TCPT
MCID: THR101
MIFTS: 26

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 56 13
Paris-Trousseau Thrombocytopenia 52 58 29 6 71
Thrombocytopenia Paris-Trousseau Type 52 71
Tcpt 56 52
Jacobsen Distal 11q Deletion Syndrome 71
Chromosome 11q23 Deletion Syndrome 56
Paris-Trousseau Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
paris-trousseau thrombocytopenia
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
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:

31
thrombocytopenia, paris-trousseau type:
Inheritance sporadic


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis
Rare haematological diseases


External Ids:

OMIM 56 188025
MESH via Orphanet 44 C538617
ICD10 via Orphanet 33 D69.4
UMLS via Orphanet 72 C1861178 C1956093
Orphanet 58 ORPHA851
MedGen 41 C1956093
UMLS 71 C0795841 C1861178 C1956093

Summaries for Thrombocytopenia, Paris-Trousseau Type

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 851 Definition Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome 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 marrow and bone, and related phenotypes are intellectual disability and abnormality of the cardiovascular system

Wikipedia : 74 Paris-Trousseau syndrome (PTS) is an inherited disorder characterized by mild hemorrhagic tendency... more...

More information 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:

(showing 4, show less)
# Related Disease Score Top Affiliating Genes
1 jacobsen syndrome 12.1
2 thrombocytopenia 10.4
3 alacrima, achalasia, and mental retardation syndrome 10.2
4 bleeding disorder, platelet-type, 21 10.2

Symptoms & Phenotypes for Thrombocytopenia, Paris-Trousseau Type

Human phenotypes related to Thrombocytopenia, Paris-Trousseau Type:

58 31 (showing 10, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 abnormality of the cardiovascular system 58 31 frequent (33%) Frequent (79-30%) HP:0001626
3 micrognathia 31 HP:0000347
4 ptosis 31 HP:0000508
5 thrombocytopenia 31 HP:0001873
6 prolonged bleeding time 31 HP:0003010
7 pyloric stenosis 31 HP:0002021
8 trigonocephaly 31 HP:0000243
9 radial deviation of finger 31 HP:0009466
10 clinodactyly 31 HP:0030084

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Face:
micrognathia

Hematology:
thrombocytopenia
hemorrhagic diathesis, mild
increased bleeding time
giant platelet alpha granules (peripheral blood)
increased megakaryocytes (bone marrow)
more
Head And Neck Head:
trigonocephaly

Neurologic Central Nervous System:
mental retardation

Head And Neck Eyes:
ptosis

Abdomen Gastrointestinal:
pyloric stenosis

Skeletal Hands:
clinodactyly

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 29

Anatomical Context for Thrombocytopenia, Paris-Trousseau Type

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

40
Bone Marrow, Bone

Publications for Thrombocytopenia, Paris-Trousseau Type

Articles related to Thrombocytopenia, Paris-Trousseau Type:

(showing 9, show less)
# Title Authors PMID Year
1
FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia. 56
15232614 2004
2
Paris-Trousseau syndrome : clinical, hematological, molecular data of ten new cases. 56
14597985 2003
3
Paris-Trousseau syndrome platelets in a child with Jacobsen's syndrome. 56
11279643 2001
4
A new congenital dysmegakaryopoietic thrombocytopenia (Paris-Trousseau) associated with giant platelet alpha-granules and chromosome 11 deletion at 11q23. 56
7703487 1995
5
A novel genetic thrombocytopenia (Paris-Trousseau) associated with platelet inclusions, dysmegakaryopoiesis and chromosome deletion AT 11q23. 56
8019893 1993
6
Partial deletion of the long arm of chromosome 11 [del(11)(q23.3----qter)] with abnormal white matter. 56
2301470 1990
7
Paris-Trousseau thrombocytopenia is phenocopied by the autosomal recessive inheritance of a DNA-binding domain mutation in FLI1. 61
26316623 2015
8
[Paris-Trousseau thrombocytopenia: a new entity and a model for understanding megakaryocytopoiesis]. 61
9538465 1997
9
Megakaryocytes and platelets in alpha-granule disorders. 61
9154319 1997

Variations for Thrombocytopenia, Paris-Trousseau Type

ClinVar genetic disease variations for Thrombocytopenia, Paris-Trousseau Type:

6 (showing 1, show less) ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 covers 76 genes, none of which curated to show dosage sensitivity deletion Pathogenic 812909 11:124226940-134944477

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
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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