Hereditary hypophosphatemic rickets with hypercalciuria
Synonyms: HHRH
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare hereditary disorder of renal phosphate wasting characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary hypophosphatemic rickets with hypercalciuria | HHRH |
| fr | Rachitisme hypophosphatémique héréditaire avec hypercalciurie | = en |
| de | Rachitis, hypophosphatämische, mit Hyperkalziurie | = en |
| es | Raquitismo hipofosfatémico hereditario con hipercalciuria | = en |
| it | Rachitismo ipofosfatemico ereditario con ipercalciuria | = en |
| nl | Erfelijke hypofosfatemische rachitis met hypercalciurie | = en |
| pt | Raquitismo hipofosfatémico com hipercalciúria | |
| pl | Dziedziczna krzywica hipofosfatemiczna z hiperkalciurią | = en |
| cs | Hereditární hypofosfatemická křivice s hyperkalciurií | = en |
| uk | Спадковий гіпофосфатемічний рахіт з гіперкальціурією | = en |
| zh | 伴尿钙过多的遗传性低血磷性佝偻病 | = en |
| tr | Hiperkalsiürili kalıtsal hipofosfatemik raşitizm | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 241530 | E | validated | |
| ICD-10 | E83.3 | NTBT | attributed | validated |
| ICD-11 | 5C63.22 | NTBT | index | validated |
| MONDO | 0009431 | E | validated | |
| MeSH | C562793 | E | validated | |
| UMLS | C1853271 | 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 (1):
- ORPHA:437Hypophosphatemic rickets
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare endocrine diseases; rare bone diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC34A3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:20305 | ENSG00000198569 | 609826 | 9q34.3 | solute carrier family 34 member 3 | 16358215[PMID] |
| SLC34A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11019 | ENSG00000131183 | 182309 | 5q35.3 | solute carrier family 34 member 1 | 32311027[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet 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
21 annotations · validated 2021-01-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0031817 | Decreased circulating parathyroid hormone level | |
| HP:0010639 | Elevated alkaline phosphatase of bone origin | |
| HP:0031415 | High serum calcitriol | |
| HP:0002150 | Hypercalciuria | |
| HP:0003109 | Hyperphosphaturia | |
| HP:0002148 | Hypophosphatemia | |
| HP:0004912 | Hypophosphatemic rickets | |
| HP:0031425 | Increased circulating beta-C-terminal telopeptide level | |
| HP:0031428 | Increased circulating osteocalcin level | |
| Frequent (79-30%) | ||
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0002653 | Bone pain | |
| HP:0001510 | Growth delay | |
| HP:0012408 | Medullary nephrocalcinosis | |
| HP:0000787 | Nephrolithiasis | |
| HP:0002749 | Osteomalacia | |
| HP:0004349 | Reduced bone mineral density | |
| Occasional (29-5%) | ||
| HP:0002979 | Bowing of the legs | |
| HP:0002756 | Pathologic fracture | |
| HP:0000897 | Rachitic rosary | |
| HP:0004322 | Short stature | |
| HP:0002515 | Waddling gait | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 23108197[PMID]_30109410[PMID]_30454743[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/157215
- This record as JSON: /data/d/157215.json