Mohr–Tranebjærg syndrome

Mohr–Tranebjærg syndrome
Classification and external resources
OMIM	304700

Mohr–Tranebjærg syndrome (MTS) is a rare X-liked recessive syndrome also known as Deafness-dystonia syndrome and caused by mutation in the TIMM8A gene. It was first described in 1960.^[1] The severity of the symptoms may vary, but they progress usually to severe deafness and dystonia and sometimes are accompanied by cortical deterioration of vision and mental deterioration.

Alternative names

Deafness-dystonia-optic neuronopathy syndrome, DDS
Deafness-dystonia-optic atrophy syndrome, DDP
Deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency

References

↑ MOHR J, MAGEROY K (1960). "Sex-linked deafness of a possibly new type". Acta Genet Stat Med. 10: 54–62. PMID 13771732.

External links

The Deafness Dystonia Protein DDP and Mitochondrial Division — a free videolecture by Craig Blackstone touching on the genetics of the disorder, 2002.
GeneReviews/NCBI/NIH/UW entry on Deafness-Dystonia-Optic Neuronopathy Syndrome
MTS — a page at NIH website

Sex linkage: X-linked disorders

X-linked recessive

Immune	Chronic granulomatous disease (CYBB) Wiskott–Aldrich syndrome X-linked severe combined immunodeficiency X-linked agammaglobulinemia Hyper-IgM syndrome type 1 IPEX X-linked lymphoproliferative disease Properdin deficiency

Hematologic	Haemophilia A Haemophilia B X-linked sideroblastic anemia

Endocrine	Androgen insensitivity syndrome/Spinal and bulbar muscular atrophy KAL1 Kallmann syndrome X-linked adrenal hypoplasia congenita

Metabolic	Amino acid: Ornithine transcarbamylase deficiency Oculocerebrorenal syndrome Dyslipidemia: Adrenoleukodystrophy Carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency Pyruvate dehydrogenase deficiency Danon disease/glycogen storage disease Type IIb Lipid storage disorder: Fabry's disease Mucopolysaccharidosis: Hunter syndrome Purine-pyrimidine metabolism: Lesch–Nyhan syndrome Mineral: Menkes disease/Occipital horn syndrome

Nervous system	X-linked mental retardation: Coffin–Lowry syndrome MASA syndrome Alpha-thalassemia mental retardation syndrome Siderius X-linked mental retardation syndrome Eye disorders: Color blindness (red and green, but not blue) Ocular albinism (1) Norrie disease Choroideremia Other: Charcot–Marie–Tooth disease (CMTX2-3) Pelizaeus–Merzbacher disease SMAX2

Skin and related tissue	Dyskeratosis congenita Hypohidrotic ectodermal dysplasia (EDA) X-linked ichthyosis X-linked endothelial corneal dystrophy

Neuromuscular	Becker's muscular dystrophy/Duchenne Centronuclear myopathy (MTM1) Conradi–Hünermann syndrome Emery–Dreifuss muscular dystrophy 1

Urologic	Alport syndrome Dent's disease X-linked nephrogenic diabetes insipidus

Bone/tooth	AMELX Amelogenesis imperfecta

No primary system	Barth syndrome McLeod syndrome Smith–Fineman–Myers syndrome Simpson–Golabi–Behmel syndrome Mohr–Tranebjærg syndrome Nasodigitoacoustic syndrome

X-linked dominant

X-linked hypophosphatemia Focal dermal hypoplasia Fragile X syndrome Aicardi syndrome Incontinentia pigmenti Rett syndrome CHILD syndrome Lujan–Fryns syndrome Orofaciodigital syndrome 1 Craniofrontonasal dysplasia

Non-Mendelian inheritance: Mitochondrial diseases (277.87)

Carbohydrate metabolism	PCD PDHA

Primarily nervous system	LHON NARP Leigh's

Myopathies	Mitochondrial encephalomyopathy MELAS MERRF KSS PEO

No primary system	DAD MNGIE Pearson syndrome

Chromosomal	TIMM8A Mohr–Tranebjærg syndrome OPA1 Kjer's optic neuropathy

see also mitochondrial proteins

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Mohr–Tranebjærg syndrome

Alternative names

See also

References

External links