SSADHD
MCID: SCC001
MIFTS: 59

Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD)

Categories: Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Succinic Semialdehyde Dehydrogenase Deficiency

MalaCards integrated aliases for Succinic Semialdehyde Dehydrogenase Deficiency:

Name: Succinic Semialdehyde Dehydrogenase Deficiency 57 11 24 19 42 58 75 73 12 43 14 71
4-Hydroxybutyric Aciduria 57 11 24 19 42 58 73
Gamma-Hydroxybutyric Aciduria 57 11 24 42 58 73
Ssadh Deficiency 57 24 19 42 58 73
Gaba Metabolic Defect 57 19 73
Succinate-Semialdehyde Dehydrogenase Deficiency 28 5
Ssadhd 57 73
Ssadh 11 75
Succinate Semialdehyde Dehydrogenase Deficiency 73
Gamma-Hydroxybutyric Acidemia 42
Gamma-Hydroxybutyricaciduria 19
4-Hydroxybutyricaciduria 42

Characteristics:


Inheritance:

Autosomal recessive 58 57

Age Of Onset:

Childhood,Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
highly variable phenotype
onset in infancy or early childhood


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Succinic Semialdehyde Dehydrogenase Deficiency

MedlinePlus Genetics: 42 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 gaba aminotransferase deficiency and gaba-transaminase deficiency, and has symptoms including ataxia, seizures 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 Metabolism and Regulation of expression of SLITs and ROBOs. The drugs SGS-742 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

GARD: 19 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 genetic changes in the ALDH5A1 gene and is inherited in an autosomal recessive manner.

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 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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, intellectual disability, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances.

Orphanet: 58 A rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.

Disease Ontology: 11 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.

Wikipedia: 75 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 87)
# Related Disease Score Top Affiliating Genes
1 gaba aminotransferase deficiency 30.4 ALDH5A1 ABAT
2 gaba-transaminase deficiency 30.2 ALDH5A1 ABAT
3 gamma-amino butyric acid metabolism disorder 29.0 ALDH9A1 ALDH7A1 ALDH6A1 ALDH5A1 ALDH4A1 ALDH3B2
4 hypotonia 10.9
5 autism spectrum disorder 10.6
6 status epilepticus 10.6
7 autism 10.5
8 visual epilepsy 10.5
9 epilepsy 10.5
10 psychotic disorder 10.5
11 sleep disorder 10.5
12 neurometabolic disease 10.5
13 attention deficit-hyperactivity disorder 10.4
14 abdominal obesity-metabolic syndrome 1 10.4
15 alcohol-related neurodevelopmental disorder 10.4
16 childhood absence epilepsy 10.4
17 dystonia 10.4
18 narcolepsy 10.4
19 myoclonus 10.4
20 homocarnosinosis 10.2 ALDH5A1 ABAT
21 adult syndrome 10.2
22 aniridia 1 10.2
23 apnea, obstructive sleep 10.2
24 obsessive-compulsive disorder 10.2
25 down syndrome 10.2
26 wilms tumor 1 10.2
27 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 10.2
28 spinal muscular atrophy, type i 10.2
29 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.2
30 wilms tumor 5 10.2
31 wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome 10.2
32 brugada syndrome 10.2
33 apraxia 10.2
34 hydrocephalus 10.2
35 neuroleptic malignant syndrome 10.2
36 hypothyroidism 10.2
37 cerebral palsy 10.2
38 focal epilepsy 10.2
39 bronchiolitis 10.2
40 agnosia 10.2
41 myopathy 10.2
42 inherited metabolic disorder 10.2
43 learning disability 10.2
44 hypoglycemia 10.2
45 47 xxx syndrome 10.2
46 children's interstitial lung disease 10.2
47 idiopathic hypersomnia 10.2
48 cerebral atrophy 10.2
49 encephalopathy 10.2
50 hypersomnia 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 30 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001249
2 ataxia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001251
3 hypotonia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001252
4 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
5 abnormality of metabolism/homeostasis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001939
6 behavioral abnormality 58 30 Very rare (1%) Frequent (79-30%)
HP:0000708
7 bilateral tonic-clonic seizure 58 30 Frequent (33%) Frequent (79-30%)
HP:0002069
8 status epilepticus 58 30 Frequent (33%) Frequent (79-30%)
HP:0002133
9 generalized myoclonic seizure 30 Frequent (33%) HP:0002123
10 seizure 30 Very rare (1%) HP:0001250
11 delayed speech and language development 30 Very rare (1%) HP:0000750
12 motor delay 30 Very rare (1%) HP:0001270
13 hyporeflexia 30 Very rare (1%) HP:0001265
14 cerebellar atrophy 30 Very rare (1%) HP:0001272
15 generalized hypotonia 30 Very rare (1%) HP:0001290
16 delayed cns myelination 30 Very rare (1%) HP:0002188
17 eeg abnormality 30 HP:0002353
18 abnormality of eye movement 30 HP:0000496
19 self-injurious behavior 30 HP:0100716
20 hallucinations 30 HP:0000738
21 autism 30 HP:0000717
22 anxiety 30 HP:0000739
23 generalized myoclonic seizures 58 Frequent (79-30%)
24 psychosis 30 HP:0000709
25 aggressive behavior 30 HP:0000718
26 hyperactivity 30 HP:0000752
27 hyperkinetic movements 30 HP:0002487
28 generalized non-motor (absence) seizure 30 HP:0002121
29 elevated urinary 4-hydroxybutyric acid 30 HP:0032528
30 decreased succinic semialdehyde dehydrogenase level 30 HP:0032530
31 elevated csf gamma-aminobutyric acid concentration 30 HP:0032531
32 elevated csf 4-hydroxybutyric acid concentration 30 HP:0032532
33 elevated circulating gamma-aminobutyric acid concentration 30 HP:0410053
34 increased level of gamma-aminobutyric acid in urine 30 HP:0500253

