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Traits
Traits linked to UFD1
ubiquitin recognition factor in ER associated degradation 1
The Human Phenotype Ontology links 131 traits to UFD1, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of head or neck
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Difficulty finding words | Very often (80–99%) |
| Anxiety | Often (30–79%) |
| Attention deficit | Often (30–79%) |
| Global developmental delay | Often (30–79%) |
| Intellectual disability, mild | Often (30–79%) |
| Meningocele | Often (30–79%) |
| Specific learning disability | Often (30–79%) |
| Arrhinencephaly | Sometimes (5–29%) |
| Autism | Sometimes (5–29%) |
| Behavioral abnormality | Sometimes (5–29%) |
| Bipolar disorder | Sometimes (5–29%) |
| Depression | Sometimes (5–29%) |
| Epilepsy | Sometimes (5–29%) |
| Intellectual disability | Sometimes (5–29%) |
| Parkinsonism | Sometimes (5–29%) |
| Schizophrenia | Sometimes (5–29%) |
| Split spine | Sometimes (5–29%) |
| Too much cerebrospinal fluid in the brain | Sometimes (5–29%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Abnormal aortic arch morphology | Very often (80–99%) |
| Abnormal cardiovascular system morphology | Very often (80–99%) |
| Abnormal pulmonary valve morphology | Very often (80–99%) |
| An opening in the wall separating the top two chambers of the heart | Very often (80–99%) |
| Hole in heart wall separating two lower heart chambers | Very often (80–99%) |
| Small thymus | Very often (80–99%) |
| Tetralogy of Fallot | Very often (80–99%) |
| Truncus arteriosus | Very often (80–99%) |
| Abnormality of the tonsils | Often (30–79%) |
| Abnormal aortic valve morphology | Sometimes (5–29%) |
| Hypertensive crisis | Sometimes (5–29%) |
| Increased spleen size | Sometimes (5–29%) |
| Patent ductus arteriosus | Sometimes (5–29%) |
| Tricuspid atresia | Sometimes (5–29%) |
| Varicose veins | Sometimes (5–29%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Anorectal anomaly | Often (30–79%) |
| Constipation | Often (30–79%) |
| Absent anus | Sometimes (5–29%) |
| Acid reflux | Sometimes (5–29%) |
| Enlarged colon lacking nerve cells | Sometimes (5–29%) |
| Feeding difficulties in infancy | Sometimes (5–29%) |
| Gallstones | Sometimes (5–29%) |
| Inguinal hernia | Sometimes (5–29%) |
| Intestinal malrotation | Sometimes (5–29%) |
| Loss of bowel control | Sometimes (5–29%) |
| Umbilical hernia | Sometimes (5–29%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Drooping upper eyelid | Often (30–79%) |
| New blood vessel formation in cornea | Often (30–79%) |
| Posterior embryotoxon | Often (30–79%) |
| Abnormally small eyeball | Sometimes (5–29%) |
| Clouding of the lens of the eye | Sometimes (5–29%) |
| Cross-eyed | Sometimes (5–29%) |
| Glaucoma | Sometimes (5–29%) |
| Optic atrophy | Sometimes (5–29%) |
| Wide-set eyes | Sometimes (5–29%) |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Small kidneys | Often (30–79%) |
| Abnormality of the uterus | Sometimes (5–29%) |
| Hypospadias | Sometimes (5–29%) |
| Multiple kidney cysts | Sometimes (5–29%) |
| Polycystic kidney dysplasia | Sometimes (5–29%) |
| Undescended testes | Sometimes (5–29%) |
| Vesicoureteral reflux | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Conductive deafness | Very often (80–99%) |
| Low-set ears | Very often (80–99%) |
| Chronic infections of the middle ear | Often (30–79%) |
| Hearing impairment | Often (30–79%) |
| Overfolded ears | Often (30–79%) |
| Small earlobe | Often (30–79%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Low muscle tone | Very often (80–99%) |
| Intermittent involuntary muscle spasm | Often (30–79%) |
| Scoliosis | Often (30–79%) |
| Abnormality of the chest | Sometimes (5–29%) |
| Arthritis | Sometimes (5–29%) |
| Double-Jointed | Sometimes (5–29%) |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Long slender fingers | Often (30–79%) |
| Club feet | Sometimes (5–29%) |
| Dislocated kneecap | Sometimes (5–29%) |
| Duplication of bones of the toes | Sometimes (5–29%) |
| Extra finger | Sometimes (5–29%) |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Decreased immune function | Very often (80–99%) |
| Acne | Often (30–79%) |
| Seborrheic dermatitis | Often (30–79%) |
| Asthma | Sometimes (5–29%) |
| Autoimmunity | Sometimes (5–29%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Abnormality of the pharynx | Very often (80–99%) |
| Abnormal lung lobation | Sometimes (5–29%) |
| Chronic pulmonary obstruction | Sometimes (5–29%) |
| Partial or complete collapse of part or entire lung | Sometimes (5–29%) |
| Softening of voice box tissue | Sometimes (5–29%) |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Blood spots | Sometimes (5–29%) |
| Gastrointestinal bleeding | Sometimes (5–29%) |
| Low platelet count | Sometimes (5–29%) |
| Platelet abnormalities | Sometimes (5–29%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Short stature | Often (30–79%) |
| Faltering weight | Sometimes (5–29%) |
| Obesity | Sometimes (5–29%) |
| Prenatal growth deficiency | Sometimes (5–29%) |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Decreased parathyroid hormone secretion | Often (30–79%) |
| Overactive thyroid | Sometimes (5–29%) |
| Underactive thyroid | Sometimes (5–29%) |
Abnormal cellular phenotype
| Trait | How often it is seen |
|---|---|
| Impaired T cell function | Often (30–79%) |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| High levels of amniotic fluid | Sometimes (5–29%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Patchy loss of skin color | Sometimes (5–29%) |
Abnormality of the voice
| Trait | How often it is seen |
|---|---|
| Nasal speech | Very often (80–99%) |
Constitutional symptom
| Trait | How often it is seen |
|---|---|
| Muscle ache | Often (30–79%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Low blood calcium levels | 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 UFD1 and how often each is seen. Find out more at hpo.jax.org.
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