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.

Abnormality of head or neck

Trait	나타나는 빈도
Abnormal facial shape	매우 자주 (80–99%)
Bulbous nose	매우 자주 (80–99%)
Cleft palate	매우 자주 (80–99%)
Corners of eye widely separated	매우 자주 (80–99%)
Eye folds	매우 자주 (80–99%)
Flattening of the skull base	매우 자주 (80–99%)
Prominent nasal bridge	매우 자주 (80–99%)
Upward slanting of the opening between the eyelids	매우 자주 (80–99%)
Wide nasal bridge	매우 자주 (80–99%)
Abnormal dentition	자주 (30–79%)
Abnormality of the eyelid	자주 (30–79%)
Abnormality of the skull	자주 (30–79%)
Dental cavities	자주 (30–79%)
Long face	자주 (30–79%)
Long philtrum	자주 (30–79%)
Short neck	자주 (30–79%)
Zygomatic flattening	자주 (30–79%)
Abnormal tooth enamel	가끔 (5–29%)
Abnormally small head	가끔 (5–29%)
Blockage of the rear opening of the nasal cavity	가끔 (5–29%)
Downward slanting of the opening between the eyelids	가끔 (5–29%)
Little lower jaw	가끔 (5–29%)
Multiple suture craniosynostosis	가끔 (5–29%)
Narrow mouth	가끔 (5–29%)
Retinal arteriolar tortuosity	가끔 (5–29%)
Short philtrum	가끔 (5–29%)
Tall shaped head	가끔 (5–29%)

Abnormality of the nervous system

Trait	나타나는 빈도
Difficulty finding words	매우 자주 (80–99%)
Anxiety	자주 (30–79%)
Attention deficit	자주 (30–79%)
Global developmental delay	자주 (30–79%)
Intellectual disability, mild	자주 (30–79%)
Meningocele	자주 (30–79%)
Specific learning disability	자주 (30–79%)
Arrhinencephaly	가끔 (5–29%)
Autism	가끔 (5–29%)
Behavioral abnormality	가끔 (5–29%)
Bipolar disorder	가끔 (5–29%)
Depression	가끔 (5–29%)
Epilepsy	가끔 (5–29%)
Intellectual disability	가끔 (5–29%)
Parkinsonism	가끔 (5–29%)
Schizophrenia	가끔 (5–29%)
Split spine	가끔 (5–29%)
Too much cerebrospinal fluid in the brain	가끔 (5–29%)

Abnormality of the cardiovascular system

Trait	나타나는 빈도
Abnormal aortic arch morphology	매우 자주 (80–99%)
Abnormal cardiovascular system morphology	매우 자주 (80–99%)
Abnormal pulmonary valve morphology	매우 자주 (80–99%)
An opening in the wall separating the top two chambers of the heart	매우 자주 (80–99%)
Hole in heart wall separating two lower heart chambers	매우 자주 (80–99%)
Small thymus	매우 자주 (80–99%)
Tetralogy of Fallot	매우 자주 (80–99%)
Truncus arteriosus	매우 자주 (80–99%)
Abnormality of the tonsils	자주 (30–79%)
Abnormal aortic valve morphology	가끔 (5–29%)
Hypertensive crisis	가끔 (5–29%)
Increased spleen size	가끔 (5–29%)
Patent ductus arteriosus	가끔 (5–29%)
Tricuspid atresia	가끔 (5–29%)
Varicose veins	가끔 (5–29%)

Abnormality of the digestive system

Trait	나타나는 빈도
Anorectal anomaly	자주 (30–79%)
Constipation	자주 (30–79%)
Absent anus	가끔 (5–29%)
Acid reflux	가끔 (5–29%)
Enlarged colon lacking nerve cells	가끔 (5–29%)
Feeding difficulties in infancy	가끔 (5–29%)
Gallstones	가끔 (5–29%)
Inguinal hernia	가끔 (5–29%)
Intestinal malrotation	가끔 (5–29%)
Loss of bowel control	가끔 (5–29%)
Umbilical hernia	가끔 (5–29%)