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
ataxia
hypotonia
hyporeflexia
status epilepticus
psychomotor retardation
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 08-Dec-2022)

UMLS symptoms related to Succinic Semialdehyde Dehydrogenase Deficiency:


ataxia; seizures; myoclonic seizures; absence seizures

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.11 ABAT ADSL AKR7A2 ALDH16A1 ALDH18A1 ALDH1A2
2 no effect GR00402-S-2 10.11 ABAT ADSL ALDH16A1 ALDH1A2 ALDH1B1 ALDH2

MGI Mouse Phenotypes related to Succinic Semialdehyde Dehydrogenase Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.77 ADSL ALDH16A1 ALDH1A2 ALDH1A3 ALDH1B1 ALDH1L2
2 mortality/aging MP:0010768 9.44 ABAT ADSL AKR7A2 ALDH18A1 ALDH1A2 ALDH1A3

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
SGS-742 Investigational Phase 2 123690-78-8 130021
2 Neurotransmitter Agents Phase 2
3 Neuroprotective Agents Phase 2
4 Protective 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 28 ALDH5A1

Anatomical Context for Succinic Semialdehyde Dehydrogenase Deficiency

Organs/tissues related to Succinic Semialdehyde Dehydrogenase Deficiency:

MalaCards : Eye, Brain, Globus Pallidus, Subthalamic Nucleus, Cortex, Cerebellum, Liver

Publications for Succinic Semialdehyde Dehydrogenase Deficiency

Articles related to Succinic Semialdehyde Dehydrogenase Deficiency:

