Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandMicrocephaly (D008831)
Parent Node:
expandPsychomotor Disorders (D011596)
Parent Node:
expandSeizures (D012640)
..Starting node
..expandPhosphoserine Aminotransferase Deficiency (C567032)

       Child Nodes:



 Sister Nodes: 
..expandAdams Nance syndrome (C538224)
..expandAlcohol Withdrawal Seizures (D020270)
..expandAlopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370)
..expandBaraitser Rodeck Garner syndrome (C537906)
..expandCerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..expandChromosome 15q13.3 Microdeletion Syndrome (C567439)
..expandConvulsive Disorder, Familial, with Prenatal or Early Onset (C565678)
..expandCopper deficiency, familial benign (C535468)
..expandCryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
..expandDysmyelination With Jaundice (C565610)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 (OMIM:613721)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 (OMIM:613722)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 (OMIM:613477)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 (OMIM:613720)
..expandHyper-Beta-Alaninemia (C562684)
..expandHyperleucine-Isoleucinemia (C562674)
..expandHyperphosphatemia, Polyuria, and Seizures (C565494)
..expandHypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..expandHypotonia, Seizures, And Precocious Puberty (C567566)
..expandInfantile convulsions and paroxysmal choreoathetosis, familial (C535522)
..expandMental retardation, keratoconus, febrile seizures, and sinoatrial block (C537452)
..expandMental retardation, X-linked, syndromic 5 (C535773)
..expandMethionine Malabsorption Syndrome (C562682)
..expandMicrocephaly seizures genital hypoplasia (C537540)
..expandMicrocephaly seizures mental retardation heart disorders (C537544)
..expandMicrocephaly sparse hair mental retardation seizures (C537545)
..expandMICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..expandMICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..expandMuller Barth Menger syndrome (C537370)
..expandPACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)
..expandPartington X-linked mental retardation syndrome (C536300)
..expandPerniola Krajewska Carnevale syndrome (C536660)
..expandPhosphoglycerate Dehydrogenase Deficiency (C566618)
..expandPhosphoserine Aminotransferase Deficiency (C567032)
..expandPyridoxamine 5-Prime-Phosphate Oxidase Deficiency (C566449)
..expandQazi Markouizos syndrome (C536259)
..expandSeSAME syndrome (C557674)
..expandTranebjaerg Svejgaard syndrome (C536978)
..expandWarman Mulliken Hayward syndrome (C536684)
..expandX-linked mental retardation Gustavson type (C536759)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:8911
Name:Phosphoserine Aminotransferase Deficiency
Definition:
Alternative IDs:OMIM:610992
ParentIDs:MESH:D008831|MESH:D011596|MESH:D012640
TreeNumbers:C05.660.207.620/C567032 |C10.228.140.490.631/C567032 |C10.500.507.400.500/C567032 |C10.597.606.881/C567032 |C10.597.742/C567032 |C16.131.621.207.620/C567032 |C16.131.666.507.400.500/C567032 |C23.888.592.604.882/C567032 |C23.888.592.742/C567032
Synonyms:PSATD |PSAT Deficiency
Slim Mappings:Congenital abnormality|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C567032
MeSH: C567032
OMIM: 610992;

Genes: PSAT1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0001320Cerebellar vermis hypoplasia
4 HP:0008872Feeding difficulties in infancy
5 HP:0001263Global developmental delay
6 HP:0001276Hypertonia
7 HP:0012277Hypoglycinemia
8 HP:0012279Hyposerinemia
9 HP:0005484Secondary microcephaly
10 HP:0001250Seizure
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_058179.3(PSAT1):c.107delG (p.Gly36Alafs)29968PSAT1Pathogenic587777747RCV000001136; NMedGen:C1970253,OMIM:610992,ORPHA:28441798091556480915564NM_058179.3:c.107delGNP_478059.1:p.Gly36AlafsOMIM Allelic Variant:610936.0001C1970253 610992 Phosphoserine aminotransferase deficiency
NM_058179.3(PSAT1):c.299A>C (p.Asp100Ala)29968PSAT1Pathogenic118203967RCV000001137; NMedGen:C1970253,OMIM:610992,ORPHA:28441798091975880919758NM_058179.3:c.299A>CNP_478059.1:p.Asp100AlaNC_000009.11:g.80919758A>COMIM Allelic Variant:610936.0002C1970253 610992 Phosphoserine aminotransferase deficiency