SSADHD
MCID: SCC001
MIFTS: 54

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 76 24 53 25 59 75 37 13 44 15 73
4-Hydroxybutyric Aciduria 57 12 24 53 25 59 75
Gamma-Hydroxybutyric Aciduria 57 12 24 25 59 75
Ssadh Deficiency 57 24 53 25 59 75
Gaba Metabolic Defect 57 53 75
Succinate-Semialdehyde Dehydrogenase Deficiency 29 6
Ssadhd 57 75
Ssadh 12 76
Deficiency, Succinate-Semialdehyde Dehydrogenase 40
Succinate Semialdehyde Dehydrogenase Deficiency 75
Succinic Semialdehyde Dehydrogenase 13
Gamma-Hydroxybutyric Acidemia 25
Gamma-Hydroxybutyricaciduria 53
4-Hydroxybutyricaciduria 25

Characteristics:

Orphanet epidemiological data:

59
succinic semialdehyde dehydrogenase deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy,Neonatal; Age of death: adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
onset in infancy or early childhood


HPO:

32
succinic semialdehyde dehydrogenase deficiency:
Onset and clinical course phenotypic variability infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Succinic Semialdehyde Dehydrogenase Deficiency

Genetics Home Reference : 25 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 epilepsy and hypotonia, and has symptoms including seizures, ataxia and absence 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 (3-aminopropyl)(n-butyl)phosphinic acid and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, brain 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.

NIH Rare Diseases : 53 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)

UniProtKB/Swiss-Prot : 75 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 : 76 Succinic semialdehyde dehydrogenase deficiency (SSADHD), also known as 4-hydroxybutyric aciduria or... more...

GeneReviews: NBK1195

Related Diseases for Succinic Semialdehyde Dehydrogenase Deficiency

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
ataxia
generalized tonic-clonic seizures
absence seizures
status epilepticus
more
Head And Neck Eyes:
abnormal eye movements

Neurologic Behavioral Psychiatric Manifestations:
hallucinations
anxiety
hyperactivity
aggressiveness
autism, mild
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

Human phenotypes related to Succinic Semialdehyde Dehydrogenase Deficiency:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
3 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
4 behavioral abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000708
5 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
6 abnormality of metabolism/homeostasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001939
7 generalized myoclonic seizures 59 32 frequent (33%) Frequent (79-30%) HP:0002123
8 generalized tonic-clonic seizures 59 32 frequent (33%) Frequent (79-30%) HP:0002069
9 status epilepticus 59 32 frequent (33%) Frequent (79-30%) HP:0002133
10 abnormality of eye movement 32 HP:0000496
11 eeg abnormality 32 HP:0002353
12 self-injurious behavior 32 HP:0100716
13 hallucinations 32 HP:0000738
14 delayed speech and language development 32 HP:0000750
15 autism 32 HP:0000717
16 anxiety 32 HP:0000739
17 motor delay 32 HP:0001270
18 psychosis 32 HP:0000709
19 absence seizures 32 HP:0002121
20 aggressive behavior 32 HP:0000718
21 hyporeflexia 32 HP:0001265
22 generalized hypotonia 32 HP:0001290
23 hyperactivity 32 HP:0000752
24 hyperkinesis 32 HP:0002487

UMLS symptoms related to Succinic Semialdehyde Dehydrogenase Deficiency:


seizures, ataxia, absence seizures, myoclonic seizures

Drugs & Therapeutics for Succinic Semialdehyde Dehydrogenase Deficiency

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 (3-aminopropyl)(n-butyl)phosphinic acid Phase 2
2 Neurotransmitter Agents Phase 2
3 GABA Agents Phase 2
4 Neuroprotective Agents Phase 2
5 Protective Agents Phase 2
6
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 Active, not recruiting NCT02019667 Phase 2 SGS-742;Placebo
2 PET Imaging of GABA Receptors in Succinic Semialdehyde Dehydrogenase Deficiency Completed NCT00246870
3 Taurine Therapy for SSADH Deficiency Completed NCT01608178
4 Brain Excitability in Patients With Succinic Semialdehyde Dehydrogenase Deficiency Completed NCT00132366
5 Natural History Study of Patients With Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency Not yet 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:

