Vitamin D hydroxylation-deficient rickets, type 1b

Preferred Label : Vitamin D hydroxylation-deficient rickets, type 1b;

Symbol : VDDR1B;

CISMeF acronym : VDDR1B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 25-hydroxyvitamin d3 deficiency, selective; Vitamin D-dependent rickets, type 1b; Pseudovitamin d3 deficiency rickets due to 25-hydroxylase deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the vitamin D 25-hydroxylase gene (CYP2R1, 608713.0001);

Laboratory abnormalities : Low-to-normal serum calcium; Hypophosphatemia; Increased alkaline phosphatase; Normal serum 1,25-dihydroxyvitamin D3; Decreased serum 25-hydroxyvitamin D;

Prefixed ID : #600081;

Details

Origin ID

600081;

UMLS CUI

C1838657;

Automatic exact mappings (from CISMeF team)
- Hypocalcemic vitamin D-dependent rickets [ORDO Disease]
Currated CISMeF NLP mapping
- Vitamin D 25-Hydroxylase Deficiency [NCIt concept]
- vitamin D Hydroxylation-Deficient rickets, type 1B [MeSH concept]
- vitamin D Hydroxylation-Deficient rickets, type 1B [MeSH Supplementary Concept]
DO Cross reference
- rickets [DO Concept]
Genes related to phenotype
- Cytochrome p450, subfamily iir, polypeptide 1 [OMIM gene]
HPO term(s)
- 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]
- Curvatures of the femur, tibia, fibula [HPO term]
- Deformed rib cage [HPO term]
- Delayed epiphyseal ossification [HPO term]
- Difficulty standing [HPO term]
- Difficulty walking [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Enlargement and bulging of the costochondral junction [HPO term]
- Enlargement of the ankles [HPO term]
- Enlargement of the costochondral junction [HPO term]
- Enlargement of the wrists [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]
- Hypophosphatemia [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Metaphyseal irregularity [HPO term]
- Muscle weakness [HPO term]
- Posterior flattening of the skull [HPO term]
- Recurrent fractures [HPO term]
- Rickets [HPO term]
- Sparse bone trabeculae [HPO term]
- Thin bony cortex [HPO term]
- Tibial bowing [HPO term]
- Widely patent fontanelles and sutures [HPO term]
ORDO concept(s)
- Hypocalcemic vitamin D-dependent rickets [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Vitamin D 25-Hydroxylase Deficiency [NCIt concept]
- vitamin D Hydroxylation-Deficient rickets, type 1B [MeSH Supplementary Concept]
- vitamin D Hydroxylation-Deficient rickets, type 1B [MeSH concept]

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