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Traits
Traits linked to ADA
adenosine deaminase
The Human Phenotype Ontology links 71 traits to ADA, by body system: features seen in people with one of the gene's rare conditions.
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Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of the immune system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Inflammatory abnormality of the skin | Alati |
| Recurrent mucocutaneous candidiasis | Alati |
| Recurrent pneumonia | Alati |
| Severe combined immunodeficiency | Alati |
| Skin rash | Alati |
| Red scaly skin caused by inflammatory skin disease | Väga sageli (80–99%) |
| Abnormality of humoral immunity | Sageli (30–79%) |
| Allergy | Sageli (30–79%) |
| Anti-thyroid peroxidase antibody positivity | Sageli (30–79%) |
| Autoimmunity | Sageli (30–79%) |
| Pneumonia | Sageli (30–79%) |
| Recurrent opportunistic infections | Sageli (30–79%) |
| Infection in blood stream | Mõnikord (5–29%) |
| Absent specific antibody response | Pole registreeritud |
| Asthma | Pole registreeritud |
| Recurrent bacterial infections | Pole registreeritud |
| Recurrent fungal infections | Pole registreeritud |
| Recurrent viral infections | Pole registreeritud |
| Severe T-cell immunodeficiency | Pole registreeritud |
Abnormality of blood and blood-forming tissues
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Decreased blood lymphocyte number | Alati |
| High blood eosinophil count | Alati |
| Low B cell count | Alati |
| Reduced red cell adenosine deaminase level | Alati |
| Abnormal lymphocyte morphology | Väga sageli (80–99%) |
| Elevated white blood count | Sageli (30–79%) |
| Low T cell count | Sageli (30–79%) |
| Cancer of lymphatic system | Mõnikord (5–29%) |
| Low number of red blood cells or hemoglobin | Mõnikord (5–29%) |
| Autoimmune hemolytic anemia | Pole registreeritud |
| Autoimmune thrombocytopenia | Pole registreeritud |
| B-cell lymphoma | Pole registreeritud |
Abnormality of the cardiovascular system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Absent thymus | Alati |
| Swollen lymph nodes | Väga sageli (80–99%) |
| Absence of lymph node germinal center | Sageli (30–79%) |
| Absent tonsils | Sageli (30–79%) |
| Increased spleen size | Sageli (30–79%) |
| Pulmonic regurgitation | Sageli (30–79%) |
Abnormal cellular phenotype
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Impaired T cell function | Sageli (30–79%) |
| Increased circulating IgE concentration | Sageli (30–79%) |
| Decreased circulating IgA concentration | Pole registreeritud |
| Decreased circulating IgG2 concentration | Pole registreeritud |
| Decreased circulating IgM concentration | Pole registreeritud |
Abnormality of the integument
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Hair loss | Väga sageli (80–99%) |
| Dry skin | Sageli (30–79%) |
| Itching | Sageli (30–79%) |
| Thickened skin | Sageli (30–79%) |
Abnormality of the musculoskeletal system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Horizontal inferior border of scapula | Alati |
| Abnormal shape of pelvic girdle bone | Pole registreeritud |
| Anterior rib cupping | Pole registreeritud |
| Flattened vertebrae | Pole registreeritud |
Abnormality of head or neck
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Recurrent colds | Sageli (30–79%) |
| Sinus disease | Sageli (30–79%) |
| Sparse or absent eyebrows | Sageli (30–79%) |
Abnormality of limbs
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the wide portion of a long bone | Mõnikord (5–29%) |
| Short toe | Mõnikord (5–29%) |
| Growth arrest lines | Pole registreeritud |
Abnormality of the digestive system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Chronic diarrhea | Alati |
| Diarrhea | Alati |
| Enlarged liver | Väga sageli (80–99%) |
Abnormality of the endocrine system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Adrenal cortical sclerosis | Sageli (30–79%) |
| Thyroid gland inflammation | Mõnikord (5–29%) |
| Underactive thyroid | Mõnikord (5–29%) |
Laboratory abnormality
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Episodic fever | Alati |
| Fever | Sageli (30–79%) |
| Fluid retention | Sageli (30–79%) |
Abnormality of the genitourinary system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Nephrotic syndrome | Mõnikord (5–29%) |
| Diffuse mesangial sclerosis | Pole registreeritud |
Abnormality of prenatal development or birth
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Desquamation of skin soon after birth | Sageli (30–79%) |
Abnormality of the ear
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Recurrent middle ear infection | Sageli (30–79%) |
Abnormality of the nervous system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Motor delay | Alati |
Growth abnormality
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Faltering weight | Alati |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Allikas
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to ADA and how often each is seen. Find out more at hpo.jax.org.
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