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Hypocalcemic vitamin D-resistant rickets
2 OMIM references -
1 associated gene
29 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6
Sotos syndrome
2 OMIM references -
2 associated genes
47 signs/symptoms
Hypocalcemic vitamin D-resistant rickets
Sotos syndrome

VDR
(UniProt - OMIM)
 NFIX
(UniProt - OMIM)
NSD1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
VDR
(0.63)
NSD1


Citations in the biomedical literature:


Hypocalcemic vitamin D-resistant rickets
VDR
Sotos syndrome
NFIX NSD1



Hypocalcemic vitamin D-resistant rickets
Sotos 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):
- Cerebral gigantism
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare oncologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D058495
COMMON
SIGNS 		- Dolichocephaly / scaphocephaly
- Frontal bossing / prominent forehead
- Genu valgum
- Genu varum
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Scoliosis

Hypocalcemic vitamin D-resistant rickets
Sotos 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
- Metaphyseal anomaly
- Premature lost of decidious teeth
- Short stature / dwarfism / nanism
- Urinary / renal lithiasis / kidney stones / nephritic colic

Occasional
- Anomalies of teeth and dentition


Very frequent
- Advanced bone age
- Autosomal dominant inheritance
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Flattened nose
- High forehead
- High vaulted / narrow palate
- Hypertelorism
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long / large ear
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Prognathism / prognathia
- Tall stature / gigantism / growth acceleration

Frequent
- Anteverted nares / nostrils
- Conductive deafness / hearing loss
- Corpus callosum / septum pellucidum total / partial agenesis
- Dilated cerebral ventricles without hydrocephaly
- Generalized obesity
- Hypoglycemia
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Precocious puberty
- Premature eruption of teeth / natal teeth

Occasional
- Abnormal fingernails
- Cardiac septal defect
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Coarse face
- Craniostenosis / craniosynostosis / sutural synostosis
- EEG anomalies
- Hypereflexia
- Hypospadias / epispadias / bent penis
- Micrognathia / retrognathia / micrognathism / retrognathism
- Neoplasms / tumors
- Patent ductus arteriosus
- Polycystic kidneys
- Psychic / behavioural troubles
- Sacrococcygeal teratoma
- Seizures / epilepsy / absences / spasms / status epilepticus
- Strabismus / squint
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter