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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: Chorea (D002819)
Parent Node: Metabolism, Inborn Errors (D008661)
Parent Node: Optic Atrophy (D009896)
Parent Node: Spastic Paraplegia, Hereditary (D015419)
..Starting node ..Costeff optic atrophy syndrome (C535311)
Child Nodes:
Sister Nodes:
..Amyotrophic Dystonic Paraplegia (C566292)
..Arena syndrome (C537428)
..Ataxia, Spastic, 1, Autosomal Dominant (C566993)
..Ataxia, Spastic, 2, Autosomal Recessive (C566969)
..Ataxia, Spastic, 3, Autosomal Recessive (C566956)
..Bahemuka Brown syndrome (C537797)
..Costeff optic atrophy syndrome (C535311)
..Fitzsimmons Walson Mellor syndrome (C537937)
..Fitzsimmons-Guilbert syndrome (C537938)
..Fitzsimmons-McLachlan-Gilbert syndrome (C537058)
..Hereditary spastic paralysis, infantile onset ascending (C537217)
..Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia (C567311)
..Limb Defects, Distal Transverse, with Mental Retardation and Spasticity (C565438)
..MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome (C536029)
..MAST Syndrome (C565409)
..Mental retardation spasticity ectrodactyly (C537446)
..Nakamura Osame syndrome (C538335)
..Roy Maroteaux Kremp syndrome (C535875)
..Spastic diplegia infantile type (C537481)
..Spastic paraplegia 10, autosomal dominant (C537482)
..Spastic paraplegia 11, autosomal recessive (C537483)
..Spastic paraplegia 12, autosomal dominant (C537484)
..Spastic paraplegia 13, autosomal dominant (C537485)
..Spastic paraplegia 14, autosomal recessive (C537486)
..Spastic paraplegia 15, autosomal recessive (C536642)
..Spastic paraplegia 16, X-linked (C536643)
..Spastic paraplegia 17 (C536644)
..Spastic Paraplegia 18, Autosomal Recessive (C567628)
..Spastic paraplegia 19, autosomal dominant (C536856)
..Spastic paraplegia 2, X-linked (C536857)
..Spastic paraplegia 20, autosomal recessive (C536858)
..Spastic paraplegia 23 (C536859)
..Spastic paraplegia 24 (C536860)
..Spastic paraplegia 25, autosomal recessive (C536861)
..Spastic paraplegia 26, autosomal recessive (C536862)
..Spastic Paraplegia 27, Autosomal Recessive (C563807)
..Spastic paraplegia 29, autosomal dominant (C536863)
..Spastic paraplegia 3, autosomal dominant (C536864)
..Spastic Paraplegia 31, Autosomal Dominant (C565210)
..Spastic Paraplegia 32, Autosomal Recessive (C566983)
..Spastic Paraplegia 33, Autosomal Dominant (C565214)
..Spastic Paraplegia 34, X-Linked (C567465)
..SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
..Spastic Paraplegia 36, Autosomal Dominant (C567930)
..Spastic Paraplegia 37, Autosomal Dominant (C567931)
..Spastic Paraplegia 38, Autosomal Dominant (C567349)
..Spastic Paraplegia 39, Autosomal Recessive (C567433)
..Spastic paraplegia 4, autosomal dominant (C536865)
..SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT (OMIM:613364)
..Spastic Paraplegia 42, Autosomal Dominant (C567262)
..Spastic Paraplegia 44, Autosomal Recessive (C567707)
..SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
..SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
..SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
..Spastic Paraplegia 5a, Autosomal Recessive (C564811)
..Spastic paraplegia 6, autosomal dominant (C536866)
..Spastic Paraplegia 7, Autosomal Recessive (C564599)
..Spastic paraplegia 8, autosomal dominant (C536867)
..Spastic paraplegia 9, autosomal dominant (C536868)
..Spastic Paraplegia And Evans Syndrome (C566652)
..Spastic paraplegia epilepsy mental retardation (C536869)
..Spastic paraplegia neuropathy poikiloderma (C536870)
..Spastic Paraplegia Type 11 (C580453)
..Spastic Paraplegia Type 3a (C580455)
..Spastic Paraplegia Type 4 (C580456)
..Spastic paraplegia type 5A, recessive (C536871)
..Spastic paraplegia type 5B, recessive (C536872)
..Spastic Paraplegia Type 7 (C580457)
..Spastic Paraplegia Type 8 (C580458)
..Spastic Paraplegia With Associated Extrapyramidal Signs (C566681)
..Spastic paraplegia with Kallmann syndrome (C536873)
..Spastic Paraplegia With Myoclonic Epilepsy (C564810)
..Spastic paraplegia with precocious puberty (C536874)
..Spastic Paraplegia, Optic Atrophy, And Dementia (C566679)
..Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
..Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy (C566682)
..Spastic Paraplegia-50, Autosomal Recessive (C567858)
..Volcke Soekarman syndrome (C537718)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2785

Name:

Costeff optic atrophy syndrome

Definition:

Alternative IDs:

OMIM:258501

ParentIDs:

MESH:D002819|MESH:D008661|MESH:D009896|MESH:D015419

TreeNumbers:

C10.228.662.262.249/C535311 |C10.292.700.225/C535311 |C10.500.300.820/C535311 |C10.574.500.495.820/C535311 |C10.597.350.250/C535311 |C10.668.829.800.300.820/C535311 |C11.640.451/C535311 |C16.131.666.300.820/C535311 |C16.320.400.375.820/C535311 |C16.320.565/C53531

Synonyms:

Slim Mappings:

Reference:

MedGen: C535311
MeSH: C535311
OMIM: 258501;

Genes: OPA3;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003535	3-Methylglutaconic aciduria
3	HP:0002071	Abnormality of extrapyramidal motor function
4	HP:0001251	Ataxia
5	HP:0003487	Babinski sign
6	HP:0002072	Chorea
7	HP:0100543	Cognitive impairment
8	HP:0001260	Dysarthria
9	HP:0001347	Hyperreflexia
10	HP:0000648	Optic atrophy
11	HP:0007663	Reduced visual acuity
12	HP:0001257	Spasticity
13	HP:0000505	Visual impairment

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_025136.3(OPA3):c.415C>T (p.Gln139Ter)	80207	OPA3	Pathogenic	28937899	RCV000020909;	N	MedGen:C0574084,OMIM:258501,ORPHA:67047,SNOMED CT:297232009	19	46056897	46056897	NM_025136.3:c.415C>T	NP_079412.1:p.Gln139Ter	NC_000019.9:g.46056897G>A	-	C0574084 258501 3-Methylglutaconic aciduria type 3
NM_025136.3(OPA3):c.320_337del18 (p.Gln108_Glu113del)	80207	OPA3	Pathogenic	80356526	RCV000004464;	N	MedGen:C0574084,OMIM:258501,ORPHA:67047,SNOMED CT:297232009	19	46056975	46056992	NM_025136.3:c.320_337del18	NP_079412.1:p.Gln108_Glu113del	NC_000019.9:g.46056975_46056992del18	OMIM Allelic Variant:606580.0004	C0574084 258501 3-Methylglutaconic aciduria type 3
NM_025136.3(OPA3):c.143-1G>C	80207	OPA3	Pathogenic	80356523	RCV000004461;	N	MedGen:C0574084,OMIM:258501,ORPHA:67047,SNOMED CT:297232009	19	46057170	46057170	NM_025136.3:c.143-1G>C		NC_000019.9:g.46057170C>G	OMIM Allelic Variant:606580.0001	C0574084 258501 3-Methylglutaconic aciduria type 3