41
Eye, Brain, Globus Pallidus

Publications for Succinic Semialdehyde Dehydrogenase Deficiency

Articles related to Succinic Semialdehyde Dehydrogenase Deficiency:

(show top 50) (show all 94)
# Title Authors Year
1
Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability. ( 29895405 )
2018
2
Succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism: an update on pharmacological and enzyme-replacement therapeutic strategies. ( 29460030 )
2018
3
[Identification of ALDH5A1 gene mutations in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency]. ( 28186584 )
2017
4
Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency. ( 28213850 )
2017
5
Targeted screening of succinic semialdehyde dehydrogenase deficiency (SSADHD) employing an enzymatic assay for I^-hydroxybutyric acid (GHB) in biofluids. ( 28649510 )
2017
6
In vitro modeling of experimental succinic semialdehyde dehydrogenase deficiency (SSADHD) using brain-derived neural stem cells. ( 29053743 )
2017
7
Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism. ( 27686230 )
2016
8
Eye Findings on Vigabatrin and Taurine Treatment in Two Patients with Succinic Semialdehyde Dehydrogenase Deficiency. ( 27104484 )
2016
9
Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency. ( 27268762 )
2016
10
Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism. ( 27311541 )
2016
11
A case of succinic semialdehyde dehydrogenase deficiency with status epilepticus and rapid regression. ( 27117035 )
2016
12
Psychomotor delay, hypotonia, and behavioural disorders: A case of succinic semialdehyde dehydrogenase deficiency. ( 26964512 )
2016
13
Succinic Semialdehyde Dehydrogenase Deficiency Presenting as Autism Spectrum Disorder. ( 26806207 )
2016
14
Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency. ( 27338723 )
2016
15
Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses. ( 26220405 )
2015
16
Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood. ( 26268900 )
2015
17
A case of acute onset succinic semialdehyde dehydrogenase deficiency: neuroimaging findings and literature review. ( 26499347 )
2015
18
A Novel Mutation of ALDH5A1 Gene Associated With Succinic Semialdehyde Dehydrogenase Deficiency. ( 25246302 )
2014
19
Taurine trial in succinic semialdehyde dehydrogenase deficiency and elevated CNS GABA. ( 24523482 )
2014
20
Succinic Semialdehyde Dehydrogenase Deficiency in a Chinese Boy: A Novel ALDH5A1 Mutation With Severe Phenotype. ( 25122112 )
2014
21
Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency. ( 27896081 )
2014
22
[Analysis of ALDH5A1 gene mutation in a Chinese Han family with succinic semialdehyde dehydrogenase deficiency]. ( 23926001 )
2013
23
Therapeutic efficacy of magnesium valproate in succinic semialdehyde dehydrogenase deficiency. ( 23430529 )
2013
24
[Succinic semialdehyde dehydrogenase deficiency: an inheritable neurometabolic disease]. ( 23516105 )
2013
25
A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family. ( 23825041 )
2013
26
Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. ( 22739941 )
2013
27
A novel ALDH5A1 mutation in a patient with succinic semialdehyde dehydrogenase deficiency. ( 22437753 )
2012
28
A boy with a severe phenotype of succinic semialdehyde dehydrogenase deficiency. ( 21612881 )
2012
29
Efficacy of vigabatrin intervention in a mild phenotypic expression of succinic semialdehyde dehydrogenase deficiency. ( 23430864 )
2012
30
Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. ( 21664777 )
2011
31
4-Hydroxybutyric aciduria associated with catheter usage: a diagnostic pitfall in the identification of SSADH deficiency. ( 20965758 )
2011
32
Sleep disorders in succinic semialdehyde dehydrogenase deficiency: a family report. ( 19896403 )
2010
33
Head bobbing due to succinic semialdehyde dehydrogenase deficiency. ( 20548048 )
2010
34
Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency. ( 20445195 )
2010
35
Neuropathology in succinic semialdehyde dehydrogenase deficiency. ( 20304328 )
2010
36
[Succinic semialdehyde dehydrogenase deficiency: decrease in 4-OH-butyric acid levels with low doses of vigabatrin]. ( 20018576 )
2010
37
Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men. ( 19172412 )
2009
38
Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency. ( 19667317 )
2009
39
'Succinic semialdehyde dehydrogenase deficiency: phenotype evolution in an adolescent patient at 20-year follow-up'. ( 18811705 )
2008
40
Circadian distribution of generalized tonic-clonic seizures associated with murine succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. ( 18514581 )
2008
41
Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients. ( 18622364 )
2008
42
Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice). ( 17303287 )
2007
43
Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency. ( 17438226 )
2007
44
Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation. ( 16542398 )
2006
45
Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function. ( 16647690 )
2006
46
Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity. ( 16545979 )
2006
47
Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria). ( 15287248 )
2004
48
Succinic semialdehyde dehydrogenase deficiency (SSADH) (4-hydroxybutyric aciduria, gamma-hydroxybutyric aciduria). ( 15341910 )
2004
49
The molecular basis of succinic semialdehyde dehydrogenase deficiency in one family. ( 15059623 )
2004
50
Proton MR spectroscopy in succinic semialdehyde dehydrogenase deficiency. ( 15037717 )
2004