Abnormality of the eye

Trait	나타나는 빈도
Drooping upper eyelid	자주 (30–79%)
New blood vessel formation in cornea	자주 (30–79%)
Posterior embryotoxon	자주 (30–79%)
Abnormally small eyeball	가끔 (5–29%)
Clouding of the lens of the eye	가끔 (5–29%)
Cross-eyed	가끔 (5–29%)
Glaucoma	가끔 (5–29%)
Optic atrophy	가끔 (5–29%)
Wide-set eyes	가끔 (5–29%)

Abnormality of the genitourinary system

Trait	나타나는 빈도
Small kidneys	자주 (30–79%)
Abnormality of the uterus	가끔 (5–29%)
Hypospadias	가끔 (5–29%)
Multiple kidney cysts	가끔 (5–29%)
Polycystic kidney dysplasia	가끔 (5–29%)
Undescended testes	가끔 (5–29%)
Vesicoureteral reflux	가끔 (5–29%)

Abnormality of the ear

Trait	나타나는 빈도
Conductive deafness	매우 자주 (80–99%)
Low-set ears	매우 자주 (80–99%)
Chronic infections of the middle ear	자주 (30–79%)
Hearing impairment	자주 (30–79%)
Overfolded ears	자주 (30–79%)
Small earlobe	자주 (30–79%)

Abnormality of the musculoskeletal system

Trait	나타나는 빈도
Low muscle tone	매우 자주 (80–99%)
Intermittent involuntary muscle spasm	자주 (30–79%)
Scoliosis	자주 (30–79%)
Abnormality of the chest	가끔 (5–29%)
Arthritis	가끔 (5–29%)
Double-Jointed	가끔 (5–29%)

Abnormality of limbs

Trait	나타나는 빈도
Long slender fingers	자주 (30–79%)
Club feet	가끔 (5–29%)
Dislocated kneecap	가끔 (5–29%)
Duplication of bones of the toes	가끔 (5–29%)
Extra finger	가끔 (5–29%)

Abnormality of the immune system

Trait	나타나는 빈도
Decreased immune function	매우 자주 (80–99%)
Acne	자주 (30–79%)
Seborrheic dermatitis	자주 (30–79%)
Asthma	가끔 (5–29%)
Autoimmunity	가끔 (5–29%)

Abnormality of the respiratory system

Trait	나타나는 빈도
Abnormality of the pharynx	매우 자주 (80–99%)
Abnormal lung lobation	가끔 (5–29%)
Chronic pulmonary obstruction	가끔 (5–29%)
Partial or complete collapse of part or entire lung	가끔 (5–29%)
Softening of voice box tissue	가끔 (5–29%)

Abnormality of blood and blood-forming tissues

Trait	나타나는 빈도
Blood spots	가끔 (5–29%)
Gastrointestinal bleeding	가끔 (5–29%)
Low platelet count	가끔 (5–29%)
Platelet abnormalities	가끔 (5–29%)

Growth abnormality

Trait	나타나는 빈도
Short stature	자주 (30–79%)
Faltering weight	가끔 (5–29%)
Obesity	가끔 (5–29%)
Prenatal growth deficiency	가끔 (5–29%)

Abnormality of the endocrine system

Trait	나타나는 빈도
Decreased parathyroid hormone secretion	자주 (30–79%)
Overactive thyroid	가끔 (5–29%)
Underactive thyroid	가끔 (5–29%)

Abnormal cellular phenotype

Trait	나타나는 빈도
Impaired T cell function	자주 (30–79%)

Abnormality of prenatal development or birth

Trait	나타나는 빈도
High levels of amniotic fluid	가끔 (5–29%)

Abnormality of the integument

Trait	나타나는 빈도
Patchy loss of skin color	가끔 (5–29%)

Abnormality of the voice

Trait	나타나는 빈도
Nasal speech	매우 자주 (80–99%)

Constitutional symptom

Trait	나타나는 빈도
Muscle ache	자주 (30–79%)

Laboratory abnormality

Trait	나타나는 빈도
Low blood calcium levels	자주 (30–79%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

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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