ORPHA:1314
Symmetrical thalamic calcifications
Synonyms: Bilateral symmetrical thalamic gliosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Symmetrical thalamic calcifications | Bilateral symmetrical thalamic gliosis |
| fr | Calcifications thalamiques symétriques | Gliose thalamique symétrique bilatérale |
| de | Thalamus-Kalzifikationen, symmetrische | Bilaterale symmetrische Gliose des Thalamus |
| es | Calcificaciones talámicas simétricas | Gliosis talámica bilateral simétrica |
| it | Calcificazioni talamiche simmetriche | |
| nl | Symmetrische thalamische calcificaties | Bilaterale symmetrische thalamische gliose |
| pt | Calcificações talâmicas simétricas | |
| pl | Symetryczne zwapnienia wzgórza | Obstronna symetryczna glejoza wzgórza |
| cs | Symetrické kalcifikace v oblasti thalamu | = en |
| uk | Симетричні кальцифікати таламуса | Двосторонній симетричний гліоз таламуса |
| zh | 对称性丘脑钙化 | 双侧对称性丘脑胶质增生 |
| tr | Simetrik talamik kalsifikasyonlar | Bilateral simetrik talamik gliosis |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G93.8 | NTBT | attributed | validated |
| MONDO | 0015269 | E | validated | |
| UMLS | C4304914 | E | validated | |
| GARD | 5070 | 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 (1):
- ORPHA:98006Rare neurologic disease
rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1577OBSOLETE: Infantile thalamic degeneration referred to · inactive
- ORPHA:3311OBSOLETE: Infantile symmetrical thalamic degeneration referred to · inactive
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | 28063749[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28063749[PMID] |
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
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| HP:0002514 | Cerebral calcification | |
| HP:0100543 | Cognitive impairment | |
| HP:0002353 | EEG abnormality | |
| HP:0001276 | Hypertonia | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0001257 | Spasticity | |
| HP:0001612 | Weak cry | |
| Frequent (79-30%) | ||
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0001608 | Abnormality of the voice | |
| HP:0011675 | Arrhythmia | |
| HP:0001508 | Failure to thrive | |
| HP:0000252 | Microcephaly | |
| HP:0001561 | Polyhydramnios | |
| HP:0001250 | Seizure | |
Run the differential on the 9 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1314
- This record as JSON: /data/d/1314.json