Mitochondria Phenome Knowledgebase

Gene Symbol CYP27B1
Ensembl ID ENSG00000111012 Entrez 1594
Gene Alias CP2B; CYP1; CYP1alpha; CYP27B; P450c1; PDDR; VDD1; VDDR; VDDRI; VDR Subcellular Locations Mitochondria Mitochondrial-inner-membrane
Map Position 12q13.1-q13.3 Subcell PMIDs 9428799
OMIM Gene 609506 Protein Complex
Swissprot ID O15528 Swissprot Description 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial precursor
OMIM Disease Vitamin D dependent rickets type 1 (VDDR1) [264700]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
CYP27B1 264700 Musculoskeletal-diseases leg bowing; skeletal deformities; genu varus; genu valgus; frontal bossing; rib cage deformities musculoskeletal 9415400 #9486994 9837822 10566658 12050193
CYP27B1 264700 Bone-diseases musculoskeletal #9415400 #9486994 #10566658 #12050193
CYP27B1 264700 Metabolic-bone-diseases osteopenia musculoskeletal 9415400 #9486994 #10566658 #12050193
CYP27B1 264700 Osteomalacia craniotabes; skull mineralization impaired musculoskeletal 10566658
CYP27B1 264700 Rickets pseudovitamin D deficiency; metaphyseal abnormalities; Radiography findings musculoskeletal 9415400 9486994 12050193
CYP27B1 264700 Spinal-diseases kyphosis musculoskeletal 10566658
CYP27B1 264700 Pathological-fractures pseudofractures musculoskeletal 10566658
CYP27B1 264700 Joint-diseases wrist enlargements; ankle enlargements; joint enargements musculoskeletal 9415400 9837822 10566658 12050193
CYP27B1 264700 Costochondral-junctions-abnormal enlargement; rachitic rosary musculoskeletal 9415400 9837822 10566658 12050193
CYP27B1 264700 Respiratory-tract-diseases respiratory #9415400 #9837822 #12050193
CYP27B1 264700 Lung-diseases respiratory #9837822
CYP27B1 264700 Pneumonia some infants developed pneumonia respiratory 9837822
CYP27B1 264700 Respiration-disorders respiratory #9415400 #9837822 #12050193
CYP27B1 264700 Respiratory-insufficiency respiratory distress; pneumonia; respiratory stridor respiratory 9415400 9837822 12050193
CYP27B1 264700 Nervous-system-diseases neurologic #9415400 #9486994 #9837822 #10566658 #12050193
CYP27B1 264700 Central-nervous-system-diseases neurologic #9486994 #9837822 #10566658 #12050193
CYP27B1 264700 Brain-diseases neurologic #9486994 #9837822 #10566658 #12050193
CYP27B1 264700 Seizures hypocalcemic seizures; convulsions neurologic 9486994 9837822 10566658 12050193
CYP27B1 264700 Neurologic-manifestations neurologic #9415400 #9486994 #9837822 #10566658 #12050193
CYP27B1 264700 Gait-disorders walking inability neurologic 9486994 10566658
CYP27B1 264700 Neurobehavioral-manifestations neurologic #9837822
CYP27B1 264700 Developmental-delay poor motor development; inability to sit crawl or stand neurologic 9415400 9837822 10566658
CYP27B1 264700 Irritability irritable; pain neurologic 9837822
CYP27B1 264700 Neuromuscular-manifestations neurologic #9415400 #9486994 #9837822 #10566658 #12050193
CYP27B1 264700 Fasciculations tetany; cramps; muscle twitching; twitchings neurologic 9486994 9837822 10566658 12050193
CYP27B1 264700 Muscle-hypotonia neurologic 9486994 9837822 12050193
CYP27B1 264700 Muscle-weakness neurologic 9415400 9486994
CYP27B1 264700 Muscular-atrophy muscle wasting neurologic 12050193
CYP27B1 264700 Metabolic-diseases metabolic #9415400 #9486994 #9837822 #12050193
CYP27B1 264700 Aminoaciduria generalized metabolic 9486994
CYP27B1 264700 Phosphorus-metabolism-disorders metabolic #9415400 #9486994 #9837822 #12050193
CYP27B1 264700 Hypophosphatemia metabolic 9415400 9486994 9837822 12050193
CYP27B1 264700 Water-electrolyte-imbalance metabolic #9415400 #9486994 #9837822 #12050193
CYP27B1 264700 Hypocalcemia calcium levels abnormal; mild hypocalcemia metabolic 9415400 9486994 9837822 12050193
CYP27B1 264700 Endocrine-system-diseases endocrinologic #9415400 #9486994 #9837822 #10566658 #12050193
CYP27B1 264700 Parathyroid-diseases endocrinologic #9415400 #9486994 #9837822 #10566658 #12050193
CYP27B1 264700 Hyperparathyroidism secondary hyperparathyroidism; parathyroid hormone levels abnormal endocrinologic 9415400 9486994 9837822 10566658 12050193
CYP27B1 264700 Growth-disorders miscellaneous #9415400 #9486994 #10566658 #12050193
CYP27B1 264700 Failure-to-thrive miscellaneous 9415400 10566658 12050193
CYP27B1 264700 Growth-deficiency short stature; growth failure miscellaneous 9415400 9486994
CYP27B1 264700 Tooth-abnormalities enamel defect; no deciduous teeth miscellaneous 9415400
CYP27B1 264700 Alkaline-phosphatase-abnormal elevated; serum miscellaneous 9415400 9837822 10566658 12050193
CYP27B1 264700 Vitamin-responsive 25 hydroxyvitamin D; vitamin D; high doses miscellaneous 9486994

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