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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   gaba-transaminase deficiency
  

Disease ID 1984
Disease gaba-transaminase deficiency
Synonym
4 alpha aminobutyrate transaminase deficiency
gaba transaminase deficiency
gamma aminobutyrate transaminase deficiency
gamma aminobutyric acid transaminase deficiency
gamma-aminobutyric acid transaminase deficiency
gamma-aminobutyric acid transaminase deficiency (disorder)
Orphanet
OMIM
DOID
UMLS
C0342708
SNOMED-CT
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
18  |  ABAT  |  CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 1984
Disease gaba-transaminase deficiency
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:12)
HP:0001250  |  Seizures
HP:0002415  |  Degeneration of white matter of brain
HP:0001263  |  Developmental retardation
HP:0001347  |  Hyperreflexia
HP:0001254  |  Lethargy
HP:0000098  |  Increased body height
HP:0000278  |  Receding lower jaw
HP:0000494  |  Downward slanting palpebral fissures
HP:0001274  |  Absent corpus callosum
HP:0001321  |  Small cerebellum
HP:0007291  |  Posterior fossa cyst
HP:0006829  |  Severe muscular hypotonia
Text Mined Phenotype(Waiting for update.)
Disease ID 1984
Disease gaba-transaminase deficiency
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:4)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs121434578NA18ABATumls:C0342708CLINVARNA0.48NAABAT168768248GA
rs724159990NA18ABATumls:C0342708CLINVARNA0.48NAABAT168768220CT
rs724159991NA18ABATumls:C0342708CLINVARNA0.48NAABAT168781360TC
rs724159992NA18ABATumls:C0342708CLINVARNA0.48NAABAT168750498GA
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:4)
HP ID HP Name MP ID MP Name Annotation
HP:0006829Severe muscular hypotoniaMP:0002269muscular atrophyacquired diminution of muscle tissue associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occ
HP:0001274Agenesis of corpus callosumMP:0013808abnormal tunnel of Corti morphologyany structrual anomaly of the triangular, fluid-filled space normally found between the inner and outer rows of supporting pillar cells in the organ of Corti
HP:0001321Cerebellar hypoplasiaMP:0010422heart right ventricle hypoplasiaunderdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells
HP:0001263Global developmental delayMP:0002084abnormal developmental patterningabnormal systematic arrangement of the developing body along an axis
Mapped by homologous gene(Total Items:12)
HP ID HP Name MP ID MP Name Annotation
HP:0000278RetrognathiaMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0001321Cerebellar hypoplasiaMP:0014185cerebellum atrophyacquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal
HP:0002415LeukodystrophyMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001263Global developmental delayMP:3000003abnormal Ebner's gland morphologyany 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:0007291Posterior fossa cystMP:0014152absent exorbital lacrimal glandabsence of the large extra-orbital lacrimal gland that, in mice, is normally located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland
HP:0001274Agenesis of corpus callosumMP:3000003abnormal Ebner's gland morphologyany 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:0001250SeizuresMP:3000003abnormal Ebner's gland morphologyany 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:0006829Severe muscular hypotoniaMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001254LethargyMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000098Tall statureMP:0020039increased bone ossificationincrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0001347HyperreflexiaMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000494Downslanted palpebral fissuresMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
Disease ID 1984
Disease gaba-transaminase deficiency
Case(Waiting for update.)