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Traits
Traits linked to PTCRA
pre T cell antigen receptor alpha
The Human Phenotype Ontology links 71 traits to PTCRA, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Abnormally low T cell receptor excision circle level | Always |
| Cancer of lymphatic system | Always |
| Decreased blood leukocyte number | Always |
| Decreased class-switched memory B cell proportion | Always |
| Decreased naive CD4+ T cell proportion | Always |
| Decreased total CD4+ T cell proportion | Always |
| Erythroid dysplasia | Always |
| High lymphocyte count | Always |
| Low B cell count | Always |
| Low blood cell count | Always |
| Low blood neutrophil count | Always |
| Low number of red blood cells or hemoglobin | Always |
| Low platelet count | Always |
| Low T cell count | Always |
| Decreased blood lymphocyte number | Often (30–79%) |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Allergy | Always |
| Chronic tinea infection | Always |
| Decreased immune function | Always |
| Eczema | Always |
| Partial absence of specific antibody response to unconjugated pneumococcus polysaccharide | Always |
| Recurrent chest infections | Always |
| Recurrent infections | Always |
| Recurrent pneumonia | Always |
| Recurrent respiratory infections | Always |
| Recurrent sinus and lung infections | Always |
| Skin rash | Always |
| Susceptibility to herpesvirus | Always |
| Anti-thyroglobulin antibody positivity | Often (30–79%) |
| Anti-thyroid peroxidase antibody positivity | Often (30–79%) |
| Partial absence of specific antibody response to tetanus vaccine | Often (30–79%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Enlarged liver and spleen | Always |
| Follicular hyperplasia | Always |
| Increased spleen size | Always |
| Inflammation of the lymph nodes | Always |
| Portal hypertension | Always |
| Swollen lymph nodes in center of chest | Always |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Accumulation of fluid in the abdomen | Always |
| Anorexia | Always |
| Chronic diarrhea | Always |
| Duodenitis | Always |
| Jaundice | Always |
| Villous atrophy | Always |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Autism spectrum disorder | Always |
| Impaired heel-walking ability | Always |
| Impaired toe-walking ability | Always |
| Perianal anesthesia | Always |
| Peripheral nerve disease | Always |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Crackles | Always |
| Increased respiratory rate or depth of breathing | Always |
| Permanent enlargement of the airways of the lungs | Always |
| Respiratory failure | Always |
| Wet cough | Always |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Dry eye syndrome | Always |
| Pink eye | Always |
| Recurrent colds | Always |
| Sinus disease | Always |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Fever | Always |
| High liver enzymes | Always |
| Low albumin | Always |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Clubbing of fingers | Always |
| Hyporeflexia of lower limbs | Always |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Overactive thyroid | Always |
| Underactive thyroid | Always |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Lumbago | Always |
| Muscle weakness | Always |
Constitutional symptom
| Trait | How often it is seen |
|---|---|
| Fatigue | Always |
| Lack of energy and strength | Always |
Abnormal cellular phenotype
| Trait | How often it is seen |
|---|---|
| Panhypogammaglobulinemia | Always |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Urinary retention | Always |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Alopecia universalis | Always |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Weight loss | Always |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to PTCRA and how often each is seen. Find out more at hpo.jax.org.
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