Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
- Synonyms
- PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 6
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
- Chapter Notes
- References
- Authors:
- Sharon A Savage
- Marena R Niewisch
- view full author information
Available tests
Clinical tests (1 available)
Molecular Genetics Tests
Clinical features
Help- Abnormal cellular phenotype
- Short telomere length
Short telomere length
- MedGen UID: 1627435
- Concept ID: C4531138
- Finding: Anatomical Abnormality
Abnormal cellular phenotype
- Short telomere length
- Abnormality of blood and blood-forming tissues
- Bone marrow hypocellularity
Bone marrow hypocellularity
- MedGen UID: 383749
- Concept ID: C1855710
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Pancytopenia
Pancytopenia
- MedGen UID: 18281
- Concept ID: C0030312
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Bone marrow hypocellularity
- Abnormality of head or neck
- Oral mucosa leukoplakia
Oral mucosa leukoplakia
- MedGen UID: 9738
- Concept ID: C0023532
- Finding: Neoplastic Process
Abnormality of head or neck
- Oral mucosa leukoplakia
- Abnormality of the immune system
- Abnormally low T cell receptor excision circle level
Abnormally low T cell receptor excision circle level
- MedGen UID: 1611921
- Concept ID: C4531052
- Finding: Finding
Abnormality of the immune system
- Decreased circulating antibody concentration
Decreased circulating antibody concentration
- MedGen UID: 892481
- Concept ID: C4048270
- Finding: Finding
Abnormality of the immune system
- Lymphopenia
Lymphopenia
- MedGen UID: 7418
- Concept ID: C0024312
- Finding: Disease or Syndrome
Abnormality of the immune system
- Abnormally low T cell receptor excision circle level
- Abnormality of the integument
- Nail dystrophy
Nail dystrophy
- MedGen UID: 66368
- Concept ID: C0221260
- Finding: Disease or Syndrome
Abnormality of the integument
- Premature graying of hair
Premature graying of hair
- MedGen UID: 75524
- Concept ID: C0263498
- Finding: Finding
Abnormality of the integument
- Reticular hyperpigmentation
Reticular hyperpigmentation
- MedGen UID: 338832
- Concept ID: C1851972
- Finding: Finding
Abnormality of the integument
- Nail dystrophy
- Abnormality of the respiratory system
- Pulmonary fibrosis
Pulmonary fibrosis
- MedGen UID: 11028
- Concept ID: C0034069
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Restrictive ventilatory defect
Restrictive ventilatory defect
- MedGen UID: 478856
- Concept ID: C3277226
- Finding: Finding
Abnormality of the respiratory system
- Pulmonary fibrosis
- Neoplasm
- Myelodysplasia
Myelodysplasia
- MedGen UID: 10231
- Concept ID: C0026985
- Finding: Congenital Abnormality
Neoplasm
- Myelodysplasia
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