Variations for Succinic Semialdehyde Dehydrogenase Deficiency

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

75 (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

ClinVar genetic disease variations for Succinic Semialdehyde Dehydrogenase Deficiency:

6 (show top 50) (show all 314)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALDH5A1 NM_170740.1(ALDH5A1): c.1382+1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 6, 24528395: 24528395
2 ALDH5A1 NM_170740.1(ALDH5A1): c.1382+1G> T single nucleotide variant Pathogenic GRCh38 Chromosome 6, 24528167: 24528167
3 ALDH5A1 NG_008161.1: g.21901G> A single nucleotide variant Pathogenic GRCh38 Chromosome 6, 24511869: 24511869
4 ALDH5A1 NG_008161.1: g.21901G> A single nucleotide variant Pathogenic GRCh37 Chromosome 6, 24512097: 24512097
5 ALDH5A1 NM_001080.3(ALDH5A1): c.612G> A (p.Trp204Ter) single nucleotide variant Pathogenic rs118203982 GRCh37 Chromosome 6, 24505099: 24505099
6 ALDH5A1 NM_001080.3(ALDH5A1): c.612G> A (p.Trp204Ter) single nucleotide variant Pathogenic rs118203982 GRCh38 Chromosome 6, 24504871: 24504871
7 ALDH5A1 NM_170740.1(ALDH5A1): c.1273C> T (p.Arg425Ter) single nucleotide variant Pathogenic rs118203983 GRCh37 Chromosome 6, 24528285: 24528285
8 ALDH5A1 NM_170740.1(ALDH5A1): c.1273C> T (p.Arg425Ter) single nucleotide variant Pathogenic rs118203983 GRCh38 Chromosome 6, 24528057: 24528057
9 ALDH5A1 NM_001080.3(ALDH5A1): c.1226G> A (p.Gly409Asp) single nucleotide variant Pathogenic rs118203984 GRCh37 Chromosome 6, 24528277: 24528277
10 ALDH5A1 NM_001080.3(ALDH5A1): c.1226G> A (p.Gly409Asp) single nucleotide variant Pathogenic rs118203984 GRCh38 Chromosome 6, 24528049: 24528049
11 ALDH5A1 NG_008161.1: g.31299_33753del2455 deletion Pathogenic GRCh37 Chromosome 6, 24521495: 24523949
12 ALDH5A1 NG_008161.1: g.31299_33753del2455 deletion Pathogenic GRCh38 Chromosome 6, 24521267: 24523721
13 ALDH5A1 NM_001080.3(ALDH5A1): c.538C> T (p.His180Tyr) single nucleotide variant Benign rs2760118 GRCh37 Chromosome 6, 24503590: 24503590
14 ALDH5A1 NM_001080.3(ALDH5A1): c.538C> T (p.His180Tyr) single nucleotide variant Benign rs2760118 GRCh38 Chromosome 6, 24503362: 24503362
15 ALDH5A1 NM_001080.3(ALDH5A1): c.545C> T (p.Pro182Leu) single nucleotide variant Benign/Likely benign rs3765310 GRCh37 Chromosome 6, 24503597: 24503597
16 ALDH5A1 NM_001080.3(ALDH5A1): c.545C> T (p.Pro182Leu) single nucleotide variant Benign/Likely benign rs3765310 GRCh38 Chromosome 6, 24503369: 24503369
17 ALDH5A1 NM_170740.1(ALDH5A1): c.709G> T (p.Ala237Ser) single nucleotide variant Benign rs62621664 GRCh38 Chromosome 6, 24504968: 24504968
