ORPHA:52368
Mohr-Tranebjaerg syndrome
Synonyms: Hearing loss-dystonia-optic neuronopathy syndrome · DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- active
A rare X-linked syndromic intellectual disability characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mohr-Tranebjaerg syndrome | Hearing loss-dystonia-optic neuronopathy syndrome · DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome |
| fr | Syndrome de Mohr-Tranebjaerg | Syndrome DDON · Syndrome de surdité-dystonie-neuronopathie optique |
| de | Mohr-Tranebjaerg-Syndrom | Taubheit - Dystonie - Optikusatrophie |
| es | Síndrome de Mohr-Tranebjaerg | Síndrome DDON · Síndrome de hipoacusia-distonía-neuronopatía óptica · Síndrome de sordera-distonía-neuronopatía óptica |
| it | Sindrome di Mohr-Tranebjaerg | Sindrome DDON · Sindrome sordità-distonia-neuropatia ottica |
| nl | Syndroom van Mohr-Tranebjaerg | DDON-syndroom · Doofheid - dystonie - optische neuronopathie-syndroom · Gehoorverlies - dystonie - optische neuronopathie-syndroom |
| pt | Síndrome Mohr-Tranebjaerg | |
| pl | Zespół Mohra i Tranebjaerga | Zespół DDON · Zespół głuchota- dystonia - neuropatia nerwu wzrokowego |
| cs | Mohrův-Tranabjaergové syndrom | DDON syndrom · Syndrom zahrnující hluchotu, dystonii a optickou neuropatii · Mohr-Tranabjaergové syndrom |
| uk | Синдром Мора-Транебєрга | Синдром DDON · Синдром глухоти-дистонії-нейропатії зорового нерва · Синдром туговухості-дистонії-нейропатії зорового нерва |
| zh | 耳聋肌张力障碍综合征 | 听力丧失-肌张力障碍-视神经病综合征 |
| tr | Mohr-Tranebjaerg sendromu | DDON sendromu · Sağırlık-distoni-optik nöronopati sendromu · İşitme kaybı-distoni-optik nöronopati sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 304700 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 8A02.12 | NTBT | index | validated |
| MONDO | 0010578 | E | validated | |
| MONDO | 10578 | E | validated | |
| MeSH | C535808 | E | validated | |
| UMLS | C0796074 | E | validated | |
| GARD | 8331 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:254834Mitochondrial protein import disorder
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:3213Deafness-opticoacoustic nerve atrophy-dementia syndrome moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TIMM8A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11817 | ENSG00000126953 | 300356 | Xq22.1 | translocase of inner mitochondrial membrane 8A | 20301395[PMID]_11956200[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 91 cases | Worldwide | Case(s) | Validated | 20301395[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20301395[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
41 annotations · validated 2019-04-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000375 | Abnormal cochlea morphology | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0001751 | Abnormal vestibular function | |
| HP:0007377 | Abnormality of somatosensory evoked potentials | |
| HP:0000649 | Abnormality of visual evoked potentials | |
| HP:0004463 | Absent brainstem auditory responses | |
| HP:0011448 | Ankle clonus | |
| HP:0000708 | Atypical behavior | |
| HP:0003487 | Babinski sign | |
| HP:0001332 | Dystonia | |
| HP:0007325 | Generalized dystonia | |
| HP:0002283 | Global brain atrophy | |
| HP:0006801 | Hyperactive deep tendon reflexes | |
| HP:0001268 | Mental deterioration | |
| HP:0000648 | Optic atrophy | |
| HP:0012048 | Oromandibular dystonia | |
| HP:0008596 | Postlingual sensorineural hearing impairment | |
| HP:0000399 | Prelingual sensorineural hearing impairment | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0004432 | Agammaglobulinemia | |
| HP:0002186 | Apraxia | |
| HP:0011951 | Aspiration pneumonia | |
| HP:0002340 | Caudate atrophy | |
| HP:0000603 | Central scotoma | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0000551 | Color vision defect | |
| HP:0000726 | Dementia | |
| HP:0002015 | Dysphagia | |
| HP:0004373 | Focal dystonia | |
| HP:0002540 | Inability to walk | |
| HP:0011999 | Paranoia | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0000751 | Personality changes | |
| HP:0000613 | Photophobia | |
| HP:0002172 | Postural instability | |
| HP:0000763 | Sensory neuropathy | |
| HP:0002362 | Shuffling gait | |
| HP:0001337 | Tremor | |
| HP:0000572 | Visual loss | |
| Very rare (<4-1%) | ||
| HP:0007018 | Attention deficit hyperactivity disorder | |
Annotation source: 20301395[PMID]_22736418[PMID]_30634948[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/52368
- This record as JSON: /data/d/52368.json