ORPHA:2072
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Synonyms: Cardiovascular Gaucher disease · Gaucher disease type 3C · Gaucher-like disease
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | Cardiovascular Gaucher disease · Gaucher disease type 3C · Gaucher-like disease |
| fr | Syndrome de maladie de Gaucher-ophtalmoplégie-calcification cardio-vasculaire | Maladie de Gaucher type 3C · Maladie de Gaucher, forme cardio-vasculaire · Maladie de Gaucher-like |
| de | Gaucher-Krankheit - Ophthalmoplegie - kardiovaskuläre Verkalkungen | Gaucher-Krankheit Typ 3C · Gaucher-Krankheit, kardiovaskuläre Form · Gaucher-ähnliche Krankheit |
| es | Síndrome de enfermedad de Gaucher-oftalmoplejía-calcificación cardiovascular | |
| it | Malattia di Gaucher - oftalmoplegia - calcificazioni cardiovascolari | Malattia Gaucher-simile · Malattia di Gaucher, forma cardiovascolare · Malattia di Gaucher, tipo 3C |
| nl | Ziekte van Gaucher - oftalmoplegie - cardiovasculaire calcificatie-syndroom | Cardiovasculaire ziekte van Gaucher · Ziekte van Gaucher type 3C · Ziekte van Gaucher-achtig |
| pt | Síndrome doença de Gaucher-oftalmoplegia-calcificação cardiovascular | Doença Gaucher-like · Doença de Gaucher cardiovascular · Doença de Gaucher tipo 3C |
| pl | Choroba Gauchera - oftalmoplegia - wapnienie serca i naczyń | Choroba Gauchera typu 3C · Choroba podobna do zespołu Gauchera · Sercowo - naczyniowa choroba Gauchera |
| cs | Syndrom zahrnující Gaucherovu chorobu, oftalmoplegii a kardiovaskulární kalcifikaci | Kardiovaskulární Gaucherova choroba · Gaucherova choroba, typ 3C · Choroba podobná Gaucherově |
| uk | Синдром хвороби Гоше-офтальмоплегії-кальцифікації серцево-судинної системи | Серцево-судинна хвороба Гоше · Хвороба Гоше, тип 3C · Хвороба Гоше |
| zh | 戈谢病-眼肌麻痹-心血管钙化综合征 | 心血管型戈谢病 |
| tr | Gaucher hastalığı-oftalmopleji-kardiyovasküler kalsifikasyon sendromu | Gaucher-benzeri hastalık · Gaucher hastalığı tip 3C · Kardiyovasküler Gaucher hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 231005 | E | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| ICD-11 | 5C56.0Y | NTBT | index | validated |
| MONDO | 0009268 | E | validated | |
| UMLS | C2931585 | 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 (2):
- ORPHA:355Gaucher disease
rare inborn errors of metabolism; rare genetic diseases; rare transplant-related disorders - ORPHA:98688Oculomotor apraxia
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GBA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4177 | ENSG00000177628 | 606463 | 1q22 | glucosylceramidase beta 1 | 10636167[PMID]_20301446[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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
57 annotations · validated 2024-12-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0004380 | Aortic valve calcification | |
| HP:0004963 | Calcification of the aorta | |
| HP:0007957 | Corneal opacity | |
| HP:0003656 | Decreased beta-glucocerebrosidase level | |
| HP:6001185 | Elevated circulating glucosylsphingosine concentration | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0004382 | Mitral valve calcification | |
| HP:0001873 | Thrombocytopenia | |
| Occasional (29-5%) | ||
| HP:0001903 | Anemia | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0001288 | Gait disturbance | |
| HP:0001510 | Growth delay | |
| HP:0001822 | Hallux valgus | |
| HP:0002315 | Headache | |
| HP:0000238 | Hydrocephalus | |
| HP:0001347 | Hyperreflexia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001265 | Hyporeflexia | |
| HP:0001249 | Intellectual disability | |
| HP:0001653 | Mitral regurgitation | |
| HP:0001718 | Mitral stenosis | |
| HP:0000657 | Oculomotor apraxia | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0001876 | Pancytopenia | |
| HP:0001761 | Pes cavus | |
| HP:0002206 | Pulmonary fibrosis | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001258 | Spastic paraplegia | |
| HP:0001744 | Splenomegaly | |
| HP:0004406 | Spontaneous, recurrent epistaxis | |
| HP:0000486 | Strabismus | |
| HP:0001714 | Ventricular hypertrophy | |
| HP:0002119 | Ventriculomegaly | |
| Very rare (<4-1%) | ||
| HP:0006530 | Abnormal pulmonary interstitial morphology | |
| HP:0000570 | Abnormal saccadic eye movements | |
| HP:0025160 | Abnormal temper tantrums | |
| HP:0000027 | Azoospermia | |
| HP:0006689 | Bacterial endocarditis | |
| HP:0000248 | Brachycephaly | |
| HP:0001081 | Cholelithiasis | |
| HP:0031364 | Ecchymosis | |
| HP:0002040 | Esophageal varix | |
| HP:0011968 | Feeding difficulties | |
| HP:0000974 | Hyperextensible skin | |
| HP:0001276 | Hypertonia | |
| HP:0002070 | Limb ataxia | |
| HP:0001270 | Motor delay | |
| HP:0010543 | Opsoclonus | |
| HP:0000767 | Pectus excavatum | |
| HP:0000508 | Ptosis | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0002650 | Scoliosis | |
| HP:0200042 | Skin ulcer | |
| HP:0000605 | Supranuclear gaze palsy | |
| HP:0005619 | Thoracolumbar kyphosis | |
Annotation source: 39544691[PMID]_37061027[PMID]_20301446[PMID]_31130326[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2072
- This record as JSON: /data/d/2072.json