18 ALDH5A1 NM_170740.1(ALDH5A1): c.709G> T (p.Ala237Ser) single nucleotide variant Benign rs62621664 GRCh37 Chromosome 6, 24505196: 24505196
19 ALDH5A1 NM_170740.1(ALDH5A1): c.1382+1_1382+3delinsTT indel Pathogenic rs875989801 GRCh37 Chromosome 6, 24528395: 24528397
20 ALDH5A1 NM_170740.1(ALDH5A1): c.1382+1_1382+3delinsTT indel Pathogenic rs875989801 GRCh38 Chromosome 6, 24528167: 24528169
21 ALDH5A1 NM_001080.3(ALDH5A1): c.803G> A (p.Gly268Glu) single nucleotide variant Pathogenic/Likely pathogenic rs375628463 GRCh37 Chromosome 6, 24515471: 24515471
22 ALDH5A1 NM_001080.3(ALDH5A1): c.803G> A (p.Gly268Glu) single nucleotide variant Pathogenic/Likely pathogenic rs375628463 GRCh38 Chromosome 6, 24515243: 24515243
23 ALDH5A1 NM_001080.3(ALDH5A1): c.1421A> C (p.Asp474Ala) single nucleotide variant Uncertain significance rs142482046 GRCh37 Chromosome 6, 24533753: 24533753
24 ALDH5A1 NM_001080.3(ALDH5A1): c.1421A> C (p.Asp474Ala) single nucleotide variant Uncertain significance rs142482046 GRCh38 Chromosome 6, 24533525: 24533525
25 ALDH5A1 NM_001080.3(ALDH5A1): c.886G> A (p.Ala296Thr) single nucleotide variant Benign/Likely benign rs149482918 GRCh37 Chromosome 6, 24520644: 24520644
26 ALDH5A1 NM_001080.3(ALDH5A1): c.886G> A (p.Ala296Thr) single nucleotide variant Benign/Likely benign rs149482918 GRCh38 Chromosome 6, 24520416: 24520416
27 ALDH5A1 NM_001080.3(ALDH5A1): c.961G> A (p.Val321Met) single nucleotide variant Conflicting interpretations of pathogenicity rs115784602 GRCh37 Chromosome 6, 24520719: 24520719
28 ALDH5A1 NM_001080.3(ALDH5A1): c.961G> A (p.Val321Met) single nucleotide variant Conflicting interpretations of pathogenicity rs115784602 GRCh38 Chromosome 6, 24520491: 24520491
29 ALDH5A1 NM_001080.3(ALDH5A1): c.605C> T (p.Thr202Ile) single nucleotide variant Uncertain significance rs148733464 GRCh37 Chromosome 6, 24503657: 24503657
30 ALDH5A1 NM_001080.3(ALDH5A1): c.605C> T (p.Thr202Ile) single nucleotide variant Uncertain significance rs148733464 GRCh38 Chromosome 6, 24503429: 24503429
31 ALDH5A1 NM_001080.3(ALDH5A1): c.50C> T (p.Ser17Leu) single nucleotide variant Uncertain significance rs753168976 GRCh37 Chromosome 6, 24495274: 24495274
32 ALDH5A1 NM_001080.3(ALDH5A1): c.50C> T (p.Ser17Leu) single nucleotide variant Uncertain significance rs753168976 GRCh38 Chromosome 6, 24495046: 24495046
33 ALDH5A1 NM_001080.3(ALDH5A1): c.1479C> T (p.Asn493=) single nucleotide variant Benign rs200661931 GRCh37 Chromosome 6, 24533811: 24533811
