ORPHA:93160
Hypocalcemic vitamin D-resistant rickets
Synonyms: HVDRR · Hereditary vitamin D-resistant rickets · VDDR II · VDRR II · Vitamin D-dependent rickets type II · Vitamin D-resistant rickets type II
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic, disorder of vitamin D metabolism characterized by hypocalcemia, severe rickets and in many cases alopecia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypocalcemic vitamin D-resistant rickets | HVDRR · Hereditary vitamin D-resistant rickets · VDDR II · VDRR II · Vitamin D-dependent rickets type II · Vitamin D-resistant rickets type II |
| fr | Rachitisme hypocalcémique résistant à la vitamine D | HVDRR · Rachitisme héréditaire résistant à la vitamine D · Rachitisme résistant à la vitamine D de type II · Rachitisme vitamine D-dépendant de type II · VDDR II · VDRR II |
| de | Rachitis, hypokalzämische, Vitamin D-resistente | HVDRR · Rachitis, Vitamin D-abhängige, Typ II · Rachitis, Vitamin D-resistente, Typ II · VDDR II · VDRR II · Vitamin D-resistente Rachitis, hereditäre |
| es | Raquitismo hipocalcémico resistente a la vitamina D | HVDRR · Raquitismo dependiente de vitamina D tipo II · Raquitismo hereditario resistente a la vitamina D · Raquitismo resistente a la vitamina D tipo II · VDDR II · VDRR II |
| it | Rachitismo ipocalcemico resistente alla vitamina D | Rachitismo dipendente dalla vitamina D, tipo II · Rachitismo ereditario resistente alla vitamina D · Rachitismo resistente alla vitamina D, tipo II · VDDR II · VDRR II · HVDRR |
| nl | Hypocalciëmische vitamine D-resistente rachitis | Erfelijke vitamine D-resistente rachitis · HVDRR · VDDR II · VDRR II · Vitamine D-afhankelijke rachitis type II · Vitamine D-resistente rachitis type II |
| pt | Raquitismo hipocalcémico vitamina D-resistente | Raquitismo vitamina D-resistente, tipo II |
| pl | Krzywica hipokalcemiczna oporna na witaminę D | Dziedziczna krzywica oporna na witaminę D · HVDRR · Krzywica oporna na witaminę D typu II · Krzywica zależna od witaminy D typu II · VDDR II · VDRR II |
| cs | Hypokalcemická vitamin D rezistentní křivice/rachitida | HVDRR · VDDR II · VDRR II · Dědičná vitamin D rezistentní křivice/rachitida · Vitamin D dependentní křivice/rachitida, typ II · Vitamin D rezistentní křivice/rachitida, typ II |
| uk | Гіпокальціємічний вітамін D-резистентний рахіт | Спадковий рахіт, стійкий до вітаміну D · HVDRR · VDDR II · VDRR II · Вітамін D-залежний рахіт II типу · Рахіт II типу, резистентний до вітаміну D |
| zh | 低血钙性抗维生素D佝偻病 | 遗传性抗维生素D佝偻病 |
| tr | Hipokalsemik D vitaminine dirençli raşitizm | HVDRR · VDDR II · VDRR II · D vitaminine bağımlı raşitizm tip II · D vitaminine dirençli raşitizm tip II · Kalıtsal D vitaminine dirençli raşitizm |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 277440 | BTNT | validated | |
| OMIM | 600785 | BTNT | validated | |
| OMIM | 619073 | BTNT | validated | |
| ICD-10 | E83.3 | NTBT | attributed | validated |
| ICD-11 | 5C63.21 | E | specific | validated |
| MONDO | 0019642 | E | validated | |
| UMLS | C3536983 | 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 (1):
- ORPHA:289103Hypocalcemic rickets
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| VDR | Disease-causing germline mutation(s) in | Assessed | HGNC:12679 | ENSG00000111424 | 601769 | 12q13.11 | vitamin D receptor | 9284761[PMID] |
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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.
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HPO phenotypes
28 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003330 | Abnormal bone structure | |
| HP:0012062 | Bone cyst | |
| HP:0002653 | Bone pain | |
| HP:0000843 | Hyperparathyroidism | |
| HP:0002901 | Hypocalcemia | |
| HP:0002148 | Hypophosphatemia | |
| HP:0001373 | Joint dislocation | |
| HP:0002797 | Osteolysis | |
| HP:0002749 | Osteomalacia | |
| HP:0002757 | Recurrent fractures | |
| HP:0100670 | Rough bone trabeculation | |
| Frequent (79-30%) | ||
| HP:0009124 | Abnormal adipose tissue morphology | |
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0000765 | Abnormal thorax morphology | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0000951 | Abnormality of the skin | |
| HP:0001596 | Alopecia | |
| HP:0000268 | Dolichocephaly | |
| HP:0001288 | Gait disturbance | |
| HP:0002970 | Genu varum | |
| HP:0000787 | Nephrolithiasis | |
| HP:0006323 | Premature loss of primary teeth | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0002007 | Frontal bossing | |
| HP:0002857 | Genu valgum | |
| HP:0002650 | Scoliosis | |
Run the differential on the 11 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93160
- This record as JSON: /data/d/93160.json