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Traits
Traits linked to ALK
ALK receptor tyrosine kinase
The Human Phenotype Ontology links 68 traits to ALK, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Ganglioneuroma | Always |
| Cancer of early nerve cells | Very often (80–99%) |
| Nervous system cancer | Very often (80–99%) |
| Antalgic gait | Sometimes (5–29%) |
| Behavioral abnormality | Sometimes (5–29%) |
| Epilepsy | Sometimes (5–29%) |
| Headache | Sometimes (5–29%) |
| Irritability | Sometimes (5–29%) |
| Neurodevelopmental delay | Sometimes (5–29%) |
| Pressure on spinal cord | Sometimes (5–29%) |
| Rise in pressure inside skull | Sometimes (5–29%) |
| Too much cerebrospinal fluid in the brain | Sometimes (5–29%) |
| Ataxia | Rarely (1–4%) |
| Jerking | Rarely (1–4%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Abnormal skin pigmentation | Very often (80–99%) |
| Giant pigmented mole | Very often (80–99%) |
| Mole | Very often (80–99%) |
| Dry skin | Often (30–79%) |
| Lack of sweating | Often (30–79%) |
| Poor wound healing | Often (30–79%) |
| Anemic pallor | Sometimes (5–29%) |
| Cutaneous melanoma | Sometimes (5–29%) |
| Excessive hair growth | Sometimes (5–29%) |
| Firm lump under the skin | Sometimes (5–29%) |
| Itching | Sometimes (5–29%) |
| Patchy loss of skin color | Sometimes (5–29%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Abdominal bloating | Often (30–79%) |
| Abdominal mass | Often (30–79%) |
| Chronic diarrhea | Often (30–79%) |
| Colorectal polyposis | Often (30–79%) |
| Multiple intestinal neurofibromatosis | Often (30–79%) |
| Functional intestinal obstruction | Sometimes (5–29%) |
| Hamartomatous polyposis | Sometimes (5–29%) |
| Intermittent abdominal pain | Sometimes (5–29%) |
| Abnormality of the rectum | Rarely (1–4%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Elevated urinary catecholamines | Very often (80–99%) |
| Fever | Often (30–79%) |
| Elevated serum ferritin | Sometimes (5–29%) |
| Elevated urinary homovanillic acid | Sometimes (5–29%) |
| Elevated urinary vanillylmandelic acid | Sometimes (5–29%) |
| Increased circulating lactate dehydrogenase concentration | Sometimes (5–29%) |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Low number of red blood cells or hemoglobin | Often (30–79%) |
| Low platelet count | Often (30–79%) |
| Abnormality of coagulation | Sometimes (5–29%) |
| Bleeding tendency | Sometimes (5–29%) |
| Gastrointestinal bleeding | Rarely (1–4%) |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Adrenal abnormalities | Often (30–79%) |
| Elevated circulating catecholamine level | Often (30–79%) |
| Neoplasm of the adrenal gland | Sometimes (5–29%) |
| Premature breast development | Rarely (1–4%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Bone pain | Sometimes (5–29%) |
| Spontaneous fracture | Sometimes (5–29%) |
| Abnormal bone structure | Rarely (1–4%) |
| Hypophosphatemic rickets | Rarely (1–4%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Bulging eye | Sometimes (5–29%) |
| Horner syndrome | Sometimes (5–29%) |
| Opsoclonus | Rarely (1–4%) |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Abnormality of the eye region | Rarely (1–4%) |
| Raccoon eyes | Rarely (1–4%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Swollen lymph nodes | Often (30–79%) |
| High blood pressure | Sometimes (5–29%) |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Abnormality of the prostate | Rarely (1–4%) |
| Undescended testes | Rarely (1–4%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Breathing difficulties | Sometimes (5–29%) |
| Central hypoventilation | Rarely (1–4%) |
Abnormality of the thoracic cavity
| Trait | How often it is seen |
|---|---|
| Abnormal mediastinum morphology | Often (30–79%) |
Constitutional symptom
| Trait | How often it is seen |
|---|---|
| Fatigue | Often (30–79%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Weight loss | Often (30–79%) |
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 ALK and how often each is seen. Find out more at hpo.jax.org.
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