(show top 50) (show all 378)
# 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. 62 24 57 5
14635103 2003
2
Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency. 62 57 5
32887777 2020
3
Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency. 62 57 5
32402538 2020
4
Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). 62 57 5
9683595 1998
5
Mutation analysis and prenatal diagnosis in a Chinese family with succinic semialdehyde dehydrogenase and a systematic review of the literature of reported ALDH5A1 mutations. 62 24 5
25431891 2016
6
Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood. 62 24 5
26268900 2015
7
Neuropathology in succinic semialdehyde dehydrogenase deficiency. 62 24 5
20304328 2010
8
Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. 62 24 57
12743223 2003
9
Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses. 62 24 5
11243727 2001
10
Differing clinical presentation of succinic semialdehyde dehydrogenase deficiency in adolescent siblings from Lifu Island, New Caledonia. 62 24 57
9266358 1997
11
The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients. 62 24 57
9093300 1997
12
A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog. 62 57
32887425 2020
13
Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency. 62 5
32395407 2020
14
Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency. 62 5
31117962 2019
15
Psychomotor delay, hypotonia, and behavioural disorders: A case of succinic semialdehyde dehydrogenase deficiency. 62 5
26964512 2018
16
SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site. 62 5
28664505 2017
17
Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency. 62 5
27815844 2017
18
A case of succinic semialdehyde dehydrogenase deficiency with status epilepticus and rapid regression. 62 5
27117035 2016
19
Eye Findings on Vigabatrin and Taurine Treatment in Two Patients with Succinic Semialdehyde Dehydrogenase Deficiency. 62 5
27104484 2016
20
GABAB-ergic motor cortex dysfunction in SSADH deficiency. 62 57
22722631 2012
21
Head bobbing due to succinic semialdehyde dehydrogenase deficiency. 62 57
20548048 2010
22
Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency. 62 57
17438226 2007
23
Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation. 62 57
16542398 2006
24
4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism. 62 57
9553943 1998
25
Prenatal detection of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria) 62 57
8464836 1993
26
Succinic semialdehyde dehydrogenase deficiency--a further case. 62 57
2433500 1985
27
Defective succinic semialdehyde dehydrogenase activity in 4-hydroxybutyric aciduria. 62 57
6489377 1984
28
Succinic semialdehyde dehydrogenase deficiency. 62 57
6536727 1984
29
Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism. 62 57
6627675 1983
30
A new patient with 4-hydroxybutyric aciduria, a possible defect of 4-aminobutyrate metabolism. 62 57
6133657 1983
31
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability. 5
32238909 2020
32
A case of acute onset succinic semialdehyde dehydrogenase deficiency: neuroimaging findings and literature review. 62 24
26499347 2016
33
Defects in GABA metabolism affect selective autophagy pathways and are alleviated by mTOR inhibition. 62 24
24578415 2014
34
Taurine trial in succinic semialdehyde dehydrogenase deficiency and elevated CNS GABA. 62 24
24523482 2014
35
Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency. 62 24
27896081 2014
36
Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. 62 24
22739941 2013
37
Therapeutic efficacy of magnesium valproate in succinic semialdehyde dehydrogenase deficiency. 62 24
23430529 2013
38
A novel ALDH5A1 mutation in a patient with succinic semialdehyde dehydrogenase deficiency. 62 24
22437753 2012
39
Efficacy of vigabatrin intervention in a mild phenotypic expression of succinic semialdehyde dehydrogenase deficiency. 62 24
23430864 2012
40
Familial 6p22.2 duplication associates with mild developmental delay and increased SSADH activity. 62 24
21438145 2011
41
Aberrant GABA(A) receptor-mediated inhibition in cortico-thalamic networks of succinic semialdehyde dehydrogenase deficient mice. 62 24
21526163 2011
42
4-Hydroxybutyric aciduria associated with catheter usage: a diagnostic pitfall in the identification of SSADH deficiency. 62 24
20965758 2011
43
Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency. 62 24
20445195 2010
44
[Succinic semialdehyde dehydrogenase deficiency: decrease in 4-OH-butyric acid levels with low doses of vigabatrin]. 62 24
20018576 2010
45
Polysomnographic abnormalities in succinic semialdehyde dehydrogenase (SSADH) deficiency. 62 24
20041601 2009
46
Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men. 62 24
19172412 2009
47
Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients. 62 24
18622364 2008
48
A ketogenic diet rescues the murine succinic semialdehyde dehydrogenase deficient phenotype. 62 24
18199435 2008
49
Status epilepticus in mice deficient for succinate semialdehyde dehydrogenase: GABAA receptor-mediated mechanisms. 62 24
16240371 2006
50
Inherited disorders of neurotransmitters in children and adults. 62 24
16298354 2005

