Autosomal recessive infantile hypercalcemia
Synonyms: Familial infantile hypercalcemia with suppressed intact parathyroid hormone · IIH · Idiopathic infantile hypercalcemia · Infantile hypercalcaemia type 1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive infantile hypercalcemia | Familial infantile hypercalcemia with suppressed intact parathyroid hormone · IIH · Idiopathic infantile hypercalcemia · Infantile hypercalcaemia type 1 |
| fr | Hypercalcémie infantile autosomique récessive | HII · Hypercalcémie infantile familiale avec diminution de PTHi · Hypercalcémie infantile familiale avec diminution de parathormone intacte · Hypercalcémie infantile idiopathique |
| de | Hyperkalzämie, infantile, autosomal-rezessive | Familiäre infantile Hyperkalzämie mit supprimiertem intakten Parathyroidhormon · IIH · Idiopathische infantile Hyperkalzämie · Infantile Hyperkalzämie Typ 1 |
| es | Hipercalcemia del lactante autosómica recesiva | Hipercalcemia del lactante familiar con supresión de la hormona paratiroidea intacta · Hipercalcemia infantil idiopática · Hipercalcemia infantil tipo 1 |
| it | Ipercalcemia infantile autosomica recessiva | Ipercalcemia infantile idiopatica · IIH · Ipercalcemia infantile di tipo 1 · Ipercalcemia infantile familiare con diminuzione dell'ormone paratiroideo intatto |
| nl | Autosomaal recessieve infantiele hypercalciëmie | Familiale infantiele hypercalciëmie met onderdrukt intact parathyroïdhormoon · IIH · Idiopathische infantiele hypercalciëmie · Infantiele hypercalciëmie type 1 |
| pt | Hipercalcémia da infância autossómica recessiva | |
| pl | Autosomalna recesywna hiperkalcemia dziecięca | = en |
| cs | Autozomálně recesivní infantilní hyperkalcémie | Familiární infantilní hyperkalcémie s potlačenými intaktními paratyreoidálními hormony |
| uk | Аутосомно-рецесивна інфантильна гіперкальціємія | Сімейна дитяча гіперкальціємія з пригніченням інтактного паратиреоїдного гормону |
| zh | 常染色体隐性遗传性婴儿高钙血症 | 家族性婴儿高钙血症伴甲状旁腺激素受抑 |
| tr | Otozomal resesif infantil hiperkalsemi | İntakt paratiroid hormonu baskılanmış ailesel infantil hiperkalsemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 143880 | BTNT | validated | |
| OMIM | 616963 | BTNT | validated | |
| ICD-10 | E83.5 | NTBT | attributed | validated |
| ICD-11 | 5C64.5 | NTBT | attributed | validated |
| MONDO | 0000212 | E | validated | |
| MONDO | 212 | E | validated | |
| UMLS | C4329374 | 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 (4):
- ORPHA:93593Nephropathy secondary to a storage or other metabolic disease
rare genetic diseases; rare renal diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:183634Rare genetic parathyroid disease and phosphocalcic metabolism disorder
rare genetic diseases - ORPHA:68415Rare parathyroid disease and phosphocalcic metabolism anomaly
rare endocrine diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CYP24A1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2602 | ENSG00000019186 | 126065 | 20q13.2 | cytochrome P450 family 24 subfamily A member 1 | 21675912[PMID] |
| SLC34A1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11019 | ENSG00000131183 | 182309 | 5q35.3 | solute carrier family 34 member 1 | 26047794[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/300547
- This record as JSON: /data/d/300547.json