ORPHA:171439
Childhood-onset nemaline myopathy
Synonyms: Mild nemaline myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NMs) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Childhood-onset nemaline myopathy | Mild nemaline myopathy |
| fr | Myopathie némaline de l'enfant | Myopathie némaline modérée |
| de | Nemalin-Myopathie, milde | Nemalin-Myopathie, im Kindesalter beginnende |
| es | Miopatía nemalínica de inicio en la infancia | Miopatía nemalínica leve |
| it | Miopatia nemalinica a esordio infantile | Miopatia nemalinica lieve |
| nl | Nemaline myopathie met aanvang in de kindertijd | Milde nemaline myopathie |
| pt | Miopatia nemalínica de início na infância | Miopatia nemalínica ligeira |
| pl | Dziecięca miopatia nemalinowa | Łagodna miopatia nemalinowa |
| cs | Nemalinová myopatie s nástupem v dětském věku | Lehká nemalinová myopatie |
| uk | Немалінова міопатія, що починається в дитинстві | Легка немалінова міопатія |
| zh | 儿童起病杆状体肌病 | 轻度杆状体肌病 |
| tr | Çocuklukta başlayan nemalin miyopatisi | Hafif nemalin miyopati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 161800 | BTNT | validated | |
| OMIM | 256030 | BTNT | validated | |
| OMIM | 609273 | BTNT | validated | |
| OMIM | 609284 | BTNT | validated | |
| OMIM | 609285 | BTNT | validated | |
| OMIM | 615731 | BTNT | validated | |
| OMIM | 617336 | BTNT | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C72.00 | NTBT | index | validated |
| MONDO | 0015738 | E | validated | |
| UMLS | C0546125 | E | validated | |
| GARD | 7171 | 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 (4):
- ORPHA:607Nemaline myopathy
rare genetic diseases; rare neurological diseases - ORPHA:209059Qualitative or quantitative defects of alpha-actin
rare genetic diseases - ORPHA:209182Qualitative or quantitative defects of nebulin
rare genetic diseases - ORPHA:284790Qualitative or quantitative defects of tropomyosin
rare genetic diseases
No children.
4
Genes
7 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KLHL41 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16905 | ENSG00000239474 | 607701 | 2q31.1 | kelch like family member 41 | 24268659[PMID] |
| MYPN | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:23246 | ENSG00000138347 | 608517 | 10q21.3 | myopalladin | 28017374[PMID] |
| ACTA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:129 | ENSG00000143632 | 102610 | 1q42.13 | actin alpha 1, skeletal muscle | |
| KBTBD13 | Disease-causing germline mutation(s) in | Assessed | HGNC:37227 | ENSG00000234438 | 613727 | 15q22.31 | kelch repeat and BTB domain containing 13 | 20301465[PMID]_21104864[PMID] |
| NEB | Disease-causing germline mutation(s) in | Assessed | HGNC:7720 | ENSG00000183091 | 161650 | 2q23.3 | nebulin | |
| TPM2 | Disease-causing germline mutation(s) in | Assessed | HGNC:12011 | ENSG00000198467 | 190990 | 9p13.3 | tropomyosin 2 | 23378224[PMID]_23413262[PMID] |
| TPM3 | Disease-causing germline mutation(s) in | Assessed | HGNC:12012 | ENSG00000143549 | 191030 | 1q21.3 | tropomyosin 3 | 7704029[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
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
46 annotations · validated 2018-10-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0003198 | Myopathy | |
| HP:0003798 | Nemaline bodies | |
| Frequent (79-30%) | ||
| HP:0002067 | Bradykinesia | |
| HP:0002312 | Clumsiness | |
| HP:0003546 | Exercise intolerance | |
| HP:0001288 | Gait disturbance | |
| HP:0009055 | Generalized limb muscle atrophy | |
| HP:0001265 | Hyporeflexia | |
| HP:0009058 | Increased muscle lipid content | |
| HP:0003557 | Increased variability in muscle fiber diameter | |
| HP:0003690 | Limb muscle weakness | |
| HP:0001270 | Motor delay | |
| HP:0003552 | Muscle stiffness | |
| HP:0002068 | Neuromuscular dysphagia | |
| HP:0003306 | Spinal rigidity | |
| HP:0003803 | Type 1 muscle fiber predominance | |
| Occasional (29-5%) | ||
| HP:0001284 | Areflexia | |
| HP:0001623 | Breech presentation | |
| HP:0002483 | Bulbar signs | |
| HP:0001638 | Cardiomyopathy | |
| HP:0001349 | Facial diplegia | |
| HP:0030192 | Fatigable weakness of bulbar muscles | |
| HP:0011968 | Feeding difficulties | |
| HP:0001989 | Fetal akinesia sequence | |
| HP:0001371 | Flexion contracture | |
| HP:0001290 | Generalized hypotonia | |
| HP:0000218 | High palate | |
| HP:0000316 | Hypertelorism | |
| HP:0000276 | Long face | |
| HP:0000347 | Micrognathia | |
| HP:0008180 | Mildly elevated creatine kinase | |
| HP:0000774 | Narrow chest | |
| HP:0000275 | Narrow face | |
| HP:0000467 | Neck muscle weakness | |
| HP:0001761 | Pes cavus | |
| HP:0002792 | Reduced vital capacity | |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
| HP:0003691 | Scapular winging | |
| HP:0002650 | Scoliosis | |
| HP:0001533 | Slender build | |
| HP:0002515 | Waddling gait | |
| Very rare (<4-1%) | ||
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0001561 | Polyhydramnios | |
| HP:0000508 | Ptosis | |
| Excluded (0%) | ||
| HP:0007010 | Poor fine motor coordination | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 22431881[PMID]_25205138[PMID]_24268659[PMID]_17846275[PMID]_11731279[PMID]_21104864[PMID]_11333380[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171439
- This record as JSON: /data/d/171439.json