Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
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Carbohydrate Metabolism, Inborn Errors (D002239)
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Microcephaly (D008831)
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Psychomotor Disorders (D011596)
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Seizures (D012640)
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Phosphoglycerate Dehydrogenase Deficiency (C566618)

       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:8906
Name:Phosphoglycerate Dehydrogenase Deficiency
Definition:
Alternative IDs:OMIM:601815
ParentIDs:MESH:D002239|MESH:D008831|MESH:D011596|MESH:D012640
TreeNumbers:C05.660.207.620/C566618 |C10.228.140.490.631/C566618 |C10.500.507.400.500/C566618 |C10.597.606.881/C566618 |C10.597.742/C566618 |C16.131.621.207.620/C566618 |C16.131.666.507.400.500/C566618 |C16.320.565.202/C566618 |C18.452.648.202/C566618 |C23.888.592.604.882/C5
Synonyms:PHGDH Deficiency
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C566618
MeSH: C566618
OMIM: 601815;

Genes: PHGDH;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001181Adducted thumb
3 HP:0007266Cerebral dysmyelination
4 HP:0008734Decreased testicular size
5 HP:0000519Developmental cataract
6 HP:0001510Growth delay
7 HP:0002521Hypsarrhythmia
8 HP:0001249Intellectual disability
9 HP:0001889Megaloblastic anemia
10 HP:0000639Nystagmus
11 HP:0011451Primary microcephaly
12 HP:0001250Seizure
13 HP:0002510Spastic tetraplegia
14 HP:0001873Thrombocytopenia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_006623.3(PHGDH):c.403C>T (p.Arg135Trp)26227PHGDHPathogenic267606949RCV000004074; NMedGen:C1866174,OMIM:6018151120269520120269520NM_006623.3:c.403C>TNP_006614.2:p.Arg135TrpNC_000001.10:g.120269520C>TOMIM Allelic Variant:606879.0004C1866174 601815 Phosphoglycerate dehydrogenase deficiency
NM_006623.3(PHGDH):c.714delG (p.Ile239Serfs)26227PHGDHPathogenic730882181RCV000004073; NMedGen:C1866174,OMIM:6018151120277988120277988NM_006623.3:c.714delGNP_006614.2:p.Ile239SerfsNC_000001.10:g.120277988delGOMIM Allelic Variant:606879.0003C1866174 601815 Phosphoglycerate dehydrogenase deficiency
NM_006623.3(PHGDH):c.781G>A (p.Val261Met)26227PHGDHPathogenic267606947RCV000004076; NMedGen:C1866174,OMIM:6018151120278055120278055NM_006623.3:c.781G>ANP_006614.2:p.Val261MetNC_000001.10:g.120278055G>AOMIM Allelic Variant:606879.0006C1866174 601815 Phosphoglycerate dehydrogenase deficiency
NM_006623.3(PHGDH):c.1129G>A (p.Gly377Ser)26227PHGDHPathogenic267606948RCV000004075; NMedGen:C1866174,OMIM:6018151120284440120284440NM_006623.3:c.1129G>ANP_006614.2:p.Gly377SerNC_000001.10:g.120284440G>AOMIM Allelic Variant:606879.0005C1866174 601815 Phosphoglycerate dehydrogenase deficiency
NM_006623.3(PHGDH):c.1273G>A (p.Val425Met)26227PHGDHPathogenic121907988RCV000004072; NMedGen:C1866174,OMIM:6018151120285493120285493NM_006623.3:c.1273G>ANP_006614.2:p.Val425MetNC_000001.10:g.120285493G>AOMIM Allelic Variant:606879.0002C1866174 601815 Phosphoglycerate dehydrogenase deficiency
NM_006623.3(PHGDH):c.1468G>A (p.Val490Met)26227PHGDHPathogenic121907987RCV000004071; NMedGen:C1866174,OMIM:6018151120286529120286529NM_006623.3:c.1468G>ANP_006614.2:p.Val490MetNC_000001.10:g.120286529G>AOMIM Allelic Variant:606879.0001C1866174 601815 Phosphoglycerate dehydrogenase deficiency