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 57 13
Paris-Trousseau Thrombocytopenia 53 59 29 73
Thrombocytopenia Paris-Trousseau Type 53 73
Tcpt 57 53
Jacobsen Distal 11q Deletion Syndrome 73
Chromosome 11q23 Deletion Syndrome 57
Paris-Trousseau Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
paris-trousseau thrombocytopenia
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
thrombocytopenia, paris-trousseau type:
Inheritance sporadic


Classifications:



External Ids:

OMIM 57 188025
Orphanet 59 ORPHA851
MESH via Orphanet 45 C538617
UMLS via Orphanet 74 C1861178 C1956093
ICD10 via Orphanet 34 D69.4
MedGen 42 C1861178

Summaries for Thrombocytopenia, Paris-Trousseau Type

NIH Rare Diseases : 53 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 thrombocytopenia, 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 and bone marrow, and related phenotypes are intellectual disability and clinodactyly

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 thrombocytopenia 10.2
3 cholera 10.1

Symptoms & Phenotypes for Thrombocytopenia, Paris-Trousseau Type

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
clinodactyly

Head And Neck Face:
micrognathia

Abdomen Gastrointestinal:
pyloric stenosis

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
Head And Neck Head:
trigonocephaly

Laboratory Abnormalities:
chromosome 11q23.3 deletion


Clinical features from OMIM:

188025

Human phenotypes related to Thrombocytopenia, Paris-Trousseau Type:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 Frequent (79-30%) HP:0001249
2 clinodactyly 32 HP:0030084
3 ptosis 32 HP:0000508
4 abnormality of the cardiovascular system 59 Frequent (79-30%)
5 micrognathia 32 HP:0000347
6 thrombocytopenia 32 HP:0001873
7 prolonged bleeding time 32 HP:0003010
8 pyloric stenosis 32 HP:0002021
9 trigonocephaly 32 HP:0000243
10 radial deviation of finger 32 HP:0009466

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 29

Anatomical Context for Thrombocytopenia, Paris-Trousseau Type

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

41
Bone, 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 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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