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Traits
Traits linked to HMGCL
3-hydroxy-3-methylglutaryl-CoA lyase
The Human Phenotype Ontology links 70 traits to HMGCL, by body system: features seen in people with one of the gene's rare conditions.
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Laboratory abnormality
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Drowsiness | Often (30–79%) |
| EEG abnormality | Often (30–79%) |
| Epilepsy | Often (30–79%) |
| Global developmental delay | Often (30–79%) |
| Lack of feeling, emotion, interest | Often (30–79%) |
| Lethargy | Often (30–79%) |
| Coma | Sometimes (5–29%) |
| Decreased reflex response | Sometimes (5–29%) |
| Encephalopathy | Sometimes (5–29%) |
| Hypsarrhythmia | Sometimes (5–29%) |
| Intellectual disability, mild | Sometimes (5–29%) |
| Intellectual disability, severe | Sometimes (5–29%) |
| IQ between 34 and 49 | Sometimes (5–29%) |
| Jerking | Sometimes (5–29%) |
| Ataxia | Rarely (1–4%) |
| Coma caused by low blood sugar | Rarely (1–4%) |
| Difficulty articulating speech | Rarely (1–4%) |
| Leukoencephalopathy | Rarely (1–4%) |
| Abnormal cerebral white matter morphology | Not recorded |
| Excessive daytime sleepiness | Not recorded |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Anorexia | Often (30–79%) |
| Enlarged liver | Often (30–79%) |
| Episodic vomiting | Often (30–79%) |
| Reye syndrome-like episodes | Often (30–79%) |
| Diarrhea | Sometimes (5–29%) |
| Jaundice | Sometimes (5–29%) |
| Acute pancreatic inflammation | Rarely (1–4%) |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Decreased prothrombin time | Often (30–79%) |
| Low number of red blood cells or hemoglobin | Often (30–79%) |
| Prolonged prothrombin time | Often (30–79%) |
| Decreased blood leukocyte number | Sometimes (5–29%) |
| Elevated white blood count | Sometimes (5–29%) |
| Increased number of platelets in blood | Sometimes (5–29%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Low blood pressure | Sometimes (5–29%) |
| Heart stops beating | Rarely (1–4%) |
| Stretched and thinned heart muscle | Rarely (1–4%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Low muscle tone | Often (30–79%) |
| Involuntary muscle stiffness, contraction, or spasm | Rarely (1–4%) |
| Spastic hemiparesis | Rarely (1–4%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Increased respiratory rate or depth of breathing | Often (30–79%) |
| Apnea | Sometimes (5–29%) |
Abnormal cellular phenotype
| Trait | How often it is seen |
|---|---|
| Carnitine deficiency | Not recorded |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Abnormally small head | Rarely (1–4%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Paleness | Sometimes (5–29%) |
Constitutional symptom
| Trait | How often it is seen |
|---|---|
| Fatigue | Sometimes (5–29%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Weight loss | Sometimes (5–29%) |
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 HMGCL and how often each is seen. Find out more at hpo.jax.org.
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