TCPT
MCID: THR101
MIFTS: 25

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 72
Thrombocytopenia Paris-Trousseau Type 53 72
Tcpt 57 53
Jacobsen Distal 11q Deletion Syndrome 72
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
MESH via Orphanet 45 C538617
ICD10 via Orphanet 34 D69.4
UMLS via Orphanet 73 C1861178 C1956093
Orphanet 59 ORPHA851
MedGen 42 C1956093
UMLS 72 C0795841 C1861178 C1956093

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: 851DefinitionParis-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 and bone marrow, and related phenotypes are intellectual disability and abnormality of the cardiovascular system

Wikipedia : 75 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:

# 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:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
2 abnormality of the cardiovascular system 59 32 frequent (33%) Frequent (79-30%) HP:0001626
3 clinodactyly 32 HP:0030084
4 ptosis 32 HP:0000508
5 micrognathia 32 HP:0000347
6 thrombocytopenia 32 HP:0001873
7 trigonocephaly 32 HP:0000243
8 prolonged bleeding time 32 HP:0003010
9 pyloric stenosis 32 HP:0002021
10 radial deviation of finger 32 HP:0009466

Symptoms via clinical synopsis from OMIM:

57
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 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 PMID Year
1
FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia. 8
15232614 2004
2
Paris-Trousseau syndrome : clinical, hematological, molecular data of ten new cases. 8
14597985 2003
3
Paris-Trousseau syndrome platelets in a child with Jacobsen's syndrome. 8
11279643 2001
4
A new congenital dysmegakaryopoietic thrombocytopenia (Paris-Trousseau) associated with giant platelet alpha-granules and chromosome 11 deletion at 11q23. 8
7703487 1995
5
A novel genetic thrombocytopenia (Paris-Trousseau) associated with platelet inclusions, dysmegakaryopoiesis and chromosome deletion AT 11q23. 8
8019893 1993
6
Partial deletion of the long arm of chromosome 11 [del(11)(q23.3----qter)] with abnormal white matter. 8
2301470 1990
7
Paris-Trousseau thrombocytopenia is phenocopied by the autosomal recessive inheritance of a DNA-binding domain mutation in FLI1. 38
26316623 2015
8
[Paris-Trousseau thrombocytopenia: a new entity and a model for understanding megakaryocytopoiesis]. 38
9538465 1997
9
Megakaryocytes and platelets in alpha-granule disorders. 38
9154319 1997

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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