Vitamin D-dependent rickets, type 2a

Preferred Label : Vitamin D-dependent rickets, type 2a;

Symbol : VDDR2A;

CISMeF acronym : VDDR2A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Rickets, hereditary vitamin D-resistant; Pseudovitamin D-deficiency, type iia; Vitamin D-dependent rickets, type 2a, with or without alopecia; Hypocalcemic vitamin D-resistant rickets; Rickets-alopecia syndrome; Vitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol; HVDRR; Pddr iia; Generalized resistance to 1,25-dihydroxyvitamin D;

Description : Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the vitamin D receptor gene (VDR, 601769.0001);

Laboratory abnormalities : Hypocalcemia; Hypophosphatemia; Increased serum alkaline phosphatase; Resistance to 1,25-dihydroxyvitamin D3; Increased serum parathyroid hormone; Increased serum 1,25-dihydroxyvitamin D3;

Prefixed ID : #277440;

Details

Origin ID

277440;

UMLS CUI

C0342646;

Automatic exact mappings (from CISMeF team)
- Hypocalcemic vitamin D-resistant rickets [ORDO Disease]
- familial hypophosphatemic rickets [MeSH Descriptor]
Currated CISMeF NLP mapping
- Vitamin D Dependent Rickets 2a [NCIt concept]
- Vitamin D-dependent rickets type II with alopecia (disorder) [SNOMED CT concept]
- vitamin D dependent rickets type II with alopecia [Disease (Nov.)]
- vitamin D-Dependent rickets, type 2A [MeSH concept]
- vitamin D-Dependent rickets, type 2A [MeSH Supplementary Concept]
DO Cross reference
- rickets [DO Concept]
Genes related to phenotype
- Vitamin D receptor [OMIM gene]
HPO term(s)
- Abdominal wall muscle weakness [HPO term]
- Abnormality of the skin [HPO term]
- Alopecia universalis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone pain [HPO term]
- Bowing of the legs [HPO term]
- Bulging epiphyses [HPO term]
- Bulging of the costochondral junction [HPO term]
- Carious teeth [HPO term]
- Curvatures of the femur, tibia, fibula [HPO term]
- Deformed rib cage [HPO term]
- Delayed epiphyseal ossification [HPO term]
- Delayed eruption of teeth [HPO term]
- Difficulty standing [HPO term]
- Difficulty walking [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Elevated circulating parathyroid hormone level [HPO term]
- Enamel hypoplasia [HPO term]
- Enlargement of the ankles [HPO term]
- Enlargement of the wrists [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Femoral bowing [HPO term]
- Fibular bowing [HPO term]
- Flat occiput [HPO term]
- Frayed, irregular metaphyses [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- High serum calcitriol [HPO term]
- Histological abnormality of the skin [HPO term]
- Hypocalcemic seizures [HPO term]
- Hypophosphatemia [HPO term]
- Hypotonia [HPO term]
- Increased serum 1,25-dihydroxyvitamin D3 [HPO term]
- Infantile onset [HPO term]
- Irritability [HPO term]
- Metaphyseal irregularity [HPO term]
- Motor delay [HPO term]
- Neonatal onset [HPO term]
- Posterior flattening of the skull [HPO term]
- Protuberant abdomen [HPO term]
- Protuberant abdomen due to muscle weakness [HPO term]
- Recurrent fractures [HPO term]
- Rickets [HPO term]
- Secondary hyperparathyroidism [HPO term]
- Sparse bone trabeculae [HPO term]
- Subperiosteal bone resorption [HPO term]
- Thin bony cortex [HPO term]
- Tibial bowing [HPO term]
- Wide nasal bridge [HPO term]
- Widely patent fontanelles and sutures [HPO term]
- alopecia, complete, in majority of patients [HPO term]
ORDO concept(s)
- Hypocalcemic vitamin D-resistant rickets [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Vitamin D Dependent Rickets 2a [NCIt concept]
- Vitamin D-dependent rickets type II with alopecia (disorder) [SNOMED CT concept]
- vitamin D dependent rickets type II with alopecia [Disease (Nov.)]
- vitamin D-Dependent rickets, type 2A [MeSH Supplementary Concept]
- vitamin D-Dependent rickets, type 2A [MeSH concept]

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