALDH5A1):c.862A>G (p.Thr288Ala) SNV Conflicting interpretations of pathogenicity 664116 rs373320785 GRCh37: 6:24515530-24515530
GRCh38: 6:24515302-24515302
37 ALDH5A1 NM_001080.3(ALDH5A1):c.1344-6T>C SNV Conflicting interpretations of pathogenicity 356140 rs368212282 GRCh37: 6:24532341-24532341
GRCh38: 6:24532113-24532113
38 ALDH5A1 NM_001080.3(ALDH5A1):c.589G>A (p.Val197Met) SNV Uncertain significance 356132 rs768219929 GRCh37: 6:24503641-24503641
GRCh38: 6:24503413-24503413
39 ALDH5A1 NM_001080.3(ALDH5A1):c.1531G>A (p.Gly511Ser) SNV Uncertain significance 459981 rs377658514 GRCh37: 6:24533863-24533863
GRCh38: 6:24533635-24533635
40 ALDH5A1 NM_001080.3(ALDH5A1):c.532A>G (p.Ile178Val) SNV Uncertain significance 529475 rs751365223 GRCh37: 6:24503584-24503584
GRCh38: 6:24503356-24503356
41 ALDH5A1 NM_001080.3(ALDH5A1):c.1439G>A (p.Arg480Lys) SNV Uncertain significance 529477 rs1055012664 GRCh37: 6:24533771-24533771
GRCh38: 6:24533543-24533543
42 ALDH5A1 NM_001080.3(ALDH5A1):c.542C>T (p.Thr181Ile) SNV Uncertain significance 529481 rs147439442 GRCh37: 6:24503594-24503594
GRCh38: 6:24503366-24503366
43 ALDH5A1 NM_001080.3(ALDH5A1):c.1294A>G (p.Met432Val) SNV Uncertain significance 573333 rs1561879315 GRCh37: 6:24528345-24528345
GRCh38: 6:24528117-24528117
44 ALDH5A1 NM_001080.3(ALDH5A1):c.605C>T (p.Thr202Ile) SNV Uncertain significance 284327 rs148733464 GRCh37: 6:24503657-24503657
GRCh38: 6:24503429-24503429
45 ALDH5A1 NM_001080.3(ALDH5A1):c.1375G>A (p.Ala459Thr) SNV Uncertain significance 660754 rs749276622 GRCh37: 6:24532378-24532378
GRCh38: 6:24532150-24532150
46 ALDH5A1 NM_001080.3(ALDH5A1):c.377A>G (p.Lys126Arg) SNV Uncertain significance 838805 GRCh37: 6:24502773-24502773
GRCh38: 6:24502545-24502545
47 ALDH5A1 NM_001080.3(ALDH5A1):c.1235G>A (p.Arg412Gln) SNV Uncertain significance 841678 GRCh37: 6:24528286-24528286
GRCh38: 6:24528058-24528058
48 ALDH5A1 NM_001080.3(ALDH5A1):c.1081G>A (p.Ala361Thr) SNV Uncertain significance 845341 GRCh37: 6:24523061-24523061
GRCh38: 6:24522833-24522833
49 ALDH5A1 NM_001080.3(ALDH5A1):c.305T>G (p.Val102Gly) SNV Uncertain significance 850893 GRCh37: 6:24495529-24495529
GRCh38: 6:24495301-24495301
50 ALDH5A1 NM_001080.3(ALDH5A1):c.1186G>A (p.Val396Met) SNV Uncertain significance 857458 GRCh37: 6:24528237-24528237
GRCh38: 6:24528009-24528009

UniProtKB/Swiss-Prot genetic disease variations for Succinic Semialdehyde Dehydrogenase Deficiency:

72 (show all 12)
# Symbol AA change Variation ID SNP ID
1 ALDH5A1 p.Cys93Phe VAR_026199 rs765561257
2 ALDH5A1 p.Gly176Arg VAR_026200 rs72552281
3 ALDH5A1 p.Cys223Tyr VAR_026201 rs72552282
4 ALDH5A1 p.Thr233Met VAR_026202 rs132652645
5 ALDH5A1 p.Asn255Ser VAR_026203 rs145087265
6 ALDH5A1 p.Gly268Glu VAR_026204 rs375628463
7 ALDH5A1 p.Asn335Lys VAR_026205 rs72552283
8 ALDH5A1 p.Pro382Leu VAR_026206
9 ALDH5A1 p.Pro382Gln VAR_026207
10 ALDH5A1 p.Gly409Asp VAR_026208 rs118203984
11 ALDH5A1 p.Val487Glu VAR_026209
12 ALDH5A1 p.Gly533Arg VAR_026210 rs72552284

Expression for Succinic Semialdehyde Dehydrogenase Deficiency

Search GEO for disease gene expression data for Succinic Semialdehyde Dehydrogenase Deficiency.

Pathways for Succinic Semialdehyde Dehydrogenase Deficiency

Pathways related to Succinic Semialdehyde Dehydrogenase Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Alanine, aspartate and glutamate metabolism hsa00250
2 Butanoate metabolism hsa00650

Pathways related to Succinic Semialdehyde Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.96 SLC6A12 PRODH GPLD1 GAD2 GAD1 ALDH9A1
2
Show member pathways
12.93 SLC6A13 SLC6A12 SLC6A1 GAD2 GAD1 ALDH5A1
3
Show member pathways
12.49 SLC6A13 SLC6A12 SLC6A1 GAD2 GAD1 ABAT
4
Show member pathways
12.35 ALDH9A1 ALDH3A2 ALDH2 ALDH1B1
5
Show member pathways
11.94 SLC6A13 SLC6A12 SLC6A1 GAD2 GAD1 ALDH5A1
6
Show member pathways
11.91 SLC6A13 SLC6A12 SLC6A1
7
Show member pathways
11.87 ALDH9A1 ALDH6A1 ALDH3A2 ALDH2 ALDH1B1 ABAT
8
Show member pathways
11.84 ALDH9A1 ALDH3A2 ALDH2 ALDH1B1
9
Show member pathways
11.7 ALDH9A1 ALDH3A2 ALDH2 ALDH1B1
10 11.64 ALDH9A1 ALDH3A2 ALDH2 ALDH1B1
11 11.6 ALDH9A1 ALDH3A2 ALDH2 ALDH1B1
12
Show member pathways
11.34 GAD2 GAD1 ALDH5A1 ABAT
13
Show member pathways
11.26 PRODH ALDH9A1 ALDH4A1 ALDH3A2 ALDH2 ALDH1B1
14
Show member pathways
11.22 ALDH9A1 ALDH3A2 ALDH2 ALDH1B1
15 11.22 GAD2 GAD1 ALDH5A1 ALDH4A1 ABAT
16 11.07 ALDH3A2 ALDH2 ALDH1B1
17
Show member pathways
10.99 SLC6A13 SLC6A12 SLC6A1
18
Show member pathways
10.97 GAD2 GAD1
19
Show member pathways
10.92 GAD2 GAD1 ALDH9A1 ABAT
20 10.89 ALDH5A1 ABAT
21 10.84 GAD2 GAD1
22
Show member pathways
10.81 GAD2 GAD1 ABAT
23
Show member pathways
10.74 GAD2 GAD1 ALDH9A1 ALDH6A1 ALDH3A2 ALDH2
24 10.63 GAD2 GAD1
25
Show member pathways
10.58 ALDH18A1 ABAT

GO Terms for Succinic Semialdehyde Dehydrogenase Deficiency

Cellular components related to Succinic Semialdehyde Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.56 PRODH ALDH6A1 ALDH5A1 ALDH4A1 ALDH2 ALDH1B1
2 inhibitory synapse GO:0060077 9.26 GAD2 GAD1
3 mitochondrial matrix GO:0005759 9.17 PRODH ALDH6A1 ALDH5A1 ALDH4A1 ALDH2 ALDH1B1
4 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane GO:0061202 9.16 GAD2 GAD1

