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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Brain Diseases, Metabolic (D001928)
Parent Node: Hypoxia-Ischemia, Brain (D020925)
Parent Node: Seizures (D012640)
..Starting node ..Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency (C566449)
Child Nodes:
Sister Nodes:
..Adams Nance syndrome (C538224)
..Alcohol Withdrawal Seizures (D020270)
..Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370)
..Baraitser Rodeck Garner syndrome (C537906)
..Cerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..Chromosome 15q13.3 Microdeletion Syndrome (C567439)
..Convulsive Disorder, Familial, with Prenatal or Early Onset (C565678)
..Copper deficiency, familial benign (C535468)
..Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
..Dysmyelination With Jaundice (C565610)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 (OMIM:613721)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 (OMIM:613722)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 (OMIM:613477)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 (OMIM:613720)
..Hyper-Beta-Alaninemia (C562684)
..Hyperleucine-Isoleucinemia (C562674)
..Hyperphosphatemia, Polyuria, and Seizures (C565494)
..Hypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..Hypotonia, Seizures, And Precocious Puberty (C567566)
..Infantile convulsions and paroxysmal choreoathetosis, familial (C535522)
..Mental retardation, keratoconus, febrile seizures, and sinoatrial block (C537452)
..Mental retardation, X-linked, syndromic 5 (C535773)
..Methionine Malabsorption Syndrome (C562682)
..Microcephaly seizures genital hypoplasia (C537540)
..Microcephaly seizures mental retardation heart disorders (C537544)
..Microcephaly sparse hair mental retardation seizures (C537545)
..MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..Muller Barth Menger syndrome (C537370)
..PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)
..Partington X-linked mental retardation syndrome (C536300)
..Perniola Krajewska Carnevale syndrome (C536660)
..Phosphoglycerate Dehydrogenase Deficiency (C566618)
..Phosphoserine Aminotransferase Deficiency (C567032)
..Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency (C566449)
..Qazi Markouizos syndrome (C536259)
..SeSAME syndrome (C557674)
..Tranebjaerg Svejgaard syndrome (C536978)
..Warman Mulliken Hayward syndrome (C536684)
..X-linked mental retardation Gustavson type (C536759)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9541

Name:

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

Definition:

Alternative IDs:

OMIM:610090

ParentIDs:

MESH:D001928|MESH:D012640|MESH:D020925

TreeNumbers:

C10.228.140.163/C566449 |C10.228.140.300.150.716/C566449 |C10.228.140.490.631/C566449 |C10.228.140.624.500/C566449 |C10.597.742/C566449 |C14.907.253.092.716/C566449 |C18.452.132/C566449 |C23.888.592.742/C566449

Synonyms:

Slim Mappings:

Cardiovascular disease|Metabolic disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C566449
MeSH: C566449
OMIM: 610090;

Genes: PNPO;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000496	Abnormality of eye movement
3	HP:0001903	Anemia
4	HP:0003785	Decreased CSF homovanillic acid
5	HP:0001298	Encephalopathy
6	HP:0001508	Failure to thrive
7	HP:0008872	Feeding difficulties in infancy
8	HP:0001263	Global developmental delay
9	HP:0001276	Hypertonia
10	HP:0001943	Hypoglycemia
11	HP:0002151	Increased serum lactate
12	HP:0001942	Metabolic acidosis
13	HP:0008936	Muscular hypotonia of the trunk
14	HP:0001336	Myoclonus
15	HP:0001622	Premature birth
16	HP:0000253	Progressive microcephaly
17	HP:0001250	Seizure
18	HP:0002317	Unsteady gait

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_018129.3(PNPO):c.364_417del54	55163	PNPO	Pathogenic	774710082	RCV000006897;	N	MedGen:C1864723,OMIM:610090,ORPHA:79096	17	46022924	46022924	NM_018129.3:c.364_417del54		NC_000017.10:g.46022924G>A	OMIM Allelic Variant:603287.0002	C1864723 610090 Pyridoxal 5'-phosphate-dependent epilepsy
NM_018129.3(PNPO):c.448_451delCCTG (p.Pro150Argfs)	55163	PNPO	Likely pathogenic;Pathogenic	796052872	RCV000194659; RCV000188508;	N	MedGen:C1864723,OMIM:610090,ORPHA:79096; MedGen:CN221809	17	46023257	46023260	NM_018129.3:c.448_451delCCTG	NP_060599.1:p.Pro150Argfs	NC_000017.10:g.46023257_46023260delCCTG	-	CN221809 not provided; C1864723 610090 Pyridoxal 5'-phosphate-dependent epilepsy
NM_018129.3(PNPO):c.520C>T (p.Gln174Ter)	55163	PNPO	Pathogenic	267606958	RCV000006899;	N	MedGen:C1864723,OMIM:610090,ORPHA:79096	17	46023329	46023329	NM_018129.3:c.520C>T	NP_060599.1:p.Gln174Ter	NC_000017.10:g.46023329C>T	OMIM Allelic Variant:603287.0004	C1864723 610090 Pyridoxal 5'-phosphate-dependent epilepsy
NM_018129.3(PNPO):c.674G>A (p.Arg225His)	55163	PNPO	Pathogenic	550423482	RCV000208779;	N	MedGen:C1864723,OMIM:610090,ORPHA:79096	17	46024036	46024036	NM_018129.3:c.674G>A	NP_060599.1:p.Arg225His		OMIM Allelic Variant:603287.0005	C1864723 610090 Pyridoxal 5'-phosphate-dependent epilepsy
NM_018129.3(PNPO):c.685C>T (p.Arg229Trp)	55163	PNPO	Pathogenic	104894629	RCV000006896;	N	MedGen:C1864723,OMIM:610090,ORPHA:79096	17	46024047	46024047	NM_018129.3:c.685C>T	NP_060599.1:p.Arg229Trp	NC_000017.10:g.46024047C>T	OMIM Allelic Variant:603287.0001	C1864723 610090 Pyridoxal 5'-phosphate-dependent epilepsy
NM_018129.3(PNPO):c.686G>A (p.Arg229Gln)	55163	PNPO	Pathogenic	773450573	RCV000208780; RCV000188500;	N	MedGen:C1864723,OMIM:610090,ORPHA:79096; MedGen:CN221809	17	46024048	46024048	NM_018129.3:c.686G>A	NP_060599.1:p.Arg229Gln	NC_000017.10:g.46024048G>A	OMIM Allelic Variant:603287.0006	CN221809 not provided; C1864723 610090 Pyridoxal 5'-phosphate-dependent epilepsy
NM_018129.3(PNPO):c.784T>C (p.Ter262Gln)	55163	PNPO	Pathogenic	104894631	RCV000006898;	N	MedGen:C1864723,OMIM:610090,ORPHA:79096	17	46024146	46024146	NM_018129.3:c.784T>C	NP_060599.1:p.Ter262Gln	NC_000017.10:g.46024146T>C	OMIM Allelic Variant:603287.0003	C1864723 610090 Pyridoxal 5'-phosphate-dependent epilepsy