Variations for Succinic Semialdehyde Dehydrogenase Deficiency

ClinVar genetic disease variations for Succinic Semialdehyde Dehydrogenase Deficiency:

5 (show top 50) (show all 505)
# 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.1014+723_1173+796del DEL Pathogenic
1360 GRCh37: 6:24521492-24523946
GRCh38: 6:24521264-24523718
4 ALDH5A1 NM_001080.3(ALDH5A1):c.321G>A (p.Glu107=) SNV Pathogenic
992960 rs1764675543 GRCh37: 6:24495545-24495545
GRCh38: 6:24495317-24495317
5 ALDH5A1 NC_000006.11:g.(?_24532327)_(24533940_?)del DEL Pathogenic
1358625 GRCh37: 6:24532327-24533940
GRCh38:
6 ALDH5A1, GPLD1 NM_001080.3(ALDH5A1):c.36_37del (p.Arg13fs) DEL Pathogenic
1323000 GRCh37: 6:24495259-24495260
GRCh38: 6:24495031-24495032
7 ALDH5A1 NM_001080.3(ALDH5A1):c.1343+1del DEL Pathogenic
1333253 GRCh37: 6:24528395-24528395
GRCh38: 6:24528167-24528167
8 ALDH5A1 NM_001080.3(ALDH5A1):c.379_380del (p.Trp127fs) DEL Pathogenic
1429807 GRCh37: 6:24502774-24502775
GRCh38: 6:24502546-24502547
9 ALDH5A1 NM_001080.3(ALDH5A1):c.352A>T (p.Lys118Ter) SNV Pathogenic
1452396 GRCh37: 6:24495576-24495576
GRCh38: 6:24495348-24495348
10 ALDH5A1 NM_001080.3(ALDH5A1):c.424_425del (p.Ile142fs) DEL Pathogenic
1350850 GRCh37: 6:24502820-24502821
GRCh38: 6:24502592-24502593
11 ALDH5A1 NM_001080.3(ALDH5A1):c.397C>T (p.Gln133Ter) SNV Pathogenic
940067 rs758087862 GRCh37: 6:24502793-24502793
GRCh38: 6:24502565-24502565
12 ALDH5A1 NM_001080.3(ALDH5A1):c.307_308insA (p.Arg103fs) INSERT Pathogenic
948582 rs1764674805 GRCh37: 6:24495531-24495532
GRCh38: 6:24495303-24495304
13 ALDH5A1 NM_001080.3(ALDH5A1):c.854C>G (p.Ser285Ter) SNV Pathogenic
1070877 GRCh37: 6:24515522-24515522
GRCh38: 6:24515294-24515294
14 ALDH5A1, GPLD1 NM_001080.3(ALDH5A1):c.276del (p.Cys93fs) DEL Pathogenic
1070905 GRCh37: 6:24495500-24495500
GRCh38: 6:24495272-24495272
15 ALDH5A1 NM_001080.3(ALDH5A1):c.896_897del (p.Ser299fs) MICROSAT Pathogenic
1075603 GRCh37: 6:24520652-24520653
GRCh38: 6:24520424-24520425
16 ALDH5A1 NM_001080.3(ALDH5A1):c.1234C>T (p.Arg412Ter) SNV Pathogenic
1358 rs118203983 GRCh37: 6:24528285-24528285
GRCh38: 6:24528057-24528057
17 ALDH5A1 NM_001080.3(ALDH5A1):c.1343+1_1343+3delinsTT INDEL Pathogenic
225890 rs875989801 GRCh37: 6:24528395-24528397
GRCh38: 6:24528167-24528169
18 ALDH5A1 NM_001080.3(ALDH5A1):c.660_666del (p.Ala221fs) DEL Pathogenic
