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Hypocalcemic vitamin D-resistant rickets

2 OMIM references -
1 associated gene
29 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Weaver syndrome

1 OMIM reference -
2 associated genes
37 signs/symptoms

Hypocalcemic vitamin D-resistant rickets

Weaver syndrome

VDR	(UniProt - OMIM)		EZH2	(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		Weaver 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): - Camptodactyly - overgrowth - unusual facies

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic 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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536687


COMMON SIGNS	- Metaphyseal anomaly - Scoliosis

Hypocalcemic vitamin D-resistant rickets		Weaver 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 - 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		Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Advanced bone age - Broad forehead - Hypertelorism - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Long philtrum - Long / large ear - Loose skin / skin relaxation / excess skin / creases - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Tall stature / gigantism / growth acceleration - Thin / hypoplastic toenails - Thin / hypoplastic / hyperconvex fingernails Frequent - Broad foot - Broad / bifid thumb - Camptodactyly of fingers - Failure to thrive / difficulties for feeding in infancy / growth delay - Fine hair - Inguinal / inguinoscrotal / crural hernia - Large hand - Philtrum deeply grooved - Restricted joint mobility / joint stiffness / ankylosis - Round face Occasional - Autosomal dominant inheritance - Congenital cardiac anomaly / malformation / cardiopathy - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Hyperextensible joints / articular hyperlaxity - Micropenis / small penis / agenesis - Pes cavus - Syndactyly of fingers / interdigital palm - Talipes-varus / metatarsal varus - Undescended / ectopic testes / cryptorchidia / unfixed testes - Wide space between 1st-2nd toes