Thrombocytopenia 1
- Synonyms
- THROMBOCYTOPENIA, X-LINKED, 1; Thrombocytopenia, X-linked; X-linked thrombocytopenia with normal platelets
- Modes of inheritance
- X-linked recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- References
- Chapter Notes
- Authors:
- Sharat Chandra
- Lucas Bronicki
- Chinmayee B Nagaraj
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (68 available)
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Congenital thrombocytopenia
Congenital thrombocytopenia
- MedGen UID: 124422
- Concept ID: C0272278
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Decreased mean platelet volume
Decreased mean platelet volume
- MedGen UID: 853132
- Concept ID: C1096368
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Epistaxis
Epistaxis
- MedGen UID: 4996
- Concept ID: C0014591
- Finding: Pathologic Function
Abnormality of blood and blood-forming tissues
- Intermittent thrombocytopenia
Intermittent thrombocytopenia
- MedGen UID: 374151
- Concept ID: C1839167
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Congenital thrombocytopenia
- Abnormality of the cardiovascular system
- Joint hemorrhage
Joint hemorrhage
- MedGen UID: 5479
- Concept ID: C0018924
- Finding: Pathologic Function
Abnormality of the cardiovascular system
- Joint hemorrhage
- Abnormality of the immune system
- Eczematoid dermatitis
Eczematoid dermatitis
- MedGen UID: 3968
- Concept ID: C0013595
- Finding: Disease or Syndrome
Abnormality of the immune system
- Increased circulating IgA level
Increased circulating IgA level
- MedGen UID: 66800
- Concept ID: C0239984
- Finding: Finding
Abnormality of the immune system
- Increased circulating IgE level
Increased circulating IgE level
- MedGen UID: 116018
- Concept ID: C0236175
- Finding: Finding
Abnormality of the immune system
- Eczematoid dermatitis
- Abnormality of the integument
- Bruising susceptibility
Bruising susceptibility
- MedGen UID: 140849
- Concept ID: C0423798
- Finding: Finding
Abnormality of the integument
- Petechiae
Petechiae
- MedGen UID: 10680
- Concept ID: C0031256
- Finding: Disease or Syndrome
Abnormality of the integument
- Bruising susceptibility
- Abnormality of the musculoskeletal system
- Abnormality of the musculature
Abnormality of the musculature
- MedGen UID: 867380
- Concept ID: C4021745
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Abnormality of the musculature
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