ORPHA:98897
Oculopharyngodistal myopathy
Synonyms: OPDM · Oculopharyngeal distal myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare, genetic neuromuscular disease characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. Respiratory muscle involvement is common, but sensorineural hearing loss, asymmetrical extremity weakness and severe proximal weakness are rare.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculopharyngodistal myopathy | OPDM · Oculopharyngeal distal myopathy |
| fr | Myopathie oculo-pharyngo-distale | Myopathie oculo-pharyngée distale · OPDM |
| de | Myopathie, okulo-pharyngo-distale | OPDM |
| es | Miopatía oculofaringodistal | Miopatía oculofaringea distal · OPDM |
| it | Miopatia oculo-faringo-distale | Miopatia oculo-faringea distale · OPDM |
| nl | Oculofaryngodistale myopathie | OPDM · Oculofaryngeale distale myopathie |
| pt | Miopatia oculofaringodistal | |
| pl | Miopatia oczno-gardłowo-dystalna | Miopatia oczno-gardłowa dystalna · OPDM |
| cs | Distální okulofaryngeální myopatie | OPDM · Okulofaryngeální distální myopatie |
| uk | Окулофарингодистальна міопатія | Дистальна міопатія окологлоткового відділу · OPDM |
| zh | 眼咽远端型肌病 | 眼咽型远端肌病 |
| tr | Okülofaringodistal miyopati | OPDM · Okülofarengeal distal miyopati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 164310 | BTNT | validated | |
| OMIM | 618637 | BTNT | validated | |
| OMIM | 618940 | BTNT | validated | |
| OMIM | 619473 | BTNT | validated | |
| OMIM | 619790 | BTNT | validated | |
| OMIM | 621446 | BTNT | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 9C82.1 | NTBT | index | validated |
| MONDO | 0025193 | E | validated | |
| MeSH | C563508 | E | validated | |
| UMLS | C1834014 | E | validated | |
| GARD | 12592 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:206650Autosomal dominant distal myopathy
rare genetic diseases; rare neurological diseases - ORPHA:206644Progressive muscular dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:522522Rare genetic neuromuscular disorder with ocular motility/alignment anomaly
rare genetic diseases - ORPHA:519347Rare neuromuscular disorder with ocular motility/alignment anomaly
rare ophthalmic disorders
No children.
4
Genes
6 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ABCD3 | Disease-causing germline mutation(s) in | Assessed | HGNC:67 | ENSG00000117528 | 170995 | 1p21.3 | ATP binding cassette subfamily D member 3 | 39068203[PMID] |
| GIPC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:1226 | ENSG00000123159 | 605072 | 19p13.12 | GIPC PDZ domain containing family member 1 | 33374016[PMID] |
| LRP12 | Disease-causing germline mutation(s) in | Assessed | HGNC:31708 | ENSG00000147650 | 618299 | 8q22.3 | LDL receptor related protein 12 | 31332380[PMID] |
| NOTCH2NLC | Disease-causing germline mutation(s) in | Assessed | HGNC:53924 | ENSG00000286219 | 618025 | 1q21.2 | notch 2 N-terminal like C | 33693509[PMID] |
| NUTM2B-AS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:51204 | ENSG00000225484 | 618639 | 10q22.3 | NUTM2B antisense RNA 1 | 37923380[PMID] |
| RILPL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:26814 | ENSG00000188026 | 614092 | 12q24.31 | Rab interacting lysosomal protein like 1 | 35700120[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
36 annotations · validated 2019-01-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000301 | Abnormality of facial musculature | |
| HP:0008376 | Nasal, dysarthic speech | |
| HP:0000597 | Ophthalmoparesis | |
| HP:0000590 | Progressive external ophthalmoplegia | |
| HP:0007838 | Progressive ptosis | |
| HP:0030319 | Weakness of facial musculature | |
| HP:0001824 | Weight loss | |
| Frequent (79-30%) | ||
| HP:0430015 | Abnormal morphology of musculature of pharynx | |
| HP:0008756 | Bowing of the vocal cords | |
| HP:0008944 | Distal lower limb amyotrophy | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0007149 | Distal upper limb amyotrophy | |
| HP:0000218 | High palate | |
| HP:0002705 | High, narrow palate | |
| HP:0031162 | Impaired oropharyngeal swallow response | |
| HP:0002058 | Myopathic facies | |
| HP:0200136 | Oral-pharyngeal dysphagia | |
| HP:0009063 | Progressive distal muscle weakness | |
| HP:0002100 | Recurrent aspiration pneumonia | |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
| HP:0000183 | Tongue muscle weakness | |
| HP:0001604 | Vocal cord paresis | |
| Occasional (29-5%) | ||
| HP:3000005 | Abnormality of masseter muscle | |
| HP:0001284 | Areflexia | |
| HP:0008959 | Distal upper limb muscle weakness | |
| HP:0030192 | Fatigable weakness of bulbar muscles | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0001288 | Gait disturbance | |
| HP:0002505 | Loss of ambulation | |
| HP:0009073 | Progressive proximal muscle weakness | |
| HP:0000408 | Progressive sensorineural hearing impairment | |
| HP:0002091 | Restrictive ventilatory defect | |
| HP:0008963 | Tibialis muscle weakness | |
| Very rare (<4-1%) | ||
| HP:3000010 | Abnormality of orbicularis oris muscle | |
| HP:0010550 | Paraplegia | |
| HP:0008997 | Proximal muscle weakness in upper limbs | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 164310[PMID]_836191[PMID]_9608566[PMID]_15377709[PMID]_21242490[PMID]_26039504[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98897
- This record as JSON: /data/d/98897.json