ORPHA:428
Autosomal dominant hypocalcemia
Synonyms: AD hypocalcemia
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with disproportionately low/normal levels of parathyroid hormone (PTH) and persistent normal or elevated renal calcium excretion.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant hypocalcemia | AD hypocalcemia |
| fr | Hypocalcémie autosomique dominante | |
| de | Hypokalzämie, autosomal-dominante | AD Hypokalzämie |
| es | Hipocalcemia autosómica dominante | Hipocalcemia AD |
| it | Ipocalcemia autosomica dominante | Ipocalcemia AD |
| nl | Autosomaal dominante hypocalciëmie | AD hypocalciëmie |
| pt | Hipocalcemia autossómica dominante | |
| pl | Autosomalna dominująca hipokalcemia | AD hipokalcemia |
| cs | Autozomálně dominantní hypokalcémie | AD hypokalcémie |
| uk | Аутосомно-домінантна гіпокальціємія | Гіпокальціємія при артеріальній гіпертензії |
| zh | 常染色体显性低钙血症 | 常染色体显性低钙血症 |
| tr | Otozomal dominant hipokalsemi | AD hipokalsemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601198 | E | validated | |
| OMIM | 615361 | BTNT | validated | |
| ICD-10 | E20.8 | NTBT | attributed | validated |
| ICD-11 | 5A50.0Y | NTBT | index | validated |
| MONDO | 0018543 | E | validated | |
| UMLS | C4048195 | E | validated | |
| GARD | 2877 | 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:2238Familial isolated hypoparathyroidism
rare genetic diseases; rare ophthalmic disorders; rare endocrine diseases - ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:263417Bartter syndrome with hypocalcemia moved to · inactive
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CASR | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:1514 | ENSG00000036828 | 601199 | 3q13.33-q21.1 | calcium sensing receptor | 9920108[PMID]_12733714[PMID]_22789683[PMID] |
| GNA11 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:4379 | ENSG00000088256 | 139313 | 19p13.3 | G protein subunit alpha 11 | 23802516[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.161 / 100 000 | Denmark | Value and class | Validated | 25753591[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | 3.9 / 100 000 | United States | Value and class | Validated | 32386559[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
30 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000739 | Anxiety | |
| HP:0000708 | Atypical behavior | |
| HP:0040148 | Cortical myoclonus | |
| HP:0000716 | Depression | |
| HP:0003457 | EMG abnormality | |
| HP:0000712 | Emotional lability | |
| HP:0003473 | Fatigable weakness | |
| HP:0002150 | Hypercalciuria | |
| HP:0002901 | Hypocalcemia | |
| HP:0003401 | Paresthesia | |
| HP:0002356 | Writer's cramp | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0001597 | Abnormal nail morphology | |
| HP:0002793 | Abnormal pattern of respiration | |
| HP:0001596 | Alopecia | |
| HP:0011675 | Arrhythmia | |
| HP:0000958 | Dry skin | |
| HP:0012608 | Hypermagnesiuria | |
| HP:0002905 | Hyperphosphatemia | |
| HP:0002917 | Hypomagnesemia | |
| HP:0002615 | Hypotension | |
| HP:0000121 | Nephrocalcinosis | |
| Occasional (29-5%) | ||
| HP:0001635 | Congestive heart failure | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0007400 | Irregular hyperpigmentation | |
| HP:0000648 | Optic atrophy | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0004372 | Reduced consciousness | |
Run the differential on the 11 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/428
- This record as JSON: /data/d/428.json