Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
Synonyms

PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
ID

http://purl.bioontology.org/ontology/OMIM/612304
altLabel

PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE

PROC DEFICIENCY, AUTOSOMAL RECESSIVE

THPH4
cui

C2676759
Gene Locus

2q13-q14
Gene Symbol

THPH4

PC

THPH3

PROC
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU033921

http://purl.bioontology.org/ontology/OMIM/MTHU037124

http://purl.bioontology.org/ontology/OMIM/MTHU015924

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU021374

http://purl.bioontology.org/ontology/OMIM/MTHU015929

http://purl.bioontology.org/ontology/OMIM/MTHU015932

http://purl.bioontology.org/ontology/OMIM/MTHU033922

http://purl.bioontology.org/ontology/OMIM/MTHU021373

http://purl.bioontology.org/ontology/OMIM/MTHU037123

http://purl.bioontology.org/ontology/OMIM/MTHU000242
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

612304
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
Scope Statement

May be lethal in infancy if untreated [MISCELLANEOUS]

See also autosomal dominant form (176860) [MISCELLANEOUS]

Caused by mutation in the protein C gene (PROC, 612283.0003) [MOLECULAR BASIS]

Variable severity [MISCELLANEOUS]

Occasional late-onset of symptoms with homozygosity (e.g. 612283.0005 protein C deficiency, homozygous) [MISCELLANEOUS]
tui

T047
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