Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Jump to:
Preferred Name

HYPERCALCEMIA, INFANTILE, 1
Synonyms

HCINF1

HYPERCALCEMIA, IDIOPATHIC, OF INFANCY
ID

http://purl.bioontology.org/ontology/OMIM/143880
altLabel

HCINF1

HYPERCALCEMIA, IDIOPATHIC, OF INFANCY
cui

C0268080

C4310232
Gene Locus

20q13.2-q13.3
Gene Symbol

HCINF1

CYP24

CYP24A1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU003378

http://purl.bioontology.org/ontology/OMIM/MTHU005829

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU031025

http://purl.bioontology.org/ontology/OMIM/MTHU004026

http://purl.bioontology.org/ontology/OMIM/MTHU000177

http://purl.bioontology.org/ontology/OMIM/MTHU000225

http://purl.bioontology.org/ontology/OMIM/MTHU007103

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU005834

http://purl.bioontology.org/ontology/OMIM/MTHU036717

http://purl.bioontology.org/ontology/OMIM/MTHU036852
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

143880
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

HYPERCALCEMIA, INFANTILE, 1
Scope Statement

Most patients develop symptoms while on prophylactic vitamin D supplementation in infancy [MISCELLANEOUS]

Some patients may not present until adulthood [MISCELLANEOUS]

Caused by mutation in cytochrome P450, family 24, subfamily A, polypeptide-1 gene (CYP24A1, 126065.0001) [MOLECULAR BASIS]
tui

T047
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display