Autosomal recessive hypophosphatemic rickets
Synonyms: ARHR
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare, autosomal recessive renal phosphate-wasting disorder characterized by childhood-onset hypophosphatemia that clinically manifests with rickets and/or osteomalacia, slow growth/short stature, bone pain and skeletal deformities. Additional findings may include fatigue, muscle weakness and repeated bone fractures.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive hypophosphatemic rickets | ARHR |
| fr | Rachitisme hypophosphatémique autosomique récessif | ARHR · Hypophosphatémie autosomique récessive |
| de | Rachitis, hypophosphatämische, autosomal-rezessive | = en |
| es | Raquitismo hipofosfatémico autosómico recesivo | = en |
| it | Rachitismo ipofosfatemico autosomico recessivo | = en |
| nl | Autosomaal recessieve hypofosfatemische rachitis | = en |
| pt | Raquitismo hipofosfatémico autossómico recessivo | = en |
| pl | Autosomalna recesywna krzywica hipofosfatemiczna | = en |
| cs | Autozomálně recesivní hypofosfatemická křivice | = en |
| uk | Аутосомно-рецесивний гіпофосфатемічний рахіт | = en |
| zh | 常染色体隐性遗传性低磷性佝偻病 | = en |
| tr | Otozomal resesif hipofosfatemik raşitizm | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 241520 | BTNT | validated | |
| OMIM | 613312 | BTNT | validated | |
| ICD-10 | E83.3 | NTBT | attributed | validated |
| ICD-11 | 5C63.22 | NTBT | index | validated |
| MONDO | 0017324 | E | validated | |
| UMLS | C0342643 | E | validated | |
| MedDRA | 10077943 | 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 |
|---|---|---|---|---|---|---|---|---|
| DMP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2932 | ENSG00000152592 | 600980 | 4q22.1 | dentin matrix acidic phosphoprotein 1 | |
| ENPP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3356 | ENSG00000197594 | 173335 | 6q23.2 | ectonucleotide pyrophosphatase/phosphodiesterase 1 |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | 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
37 annotations · validated 2017-03-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0004912 | Hypophosphatemic rickets | |
| Very frequent (99-80%) | ||
| HP:0100671 | Abnormal trabecular bone morphology | |
| HP:0011036 | Abnormality of renal excretion | |
| HP:0002814 | Abnormality of the lower limb | |
| HP:0100511 | Abnormality of vitamin D metabolism | |
| HP:0002653 | Bone pain | |
| HP:0002812 | Coxa vara | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0005096 | Distal femoral bowing | |
| HP:0010639 | Elevated alkaline phosphatase of bone origin | |
| HP:0003020 | Enlargement of the wrists | |
| HP:0002970 | Genu varum | |
| HP:0001510 | Growth delay | |
| HP:0003109 | Hyperphosphaturia | |
| HP:0011001 | Increased bone mineral density | |
| HP:0012052 | Low serum calcitriol | |
| HP:0100559 | Lower limb asymmetry | |
| HP:0002749 | Osteomalacia | |
| HP:0005764 | Polyarticular arthritis | |
| HP:0008732 | Renal hypophosphatemia | |
| HP:0000117 | Renal phosphate wasting | |
| HP:0006463 | Rickets of the lower limbs | |
| HP:0004576 | Sclerotic vertebral endplates | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004322 | Short stature | |
| HP:0002652 | Skeletal dysplasia | |
| Frequent (79-30%) | ||
| HP:0100781 | Abnormality of the sacroiliac joint | |
| HP:0001363 | Craniosynostosis | |
| HP:0100686 | Enthesitis | |
| HP:0002024 | Malabsorption | |
| HP:0100036 | Pseudo-fractures | |
| HP:0003416 | Spinal canal stenosis | |
| HP:0002982 | Tibial bowing | |
| HP:0030757 | Tooth abscess | |
| Excluded (0%) | ||
| HP:0003472 | Hypocalcemic tetany | |
| HP:0001324 | Muscle weakness | |
| HP:0001250 | Seizure | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 894124[PMID]_308618[PMID]_17033621[PMID]_17033625[PMID]_180907[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/289176
- This record as JSON: /data/d/289176.json