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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
1 associated gene
29 signs/symptoms
Rubinstein-Taybi syndrome due to CREBBP mutations
Hypocalcemic vitamin D-resistant rickets

CREBBP VDR


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CREBBP
(0.73)
VDR



Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to CREBBP mutations
CREBBP
Hypocalcemic vitamin D-resistant rickets
VDR



Rubinstein-Taybi syndrome due to CREBBP mutations
Hypocalcemic vitamin D-resistant rickets

Synonym(s):
(no synonyms)

Synonym(s):
- HVDRR
- Hereditary vitamin D-resistant rickets
- VDDR II
- VDRR II
- Vitamin D-dependent rickets type II
- Vitamin D-resistant rickets type II

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
No MeSH references

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


Rubinstein-Taybi syndrome due to CREBBP mutations

(no data available)