1435168 GRCh37: 6:24505144-24505150
GRCh38: 6:24504916-24504922
19 ALDH5A1, GPLD1 NM_001080.3(ALDH5A1):c.104_127del (p.Ser35_Gln43delinsTer) DEL Pathogenic
582120 rs1561865665 GRCh37: 6:24495328-24495351
GRCh38: 6:24495100-24495123
20 ALDH5A1 NM_001080.3(ALDH5A1):c.1343+1G>A SNV Pathogenic
587401 rs1561879380 GRCh37: 6:24528395-24528395
GRCh38: 6:24528167-24528167
21 ALDH5A1 NM_001080.3(ALDH5A1):c.1506_1521dup (p.Lys508fs) DUP Pathogenic
835064 rs1759979356 GRCh37: 6:24533829-24533830
GRCh38: 6:24533601-24533602
22 ALDH5A1 NM_001080.3(ALDH5A1):c.1597G>A (p.Gly533Arg) SNV Pathogenic
426524 rs72552284 GRCh37: 6:24533929-24533929
GRCh38: 6:24533701-24533701
23 ALDH5A1 NM_001080.3(ALDH5A1):c.318C>G (p.Tyr106Ter) SNV Pathogenic
1070800 GRCh37: 6:24495542-24495542
GRCh38: 6:24495314-24495314
24 ALDH5A1 NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter) SNV Pathogenic
1357 rs118203982 GRCh37: 6:24505099-24505099
GRCh38: 6:24504871-24504871
25 ALDH5A1 NM_001080.3(ALDH5A1):c.728_736del (p.Leu243_Ser245del) DEL Pathogenic
1691448 GRCh37: 6:24515395-24515403
GRCh38: 6:24515167-24515175
26 ALDH5A1 NM_001080.3(ALDH5A1):c.819del (p.Asp274fs) DEL Pathogenic
521941 rs778127154 GRCh37: 6:24515487-24515487
GRCh38: 6:24515259-24515259
27 ALDH5A1 NM_001080.3(ALDH5A1):c.610-2A>G SNV Pathogenic
459990 rs1301821497 GRCh37: 6:24505095-24505095
GRCh38: 6:24504867-24504867
28 ALDH5A1 NC_000006.12:g.(?_24527977)_(24528186_?)del DEL Pathogenic
583913 GRCh37: 6:24528205-24528414
GRCh38: 6:24527977-24528186
29 ALDH5A1, GPLD1 NM_001080.3(ALDH5A1):c.278G>T (p.Cys93Phe) SNV Pathogenic
449408 rs765561257 GRCh37: 6:24495502-24495502
GRCh38: 6:24495274-24495274
30 ALDH5A1 NM_001080.3(ALDH5A1):c.1402+1G>A SNV Pathogenic
838828 rs762290992 GRCh37: 6:24532406-24532406
GRCh38: 6:24532178-24532178
31 ALDH5A1 NM_001080.3(ALDH5A1):c.526G>A (p.Gly176Arg) SNV Pathogenic
379247 rs72552281 GRCh37: 6:24503578-24503578
GRCh38: 6:24503350-24503350
32 ALDH5A1 NM_001080.3(ALDH5A1):c.1540C>T (p.Arg514Ter) SNV Pathogenic
1069046 GRCh37: 6:24533872-24533872
GRCh38: 6:24533644-24533644
33 ALDH5A1, GPLD1 NM_001080.3(ALDH5A1):c.34dup (p.Ala12fs) DUP Pathogenic
1075244 GRCh37: 6:24495254-24495255
GRCh38: 6:24495026-24495027
34 ALDH5A1 NC_000006.11:g.(?_24505087)_(24533940_?)del DEL Pathogenic
