Traits

Traits linked to MBTPS2

membrane bound transcription factor peptidase, site 2

The Human Phenotype Ontology links 189 traits to MBTPS2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the integument

Trait	나타나는 빈도
Abnormal fingernails	매우 자주 (80–99%)
Abnormality of the hair	매우 자주 (80–99%)
Atrichia	매우 자주 (80–99%)
Cracked skin	매우 자주 (80–99%)
Hair loss	매우 자주 (80–99%)
Ichthyosis	매우 자주 (80–99%)
Lack of sweating	매우 자주 (80–99%)
Papule	매우 자주 (80–99%)
Sparse hair	매우 자주 (80–99%)
Thickened skin	매우 자주 (80–99%)
Abnormality of the nail	자주 (30–79%)
Chicken skin	자주 (30–79%)
Decreased ability to sweat	자주 (30–79%)
Follicular hyperkeratosis	자주 (30–79%)
Hyperconvex fingernails	자주 (30–79%)
Hyperkeratosis	자주 (30–79%)
Hyperkeratotic papule	자주 (30–79%)
Ichthyosis follicularis	자주 (30–79%)
Itching	자주 (30–79%)
Open skin sore	자주 (30–79%)
Progressive alopecia	자주 (30–79%)
Small fingernail	자주 (30–79%)
Thin fingernail	자주 (30–79%)
Dry skin	가끔 (5–29%)
Periungual erythema	가끔 (5–29%)
Poor fingernail formation	가끔 (5–29%)
Poor nail formation	가끔 (5–29%)
Skin cancer	가끔 (5–29%)
Thickened, discolored skin under nail	가끔 (5–29%)
Alopecia totalis	기록되지 않음
Atypical nail growth	기록되지 않음
Ectodermal dysplasia	기록되지 않음
Parakeratosis	기록되지 않음
Perifollicular fibrosis	기록되지 않음
Scaling skin	기록되지 않음
Thickening of upper layer of skin	기록되지 않음

Abnormality of head or neck

Trait	나타나는 빈도
Abnormally small head	매우 자주 (80–99%)
Abnormal dentition	자주 (30–79%)
Abnormal eyelashes	자주 (30–79%)
Abnormal nasolacrimal system morphology	자주 (30–79%)
Absent eyebrow	자주 (30–79%)
Asymmetry of the posterior head	자주 (30–79%)
Beaked nose	자주 (30–79%)
Cleft palate	자주 (30–79%)
Dental cavities	자주 (30–79%)
Failure of development of between one and six teeth	자주 (30–79%)
Hair loss on scalp from scarring condition	자주 (30–79%)
Sparse eyebrow	자주 (30–79%)
Sparse eyelashes	자주 (30–79%)
Thin eyebrow	자주 (30–79%)
Abnormal tooth enamel	가끔 (5–29%)
Abnormality of lining of mouth	가끔 (5–29%)
Abnormality of the eyelid	가끔 (5–29%)
Abnormality of the gums	가끔 (5–29%)
Abnormality of the tongue	가끔 (5–29%)
Blockage of the rear opening of the nasal cavity	가끔 (5–29%)
Frontal bossing	가끔 (5–29%)
Inflammation of eyelids	가끔 (5–29%)
Inflammation of the lips	가끔 (5–29%)
Narrowing of the rear opening of the nasal cavity	가끔 (5–29%)
Pink eye	가끔 (5–29%)
Recurrent colds	가끔 (5–29%)
Sparse scalp hair	가끔 (5–29%)
Absent eyelashes	기록되지 않음
Everted eyelid	기록되지 않음
Posterior blepharitis	기록되지 않음

Abnormality of the nervous system

Trait	나타나는 빈도
Abnormal shape of brain	매우 자주 (80–99%)
Epilepsy	매우 자주 (80–99%)
Global developmental delay	매우 자주 (80–99%)
Intellectual disability	매우 자주 (80–99%)
Intellectual disability, severe	매우 자주 (80–99%)
Specific learning disability	매우 자주 (80–99%)
Too much cerebrospinal fluid in the brain	매우 자주 (80–99%)
Dementia	자주 (30–79%)
Loss of developmental milestones	자주 (30–79%)
Mental deterioration	자주 (30–79%)
Absent septum pellucidum	가끔 (5–29%)
Agenesis of corpus callosum	가끔 (5–29%)
Cerebral cortical hemiatrophy	가끔 (5–29%)
Chiari malformation	가끔 (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	가끔 (5–29%)
Hydromyelia	가끔 (5–29%)
Motor delay	가끔 (5–29%)
Small cerebellum	가끔 (5–29%)
Subcortical cerebral atrophy	가끔 (5–29%)
Brain degeneration	기록되지 않음
Olivopontocerebellar atrophy	기록되지 않음
Underdevelopment of part of brain called corpus callosum	기록되지 않음
Ventriculomegaly	기록되지 않음

Abnormality of the musculoskeletal system

Trait	나타나는 빈도
Biconcave vertebral bodies	항상
Osteopenia	항상
Recurrent fractures	항상
Wedge-shaped vertebrae	항상
Ankylosis	매우 자주 (80–99%)
Multiple fractures present at birth	매우 자주 (80–99%)
Missing part of vertebrae	자주 (30–79%)
Pigeon chest	자주 (30–79%)
Scoliosis	자주 (30–79%)
Abnormal shape of pelvis bone	가끔 (5–29%)
Abnormal vertebral morphology	가끔 (5–29%)
Abnormality of the vertebral column	가끔 (5–29%)
Breakdown of bone	가끔 (5–29%)
Butterfly vertebrae	가끔 (5–29%)
Delayed bone maturation	가끔 (5–29%)
Flattened vertebrae	가끔 (5–29%)
Funnel chest	가끔 (5–29%)
Hunched back	가끔 (5–29%)
Low muscle tone	가끔 (5–29%)
Small chest on one side	기록되지 않음