34 ALDH5A1 NM_001080.3(ALDH5A1): c.1479C> T (p.Asn493=) single nucleotide variant Benign rs200661931 GRCh38 Chromosome 6, 24533583: 24533583
35 ALDH5A1 NM_001080.3(ALDH5A1): c.106G> C (p.Gly36Arg) single nucleotide variant Benign/Likely benign rs4646832 GRCh37 Chromosome 6, 24495330: 24495330
36 ALDH5A1 NM_001080.3(ALDH5A1): c.106G> C (p.Gly36Arg) single nucleotide variant Benign/Likely benign rs4646832 GRCh38 Chromosome 6, 24495102: 24495102
37 ALDH5A1 NM_001080.3(ALDH5A1): c.1198G> A (p.Val400Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs147358733 GRCh37 Chromosome 6, 24528249: 24528249
38 ALDH5A1 NM_001080.3(ALDH5A1): c.1198G> A (p.Val400Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs147358733 GRCh38 Chromosome 6, 24528021: 24528021
39 ALDH5A1 NM_001080.3(ALDH5A1): c.354+14G> A single nucleotide variant Uncertain significance rs572861590 GRCh37 Chromosome 6, 24495592: 24495592
40 ALDH5A1 NM_001080.3(ALDH5A1): c.354+14G> A single nucleotide variant Uncertain significance rs572861590 GRCh38 Chromosome 6, 24495364: 24495364
41 ALDH5A1 NM_001080.3(ALDH5A1): c.1348G> A (p.Asp450Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs144177566 GRCh37 Chromosome 6, 24532351: 24532351
42 ALDH5A1 NM_001080.3(ALDH5A1): c.1348G> A (p.Asp450Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs144177566 GRCh38 Chromosome 6, 24532123: 24532123
43 ALDH5A1 NM_001080.3(ALDH5A1): c.1389T> C (p.Asp463=) single nucleotide variant Benign rs58747567 GRCh37 Chromosome 6, 24532392: 24532392
44 ALDH5A1 NM_001080.3(ALDH5A1): c.1389T> C (p.Asp463=) single nucleotide variant Benign rs58747567 GRCh38 Chromosome 6, 24532164: 24532164
45 ALDH5A1 NM_001080.3(ALDH5A1): c.10T> G (p.Cys4Gly) single nucleotide variant Benign/Likely benign rs200793796 GRCh37 Chromosome 6, 24495234: 24495234
46 ALDH5A1 NM_001080.3(ALDH5A1): c.10T> G (p.Cys4Gly) single nucleotide variant Benign/Likely benign rs200793796 GRCh38 Chromosome 6, 24495006: 24495006
47 ALDH5A1 NM_001080.3(ALDH5A1): c.588C> T (p.Gly196=) single nucleotide variant Conflicting interpretations of pathogenicity rs145208127 GRCh37 Chromosome 6, 24503640: 24503640
48 ALDH5A1 NM_001080.3(ALDH5A1): c.588C> T (p.Gly196=) single nucleotide variant Conflicting interpretations of pathogenicity rs145208127 GRCh38 Chromosome 6, 24503412: 24503412
49 ALDH5A1 NM_001080.3(ALDH5A1): c.293C> G (p.Ala98Gly) single nucleotide variant Uncertain significance rs535825137 GRCh37 Chromosome 6, 24495517: 24495517
50 ALDH5A1 NM_001080.3(ALDH5A1): c.293C> G (p.Ala98Gly) single nucleotide variant Uncertain significance rs535825137 GRCh38 Chromosome 6, 24495289: 24495289

