THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
PROC DEFICIENCY, AUTOSOMAL RECESSIVE
THPH4
Number of Symptoms 17
OrphanetNr:
OMIM Id: 612304
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0007902) Vitreous hemorrhage 9 / 7739
2
(HPO:0001263) Global developmental delay 853 / 7739
3
(HPO:0001250) Seizures 1245 / 7739
4
(HPO:0000979) Purpura 27 / 7739
5
(HPO:0002625) Deep venous thrombosis 10 / 7739
6
(HPO:0002638) Superficial thrombophlebitis 6 / 7739
7
(HPO:0100724) Hypercoagulability 15 / 7739
8
(HPO:0005543) Reduced protein C activity 4 / 7739
9
(HPO:0002204) Pulmonary embolism 26 / 7739
10
(OMIM) Neonatal purpura fulminans 2 / 7739
11
(OMIM) Plasma protein C deficiency 2 / 7739
12
(OMIM) Cerebral palsy, spastic 2 / 7739
13
(OMIM) Neonatal vitreous hemorrhages 1 / 7739
14
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
(OMIM) Periventricular hemorrhagic infarction 1 / 7739
16
(HPO:0003828) Variable expressivity 130 / 7739
17
(OMIM) Intraabdominal venous thrombosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal recessive protein C deficiency resulting from homozygous or compound heterozygous PROC mutations is a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia (Millar et al., 2000).
Clinical Description OMIM Branson et al. (1983) reported a newborn male infant with intractable purpura fulminans, which reflected massive subcutaneous thrombosis. His mother had heterozygous protein C deficiency. This was the first instance in which protein C deficiency was implicated in ...
Genotype-Phenotype Correlations OMIM Millar et al. (2000) found that plasma protein C activity levels ranged from 1 to 8% among 9 patients with severe recessive protein C deficiency, but there was not a clear correlation between residual enzyme activity and clinical ...
Molecular genetics OMIM Among 9 unrelated patients with severe autosomal recessive protein C deficiency, Millar et al. (2000) identified 13 different biallelic mutations, including 8 novel mutations (see, e.g., 612283.0004) in the PROC gene.