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Hypocalcemic vitamin D-resistant rickets
2 OMIM references -
1 associated gene
29 signs/symptoms
PROTEIN INTERACTIONS: 1
Li-Fraumeni syndrome
3 OMIM references -
2 associated genes
16 signs/symptoms
Hypocalcemic vitamin D-resistant rickets
Li-Fraumeni syndrome

VDR
(UniProt - OMIM)
 CHEK2
(UniProt - OMIM)
TP53
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
VDR
(0.75)
TP53


Citations in the biomedical literature:


Hypocalcemic vitamin D-resistant rickets
VDR
Li-Fraumeni syndrome
CHEK2 TP53



Hypocalcemic vitamin D-resistant rickets
Li-Fraumeni syndrome

Synonym(s):
- HVDRR
- Hereditary vitamin D-resistant rickets
- VDDR II
- VDRR II
- Vitamin D-dependent rickets type II
- Vitamin D-resistant rickets type II
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
External references:
3 OMIM references -
1 MeSH reference: D016864
Hypocalcemic vitamin D-resistant rickets
Li-Fraumeni syndrome

Very frequent
- Anomalies of bones / skeletal anomalies
- Autosomal recessive inheritance
- Bone cyst
- Bone pain
- Hyperparathyroidy
- Hypocalcemia
- Hypophosphatemia
- Joint / articular deformation
- Mutiple fractures / bone fragility
- Osteolysis / osteoclasia / bone destruction / erosions
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Rough trabeculation of bone

Frequent
- Abnormal fat distribution / lipodystrophy
- Abnormal gait
- Abnormal vertebral size / shape
- Alopecia
- Anomalies of chest / thorax / trunk
- Anomalies of skin, subcutaneous tissue and mucosae
- Dolichocephaly / scaphocephaly
- Genu varum
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Metaphyseal anomaly
- Premature lost of decidious teeth
- Short stature / dwarfism / nanism
- Urinary / renal lithiasis / kidney stones / nephritic colic

Occasional
- Anomalies of teeth and dentition
- Frontal bossing / prominent forehead
- Genu valgum
- Scoliosis


Very frequent
- Acute leukemia
- Autosomal dominant inheritance
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Breast neoplasm / tumor / carcinoma / cancer
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Colon neoplasm / tumor / carcinoma / cancer
- Cortical adrenal neoplasm / tumor / carcinoma / cancer
- Lymphoma
- Neoplasms / tumors
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Sarcoma
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma

Occasional
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Melanoma
- Oropharyngeal neoplasm / tumor / carcinoma / cancer