Cytoscape Web
Click node...

Hypocalcemic vitamin D-resistant rickets
2 OMIM references -
1 associated gene
29 signs/symptoms
PROTEIN INTERACTIONS: 1
Burkitt lymphoma
1 OMIM reference -
1 associated gene
No signs/symptoms info
Hypocalcemic vitamin D-resistant rickets
Burkitt lymphoma

VDR
(UniProt - OMIM)
 MYC
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
VDR
(0.63)
MYC


Citations in the biomedical literature:


Hypocalcemic vitamin D-resistant rickets
VDR
Burkitt lymphoma
MYC



Hypocalcemic vitamin D-resistant rickets
Burkitt lymphoma

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):
- Small non-cleaved cell lymphoma
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare hematologic 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: variable
Average age of death: any age
Type of inheritance: sporadic
External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
2 MeSH references: D002051 / D008228
Hypocalcemic vitamin D-resistant rickets

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


Burkitt lymphoma

(no data available)