1076224 GRCh37: 6:24505087-24533940
GRCh38:
35 ALDH5A1, GPLD1 NM_001080.3(ALDH5A1):c.123_127dup (p.Gln43fs) MICROSAT Pathogenic
964314 rs1273153948 GRCh37: 6:24495337-24495338
GRCh38: 6:24495109-24495110
36 ALDH5A1 NM_001080.3(ALDH5A1):c.1323dup (p.Pro442fs) DUP Pathogenic
595206 rs1561879345 GRCh37: 6:24528371-24528372
GRCh38: 6:24528143-24528144
37 ALDH5A1 NM_001080.3(ALDH5A1):c.335G>A (p.Trp112Ter) SNV Pathogenic
938537 rs1764675949 GRCh37: 6:24495559-24495559
GRCh38: 6:24495331-24495331
38 ALDH5A1 NM_001080.3(ALDH5A1):c.1015-2A>C SNV Pathogenic
959632 rs769111673 GRCh37: 6:24522993-24522993
GRCh38: 6:24522765-24522765
39 ALDH5A1 NM_001080.3(ALDH5A1):c.1015-1G>C SNV Pathogenic
1452915 GRCh37: 6:24522994-24522994
GRCh38: 6:24522766-24522766
40 ALDH5A1 NM_001080.3(ALDH5A1):c.621del (p.Ser208fs) DEL Pathogenic
664746 rs1306678453 GRCh37: 6:24505105-24505105
GRCh38: 6:24504877-24504877
41 ALDH5A1 NM_001080.3(ALDH5A1):c.803G>A (p.Gly268Glu) SNV Pathogenic
235512 rs375628463 GRCh37: 6:24515471-24515471
GRCh38: 6:24515243-24515243
42 ALDH5A1 NM_001080.3(ALDH5A1):c.967_968dup (p.Gln323fs) DUP Pathogenic
1073790 GRCh37: 6:24520724-24520725
GRCh38: 6:24520496-24520497
43 ALDH5A1 NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp) SNV Pathogenic
1359 rs118203984 GRCh37: 6:24528277-24528277
GRCh38: 6:24528049-24528049
44 ALDH5A1 NM_001080.3(ALDH5A1):c.566_567insTTGCCCT (p.Val190fs) INSERT Pathogenic
663114 rs755029414 GRCh37: 6:24503613-24503614
GRCh38: 6:24503385-24503386
45 ALDH5A1 NM_001080.3(ALDH5A1):c.608C>T (p.Pro203Leu) SNV Pathogenic
1334843 GRCh37: 6:24503660-24503660
GRCh38: 6:24503432-24503432
46 ALDH5A1 NM_001080.3(ALDH5A1):c.1402+1G>T SNV Likely Pathogenic
984711 rs762290992 GRCh37: 6:24532406-24532406
GRCh38: 6:24532178-24532178
47 ALDH5A1 NM_001080.3(ALDH5A1):c.1343_1344insTAA (p.Ile447_Lys448insAsn) INSERT Likely Pathogenic
1507454 GRCh37: 6:24528392-24528393
GRCh38: 6:24528164-24528165
48 ALDH5A1 NM_001080.3(ALDH5A1):c.1015-3C>G SNV Likely Pathogenic
1478419 GRCh37: 6:24522992-24522992
GRCh38: 6:24522764-24522764
49 ALDH5A1 NC_000006.11:g.(?_24502731)_(24515558_?)del DEL Likely Pathogenic
1502177 GRCh37: 6:24502731-24515558
GRCh38:
50 ALDH5A1 NM_001080.3(ALDH5A1):c.1576G>T (p.Glu526Ter) SNV Likely Pathogenic
1346959 GRCh37: 6:24533908-24533908
GRCh38: 6:24533680-24533680

