ORPHA:272
Congenital muscular dystrophy, Fukuyama type
Synonyms: FCMD · FKTN-related congenital muscular dystrophy · Fukuyama congenital muscular dystrophy
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare congenital progressive muscular dystrophy often characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital muscular dystrophy, Fukuyama type | FCMD · FKTN-related congenital muscular dystrophy · Fukuyama congenital muscular dystrophy |
| fr | Dystrophie musculaire congénitale type Fukuyama | Dystrophie musculaire congénitale liée à FKTN · FCMD |
| de | Muskeldystrophie, kongenitale, Typ Fukuyama | FCMD · Fukuyama-Muskeldystrophie |
| es | Distrofia muscular congénita tipo Fukuyama | Distrofia muscular congénita de Fukuyama · FCMD |
| it | Distrofia muscolare congenita, tipo Fukuyama | Distrofia muscolare congenita di Fukuyama · FCMD |
| nl | Congenitale spierdystrofie, Fukuyama-type | CMD, Fukuyama-type · FCMD · FKTN-gerelateerde congenitale spierdystrofie |
| pt | Distrofia muscular congénita, tipo Fukuyama | Distrofia muscular congénita FKTN-relacionada · Distrofia muscular congénita Fukuyama · FCMD |
| pl | Wrodzona dystrofia mięśniowa typu Fukuyamy | FCMD · Wrodzona dystrofia mięśniowa Fukuyamy |
| cs | Vrozená svalová dystrofie, Fukuyamův typ | FCMD · Fukuyamova vrozená svalová dystrofie |
| uk | Вроджена мязова дистрофія, тип Фукуями | FCMD · Вроджена мязова дистрофія, повязана з FKTN · Вроджена мязова дистрофія Фукуями |
| zh | 福山型先天性肌营养不良症 | 福山型先天性肌营养不良症 |
| tr | Doğumsal kas distrofisi, Fukuyama tipi | FCMD · Fukuyama Doğumsal kas distrofisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 253800 | NTBT | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C70.6 | NTBT | index | validated |
| MONDO | 9678 | E | validated | |
| UMLS | C0410174 | E | validated | |
| GARD | 6475 | 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 (9):
- ORPHA:371235Congenital disorder of glycosylation with developmental anomaly
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:371071Congenital disorder of glycosylation with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - ORPHA:352687Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:309469Disorder of O-mannosylglycan synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:98644Metabolic disease with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:207122Qualitative or quantitative defects of fukutin
rare genetic diseases - ORPHA:98638Rare disease with glaucoma as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FKTN | Disease-causing germline mutation(s) in | Assessed | HGNC:3622 | ENSG00000106692 | 607440 | 9q31.2 | fukutin | 20301385[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2.8 / 100 000 | Japan | Value and class | Validated | 20301385[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 20301385[PMID]_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
31 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0003457 | EMG abnormality | |
| HP:0001371 | Flexion contracture | |
| HP:0001288 | Gait disturbance | |
| HP:0001263 | Global developmental delay | |
| HP:0030046 | Hypoglycosylation of alpha-dystroglycan | |
| HP:0001252 | Hypotonia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000298 | Mask-like facies | |
| HP:0003560 | Muscular dystrophy | |
| HP:0003198 | Myopathy | |
| HP:0001357 | Plagiocephaly | |
| HP:0007260 | Type II lissencephaly | |
| Frequent (79-30%) | ||
| HP:0000248 | Brachycephaly | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0002353 | EEG abnormality | |
| HP:0000238 | Hydrocephalus | |
| HP:0000545 | Myopia | |
| HP:0000767 | Pectus excavatum | |
| HP:0001250 | Seizure | |
| HP:0002119 | Ventriculomegaly | |
| HP:0001612 | Weak cry | |
| Occasional (29-5%) | ||
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0000518 | Cataract | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0000268 | Dolichocephaly | |
| HP:0000501 | Glaucoma | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000648 | Optic atrophy | |
| HP:0007973 | Retinal dysplasia | |
| HP:0000505 | Visual impairment | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/272
- This record as JSON: /data/d/272.json