ORPHA:330054
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Synonyms: Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, mitochondrial myopathy characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome |
| fr | Syndrome de cataracte congénitale-hypotonie musculaire progressive-surdité-retard de développement | |
| de | Kongenitale Katarakt-progressive Muskelhypotonie-Hörverlust-Entwicklungsverzögerung-Syndrom | |
| es | Síndrome de catarata congénita-hipotonía muscular progresiva-hipoacusia-retraso del desarrollo | Síndrome de catarata congénita-hipotonía muscular progresiva-sordera-retraso del desarrollo |
| it | Sindrome da cataratta congenita, ipotonia muscolare progressiva, sordità e ritardo dello sviluppo | Cataratta congenita - ipotonia muscolare progressiva - sordità - ritardo dello sviluppo |
| nl | Congenitaal cataract - progressieve spierhypotonie - gehoorverlies - ontwikkelingsachterstand-syndroom | Congenitaal cataract - progressieve spierhypotonie - doofheid - ontwikkelingsachterstand-syndroom |
| pt | Síndrome de catarata congénita-hipotonia muscular progressiva-perda auditiva-perturbação do desenvolvimento | Síndrome de catarata congénita-hipotonia muscular progressiva-surdez-perturbação do desenvolvimento |
| pl | Zaćma wrodzona - postępująca hipotonia mięśni - utrata słuchu - opóźnienie rozwoju | Zaćma wrodzona - postępująca hipotonia mięśni - głuchota - opóźnienie rozwoju |
| cs | Syndrom zahrnující vrozenou kataraktu, progresivní svalovou hypotonii, ztrátu sluchu a vývojové opoždění | Syndrom zahrnující vrozenou kataraktu, progresivní svalovou hypotonii, hluchotu a vývojové opoždění |
| uk | Синдром вродженої катаракти-прогресуючої мязової гіпотонії-втрати слуху-затримки розвитку | Синдром вродженої катаракти - прогресуючої мязової гіпотонії - глухотиа - затримки розвитку |
| zh | 先天性白内障-进行性肌张力减退-听力丧失-发育迟缓综合征 | 先天性白内障-进行性肌张力减退-耳聋-发育迟缓综合征 |
| tr | Doğumsal katarakt-ilerleyici kas hipotoni-işitme kaybı-gelişme geriliği sendromu | Doğumsal katarakt-ilerleyici kas hipotoni-sağırlık-gelişme geriliği sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613076 | E | validated | |
| ICD-10 | G71.3 | NTBT | attributed | validated |
| ICD-11 | 8C73.Y | NTBT | attributed | validated |
| MONDO | 0013116 | E | validated | |
| UMLS | C4750835 | E | validated | |
| GARD | 10522 | 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 (6):
- ORPHA:206966Mitochondrial myopathy
rare genetic diseases; rare neurological diseases - ORPHA:2443Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
rare inborn errors of metabolism; rare genetic diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GFER | Disease-causing germline mutation(s) in | Assessed | HGNC:4236 | ENSG00000127554 | 600924 | 16p13.3 | growth factor, augmenter of liver regeneration | 19409522[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 19409522[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
13 annotations · validated 2018-11-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0030089 | Abnormal muscle fiber protein expression | |
| HP:0008936 | Axial hypotonia | |
| HP:0012343 | Decreased serum ferritin | |
| HP:0000519 | Developmental cataract | |
| HP:0001263 | Global developmental delay | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001252 | Hypotonia | |
| HP:0003128 | Lactic acidosis | |
| HP:0000408 | Progressive sensorineural hearing impairment | |
| HP:0000508 | Ptosis | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0001583 | Rotary nystagmus | |
| Excluded (0%) | ||
| HP:0001324 | Muscle weakness | |
Annotation source: 19409522[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/330054
- This record as JSON: /data/d/330054.json