ORPHA:289157
Hypocalcemic vitamin D-dependent rickets
Synonyms: 1-alpha-hydroxylase deficiency · PDDRI · Pseudovitamin D-deficient rickets · VDDI · VDDR-I · Vitamin D dependent rickets type I · Vitamin D-dependency type I
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic disorder of vitamin D metabolism characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypocalcemic vitamin D-dependent rickets | 1-alpha-hydroxylase deficiency · PDDRI · Pseudovitamin D-deficient rickets · VDDI · VDDR-I · Vitamin D dependent rickets type I · Vitamin D-dependency type I |
| fr | Rachitisme hypocalcémique vitamine D-dépendant | Déficit en 1-alpha-hydrolase · Dépendance en vitamine D de type I · PDDRI · Rachitisme d'insuffisance en pseudo-vitamine D · Rachitisme de carence en pseudo-vitamine D · Rachitisme hypocalcémique dépendant de la vitamine D · Rachitisme vitamine D-dépendant de type I · VDDI · VDDR-I |
| de | Rachitis, hypokalzämische, Vitamin D-abhängige | 1-alpha-Hydroxylase-Mangel · PDDRI · Pseudo-Vitamin-D-Mangel-Rachitis · VDDI · VDDR-I · Vitamin-D-Mangel-Rachitis Typ I |
| es | Raquitismo hipocalcémico dependiente de vitamina D | Deficiencia de 1-alfa-hidroxilasa · Dependencia de vitamina D tipo 1 · PDDRI · Raquitismo dependiente de vitamina D tipo I · Raquitismo por deficiencia de pseudovitamina D · VDDI · VDDR-I |
| it | Rachitismo ipocalcemico dipendente dalla vitamina D | Rachitismo con deficit della pseudovitamina D · Rachitismo dipendente dalla vitamina D, tipo I · VDDI · VDDR-I · Deficit di 1-alfa-idrossilasi · Dipendenza dalla vitamina D, tipo I · PDDRI |
| nl | Hypocalciëmische vitamine D-afhankelijke rachitis | 1-alfa-hydroxylasedeficiëntie · PDDRI · Pseudovitamine D-deficiënte rachitis · VDDI · VDDR-I · Vitamine D-afhankelijke rachitis type I · Vitamine D-afhankelijkheid type I |
| pt | Raquitismo hipocalcémico vitamina D-dependente | Deficiência de 1-alfa-hidroxilase · Dependência de vitamina D, tipo I · PDDRI · Raquitismo dependente de vitamina D, tipo I · Raquitismo por deficiência de pseudovitamina D · VDDI · VDDR-I |
| pl | Hipokalcemiczna krzywica zależna od witaminy D | Krzywica zależna od witaminy D typu I · Niedobór 1-alfa-hydroksylazy · PDDRI · Pseudovitamin D-deficient rickets · VDDI · VDDR-I · Vitamin D-dependency type I |
| cs | Hypokalcemická vitamin D-dependentní křivice | Deficit 1-alfahydroxylázy · PDDRI · VDDI · VDDR-I · Vitamin D-dependence, typ I · Pseudovitamin D deficientní křivice · Vitamin D dependentní křivice, typ I |
| uk | Гіпокальціємічний вітамін D-залежний рахіт | Дефіцит 1-альфа-гідроксилази · PDDRI · Псевдовітамін D-дефіцитний рахіт · VDDI · VDDR-I · Вітамін D-залежний рахіт I типу · Залежність від вітаміну D, тип I |
| zh | 低钙维生素D依赖型佝偻病 | I型维生素D依赖性佝偻病 |
| tr | Hipokalsemik D vitamini bağlı raşitizm | VDDI · PDDRI · VDDR-I · D vitamini-bağımlılığı tip I · 1-alfa-hidroksilaz eksikliği · Psödovitamin D-eksikliği olan raşitizm · D vitamini bağımlı raşitizm tip I |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 264700 | E | validated | |
| OMIM | 600081 | BTNT | validated | |
| ICD-10 | E83.3 | NTBT | attributed | validated |
| ICD-11 | 5C63.20 | E | specific | validated |
| MONDO | 0009924 | E | validated | |
| UMLS | C0268689 | 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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CYP27B1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2606 | ENSG00000111012 | 609506 | 12q14.1 | cytochrome P450 family 27 subfamily B member 1 | |
| CYP2R1 | Disease-causing germline mutation(s) in | Assessed | HGNC:20580 | ENSG00000186104 | 608713 | 11p15.2 | cytochrome P450 family 2 subfamily R member 1 |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | — | 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.
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HPO phenotypes
46 annotations · validated 2019-05-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0002901 | Hypocalcemia | Diagnostic criterion |
| HP:0012052 | Low serum calcitriol | Diagnostic criterion |
| HP:0002748 | Rickets | Diagnostic criterion |
| Very frequent (99-80%) | ||
| HP:0002653 | Bone pain | |
| HP:0000886 | Deformed rib cage | |
| HP:0002663 | Delayed epiphyseal ossification | |
| HP:0010639 | Elevated alkaline phosphatase of bone origin | |
| HP:0003165 | Elevated circulating parathyroid hormone level | |
| HP:0003029 | Enlargement of the ankles | |
| HP:0000920 | Enlargement of the costochondral junction | |
| HP:0003020 | Enlargement of the wrists | |
| HP:0001508 | Failure to thrive | |
| HP:0002980 | Femoral bowing | |
| HP:0005469 | Flat occiput | |
| HP:0002909 | Generalized aminoaciduria | |
| HP:0002970 | Genu varum | |
| HP:0002148 | Hypophosphatemia | |
| HP:0002659 | Increased susceptibility to fractures | |
| HP:0005042 | Irregular, rachitic-like metaphyses | |
| HP:0001270 | Motor delay | |
| HP:0001324 | Muscle weakness | |
| HP:0002749 | Osteomalacia | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0000897 | Rachitic rosary | |
| HP:0000867 | Secondary hyperparathyroidism | |
| HP:0002752 | Sparse bone trabeculae | |
| HP:0003106 | Subperiosteal bone resorption | |
| HP:0001281 | Tetany | |
| HP:0002753 | Thin bony cortex | |
| HP:0002982 | Tibial bowing | |
| HP:0010537 | Wide cranial sutures | |
| Frequent (79-30%) | ||
| HP:0001638 | Cardiomyopathy | |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| HP:0002007 | Frontal bossing | |
| HP:0001288 | Gait disturbance | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001931 | Hypochromic anemia | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0000684 | Delayed eruption of teeth | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0002240 | Hepatomegaly | |
| HP:0002199 | Hypocalcemic seizures | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0000737 | Irritability | |
| HP:0001538 | Protuberant abdomen | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 8201479[PMID]_15128933[PMID]_4309963[PMID]_4357855[PMID]_9837822[PMID]_9295274[PMID]_30086869[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/289157
- This record as JSON: /data/d/289157.json