ODCs

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Hypocalcemic vitamin D-resistant rickets

2 OMIM references -
1 associated gene
29 signs/symptoms

PROTEIN INTERACTIONS: 1

Isolated polycystic liver disease

1 OMIM reference -
2 associated genes
14 signs/symptoms

Hypocalcemic vitamin D-resistant rickets

Isolated polycystic liver disease

VDR	(UniProt - OMIM)		PRKCSH	(UniProt - OMIM)
			SEC63	(UniProt - OMIM)


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

Citations in the biomedical literature:

Hypocalcemic vitamin D-resistant rickets		Isolated polycystic liver disease
	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): - ADPCLD - Autosomal dominant polycystic liver disease - PCLD

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare hepatic 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 / 100 000 Average age onset: adulthood Average age of death: normal Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536330

Hypocalcemic vitamin D-resistant rickets		Isolated polycystic liver disease
	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 - Autosomal dominant inheritance - Hepatomegaly / liver enlargement (excluding storage disease) - Polycystic liver disease / hepatic cysts Frequent - Polycystic kidneys Occasional - Acute abdominal pain / colic - Arterial aneurism (excluding aorta) - Early death / lethality - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia - Hepatitis / icterus / cholestasis - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Structural anomalies of the pancreas - Structural anomalies of the respiratory system and diaphragm