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Hypocalcemic vitamin D-resistant rickets

2 OMIM references -
1 associated gene
71 connected diseases
29 signs/symptoms

Disease	Type of connection
Precursor B-cell acute lymphoblastic leukemia
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Familial pancreatic carcinoma
Papillary or follicular thyroid carcinoma
Acute promyelocytic leukemia
Williams syndrome
Blepharophimosis-intellectual deficit syndrome, MKB type
FG syndrome type 1
X-linked intellectual deficit with marfanoid habitus
X-linked non-syndromic intellectual deficit
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Coffin-Siris syndrome
Familial rhabdoid tumor
Alopecia universalis
Aneurysm - osteoarthritis syndrome
Atrichia with papular lesions
Autosomal agammaglobulinemia
Familial thoracic aortic aneurysm and aortic dissection
Marie Unna hereditary hypotrichosis
Chronic mucocutaneous candidiasis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Chronic myeloid leukemia
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Isolated delta-storage pool disease
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Berardinelli-Seip congenital lipodystrophy
Combined pituitary hormone deficiencies, genetic forms
Essential thrombocythemia
Familial retinoblastoma
Giant cell glioblastoma
Gliosarcoma
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Li-Fraumeni syndrome
Monosomy 13q14
Papilloma of choroid plexus
Unilateral retinoblastoma
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Fibrodysplasia ossificans progressiva
5q35 microduplication syndrome
Acute myeloid leukemia with CEBPA somatic mutations
Atypical hemolytic uremic syndrome with H factor anomaly
Autosomal recessive nonsyndromic intellectual deficit
Beckwith-Wiedemann syndrome due to NSD1 mutation
Burkitt lymphoma
Dense deposit disease
Familial drusen
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Hyperinsulinism due to HNF4A deficiency
Immunodeficiency with factor H anomaly
Immunoglobulin-mediated membranoproliferative glomerulonephritis
Inherited acute myeloid leukemia
Isolated polycystic liver disease
MODY syndrome
Multiple endocrine neoplasia type 1
Precursor T-cell acute lymphoblastic leukemia
Primary peritoneal carcinoma
Rhizomelic chondrodysplasia punctata type 2
Sotos syndrome
Weaver syndrome
Fraser syndrome
Distal 22q11.2 microdeletion syndrome
Goldmann-Favre syndrome
Retinitis pigmentosa

Synonym(s): - HVDRR - Hereditary vitamin D-resistant rickets - VDDR II - VDRR II - Vitamin D-dependent rickets type II - Vitamin D-resistant rickets type II

Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		External references: 2 OMIM references - No MeSH references

Gene symbol	UniProt reference	OMIM reference
VDR	P11473	601769

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