Biological processes related to Succinic Semialdehyde Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 sodium ion transmembrane transport GO:0035725 9.77 SLC6A13 SLC6A12 SLC6A1
2 electron transport chain GO:0022900 9.73 ALDH4A1 ALDH2 AKR7A2
3 neurotransmitter transport GO:0006836 9.71 SLC6A13 SLC6A12 SLC6A1
4 carboxylic acid metabolic process GO:0019752 9.61 GAD2 GAD1
5 monocarboxylic acid transport GO:0015718 9.6 SLC6A13 SLC6A12
6 glutamate metabolic process GO:0006536 9.58 ALDH5A1 ALDH18A1
7 ethanol catabolic process GO:0006068 9.58 ALDH2 ALDH1B1
8 ethanol oxidation GO:0006069 9.57 ALDH2 ALDH1B1
9 neurotransmitter catabolic process GO:0042135 9.55 ALDH5A1 ABAT
10 proline catabolic process GO:0006562 9.52 PRODH ALDH4A1
11 gamma-aminobutyric acid import GO:0051939 9.51 SLC6A13 SLC6A1
12 4-hydroxyproline catabolic process GO:0019470 9.49 PRODH ALDH4A1
13 gamma-aminobutyric acid transport GO:0015812 9.48 SLC6A12 SLC6A1
14 proline catabolic process to glutamate GO:0010133 9.46 PRODH ALDH4A1
15 gamma-aminobutyric acid biosynthetic process GO:0009449 9.43 GAD1 ABAT
16 gamma-aminobutyric acid metabolic process GO:0009448 9.4 ALDH5A1 ABAT
17 proline metabolic process GO:0006560 9.37 PRODH ALDH4A1
18 oxidation-reduction process GO:0055114 9.36 PRODH ALDH9A1 ALDH6A1 ALDH5A1 ALDH4A1 ALDH3A2
19 neurotransmitter biosynthetic process GO:0042136 9.33 GAD2 GAD1 ALDH9A1
20 gamma-aminobutyric acid catabolic process GO:0009450 9.32 ALDH5A1 ABAT
21 glutamate decarboxylation to succinate GO:0006540 9.26 GAD2 GAD1
22 cellular aldehyde metabolic process GO:0006081 9.13 ALDH9A1 ALDH3A2 AKR7A2

Molecular functions related to Succinic Semialdehyde Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.7 SLC6A13 SLC6A12 SLC6A1
2 oxidoreductase activity GO:0016491 9.7 PRODH ALDH9A1 ALDH6A1 ALDH5A1 ALDH4A1 ALDH3A2
3 electron transfer activity GO:0009055 9.65 ALDH4A1 ALDH2 AKR7A2
4 pyridoxal phosphate binding GO:0030170 9.63 GAD2 GAD1 ABAT
5 glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity GO:0043878 9.56 ALDH9A1 ALDH3A2 ALDH2 ALDH1B1
6 aldehyde dehydrogenase (NAD) activity GO:0004029 9.55 ALDH9A1 ALDH4A1 ALDH3A2 ALDH2 ALDH1B1
7 neurotransmitter binding GO:0042165 9.54 SLC6A13 SLC6A12 SLC6A1
8 monocarboxylic acid transmembrane transporter activity GO:0008028 9.51 SLC6A13 SLC6A12
9 gamma-aminobutyric acid:sodium symporter activity GO:0005332 9.5 SLC6A13 SLC6A12 SLC6A1
10 glutamate binding GO:0016595 9.49 GAD2 GAD1
11 gamma-aminobutyric acid transmembrane transporter activity GO:0015185 9.43 SLC6A13 SLC6A1
12 glutamate decarboxylase activity GO:0004351 9.4 GAD2 GAD1
13 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor GO:0016620 9.28 ALDH9A1 ALDH6A1 ALDH5A1 ALDH4A1 ALDH3A2 ALDH2

Sources for Succinic Semialdehyde Dehydrogenase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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