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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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Disease Browser
Parent Node: Epilepsy (D004827)
..Starting node ..Pyridoxine-dependent epilepsy (C536254)
Child Nodes:
Sister Nodes:
..AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency (C563876)
..Alopecia epilepsy oligophrenia syndrome of Moynahan (C537052)
..Alopecia, epilepsy, pyorrhea, mental subnormality (C537057)
..Amish Infantile Epilepsy Syndrome (C563799)
..Arthrogryposis epileptic seizures migrational brain disorder (C537442)
..Battaglia Neri syndrome (C537662)
..BETA-AMINO ACIDS, RENAL TRANSPORT OF (OMIM:109660)
..Borjeson-Forssman-Lehmann syndrome (C536575)
..Boudhina Yedes Khiari syndrome (C537939)
..CHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB (OMIM:613729)
..Coffin syndrome 1 (C536435)
..Developmental Delay, Epilepsy, and Neonatal Diabetes (C565253)
..Epilepsies, Myoclonic (D004831) 26
..Epilepsies, Partial (D004828) 26
..Epilepsy occipital calcifications (C535496)
..Epilepsy telangiectasia (C535497)
..Epilepsy, Benign Neonatal (D020936) 13
..Epilepsy, Benign Neonatal, 1, And/Or Myokymia (C567743)
..Epilepsy, Female-Restricted, with Mental Retardation (C564715)
..Epilepsy, Generalized (D004829) 27
..EPILEPSY, HOT WATER, 1 (OMIM:613339)
..EPILEPSY, HOT WATER, 2 (OMIM:613340)
..Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation (C565587)
..Epilepsy, Post-Traumatic (D004834)
..Epilepsy, Reflex (D020195)
..Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders (C564505)
..Fryns-Aftimos Syndrome (C565258)
..Gurrieri Sammito Bellussi syndrome (C537625)
..HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT (OMIM:300049)
..Hyperekplexia and Epilepsy (C564474)
..Kifafa seizure disorder (C537708)
..Kohlschutter Tonz syndrome (C537213)
..Kuzniecky syndrome (C538091)
..Landau-Kleffner Syndrome (D018887)
..Lennox Gastaut Syndrome (D065768) 1
..MEHMO syndrome (C537451)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
..Mental Retardation, Microcephaly, Epilepsy, And Coarse Face (C563342)
..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..Mental Retardation, X-Linked, with Epilepsy (C564516)
..Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)
..Pyridoxine-dependent epilepsy (C536254)
..Ramon Syndrome (C535285)
..Retinal Degeneration and Epilepsy (C564847)
..Rud Syndrome (C535878)
..Sandhaus Ben-Ami syndrome (C537233)
..Seizures (D012640) 40
..Seizures, Febrile (D003294) 21
..Spinocerebellar Ataxia with Epilepsy (C564395)
..Status Epilepticus (D013226) 1
..Wittwer syndrome (C536737)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9542

Name:

Pyridoxine-dependent epilepsy

Definition:

Alternative IDs:

OMIM:266100

ParentIDs:

MESH:D004827

TreeNumbers:

C10.228.140.490/C536254

Synonyms:

Slim Mappings:

Nervous system disease

Reference:

MedGen: C536254
MeSH: C536254
OMIM: 266100;

Genes: ALDH7A1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001939	Abnormality of metabolism/homeostasis
3	HP:0002069	Bilateral tonic-clonic seizure
4	HP:0000750	Delayed speech and language development
5	HP:0025116	Fetal distress
6	HP:0001290	Generalized hypotonia
7	HP:0002123	Generalized myoclonic seizure
8	HP:0001263	Global developmental delay
9	HP:0001252	Hypotonia
10	HP:0001249	Intellectual disability
11	HP:0002643	Neonatal respiratory distress
12	HP:0001557	Prenatal movement abnormality
13	HP:0002098	Respiratory distress
14	HP:0002133	Status epilepticus

