BDPLT19
MCID: BLD127
MIFTS: 23

Bleeding Disorder, Platelet-Type, 19 (BDPLT19)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Bleeding Disorder, Platelet-Type, 19

MalaCards integrated aliases for Bleeding Disorder, Platelet-Type, 19:

Name: Bleeding Disorder, Platelet-Type, 19 56 71
Platelet-Type Bleeding Disorder 19 12 29 6 15
Bdplt19 56 12 73
Severe Autosomal Recessive Macrothrombocytopenia 12 58
Bleeding Disorder, Platelet-Type 19 73
Bleeding Disorder, Platelet Type 19 39

Characteristics:

Orphanet epidemiological data:

58
severe autosomal recessive macrothrombocytopenia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
one consanguineous family of indian descent has been reported (last curated january 2015)


HPO:

31
bleeding disorder, platelet-type, 19:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0111048
OMIM 56 616176
OMIM Phenotypic Series 56 PS231200
ICD10 32 D69.4
ICD10 via Orphanet 33 D69.4
Orphanet 58 ORPHA438207
UMLS 71 C4015405

Summaries for Bleeding Disorder, Platelet-Type, 19

Disease Ontology : 12 An inherited blood coagulation disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has material basis in homozygous mutation in the PRKACG gene on chromosome 9q21.

MalaCards based summary : Bleeding Disorder, Platelet-Type, 19, is also known as platelet-type bleeding disorder 19. An important gene associated with Bleeding Disorder, Platelet-Type, 19 is PRKACG (Protein Kinase CAMP-Activated Catalytic Subunit Gamma), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and PAK Pathway. Related phenotypes are anemia and epistaxis

UniProtKB/Swiss-Prot : 73 Bleeding disorder, platelet-type 19: A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia.

More information from OMIM: 616176 PS231200

Related Diseases for Bleeding Disorder, Platelet-Type, 19

Symptoms & Phenotypes for Bleeding Disorder, Platelet-Type, 19

Human phenotypes related to Bleeding Disorder, Platelet-Type, 19:

31
# Description HPO Frequency HPO Source Accession
1 anemia 31 HP:0001903
2 epistaxis 31 HP:0000421
3 spontaneous hematomas 31 HP:0007420
4 menorrhagia 31 HP:0000132
5 macrothrombocytopenia 31 HP:0040185

Symptoms via clinical synopsis from OMIM:

56
Hematology:
anemia
macrothrombocytopenia
bleeding tendency
platelets show defective activation

Skin Nails Hair Skin:
spontaneous hematomas

Head And Neck Nose:
epistaxis

Genitourinary Internal Genitalia Female:
menorrhagia

Clinical features from OMIM:

616176

GenomeRNAi Phenotypes related to Bleeding Disorder, Platelet-Type, 19 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 8.62 PRKACG
2 Decreased cell migration GR00055-A-3 8.62 FLNA

Drugs & Therapeutics for Bleeding Disorder, Platelet-Type, 19

Search Clinical Trials , NIH Clinical Center for Bleeding Disorder, Platelet-Type, 19

Genetic Tests for Bleeding Disorder, Platelet-Type, 19

Genetic tests related to Bleeding Disorder, Platelet-Type, 19:

# Genetic test Affiliating Genes
1 Platelet-Type Bleeding Disorder 19 29 PRKACG

Anatomical Context for Bleeding Disorder, Platelet-Type, 19

Publications for Bleeding Disorder, Platelet-Type, 19

Articles related to Bleeding Disorder, Platelet-Type, 19:

# Title Authors PMID Year
1
A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene. 61 6 56
25061177 2014

Variations for Bleeding Disorder, Platelet-Type, 19

ClinVar genetic disease variations for Bleeding Disorder, Platelet-Type, 19:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRKACG NM_002732.3(PRKACG):c.222C>G (p.Ile74Met)SNV Pathogenic 162394 rs724159972 9:71628787-71628787 9:69013871-69013871

UniProtKB/Swiss-Prot genetic disease variations for Bleeding Disorder, Platelet-Type, 19:

73
# Symbol AA change Variation ID SNP ID
1 PRKACG p.Ile74Met VAR_072672 rs724159972

Expression for Bleeding Disorder, Platelet-Type, 19

Search GEO for disease gene expression data for Bleeding Disorder, Platelet-Type, 19.

Pathways for Bleeding Disorder, Platelet-Type, 19

Pathways related to Bleeding Disorder, Platelet-Type, 19 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.45 PRKACG FLNA
2
Show member pathways
12.39 PRKACG FLNA
3 11.92 PRKACG FLNA
4
Show member pathways
11.58 PRKACG FLNA
5 11.27 PRKACG FLNA
6
Show member pathways
10.84 PRKACG FLNA

GO Terms for Bleeding Disorder, Platelet-Type, 19

Sources for Bleeding Disorder, Platelet-Type, 19

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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