Autosomal recessive infantile hypercalcemia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
HYPERCALCEMIA, IDIOPATHIC, OF INFANCY Familial infantile hypercalcemia with suppressed intact parathyroid hormone |
| Number of Symptoms | 24 |
| OrphanetNr: | 300547 |
| OMIM Id: |
143880
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| ICD-10: |
E83.5 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Nephropathy secondary to a storage or other metabolic disease
-Rare genetic disease -Rare renal disease Rare genetic parathyroid disease and phosphocalcic metabolism disorder -Rare genetic disease Rare parathyroid diseases and phosphocalcic metabolism disorder -Rare endocrine disease |
Symptom Information:
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(HPO:0000787) | Nephrolithiasis | rare [HPO:skoehler] | 78 / 7739 | |||
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(HPO:0000103) | Polyuria | 60 / 7739 | ||||
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(HPO:0000121) | Nephrocalcinosis | 57 / 7739 | ||||
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(HPO:0002150) | Hypercalciuria | 45 / 7739 | ||||
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(HPO:0004428) | Elfin facies | 5 / 7739 | ||||
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(HPO:0000179) | Thick lower lip vermilion | 72 / 7739 | ||||
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(HPO:0000478) | Abnormality of the eye | 126 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001254) | Lethargy | 104 / 7739 | ||||
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(HPO:0002013) | Vomiting | 191 / 7739 | ||||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0001824) | Weight loss | 42 / 7739 | ||||
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(HPO:0001642) | Pulmonic stenosis | 89 / 7739 | ||||
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(HPO:0001650) | Aortic valve stenosis | 49 / 7739 | ||||
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(HPO:0003072) | Hypercalcemia | 36 / 7739 | ||||
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(HPO:0008250) | Infantile hypercalcemia | 3 / 7739 | ||||
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(HPO:0001944) | Dehydration | 59 / 7739 | ||||
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(HPO:0008947) | Infantile muscular hypotonia | 482 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
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(HPO:0010547) | Muscle flaccidity | 466 / 7739 | ||||
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(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
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(OMIM) | Suppression of intact parathyroid hormone levels | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Infantile hypercalcemia is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. An epidemic of idiopathic infantile hypercalcemia occurred in the United Kingdom in the 1950s after the implementation of an increased prophylactic dose of vitamin ... |
| Clinical Description OMIM |
Suspicion of a genetic basis of hypercalcemia was provided by the family reported first by Smith et al. (1959) and later by Kenny et al. (1963). Two sisters were affected. The authors suggested that the defect might concern ... |
| Molecular genetics OMIM |
In 4 probands and 2 asymptomatic sibs with idiopathic infantile hypercalcemia from 4 unrelated families, including a Turkish family of known consanguinity, Schlingmann et al. (2011) analyzed 4 candidate genes involved in vitamin D metabolism and identified homozygosity ... |