ORPHA:2020
Congenital fiber-type disproportion myopathy
Synonyms: CFTDM
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic, congenital, non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital fiber-type disproportion myopathy | CFTDM |
| fr | Myopathie congénitale avec disproportion des types de fibres musculaires | |
| de | Myopathie, kongenitale, mit Fasertyp-Disproportion | = en |
| es | Miopatía congénita por desproporción del tipo de fibra | = en |
| it | Miopatia con sproporzione congenita delle fibre | |
| nl | Congenitale myopathie met vezeltype-disproportie | = en |
| pt | Miopatia por desproporção de fibras congénita | |
| pl | Miopatia pod postacią wrodzonej dysproporcji rodzajów włókien | = en |
| cs | Vrozené strukturální myopatie | = en |
| uk | Вроджена міопатія з диспропорцією волокон | = en |
| zh | 先天性肌型比例失调肌病 | = en |
| tr | Doğumsal fibril-tip orantısızlık miyopatisi | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 255310 | BTNT | validated | |
| OMIM | 300580 | BTNT | validated | |
| OMIM | 617760 | BTNT | validated | |
| OMIM | 619967 | BTNT | validated | |
| ICD-10 | G71.2 | NTBT | inclusion | validated |
| ICD-11 | 8C72.1 | NTBT | index | validated |
| MONDO | 0009711 | E | validated | |
| UMLS | C0546264 | E | validated | |
| GARD | 6161 | 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 (4):
- ORPHA:97245Congenital myopathy
rare genetic diseases; rare neurological diseases - ORPHA:209059Qualitative or quantitative defects of alpha-actin
rare genetic diseases - ORPHA:209193Qualitative or quantitative defects of selenoprotein N1
rare genetic diseases - ORPHA:284790Qualitative or quantitative defects of tropomyosin
rare genetic diseases
No children.
4
Genes
8 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HACD1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9639 | ENSG00000165996 | 610467 | 10p12.33 | 3-hydroxyacyl-CoA dehydratase 1 | 23933735[PMID] |
| ACTA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:129 | ENSG00000143632 | 102610 | 1q42.13 | actin alpha 1, skeletal muscle | 20301436[PMID] |
| ITGA7 | Disease-causing germline mutation(s) in | Assessed | HGNC:6143 | ENSG00000135424 | 600536 | 12q13.2 | integrin subunit alpha 7 | 23800289[PMID] |
| MAP3K20 | Disease-causing germline mutation(s) in | Assessed | HGNC:17797 | ENSG00000091436 | 609479 | 2q31.1 | mitogen-activated protein kinase kinase kinase 20 | 27816943[PMID] |
| MYL2 | Disease-causing germline mutation(s) in | Assessed | HGNC:7583 | ENSG00000111245 | 160781 | 12q24.11 | myosin light chain 2 | 23365102[PMID] |
| SELENON | Disease-causing germline mutation(s) in | Assessed | HGNC:15999 | ENSG00000162430 | 606210 | 1p36.11 | selenoprotein N | 20301436[PMID] |
| TPM2 | Disease-causing germline mutation(s) in | Assessed | HGNC:12011 | ENSG00000198467 | 190990 | 9p13.3 | tropomyosin 2 | 22832343[PMID] |
| TPM3 | Disease-causing germline mutation(s) in | Assessed | HGNC:12012 | ENSG00000143549 | 191030 | 1q21.3 | tropomyosin 3 | 20301436[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_[EXPERT] |
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
59 annotations · validated 2021-04-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001252 | Hypotonia | |
| HP:0003323 | Progressive muscle weakness | |
| HP:0011807 | Type 1 muscle fiber atrophy | |
| Frequent (79-30%) | ||
| HP:0011842 | Abnormality of skeletal morphology | |
| HP:0002086 | Abnormality of the respiratory system | |
| HP:0001284 | Areflexia | |
| HP:0000678 | Dental crowding | |
| HP:0002015 | Dysphagia | |
| HP:0003388 | Easy fatigability | |
| HP:0001508 | Failure to thrive | |
| HP:0030192 | Fatigable weakness of bulbar muscles | |
| HP:0012378 | Fatigue | |
| HP:0011968 | Feeding difficulties | |
| HP:0001371 | Flexion contracture | |
| HP:0000218 | High palate | |
| HP:0001270 | Motor delay | |
| HP:0002058 | Myopathic facies | |
| HP:0004396 | Poor appetite | |
| HP:0002421 | Poor head control | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
| HP:0030319 | Weakness of facial musculature | |
| HP:0004347 | Weakness of muscles of respiration | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0006466 | Ankle flexion contracture | |
| HP:0011951 | Aspiration pneumonia | |
| HP:0001374 | Congenital hip dislocation | |
| HP:0001648 | Cor pulmonale | |
| HP:0001558 | Decreased fetal movement | |
| HP:0002987 | Elbow flexion contracture | |
| HP:0012785 | Flexion contracture of finger | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0003324 | Generalized muscle weakness | |
| HP:0002315 | Headache | |
| HP:0003273 | Hip contracture | |
| HP:0001609 | Hoarse voice | |
| HP:0012416 | Hypercapnia | |
| HP:0003307 | Hyperlordosis | |
| HP:0009004 | Hypoplasia of the musculature | |
| HP:0012418 | Hypoxemia | |
| HP:0005216 | Impaired mastication | |
| HP:0004878 | Intercostal muscle weakness | |
| HP:0006380 | Knee flexion contracture | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0000276 | Long face | |
| HP:0000347 | Micrognathia | |
| HP:0011470 | Nasogastric tube feeding in infancy | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0000767 | Pectus excavatum | |
| HP:0003749 | Pelvic girdle muscle weakness | |
| HP:0001761 | Pes cavus | |
| HP:0001561 | Polyhydramnios | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0002878 | Respiratory failure | |
| HP:0002650 | Scoliosis | |
| HP:0003547 | Shoulder girdle muscle weakness | |
| HP:0002360 | Sleep abnormality | |
| HP:0001762 | Talipes equinovarus | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 31578728[PMID]_32456280[PMID]_29141652[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2020
- This record as JSON: /data/d/2020.json