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Hello! Guest! Please Login or Register! Clinician Mode

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

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: Deaf-Blind Disorders (D054062)
Parent Node: Dystonia (D004421)
Parent Node: Intellectual Disability (D008607)
Parent Node: Optic Atrophy (D009896)
..Starting node ..Mohr-Tranebjaerg syndrome (C535808)
Child Nodes:
Sister Nodes:
..Al Gazali Khidr Prem Chandran syndrome (C535616)
..Al Gazali Sabrinathan Nair syndrome (C535617)
..Behr syndrome (C537669)
..CAPOS syndrome (C535351)
..Costeff optic atrophy syndrome (C535311)
..Jensen syndrome (C537568)
..Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature (C563810)
..Mohr-Tranebjaerg syndrome (C535808)
..Optic Atrophies, Hereditary (D015418) 30
..OPTIC ATROPHY 2 (OMIM:311050)
..Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant (C563497)
..Optic atrophy, X-linked (C537125)
..PEHO syndrome (C536317)
..Silengo Lerone Pelizza syndrome (C537336)
..Spastic Ataxia (C564815)
..Spastic Paraplegia, Optic Atrophy, and Neuropathy (C563702)
..Treft Sanborn Carey syndrome (C536544)
..Warburg Sjo Fledelius syndrome (C536681)
..Wolfram Syndrome 2 (C565733)
..X-linked mental retardation Gustavson type (C536759)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7356

Name:

Mohr-Tranebjaerg syndrome

Definition:

Alternative IDs:

OMIM:304700

ParentIDs:

MESH:D004421|MESH:D008607|MESH:D009896|MESH:D054062

TreeNumbers:

C09.218.458.341.186.500/C535808 |C10.292.700.225/C535808 |C10.597.350.300/C535808 |C10.597.606.643/C535808 |C10.597.751.418.341.186.500/C535808 |C10.597.751.941.162.625/C535808 |C11.640.451/C535808 |C11.966.075.375/C535808 |C16.131.077.299/C535808 |C23.888.592.35

Synonyms:

Slim Mappings:

Reference:

MedGen: C535808
MeSH: C535808
OMIM: 304700;

