eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| succinic semialdehyde dehydrogenase deficiency | ||||
| Disease ID | 359 |
|---|---|
| Disease | succinic semialdehyde dehydrogenase deficiency |
| Definition | Succinic semialdehyde dehydrogenase deficiency (SSADHD), also known as 4-hydroxybutyric aciduria or gamma-hydroxybutyric aciduria, is a rare autosomal recessive disorder[1] of the degradation pathway of the inhibitory neurotransmitter γ-aminobutyric acid, or GABA. The disorder has been identified in approximately 350 families, with a significant proportion being consanguineous families.[2] The first case was identified in 1981 and published in a Dutch clinical chemistry journal that highlighted a person with a number of neurological conditions such as delayed intellectual, motor, speech, and language as the most common manifestations. Later cases reported in the early 1990s began to show that hypotonia, hyporeflexia, seizures, and a nonprogressive ataxia were frequent clinical features as well.[3] - Wikipedia Reference: https://en.wikipedia.org/wiki/succinic semialdehyde dehydrogenase deficiency |
| Synonym | 4 hydroxybutyric aciduria 4--hydroxybutyric aciduria 4-hydroxybutyric aciduria 4-hydroxybutyricaciduria gaba metabolic defect gabauria gamma-hydroxybutyric acidaemia gamma-hydroxybutyric acidemia gamma-hydroxybutyric aciduria ssadh deficiency ssadhd succinate-semialdehyde dehydrogenase deficiency succinate-semialdehyde dehydrogenase deficiency (disorder) |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0268631 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:34) 130 | ADH6 | 3.944 | DISEASES 131 | ADH7 | 2.501 | DISEASES 5832 | ALDH18A1 | 2.89 | DISEASES 219 | ALDH1B1 | 4.336 | DISEASES 224 | ALDH3A2 | 4.053 | DISEASES 4329 | ALDH6A1 | 4.231 | DISEASES 501 | ALDH7A1 | 3.069 | DISEASES 223 | ALDH9A1 | 3.241 | DISEASES 491 | ATP2B2 | 2.57 | DISEASES 801 | CALM1 | 1.553 | DISEASES 84735 | CNDP1 | 2.454 | DISEASES 4850 | CNOT4 | 2.189 | DISEASES 51473 | DCDC2 | 2.554 | DISEASES 1644 | DDC | 2.526 | DISEASES 147409 | DSG4 | 2.286 | DISEASES 84062 | DTNBP1 | 1.873 | DISEASES 2569 | GABRR1 | 3.108 | DISEASES 2570 | GABRR2 | 3.204 | DISEASES 200959 | GABRR3 | 3.327 | DISEASES 2571 | GAD1 | 4.14 | DISEASES 23560 | GTPBP4 | 2.722 | DISEASES 3009 | HIST1H1B | 2.65 | DISEASES 9856 | KIAA0319 | 2.654 | DISEASES 4099 | MAG | 1.223 | DISEASES 79648 | MCPH1 | 2.308 | DISEASES 2475 | MTOR | 1.39 | DISEASES 5053 | PAH | 1.608 | DISEASES 5091 | PC | 1.83 | DISEASES 26227 | PHGDH | 1.407 | DISEASES 55361 | PI4K2A | 2.285 | DISEASES 6513 | SLC2A1 | 1.441 | DISEASES 6646 | SOAT1 | 2.34 | DISEASES 7436 | VLDLR | 1.805 | DISEASES 23038 | WDTC1 | 1.104 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) ALDH5A1 | 6p22.3 |
| Disease ID | 359 |
|---|---|
| Disease | succinic semialdehyde dehydrogenase deficiency |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:9) HP:0001263 | Global developmental delay HP:0000708 | Behavioral abnormality HP:0001251 | Ataxia HP:0002133 | Status epilepticus HP:0001252 | Muscular hypotonia HP:0002123 | Generalized myoclonic seizures HP:0002069 | Generalized tonic-clonic seizures HP:0001939 | Abnormality of metabolism/homeostasis HP:0001249 | Intellectual disability |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 359 |
|---|---|
| Disease | succinic semialdehyde dehydrogenase deficiency |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs118203982 | NA | 7915 | ALDH5A1 | umls:C0268631 | CLINVAR | NA | 0.562442977 | NA | ALDH5A1 | 6 | 24504871 | G | A |
| rs118203983 | NA | 7915 | ALDH5A1 | umls:C0268631 | CLINVAR | NA | 0.562442977 | NA | ALDH5A1 | 6 | 24528057 | C | T |
| rs118203984 | NA | 7915 | ALDH5A1 | umls:C0268631 | CLINVAR | NA | 0.562442977 | NA | ALDH5A1 | 6 | 24528049 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002069 | Generalized tonic-clonic seizures | MP:0003997 | tonic-clonic seizures | increased number or decreased threshold for the induction of a seizure characterized by initial rigidity followed by rhythmic jerking movements |
| HP:0002123 | Generalized myoclonic seizures | MP:0009358 | environmentally induced seizures | seizure activity response due to changes in ambient habitat including room temperature, lighting, sounds, touching, and/ or moving cage |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0001939 | Abnormality of metabolism/homeostasis | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
Mapped by homologous gene(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002133 | Status epilepticus | MP:0020194 | abnormal glycosphingolipid level | any anomaly in the concentrations of glycosphingolipids, a subtype of glycolipids containing the amino alcohol sphingosine, in the body |
| HP:0001263 | Global developmental delay | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002123 | Generalized myoclonic seizures | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0002069 | Generalized tonic-clonic seizures | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001939 | Abnormality of metabolism/homeostasis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000708 | Behavioral abnormality | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| Disease ID | 359 |
|---|---|
| Disease | succinic semialdehyde dehydrogenase deficiency |
| Case | (Waiting for update.) |