Pseudovitamin D Deficiency Rickets malady

MalaCards: Pseudovitamin D Deficiency Rickets, also known as vitamin d-dependent rickets, type 1, is related to rickets and x-linked hypophosphatemia. An important gene associated with Pseudovitamin D Deficiency Rickets is CYP27B1 (cytochrome P450, family 27, subfamily B, polypeptide 1), and among its related pathways are Vitamin D2 (ergocalciferol) metabolism and Vitamin D2 (ergocalciferol) metabolism. The compounds Calcidiol and Corticotropin have been mentioned in the context of this disorder.

pseudovitamin d deficiency rickets 7 vitamin d-dependent rickets, type 1 43

Diseases related to pseudovitamin d deficiency rickets by text searches and GeneDecks gene sharing:

(show all 13)

id	Related Disease	Score	Top Affiliating Genes
1	rickets	34.4	CYP24A1, CYP27B1
2	x-linked hypophosphatemia	12.5	CYP27B1, CYP24A1
3	osteomalacia	12.4	CYP27B1, CYP24A1
4	basal cell carcinoma	12.3	CYP24A1, CYP27B1
5	rabies	12.3	CYP27B1, CYP24A1
6	arterial calcification	12.2	CYP27B1, CYP24A1
7	hypercalcemia	12.0	CYP27B1, CYP24A1
8	osteosarcoma	11.6	CYP4V2, CYP24A1, CYP27B1
9	vitamin d-dependent rickets type ii	11.2
10	alopecia	8.8
11	vitamin d-dependent rickets, type i	8.1
12	cerebrotendinous xanthomatosis	7.9
13	xanthomatosis	7.9

Approved drugs:

Drug clinical trials:

Articles related to pseudovitamin d deficiency rickets:

id	Title	Authors	Year	Affiliating Genes
1	Targeted inactivation of the 25-hydroxyvitamin D(3)-1(alpha)-hydroxylase gene (CYP27B1) creates an animal model of pseudovitamin D-deficiency rickets. (11416036)	Dardenne O.... St-Arnaud R.	2001	CYP27B1
2	Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages. (10320521)	Smith S.J.... Mawer E.B.	1999	CYP27B1
3	No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation. (10566658)	Kitanaka S.... Kato S.	1999	CYP27B1
4	Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets. (9486994)	Kitanaka S.... Kato S.	1998	CYP27B1
5	The 25-hydroxyvitamin D 1-alpha-hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR) disease locus. (9333115)	St-Arnaud R.... Glorieux F.H.	1997	CYP27B1
6	Human 25-hydroxyvitamin D 24-hydroxylase cytochrome P450 subunit maps to a different chromosomal location than that of pseudovitamin D- deficient rickets. (8266831)	Labuda M.... Glorieux F.H.	1993	CYP24A1

Genes related to pseudovitamin d deficiency rickets according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	CYP27B1	cytochrome P450, family 27, subfamily B, polypeptide 1	11.0	Publications
2	CYP4V2	cytochrome P450, family 4, subfamily V, polypeptide 2	11.0	Orthologs
3	CYP24A1	cytochrome P450, family 24, subfamily A, polypeptide 1	11.0	Publications

Pathways related to pseudovitamin d deficiency rickets according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Vitamin D2 (ergocalciferol) metabolism10	9.4	CYP24A1, CYP27B1
2	Vitamin D2 (ergocalciferol) metabolism41	9.3	CYP24A1, CYP27B1
3	Metabolism of lipids and lipoproteins38	9.3	CYP24A1, CYP27B1
4	Transcription_Role of VDR in regulation of genes involved in osteoporosis41	9.2	CYP27B1, CYP24A1
5	Transcription Role of VDR in regulation of genes involved in osteoporosis10	9.0	CYP24A1, CYP27B1

Compounds related to pseudovitamin d deficiency rickets according to GeneDecks:

(show all 14)

id	Compound	Score	Top Affiliating Genes
1	Calcidiol9 18 9	11.6	CYP27B1, CYP24A1
2	Corticotropin9 9	10.6	CYP24A1, CYP27B1
3	alfacalcidol32 9 9	11.6	CYP27B1, CYP24A1
4	Ergocalciferol9 18 9	11.6	CYP27B1, CYP24A1
5	paricalcitol32 9 9	11.5	CYP24A1, CYP27B1
6	24,25-dihydroxyvitamin d332	9.5	CYP24A1, CYP27B1
7	calcipotriol32 42 9 9	12.5	CYP27B1, CYP24A1
8	eb 108932	9.4	CYP27B1, CYP24A1
9	25-hydroxyvitamin d32	9.4	CYP27B1, CYP24A1
10	ketoconazole32 42 9 18 9	13.3	CYP27B1, CYP24A1
11	vitamin d32	9.3	CYP27B1, CYP24A1
12	1,25 dihydroxy vitamin d332	9.2	CYP27B1, CYP24A1
13	calcitriol32 42 9 18 9	13.0	CYP27B1, CYP24A1
14	Heme9 18 9	10.7	CYP4V2, CYP24A1, CYP27B1

Biological processes related to pseudovitamin d deficiency rickets according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	vitamin D catabolic process	GO:042369	9.4	CYP27B1, CYP24A1
2	vitamin D metabolic process	GO:042359	9.4	CYP27B1, CYP24A1
3	response to vitamin D	GO:033280	9.3	CYP27B1, CYP24A1
4	xenobiotic metabolic process	GO:006805	9.3	CYP27B1, CYP24A1
5	vitamin metabolic process	GO:006766	9.2	CYP27B1, CYP24A1
6	steroid metabolic process	GO:008202	9.0	CYP27B1, CYP24A1

Molecular functions related to pseudovitamin d deficiency rickets according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	electron carrier activity	GO:009055	8.5	CYP4V2, CYP24A1, CYP27B1
2	heme binding	GO:020037	8.4	CYP4V2, CYP24A1, CYP27B1
3	iron ion binding	GO:005506	8.2	CYP4V2, CYP24A1, CYP27B1