ALDH5A1
Homo sapiens
Gene Name: aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase )
Aliases: SSDH, SSADH
Chromosome No: 6
Chromosome Band: 6p22.3
Genetic Category: Syndromic--Rare single gene variant-Functional
Associated Syndrome(s): SSADH deficiency
Aliases: SSDH, SSADH
Chromosome No: 6
Chromosome Band: 6p22.3
Genetic Category: Syndromic--Rare single gene variant-Functional
Associated Syndrome(s): SSADH deficiency
Summary Statistics:
ASD Reports: 16
Recent Reports: 2
Annotated variants: 15
Associated CNVs: 4
Evidence score: 2
ASD Reports: 16
Recent Reports: 2
Annotated variants: 15
Associated CNVs: 4
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
This gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism.
Molecular Function
The encoded protein is a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Clinical spectrum of succinic semialdehyde dehydrogenase deficiency.
SSADH deficiency
Autism
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability
ID
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Distur
ASD
DD, ID
Support
Bi-allelic Mutations in ALDH5A1 is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability
SSADH deficiency
ASD, ADHD, DD, ID, epilepsy/seizures
Support
Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).
SSADH deficiency
Autism
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Support
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
SSADH deficiency
ID, hypotonia
Support
SSADH deficiency possibly associated with enzyme activity-reducing SNPs.
SSADH deficiency
DD, ASD, epilepsy
Highly Cited
Distribution of messenger RNAs for aldehyde dehydrogenase 1, aldehyde dehydrogenase 2, and aldehyde dehydrogenase 5 in human tissues.
Recent Recommendation
Testicular germ cell tumors. Clinically relevant pathologic findings.
Recent Recommendation
Succinic semialdehyde dehydrogenase deficiency (SSADH) (4-hydroxybutyric aciduria, gamma-hydroxybutyric aciduria).
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN009R001a
splice_site_variant
G>T
Familial
Both parents
Extended multiplex
GEN009R009a
missense_variant
c.1321G>A
p.Gly441Arg
Familial
Both parents
Multiplex
GEN009R011a
missense_variant
c.698C>T
p.Thr233Met
Familial
Both parents
GEN009R014
frameshift_variant
c.858del
p.Asp287IlefsTer27
Familial
Maternal
Multiplex
Common
No Common Variants Available
