BDPLT19
MCID: BLD127
MIFTS: 24

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 58 74
Platelet-Type Bleeding Disorder 19 12 30 6 15
Bdplt19 58 12 76
Severe Autosomal Recessive Macrothrombocytopenia 12 60
Bleeding Disorder, Platelet-Type 19 76
Bleeding Disorder, Platelet Type 19 41

Characteristics:

Orphanet epidemiological data:

60
severe autosomal recessive macrothrombocytopenia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
bleeding disorder, platelet-type, 19:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111048
OMIM 58 616176
ICD10 34 D69.4
ICD10 via Orphanet 35 D69.4
Orphanet 60 ORPHA438207
UMLS 74 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. Affiliated tissues include bone, and related phenotypes are anemia and spontaneous hematomas

UniProtKB/Swiss-Prot : 76 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.

Description from OMIM: 616176

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:

33
# Description HPO Frequency HPO Source Accession
1 anemia 33 HP:0001903
2 spontaneous hematomas 33 HP:0007420
3 epistaxis 33 HP:0000421
4 menorrhagia 33 HP:0000132
5 macrothrombocytopenia 33 HP:0040185

Symptoms via clinical synopsis from OMIM:

58
Hematology:
anemia
macrothrombocytopenia
bleeding tendency
platelets show defective activation

Head And Neck Nose:
epistaxis

Skin Nails Hair Skin:
spontaneous hematomas

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 8.62 FLNA PRKACG

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 30 PRKACG

Anatomical Context for Bleeding Disorder, Platelet-Type, 19

MalaCards organs/tissues related to Bleeding Disorder, Platelet-Type, 19:

42
Bone

Publications for Bleeding Disorder, Platelet-Type, 19

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

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

Variations for Bleeding Disorder, Platelet-Type, 19

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

76
# Symbol AA change Variation ID SNP ID
1 PRKACG p.Ile74Met VAR_072672 rs724159972

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PRKACG NM_002732.3(PRKACG): c.222C> G (p.Ile74Met) single nucleotide variant Pathogenic rs724159972 GRCh37 Chromosome 9, 71628787: 71628787
2 PRKACG NM_002732.3(PRKACG): c.222C> G (p.Ile74Met) single nucleotide variant Pathogenic rs724159972 GRCh38 Chromosome 9, 69013871: 69013871

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

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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