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_001182.4(ALDH7A1):c.1597delG (p.Ala533Profs)	501	ALDH7A1	Pathogenic	387906574	RCV000019615;	N	MedGen:C1849508,OMIM:266100,ORPHA:3006	5	125880680	125880680	NM_001182.4:c.1597delG	NP_001173.2:p.Ala533Profs	NC_000005.9:g.125880680delC	OMIM Allelic Variant:107323.0006	C1849508 266100 Pyridoxine-dependent epilepsy
NM_001182.4(ALDH7A1):c.1279G>C (p.Glu427Gln)	501	ALDH7A1	Likely pathogenic;Pathogenic	121912707	RCV000019610; RCV000186744;	N	MedGen:C1849508,OMIM:266100,ORPHA:3006; MedGen:CN221809	5	125887751	125887751	NM_001182.4:c.1279G>C	NP_001173.2:p.Glu427Gln	NC_000005.9:g.125887751C>G	OMIM Allelic Variant:107323.0001	CN221809 not provided; C1849508 266100 Pyridoxine-dependent epilepsy
NM_001182.4(ALDH7A1):c.1224T>G (p.Tyr408Ter)	501	ALDH7A1	Pathogenic	121912710	RCV000019616;	N	MedGen:C1849508,OMIM:266100,ORPHA:3006	5	125887806	125887806	NM_001182.4:c.1224T>G	NP_001173.2:p.Tyr408Ter	NC_000005.9:g.125887806A>C	OMIM Allelic Variant:107323.0007	C1849508 266100 Pyridoxine-dependent epilepsy
NM_001182.4(ALDH7A1):c.1193G>T (p.Gly398Val)	501	ALDH7A1	Likely pathogenic	864622557	RCV000205037;	N	MedGen:C1849508,OMIM:266100,ORPHA:3006	5	125889986	125889986	NM_001182.4:c.1193G>T	NP_001173.2:p.Gly398Val	NC_000005.9:g.125889986C>A	-	C1849508 266100 Pyridoxine-dependent epilepsy
NM_001182.4(ALDH7A1):c.1093+1G>A	501	ALDH7A1	Pathogenic	794727058	RCV000174294;	N	MedGen:C1849508,OMIM:266100,ORPHA:3006	5	125891622	125891622	NM_001182.4:c.1093+1G>A		NC_000005.9:g.125891622C>T	-	C1849508 266100 Pyridoxine-dependent epilepsy
NM_001182.4(ALDH7A1):c.986G>A (p.Arg329Lys)	501	ALDH7A1	Likely pathogenic	864622558	RCV000206370;	N	MedGen:C1849508,OMIM:266100,ORPHA:3006	5	125894954	125894954	NM_001182.4:c.986G>A	NP_001173.2:p.Arg329Lys	NC_000005.9:g.125894954C>T	-	C1849508 266100 Pyridoxine-dependent epilepsy
NM_001182.4(ALDH7A1):c.902A>T (p.Asn301Ile)	501	ALDH7A1	Pathogenic	121912711	RCV000019617;	N	MedGen:C1849508,OMIM:266100,ORPHA:3006	5	125896786	125896786	NM_001182.4:c.902A>T	NP_001173.2:p.Asn301Ile	NC_000005.9:g.125896786T>A	OMIM Allelic Variant:107323.0008	C1849508 266100 Pyridoxine-dependent epilepsy
NM_001182.4(ALDH7A1):c.596C>T (p.Ala199Val)	501	ALDH7A1	Pathogenic	121912709	RCV000019614;	N	MedGen:C1849508,OMIM:266100,ORPHA:3006	5	125912825	125912825	NM_001182.4:c.596C>T	NP_001173.2:p.Ala199Val	NC_000005.9:g.125912825G>A	OMIM Allelic Variant:107323.0005	C1849508 266100 Pyridoxine-dependent epilepsy
NM_001182.4(ALDH7A1):c.584A>G (p.Asn195Ser)	501	ALDH7A1	Pathogenic	372660425	RCV000206803;	N	MedGen:C1849508,OMIM:266100,ORPHA:3006	5	125912837	125912837	NM_001182.4:c.584A>G	NP_001173.2:p.Asn195Ser	NC_000005.9:g.125912837T>C	-	C1849508 266100 Pyridoxine-dependent epilepsy
NM_001182.4(ALDH7A1):c.373A>G (p.Ile125Val)	501	ALDH7A1	Benign;Likely benign	117295656	RCV000204650; RCV000116312;	N	MedGen:C1849508,OMIM:266100,ORPHA:3006; MedGen:CN169374	5	125919644	125919644	NM_001182.4:c.373A>G	NP_001173.2:p.Ile125Val	NC_000005.9:g.125919644T>C	-	CN169374 not specified; C1849508 266100 Pyridoxine-dependent epilepsy
NM_001182.4(ALDH7A1):c.328C>T (p.Arg110Ter)	501	ALDH7A1	Pathogenic	121912708	RCV000019611;	N	MedGen:C1849508,OMIM:266100,ORPHA:3006	5	125919689	125919689	NM_001182.4:c.328C>T	NP_001173.2:p.Arg110Ter	NC_000005.9:g.125919689G>A	OMIM Allelic Variant:107323.0002	C1849508 266100 Pyridoxine-dependent epilepsy