Genes: TIMM8A;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0011463	Childhood onset
3	HP:0000512	Abnormal electroretinogram
4	HP:0002533	Abnormal posturing
5	HP:0100704	Cerebral visual impairment
6	HP:0001133	Constriction of peripheral visual field
7	HP:0001260	Dysarthria
8	HP:0002015	Dysphagia
9	HP:0001332	Dystonia
10	HP:0001347	Hyperreflexia
11	HP:0002659	Increased susceptibility to fractures
12	HP:0001268	Mental deterioration
13	HP:0000545	Myopia
14	HP:0000613	Photophobia
15	HP:0008596	Postlingual sensorineural hearing impairment
16	HP:0000408	Progressive sensorineural hearing impairment
17	HP:0007663	Reduced visual acuity
18	HP:0001257	Spasticity
19	HP:0001337	Tremor
20	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_004085.3(TIMM8A):c.502_504dupTGA	1678	TIMM8A	Benign	4024308	RCV000020580;	N	MedGen:C0796074,OMIM:304700,ORPHA:52368	X	100600983	100600985	NM_004085.3:c.502_504dupTGA		NC_000023.10:g.100600983_100600985dupTCA	-	C0796074 304700 Mohr-Tranebjaerg syndrome
NM_004085.3(TIMM8A):c.238C>T (p.Arg80Ter)	1678	TIMM8A	Pathogenic	1054894	RCV000012076;	N	MedGen:C0796074,OMIM:304700,ORPHA:52368	X	100601543	100601543	NM_004085.3:c.238C>T	NP_004076.1:p.Arg80Ter	NC_000023.10:g.100601543G>A	OMIM Allelic Variant:300356.0007	C0796074 304700 Mohr-Tranebjaerg syndrome
NM_004085.3(TIMM8A):c.198C>G (p.Cys66Trp)	1678	TIMM8A	Pathogenic	80356560	RCV000012073;	N	MedGen:C0796074,OMIM:304700,ORPHA:52368	X	100601583	100601583	NM_004085.3:c.198C>G	NP_004076.1:p.Cys66Trp	NC_000023.10:g.100601583G>C	OMIM Allelic Variant:300356.0004	C0796074 304700 Mohr-Tranebjaerg syndrome
NM_004085.3(TIMM8A):c.148_157delAAGCCTGGGC (p.Lys50Glnfs)	1678	TIMM8A	Pathogenic	869320733	RCV000012071;	N	MedGen:C0796074,OMIM:304700,ORPHA:52368	X	100601624	100601633	NM_004085.3:c.148_157delAAGCCTGGGC	NP_004076.1:p.Lys50Glnfs	NC_000023.10:g.100601624_100601633delGCCCAGGCTT	OMIM Allelic Variant:300356.0002	C0796074 304700 Mohr-Tranebjaerg syndrome
NM_004085.3(TIMM8A):c.133-23A>C	1678	TIMM8A	Pathogenic	869320666	RCV000012077;	N	MedGen:C0796074,OMIM:304700,ORPHA:52368	X	100601671	100601671	NM_004085.3:c.133-23A>C		NC_000023.10:g.100601671T>G	OMIM Allelic Variant:300356.0008	C0796074 304700 Mohr-Tranebjaerg syndrome
NM_004085.3(TIMM8A):c.127delT (p.Cys43Valfs)	1678	TIMM8A	Pathogenic	869320667	RCV000012078;	N	MedGen:C0796074,OMIM:304700,ORPHA:52368	X	100603526	100603526	NM_004085.3:c.127delT	NP_004076.1:p.Cys43Valfs	NC_000023.10:g.100603526delA	OMIM Allelic Variant:300356.0009	C0796074 304700 Mohr-Tranebjaerg syndrome
NM_004085.3(TIMM8A):c.116delT (p.Met39Argfs)	1678	TIMM8A	Pathogenic	869320664	RCV000012070;	N	MedGen:C0796074,OMIM:304700,ORPHA:52368	X	100603537	100603537	NM_004085.3:c.116delT	NP_004076.1:p.Met39Argfs	NC_000023.10:g.100603537delA	OMIM Allelic Variant:300356.0001	C0796074 304700 Mohr-Tranebjaerg syndrome
NM_004085.3(TIMM8A):c.112C>T (p.Gln38Ter)	1678	TIMM8A	Pathogenic	80356559	RCV000020579;	N	MedGen:C0796074,OMIM:304700,ORPHA:52368	X	100603541	100603541	NM_004085.3:c.112C>T	NP_004076.1:p.Gln38Ter	NC_000023.10:g.100603541G>A	-	C0796074 304700 Mohr-Tranebjaerg syndrome
NM_004085.3(TIMM8A):c.73delG (p.Val25Terfs)	1678	TIMM8A	Pathogenic	869320665	RCV000012074;	N	MedGen:C0796074,OMIM:304700,ORPHA:52368	X	100603580	100603580	NM_004085.3:c.73delG	NP_004076.1:p.Val25Terfs	NC_000023.10:g.100603580delC	OMIM Allelic Variant:300356.0005	C0796074 304700 Mohr-Tranebjaerg syndrome
NM_004085.3(TIMM8A):c.70G>T (p.Glu24Ter)	1678	TIMM8A	Pathogenic	111033631	RCV000012072;	N	MedGen:C0796074,OMIM:304700,ORPHA:52368	X	100603583	100603583	NM_004085.3:c.70G>T	NP_004076.1:p.Glu24Ter	NC_000023.10:g.100603583C>A	OMIM Allelic Variant:300356.0003	C0796074 304700 Mohr-Tranebjaerg syndrome