Sagliker syndrome
- Type
- Particular clinical situation in a disease or syndrome
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- All ages
- Status
- active
A rare bone disease characterized by secondary hyperparathyroidism in patients with chronic renal failure, caused by improper treatment in the early stages of the disease with retention of phosphorus, vitamin D deficiency, and disturbed calcium-phosphorus metabolism, which result in increased parathyroid hormone levels. Patients present with short stature, severe changes of the skull and jaws as well as other skeletal deformities, dental anomalies, ''brown tumors'' in the mouth, hearing loss, and neuropsychiatric disorders.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sagliker syndrome | |
| fr | Syndrome de Sagliker | |
| de | Sagliker-Syndrom | |
| es | Síndrome de Sagliker | |
| it | Sindrome di Sagliker | |
| nl | Syndroom van Sagliker | |
| pt | Síndrome Sagliker | |
| pl | Zespół Saglikera | |
| cs | Saglikerových syndrom | |
| uk | Синдром Саглікера | |
| zh | Sagliker综合征 | |
| tr | Sagliker sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | N25.8 | NTBT | attributed | validated |
| ICD-11 | GB90.4Y | NTBT | attributed | validated |
| MONDO | 17584 | E | validated | |
| UMLS | C5681093 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:93419Rare bone disease
rare bone diseases - ORPHA:181408Rare hyperparathyroidism
rare endocrine diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 60 cases | Worldwide | Case(s) | Validated | 22200434[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.
HPO phenotypes
13 annotations · validated 2016-10-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0003165 | Elevated circulating parathyroid hormone level | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0002814 | Abnormality of the lower limb | |
| HP:0000716 | Depression | |
| HP:0005101 | High-frequency hearing impairment | |
| HP:0002515 | Waddling gait | |
| Occasional (29-5%) | ||
| HP:0001167 | Abnormality of finger | |
| HP:0000739 | Anxiety | |
| HP:0002829 | Arthralgia | |
| HP:0002007 | Frontal bossing | |
| HP:0100649 | Neoplasm of the oral cavity | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 24413727[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/300493
- This record as JSON: /data/d/300493.json