Abnormality of the eye

Trait	나타나는 빈도
Extreme sensitivity of the eyes to light	매우 자주 (80–99%)
Optic nerve hypoplasia	매우 자주 (80–99%)
Abnormally small eyeball	자주 (30–79%)
Cat eye	자주 (30–79%)
Damage to outer layer of the cornea of the eye	자주 (30–79%)
Astigmatism	가끔 (5–29%)
Blue outer white part of eyeball	가끔 (5–29%)
Close sighted	가끔 (5–29%)
Corneal dystrophy	가끔 (5–29%)
Corneal inflammation	가끔 (5–29%)
Corneal opacity	가끔 (5–29%)
Drooping upper eyelid	가끔 (5–29%)
Inflammation of the outer white part of the eye	가끔 (5–29%)
Inflammation of the thin layer on top of the white part of eye	가끔 (5–29%)
Involuntary, rapid, rhythmic eye movements	가끔 (5–29%)
New blood vessel formation in cornea	가끔 (5–29%)
Uveitis	가끔 (5–29%)
Opacification of the corneal stroma	기록되지 않음
Recurrent breakdown of clear protective layer of eye	기록되지 않음

Abnormality of the genitourinary system

Trait	나타나는 빈도
Small kidneys	매우 자주 (80–99%)
Underdeveloped bladder	매우 자주 (80–99%)
Undescended testes	매우 자주 (80–99%)
Decreased testicular size	자주 (30–79%)
Renal dysplasia	자주 (30–79%)
Vesicoureteral reflux	자주 (30–79%)
Abnormality of the kidney	가끔 (5–29%)
Abnormality of the upper urinary tract	가끔 (5–29%)
Absent kidney	가끔 (5–29%)
Absent kidney on one side	가끔 (5–29%)
Hydronephrosis	가끔 (5–29%)
Hydroureter	가끔 (5–29%)
Hypospadias	가끔 (5–29%)
Multicystic kidney dysplasia	기록되지 않음

Abnormality of limbs

Trait	나타나는 빈도
Bowed legs	항상
Disproportionately short upper portion of limb	항상
Bowing of the arm	매우 자주 (80–99%)
Excessive sweating of palms and soles	매우 자주 (80–99%)
Thickening of palms and soles	매우 자주 (80–99%)
Cleft hand	자주 (30–79%)
Extra little finger	자주 (30–79%)
Abnormality of the hand	가끔 (5–29%)
Hip dislocation	가끔 (5–29%)
Oligodactyly	가끔 (5–29%)
Permanent flexion of the finger	가끔 (5–29%)
Thickening of the outer layer of the skin of the palms and soles	기록되지 않음

Abnormality of the immune system

Trait	나타나는 빈도
Decreased immune function	자주 (30–79%)
Eczema	자주 (30–79%)
Folliculitis	자주 (30–79%)
Recurrent bacterial infections	자주 (30–79%)
Recurrent infections	자주 (30–79%)
Recurrent respiratory infections	자주 (30–79%)
Baby eczema	가끔 (5–29%)
Recurrent skin infections	가끔 (5–29%)
Red scaly skin caused by inflammatory skin disease	기록되지 않음

Abnormality of the cardiovascular system

Trait	나타나는 빈도
Redness of skin or mucous membrane	매우 자주 (80–99%)
Blushed cheeks	자주 (30–79%)
An opening in the wall separating the top two chambers of the heart	가끔 (5–29%)
High blood pressure	가끔 (5–29%)
Hives	가끔 (5–29%)
Perianal erythema	가끔 (5–29%)

Abnormality of the digestive system

Trait	나타나는 빈도
Enlarged colon lacking nerve cells	자주 (30–79%)
Feeding difficulties	자주 (30–79%)
Inguinal hernia	가끔 (5–29%)
Omphalocele	가끔 (5–29%)
Umbilical hernia	기록되지 않음

Abnormality of the ear

Trait	나타나는 빈도
Low-set ears	매우 자주 (80–99%)
Prominent ear	매우 자주 (80–99%)
Hearing impairment	자주 (30–79%)
Sensorineural hearing impairment	자주 (30–79%)
Large ears	가끔 (5–29%)

Growth abnormality

Trait	나타나는 빈도
Growth delay	매우 자주 (80–99%)
Faltering weight	자주 (30–79%)
Prenatal growth deficiency	자주 (30–79%)
Severe short stature	가끔 (5–29%)
Short stature	기록되지 않음

Laboratory abnormality

Trait	나타나는 빈도
Abnormality of temperature regulation	자주 (30–79%)
Heat intolerance	자주 (30–79%)

Abnormal tissue mass

Trait	나타나는 빈도
Cancer of skin pigment cells	가끔 (5–29%)

Abnormality of prenatal development or birth

Trait	나타나는 빈도
Low levels of amniotic fluid	기록되지 않음

Abnormality of the respiratory system

Trait	나타나는 빈도
Lung cancer	가끔 (5–29%)

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 MBTPS2 and how often each is seen. Find out more at hpo.jax.org.

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