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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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ConectareÎntrebațiSecvențiați-vă genomul↗
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Abnormality of head or neck
Abnormality of the nervous system
| Trait | Cât de frecvent apare |
|---|---|
| Difficulty finding words | Foarte des (80–99%) |
| Anxiety | Des (30–79%) |
| Attention deficit | Des (30–79%) |
| Global developmental delay | Des (30–79%) |
| Intellectual disability, mild | Des (30–79%) |
| Meningocele | Des (30–79%) |
| Specific learning disability | Des (30–79%) |
| Arrhinencephaly | Uneori (5–29%) |
| Autism | Uneori (5–29%) |
| Behavioral abnormality | Uneori (5–29%) |
| Bipolar disorder | Uneori (5–29%) |
| Depression | Uneori (5–29%) |
| Epilepsy | Uneori (5–29%) |
| Intellectual disability | Uneori (5–29%) |
| Parkinsonism | Uneori (5–29%) |
| Schizophrenia | Uneori (5–29%) |
| Split spine | Uneori (5–29%) |
| Too much cerebrospinal fluid in the brain | Uneori (5–29%) |
Abnormality of the cardiovascular system
| Trait | Cât de frecvent apare |
|---|---|
| Abnormal aortic arch morphology | Foarte des (80–99%) |
| Abnormal cardiovascular system morphology | Foarte des (80–99%) |
| Abnormal pulmonary valve morphology | Foarte des (80–99%) |
| An opening in the wall separating the top two chambers of the heart | Foarte des (80–99%) |
| Hole in heart wall separating two lower heart chambers | Foarte des (80–99%) |
| Small thymus | Foarte des (80–99%) |
| Tetralogy of Fallot | Foarte des (80–99%) |
| Truncus arteriosus | Foarte des (80–99%) |
| Abnormality of the tonsils | Des (30–79%) |
| Abnormal aortic valve morphology | Uneori (5–29%) |
| Hypertensive crisis | Uneori (5–29%) |
| Increased spleen size | Uneori (5–29%) |
| Patent ductus arteriosus | Uneori (5–29%) |
| Tricuspid atresia | Uneori (5–29%) |
| Varicose veins | Uneori (5–29%) |
Abnormality of the digestive system
| Trait | Cât de frecvent apare |
|---|---|
| Anorectal anomaly | Des (30–79%) |
| Constipation | Des (30–79%) |
| Absent anus | Uneori (5–29%) |
| Acid reflux | Uneori (5–29%) |
| Enlarged colon lacking nerve cells | Uneori (5–29%) |
| Feeding difficulties in infancy | Uneori (5–29%) |
| Gallstones | Uneori (5–29%) |
| Inguinal hernia | Uneori (5–29%) |
| Intestinal malrotation | Uneori (5–29%) |
| Loss of bowel control | Uneori (5–29%) |
| Umbilical hernia | Uneori (5–29%) |
Abnormality of the eye
| Trait | Cât de frecvent apare |
|---|---|
| Drooping upper eyelid | Des (30–79%) |
| New blood vessel formation in cornea | Des (30–79%) |
| Posterior embryotoxon | Des (30–79%) |
| Abnormally small eyeball | Uneori (5–29%) |
| Clouding of the lens of the eye | Uneori (5–29%) |
| Cross-eyed | Uneori (5–29%) |
| Glaucoma | Uneori (5–29%) |
| Optic atrophy | Uneori (5–29%) |
| Wide-set eyes | Uneori (5–29%) |
Abnormality of the genitourinary system
| Trait | Cât de frecvent apare |
|---|---|
| Small kidneys | Des (30–79%) |
| Abnormality of the uterus | Uneori (5–29%) |
| Hypospadias | Uneori (5–29%) |
| Multiple kidney cysts | Uneori (5–29%) |
| Polycystic kidney dysplasia | Uneori (5–29%) |
| Undescended testes | Uneori (5–29%) |
| Vesicoureteral reflux | Uneori (5–29%) |
Abnormality of the ear
| Trait | Cât de frecvent apare |
|---|---|
| Conductive deafness | Foarte des (80–99%) |
| Low-set ears | Foarte des (80–99%) |
| Chronic infections of the middle ear | Des (30–79%) |
| Hearing impairment | Des (30–79%) |
| Overfolded ears | Des (30–79%) |
| Small earlobe | Des (30–79%) |
Abnormality of the musculoskeletal system
| Trait | Cât de frecvent apare |
|---|---|
| Low muscle tone | Foarte des (80–99%) |
| Intermittent involuntary muscle spasm | Des (30–79%) |
| Scoliosis | Des (30–79%) |
| Abnormality of the chest | Uneori (5–29%) |
| Arthritis | Uneori (5–29%) |
| Double-Jointed | Uneori (5–29%) |
Abnormality of limbs
| Trait | Cât de frecvent apare |
|---|---|
| Long slender fingers | Des (30–79%) |
| Club feet | Uneori (5–29%) |
| Dislocated kneecap | Uneori (5–29%) |
| Duplication of bones of the toes | Uneori (5–29%) |
| Extra finger | Uneori (5–29%) |
Abnormality of the immune system
| Trait | Cât de frecvent apare |
|---|---|
| Decreased immune function | Foarte des (80–99%) |
| Acne | Des (30–79%) |
| Seborrheic dermatitis | Des (30–79%) |
| Asthma | Uneori (5–29%) |
| Autoimmunity | Uneori (5–29%) |
Abnormality of the respiratory system
| Trait | Cât de frecvent apare |
|---|---|
| Abnormality of the pharynx | Foarte des (80–99%) |
| Abnormal lung lobation | Uneori (5–29%) |
| Chronic pulmonary obstruction | Uneori (5–29%) |
| Partial or complete collapse of part or entire lung | Uneori (5–29%) |
| Softening of voice box tissue | Uneori (5–29%) |
Abnormality of blood and blood-forming tissues
| Trait | Cât de frecvent apare |
|---|---|
| Blood spots | Uneori (5–29%) |
| Gastrointestinal bleeding | Uneori (5–29%) |
| Low platelet count | Uneori (5–29%) |
| Platelet abnormalities | Uneori (5–29%) |
Growth abnormality
| Trait | Cât de frecvent apare |
|---|---|
| Short stature | Des (30–79%) |
| Faltering weight | Uneori (5–29%) |
| Obesity | Uneori (5–29%) |
| Prenatal growth deficiency | Uneori (5–29%) |
Abnormality of the endocrine system
| Trait | Cât de frecvent apare |
|---|---|
| Decreased parathyroid hormone secretion | Des (30–79%) |
| Overactive thyroid | Uneori (5–29%) |
| Underactive thyroid | Uneori (5–29%) |
Abnormal cellular phenotype
| Trait | Cât de frecvent apare |
|---|---|
| Impaired T cell function | Des (30–79%) |
Abnormality of prenatal development or birth
| Trait | Cât de frecvent apare |
|---|---|
| High levels of amniotic fluid | Uneori (5–29%) |
Abnormality of the integument
| Trait | Cât de frecvent apare |
|---|---|
| Patchy loss of skin color | Uneori (5–29%) |
Abnormality of the voice
| Trait | Cât de frecvent apare |
|---|---|
| Nasal speech | Foarte des (80–99%) |
Constitutional symptom
| Trait | Cât de frecvent apare |
|---|---|
| Muscle ache | Des (30–79%) |
Laboratory abnormality
| Trait | Cât de frecvent apare |
|---|---|
| Low blood calcium levels | Des (30–79%) |
Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.
De unde provin aceste informații
- 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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