Vitamin D-dependent rickets, type 2A
Vitamin D-dependent rickets, type 2A
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.
Also known as hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor with alopecia, rickets, vitamin D-resistant, type IIA, VDR vitamin D-dependent rickets, type 2, vitamin D dependent rickets 2a, vitamin D receptor deficiency rickets, vitamin d-dependent rickets type II with alopecia, vitamin D-dependent rickets, type 2 caused by mutation in VDR, vitamin D-dependent rickets, type 2A — per MONDO
Also identified as
- DOID 0080884 per MONDO
- MESH C562794 per MONDO
- NCIT C131075 per MONDO
- OMIM 277440 per MONDO
- SCTID 237894002 per MONDO
- UMLS C0342646 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Bone element | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Bone element | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Connective tissue | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Musculoskeletal system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Musculoskeletal system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |