Details of Disease

General Information of Disease (ID: DISL11VX)

Disease Name Vitamin D-dependent rickets, type 2A
Synonyms
generalized resistance to 1,25-dihydroxyvitamin D; VDDR2A; rickets, hereditary vitamin D-resistant; Pddr 2A; Pseudovitamin D-deficiency, type 2A; hypocalcemic vitamin D-resistant rickets; vitamin D-dependent rickets, type 2A, with or without alopecia; rickets-alopecia syndrome; generalised resistance to 1,25-dihydroxyvitamin D; vitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol; vitamin D-dependent rickets, type 2A; vitamin d-dependent rickets type II with alopecia; hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor with alopecia; vitamin D-dependent rickets, type 2 caused by mutation in VDR; vitamin D dependent rickets 2a; rickets, vitamin D-resistant, type IIA; vitamin D receptor deficiency rickets; VDR vitamin D-dependent rickets, type 2
Definition
Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia.
Disease Hierarchy
DIS5A054: Abnormal mineralization disorder
DISZHFC3: Vitamin D-dependent rickets, type 2
DISL11VX: Vitamin D-dependent rickets, type 2A
Disease Identifiers
MONDO ID
MONDO_0010186
MESH ID
C562794
UMLS CUI
C0342646
OMIM ID
277440
MedGen ID
90989
SNOMED CT ID
237894002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
VDR OTFC7K35 Definitive Autosomal recessive [1]
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This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
VDR TTK59TV Strong Genetic Variation [2]
VDR TTK59TV Definitive Autosomal recessive [1]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
CYP27B1 DE3FYEM Limited Genetic Variation [3]
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References

1 Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness. J Clin Invest. 1997 Jan 15;99(2):297-304. doi: 10.1172/JCI119158.
2 NOVEL VDR MUTATIONS IN PATIENTS WITH VITAMIN D-DEPENDENT RICKETS TYPE 2A: A MILD DISEASE PHENOTYPE CAUSED BY A NOVEL CANONICAL SPLICE-SITE MUTATION.Endocr Pract. 2020 Jan;26(1):72-81. doi: 10.4158/EP-2019-0295. Epub 2019 Sep 26.
3 Is vitamin D hypothesis for schizophrenia valid? Independent segregation of psychosis in a family with vitamin-D-dependent rickets type IIA.Prog Neuropsychopharmacol Biol Psychiatry. 2004 Mar;28(2):255-66. doi: 10.1016/j.pnpbp.2003.10.002.