BDPLT19
MCID: BLD127
MIFTS: 25

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 57 73
Platelet-Type Bleeding Disorder 19 12 29 6 15
Bdplt19 57 12 75
Severe Autosomal Recessive Macrothrombocytopenia 12 59
Bleeding Disorder, Platelet-Type 19 75
Bleeding Disorder, Platelet Type 19 40

Characteristics:

Orphanet epidemiological data:

59
severe autosomal recessive macrothrombocytopenia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
bleeding disorder, platelet-type, 19:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616176
Disease Ontology 12 DOID:0111048
ICD10 33 D69.4
Orphanet 59 ORPHA438207
ICD10 via Orphanet 34 D69.4
UMLS 73 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 anemia 32 HP:0001903
2 spontaneous hematomas 32 HP:0007420
3 epistaxis 32 HP:0000421
4 menorrhagia 32 HP:0000132
5 macrothrombocytopenia 32 HP:0040185

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 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 29 PRKACG

Anatomical Context for Bleeding Disorder, Platelet-Type, 19

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

41
Bone

Publications for Bleeding Disorder, Platelet-Type, 19

Variations for Bleeding Disorder, Platelet-Type, 19

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

75
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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