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:

37
# 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 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.61 ABAT AKR7A2 ALDH1B1 ALDH2 ALDH3A2 ALDH4A1
2
Show member pathways
12.75 ABAT ALDH2 ALDH5A1 GAD1
3
Show member pathways
12.36 ALDH1B1 ALDH2 ALDH3A2
4
Show member pathways
12.11 ALDH1B1 ALDH2 ALDH3A2
5
Show member pathways
11.98 ALDH1B1 ALDH2 ALDH3A2
6
Show member pathways
11.94 ABAT ALDH5A1 GAD1
7
Show member pathways
11.63 ALDH1B1 ALDH2 ALDH3A2
8 11.44 ALDH1B1 ALDH2 ALDH3A2
9
Show member pathways
11.43 ABAT ALDH1B1 ALDH2 ALDH3A2 ALDH6A1
10 11.4 ALDH1B1 ALDH2 ALDH3A2
11
Show member pathways
11.31 ALDH1B1 ALDH2 ALDH3A2 ALDH4A1
12
Show member pathways
11.23 ALDH1B1 ALDH2 ALDH3A2
13
Show member pathways
11.16 ABAT ALDH5A1 GAD1
14 11.09 ABAT ALDH6A1
15
Show member pathways
11.08 ALDH1B1 ALDH2 ALDH3A2
16
Show member pathways
11.06 ALDH2 ALDH5A1
17 11 ABAT ALDH4A1 ALDH5A1 GAD1
18
Show member pathways
10.87 ABAT ALDH5A1
19
Show member pathways
10.78 ABAT GAD1
20
Show member pathways
10.63 ABAT ALDH1B1 ALDH2 ALDH3A2 ALDH6A1 GAD1
21
Show member pathways
10.62 ABAT GAD1

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 9.43 ABAT ALDH1B1 ALDH2 ALDH4A1 ALDH5A1 ALDH6A1
2 mitochondrial matrix GO:0005759 9.1 ABAT ALDH1B1 ALDH2 ALDH4A1 ALDH5A1 ALDH6A1

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

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.65 AKR7A2 ALDH1B1 ALDH2
2 electron transport chain GO:0022900 9.5 AKR7A2 ALDH2 ALDH4A1
3 ethanol catabolic process GO:0006068 9.46 ALDH1B1 ALDH2
4 ethanol oxidation GO:0006069 9.43 ALDH1B1 ALDH2
5 cellular aldehyde metabolic process GO:0006081 9.4 AKR7A2 ALDH3A2
6 neurotransmitter catabolic process GO:0042135 9.37 ABAT ALDH5A1
7 gamma-aminobutyric acid biosynthetic process GO:0009449 9.26 ABAT GAD1
8 oxidation-reduction process GO:0055114 9.17 AKR7A2 ALDH1B1 ALDH2 ALDH3A2 ALDH4A1 ALDH5A1
9 gamma-aminobutyric acid metabolic process GO:0009448 9.16 ABAT ALDH5A1
10 gamma-aminobutyric acid catabolic process GO:0009450 8.96 ABAT ALDH5A1

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.7 AKR7A2 ALDH1B1 ALDH2 ALDH3A2 ALDH4A1 ALDH5A1
2 electron transfer activity GO:0009055 9.5 AKR7A2 ALDH2 ALDH4A1
3 glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity GO:0043878 9.43 ALDH1B1 ALDH2 ALDH3A2
4 pyridoxal phosphate binding GO:0030170 9.4 ABAT GAD1
5 NAD binding GO:0051287 9.37 ALDH1B1 ALDH2
6 aldehyde dehydrogenase (NAD) activity GO:0004029 9.26 ALDH1B1 ALDH2 ALDH3A2 ALDH4A1
7 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor GO:0016620 9.1 ALDH1B1 ALDH2 ALDH3A2 ALDH4A1 ALDH5A1 ALDH6A1

Sources for Succinic Semialdehyde Dehydrogenase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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