TCPT
MCID: THR101
MIFTS: 24

Thrombocytopenia, Paris-Trousseau Type (TCPT)

Categories: Blood diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Thrombocytopenia, Paris-Trousseau Type

MalaCards integrated aliases for Thrombocytopenia, Paris-Trousseau Type:

Name: Thrombocytopenia, Paris-Trousseau Type 58 13
Paris-Trousseau Thrombocytopenia 54 60 30 74
Thrombocytopenia Paris-Trousseau Type 54 74
Tcpt 58 54
Jacobsen Distal 11q Deletion Syndrome 74
Chromosome 11q23 Deletion Syndrome 58
Paris-Trousseau Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
paris-trousseau thrombocytopenia
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
isolated cases

Miscellaneous:
paris-trousseau thrombocytopenia can occur in jacobsen syndrome in which similar platelet defects are accompanied by facial dysmorphism, cardiac defects, mental retardation, and deletion at 11q23


HPO:

33
thrombocytopenia, paris-trousseau type:
Inheritance sporadic


Classifications:



External Ids:

OMIM 58 188025
MESH via Orphanet 46 C538617
ICD10 via Orphanet 35 D69.4
UMLS via Orphanet 75 C1861178 C1956093
Orphanet 60 ORPHA851
MedGen 43 C1956093

Summaries for Thrombocytopenia, Paris-Trousseau Type

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 851Disease definitionParis-Trousseau thrombocytopenia (TCPT) is a contiguous genesyndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.Visit the Orphanet disease page for more resources.

MalaCards based summary : Thrombocytopenia, Paris-Trousseau Type, also known as paris-trousseau thrombocytopenia, is related to jacobsen syndrome and bleeding disorder, platelet-type, 21, and has symptoms including muscle spasticity An important gene associated with Thrombocytopenia, Paris-Trousseau Type is TCPT (Thrombocytopenia, Paris-Trousseau Type). Affiliated tissues include bone marrow, and related phenotypes are intellectual disability and abnormality of the cardiovascular system

Wikipedia : 77 Paris-Trousseau syndrome (PTS) is an inherited disorder characterized by mild hemorrhagic tendency... more...

Description from OMIM: 188025

Related Diseases for Thrombocytopenia, Paris-Trousseau Type

Diseases related to Thrombocytopenia, Paris-Trousseau Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 jacobsen syndrome 11.6
2 bleeding disorder, platelet-type, 21 10.2
3 thrombocytopenia 10.2
4 cholera 10.2

Symptoms & Phenotypes for Thrombocytopenia, Paris-Trousseau Type

Human phenotypes related to Thrombocytopenia, Paris-Trousseau Type:

60 33 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
2 abnormality of the cardiovascular system 60 33 frequent (33%) Frequent (79-30%) HP:0001626
3 clinodactyly 33 HP:0030084
4 ptosis 33 HP:0000508
5 micrognathia 33 HP:0000347
6 thrombocytopenia 33 HP:0001873
7 trigonocephaly 33 HP:0000243
8 prolonged bleeding time 33 HP:0003010
9 pyloric stenosis 33 HP:0002021
10 radial deviation of finger 33 HP:0009466

Symptoms via clinical synopsis from OMIM:

58
Skeletal Hands:
clinodactyly

Head And Neck Face:
micrognathia

Head And Neck Head:
trigonocephaly

Neurologic Central Nervous System:
mental retardation

Head And Neck Eyes:
ptosis

Hematology:
thrombocytopenia
hemorrhagic diathesis, mild
increased bleeding time
giant platelet alpha granules (peripheral blood)
increased megakaryocytes (bone marrow)
more
Abdomen Gastrointestinal:
pyloric stenosis

Laboratory Abnormalities:
chromosome 11q23.3 deletion

Clinical features from OMIM:

188025

UMLS symptoms related to Thrombocytopenia, Paris-Trousseau Type:


muscle spasticity

Drugs & Therapeutics for Thrombocytopenia, Paris-Trousseau Type

Search Clinical Trials , NIH Clinical Center for Thrombocytopenia, Paris-Trousseau Type

Genetic Tests for Thrombocytopenia, Paris-Trousseau Type

Genetic tests related to Thrombocytopenia, Paris-Trousseau Type:

# Genetic test Affiliating Genes
1 Paris-Trousseau Thrombocytopenia 30

Anatomical Context for Thrombocytopenia, Paris-Trousseau Type

MalaCards organs/tissues related to Thrombocytopenia, Paris-Trousseau Type:

42
Bone Marrow

Publications for Thrombocytopenia, Paris-Trousseau Type

Articles related to Thrombocytopenia, Paris-Trousseau Type:

# Title Authors Year
1
Paris-Trousseau thrombocytopenia is phenocopied by the autosomal recessive inheritance of a DNA-binding domain mutation in FLI1. ( 26316623 )
2015

Variations for Thrombocytopenia, Paris-Trousseau Type

Expression for Thrombocytopenia, Paris-Trousseau Type

Search GEO for disease gene expression data for Thrombocytopenia, Paris-Trousseau Type.

Pathways for Thrombocytopenia, Paris-Trousseau Type

GO Terms for Thrombocytopenia, Paris-Trousseau Type

Sources for Thrombocytopenia, Paris-Trousseau Type

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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