Mohr–Tranebjærg syndrome

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.

Contents

1 Alternative names

2 See also

3 References

4 External links

Alternative names

Deafness-dystonia-optic neuronopathy syndrome, DDS

Deafness-dystonia-optic atrophy syndrome, DDP

Deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency

See also

Mitochondrial disorders

TIMM13 and TIMM8A

Dystonia

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

v · d · eSex 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/Kennedy disease · 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 · X-linked 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

v · d · eNon-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-Tranebjaerg syndrome) · OPA1 (Kjer's optic neuropathy)

see also mitochondrial proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk

Categories:
Disease stubs
Extrapyramidal and movement disorders

Mohr–Tranebjærg syndrome
Classification and external resources
OMIM	304700

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Look at other dictionaries:

Syndrome de mohr-tranebjaerg — Autre nom Syndrome surdité dystonie neuropathie optique Référence MIM … Wikipédia en Français
Syndrome de Mohr-Tranebjaerg — Référence MIM 304700 Transmission Récessive liée à l X Chromosome Xq22 Gène TIMM8A Empreinte parentale Non … Wikipédia en Français
Orofaciodigital syndrome 1 — Classification and external resources OMIM 311200 DiseasesDB 29898 MeSH … Wikipedia
Androgen insensitivity syndrome — Classification and external resources AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. ICD 10 E … Wikipedia
Fragile X syndrome — Classification and external resources Location of FMR1 gene ICD 10 Q99.2 … Wikipedia
Rett syndrome — Classification and external resources ICD 10 F84.2 ICD 9 330.8 … Wikipedia
Hunter syndrome — Classification and external resources ICD 10 E76.1 ICD 9 277.5 … Wikipedia
Lesch–Nyhan syndrome — Lesch Nyhan syndrome Classification and external resources ICD 10 E79.1 ICD 9 277.2 … Wikipedia
Complete androgen insensitivity syndrome — Classification and external resources AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. ICD 10 … Wikipedia
Lujan-Fryns syndrome — Lujan–Fryns syndrome Classification and external resources Lujan–Fryns syndrome in a young adult male, with features that include a long, narrow face and recessed chin. ICD 10 F … Wikipedia

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Mohr–Tranebjærg syndrome

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Mohr–Tranebjærg syndrome

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Alternative names

See also

References

External links

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