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

73 (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 rs1326526453
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 GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.89 SLC6A8 ALDH9A1 ALDH7A1 ALDH6A1 ALDH4A1 ALDH3B1
2
Show member pathways
12.73 SLC6A8 ALDH9A1 ALDH7A1 ALDH6A1 ALDH4A1 ALDH18A1
3
Show member pathways
11.77 ALDH5A1 ALDH3A2 ABAT
4
Show member pathways
11.08 ALDH2 ALDH3A2 ALDH9A1
5
Show member pathways
11.02 ALDH5A1 ALDH2
6
Show member pathways
10.94 ALDH5A1 AKR7A2 ABAT
7
Show member pathways
10.91 ALDH9A1 ALDH2 ALDH1A3 ALDH1A2
8
Show member pathways
10.85 ALDH5A1 ABAT
9 10.82 ALDH2 ALDH1A3 ALDH1A2
10 10.73 ALDH9A1 ALDH1B1
11
Show member pathways
10.66 ALDH9A1 ABAT
12 10.55 ALDH9A1 ABAT
13 10.25 ALDH1A3 ALDH1A2

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 9.91 ALDH7A1 ALDH6A1 ALDH5A1 ALDH4A1 ALDH2 ALDH1L2
2 mitochondrial matrix GO:0005759 9.53 ALDH7A1 ALDH6A1 ALDH5A1 ALDH4A1 ALDH2 ALDH1L2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 electron transport chain GO:0022900 9.97 ALDH4A1 ALDH2 AKR7A2
2 lipid metabolic process GO:0006629 9.96 AKR7A2 ALDH1A2 ALDH1A3 ALDH3A2 ALDH3B1 ALDH3B2
3 protein homotetramerization GO:0051289 9.95 ALDH1A2 ALDH1A3 ALDH9A1
4 glutamate metabolic process GO:0006536 9.83 ALDH5A1 ALDH18A1
5 embryonic camera-type eye development GO:0031076 9.81 ALDH1A3 ALDH1A2
6 neurotransmitter catabolic process GO:0042135 9.76 ALDH5A1 ABAT
7 retinoic acid biosynthetic process GO:0002138 9.73 ALDH1A2 ALDH1A3
8 aldehyde catabolic process GO:0046185 9.71 ALDH2 ALDH3B1
9 alcohol metabolic process GO:0006066 9.63 ALDH3B2 ALDH3B1 ALDH2
10 gamma-aminobutyric acid catabolic process GO:0009450 9.62 ALDH5A1 ABAT
11 ethanol catabolic process GO:0006068 9.56 ALDH3B2 ALDH3B1 ALDH2 ALDH1B1
12 gamma-aminobutyric acid metabolic process GO:0009448 9.54 ALDH5A1 ABAT
13 cellular aldehyde metabolic process GO:0006081 9.4 ALDH9A1 ALDH7A1 ALDH3B2 ALDH3B1 ALDH3A2 AKR7A2

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 10.06 AKR7A2 ALDH16A1 ALDH18A1 ALDH1A2 ALDH1A3 ALDH1B1
2 glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity GO:0043878 10.03 ALDH1B1 ALDH2 ALDH3A2 ALDH3B2 ALDH7A1 ALDH9A1
3 aldehyde dehydrogenase [NAD(P)+] activity GO:0004030 9.92 ALDH3B2 ALDH3B1 ALDH2 ALDH1A3
4 electron transfer activity GO:0009055 9.91 ALDH4A1 ALDH2 AKR7A2
5 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor GO:0016620 9.86 ALDH16A1 ALDH18A1 ALDH1A2 ALDH1A3 ALDH1B1 ALDH1L2
6 3-chloroallyl aldehyde dehydrogenase activity GO:0004028 9.85 ALDH3B2 ALDH3B1 ALDH1A2
7 catalytic activity GO:0003824 9.76 ALDH1L2 ALDH18A1 ADSL ABAT
8 retinal dehydrogenase activity GO:0001758 9.71 ALDH1A3 ALDH1A2
9 aldehyde dehydrogenase (NAD+) activity GO:0004029 9.66 ALDH1A2 ALDH1A3 ALDH1B1 ALDH1L2 ALDH2 ALDH3A2

Sources for Succinic Semialdehyde Dehydrogenase Deficiency

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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