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Traits
Traits linked to UBA1
ubiquitin like modifier activating enzyme 1
The Human Phenotype Ontology links 79 traits to UBA1, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Low muscle tone | Always |
| Abnormal muscle fiber morphology | Very often (80–99%) |
| EMG: neuropathic changes | Very often (80–99%) |
| Muscle degeneration | Very often (80–99%) |
| Arthrogryposis multiplex congenita | Often (30–79%) |
| Bone fracture | Often (30–79%) |
| Cupped ribs | Often (30–79%) |
| Decreased muscle tone in infant | Often (30–79%) |
| Inflammatory myopathy | Often (30–79%) |
| Proximal neurogenic muscle weakness | Often (30–79%) |
| Short ribs | Often (30–79%) |
| Spinal muscle degeneration | Often (30–79%) |
| Generalized decreased muscle tone | Sometimes (5–29%) |
| Generalized muscle weakness | Sometimes (5–29%) |
| Kyphoscoliosis | Sometimes (5–29%) |
| Weakness of outermost muscles | Sometimes (5–29%) |
| Arthritis | Not recorded |
| Decreased lung function due to weak breathing muscles | Not recorded |
| Flexed joint that cannot be straightened | Not recorded |
| Multiple joint contractures | Not recorded |
| Muscle tissue disease | Not recorded |
| Scoliosis | Not recorded |
| Severely decreased muscle tone | Not recorded |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Absent reflexes | Always |
| Decreased compound muscle action potential amplitude | Always |
| Persistent head lag | Always |
| Abnormal anterior horn cell morphology | Very often (80–99%) |
| Degeneration of anterior horn cells | Very often (80–99%) |
| Loss of articulate speech | Often (30–79%) |
| Abnormal periventricular white matter morphology | Sometimes (5–29%) |
| Motor polyneuropathy | Sometimes (5–29%) |
| Cognitive impairment | Rarely (1–4%) |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Myopathic facies | Always |
| Tongue twitching | Always |
| High palate | Often (30–79%) |
| Nasal chondritis | Often (30–79%) |
| Potter facies | Sometimes (5–29%) |
| Weakness of facial musculature | Sometimes (5–29%) |
| Bell's palsy | Not recorded |
| Little lower jaw | Not recorded |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Macrocytic anemia | Very often (80–99%) |
| Thromboembolism | Often (30–79%) |
| Blood clot in a deep vein | Not recorded |
| Erythroid dysplasia | Not recorded |
| Low platelet count | Not recorded |
| Megakaryocyte dysplasia | Not recorded |
| Myelodysplasia | Not recorded |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Elevated blood creatine phosphokinase | Always |
| Episodic fever | Very often (80–99%) |
| Mildly elevated creatine kinase | Sometimes (5–29%) |
| Elevated circulating C-reactive protein concentration | Not recorded |
| High ESR | Not recorded |
| Laboratory abnormality | Not recorded |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Ankle flexion contracture | Often (30–79%) |
| Elbow flexion contracture | Often (30–79%) |
| Hip contracture | Often (30–79%) |
| Inability to straighten knee | Often (30–79%) |
| Interphalangeal joint contracture of finger | Often (30–79%) |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Undescended testes | Sometimes (5–29%) |
| Hypospadias | Not recorded |
| Short penis | Not recorded |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Autoimmune antibody positivity | Not recorded |
| Inflammatory abnormality of the skin | Not recorded |
| Neutrophilic infiltration of the skin | Not recorded |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Breathing difficulties | Often (30–79%) |
| Lung infiltrates | Often (30–79%) |
| Respiratory function loss | Often (30–79%) |
Constitutional symptom
| Trait | How often it is seen |
|---|---|
| Fatigue | Not recorded |
| Joint pain | Not recorded |
| Night sweats | Not recorded |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Poor suck | Very often (80–99%) |
| Inguinal hernia | Not recorded |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Chondritis of pinna | Often (30–79%) |
| Sensorineural hearing impairment | Not recorded |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| Less than 10 fetal movements in 12 hours | Not recorded |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Inflammation of artery | Not recorded |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Drooping upper eyelid | Not recorded |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Skin plaque | Not recorded |
Abnormality of the voice
| Trait | How often it is seen |
|---|---|
| Weak cry | 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 UBA1 and how often each is seen. Find out more at hpo.jax.org.
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