ORPHA:244305
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare, genetic renal tubular disease characterized by phosphate loss in the proximal tubule, leading to hypercalciuria and recurrent urolithiasis and/or osteoporosis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dominant hypophosphatemia with nephrolithiasis or osteoporosis | |
| fr | Hypophosphatémie dominante avec néphrolithiase ou ostéoporose | |
| de | Dominante Hypophosphatämie mit Nephrolithiasis oder Osteoporose | |
| es | Hipofosfatemia dominante con nefrolitiasis u osteoporosis | |
| it | Ipofosfatemia dominante con nefrolitiasi o osteoporosi | |
| nl | Dominante hypofosfatemie met nefrolithiase of osteoporose | |
| pt | Hipofosfatemia dominante com nefrolitíase ou osteoporose | |
| pl | Dominująca hipofosfatemia z kamicą nerkową lub osteoporozą | |
| cs | Dominantní hypofosfatémie s nefrolitiázou nebo osteoporózou | |
| uk | Домінантна гіпофосфатемія з нефролітіазом або остеопорозом | |
| zh | 低磷酸盐血症为主伴肾结石或骨质疏松症 | |
| tr | Nefrolitiyazis veya osteoporoz ile seyreden dominant hipofosfatemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612286 | BTNT | validated | |
| OMIM | 612287 | BTNT | validated | |
| ICD-10 | N25.8 | NTBT | attributed | validated |
| ICD-11 | GB90.48 | NTBT | attributed | validated |
| MONDO | 0016579 | E | validated | |
| UMLS | C5191009 | 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:437Hypophosphatemic rickets
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare endocrine diseases; rare bone diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NHERF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11075 | ENSG00000109062 | 604990 | 17q25.1 | NHERF family PDZ scaffold protein 1 | 18784102[PMID] |
| SLC34A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11019 | ENSG00000131183 | 182309 | 5q35.3 | solute carrier family 34 member 1 | 12324554[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 12324554[PMID]_18784102[PMID]_26787776[PMID]_29924459[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29924459[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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/244305
- This record as JSON: /data/d/244305.json