ORPHA:397744
MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Synonyms: Peripheral neuropathy-myopathy-hoarseness-deafness syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | Peripheral neuropathy-myopathy-hoarseness-deafness syndrome |
| fr | Syndrome de neuropathie périphérique-myopathie-raucité de la voix-surdité associée à MYH14 | |
| de | Periphere Neuropathie-Myopathie-Heiserkeit-Hörverlust-Syndrom, MYH14-assoziiertes | PNMHH · Periphere Neuropathie-Myopathie-Heiserkeit-Schwerhörigkeit-Syndrom |
| es | Síndrome de neuropatía periférica-miopatía-ronquera-hipoacusia asociado a MYH14 | Síndrome de neuropatía periférica-miopatía-ronquera-sordera |
| it | Sindrome neuropatia periferica-miopatia-raucedine-sordità correlata a MYH14 | Sindrome neuropatia periferica-miopatia-voce roca-sordità |
| nl | MYH14-gerelateerd perifere neuropathie - myopathie - heesheid - gehoorverlies-syndroom | Perifere neuropathie - myopathie - heesheid - doofheid-syndroom |
| pt | Síndrome de neuropatia periférica-miopatia-rouquidão-perda auditiva | |
| pl | Zespół neuropatii obwodowej - miopatii - chrypki - niedosłuchu związany z MYH14 | Zespół neuropatia obwodowa-miopatia-chrypka-głuchota |
| cs | Syndrom zahrnující periferní neuropatii, myopatii, chrapot a ztrátu sluchu | Syndrom zahrnující periferní neuropatii, myopatii, chrapot a hluchotu |
| uk | Синдром периферичної нейропатії-міопатії-охриплості-втрати слуху | Синдром периферичної нейропатії-міопатії-огрубілості-глухоти |
| zh | 周围神经病变-肌病-声音嘶哑-听力障碍综合征 | 周围神经病-疾病-声音嘶哑-耳聋综合征 |
| tr | Periferik nöropati-miyopati-ses kısıklığı-işitme kaybı sendromu | Periferik nöropati-miyopati-ses kısıklığı-sağırlık sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614369 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| MONDO | 0013711 | E | validated | |
| UMLS | C5190594 | 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 (3):
- ORPHA:140465Autosomal dominant distal hereditary motor neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:206650Autosomal dominant distal myopathy
rare genetic diseases; rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYH14 | Disease-causing germline mutation(s) in | Assessed | HGNC:23212 | ENSG00000105357 | 608568 | 19q13.33 | myosin heavy chain 14 | 21480433[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 21480433[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21480433[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
21 annotations · validated 2019-01-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0008619 | Bilateral sensorineural hearing impairment | Diagnostic criterion |
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0012548 | Fatty replacement of skeletal muscle | |
| HP:0001609 | Hoarse voice | Diagnostic criterion |
| HP:0001265 | Hyporeflexia | |
| HP:0003557 | Increased variability in muscle fiber diameter | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0008180 | Mildly elevated creatine kinase | |
| HP:0030774 | Mitochondrial swelling | |
| HP:0003198 | Myopathy | Diagnostic criterion |
| HP:0009830 | Peripheral neuropathy | Diagnostic criterion |
| HP:0009063 | Progressive distal muscle weakness | |
| HP:0010219 | Structural foot deformity | |
| Occasional (29-5%) | ||
| HP:0001284 | Areflexia | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0001337 | Tremor | |
| Very rare (<4-1%) | ||
| HP:0001369 | Arthritis | |
| HP:0001250 | Seizure | |
| Excluded (0%) | ||
| HP:0002015 | Dysphagia | |
| HP:0001605 | Vocal cord paralysis | |
Annotation source: 21480433[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/397744
- This record as JSON: /data/d/397744.json