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

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Biconcave vertebral bodies	Visada
Osteopenia	Visada
Recurrent fractures	Visada
Wedge-shaped vertebrae	Visada
Ankylosis	Labai dažnai (80–99%)
Multiple fractures present at birth	Labai dažnai (80–99%)
Missing part of vertebrae	Dažnai (30–79%)
Pigeon chest	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Abnormal shape of pelvis bone	Kartais (5–29%)
Abnormal vertebral morphology	Kartais (5–29%)
Abnormality of the vertebral column	Kartais (5–29%)
Breakdown of bone	Kartais (5–29%)
Butterfly vertebrae	Kartais (5–29%)
Delayed bone maturation	Kartais (5–29%)
Flattened vertebrae	Kartais (5–29%)
Funnel chest	Kartais (5–29%)
Hunched back	Kartais (5–29%)
Low muscle tone	Kartais (5–29%)
Small chest on one side	Neužfiksuota

Abnormality of the eye

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

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Small kidneys	Labai dažnai (80–99%)
Underdeveloped bladder	Labai dažnai (80–99%)
Undescended testes	Labai dažnai (80–99%)
Decreased testicular size	Dažnai (30–79%)
Renal dysplasia	Dažnai (30–79%)
Vesicoureteral reflux	Dažnai (30–79%)
Abnormality of the kidney	Kartais (5–29%)
Abnormality of the upper urinary tract	Kartais (5–29%)
Absent kidney	Kartais (5–29%)
Absent kidney on one side	Kartais (5–29%)
Hydronephrosis	Kartais (5–29%)
Hydroureter	Kartais (5–29%)
Hypospadias	Kartais (5–29%)
Multicystic kidney dysplasia	Neužfiksuota

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Bowed legs	Visada
Disproportionately short upper portion of limb	Visada
Bowing of the arm	Labai dažnai (80–99%)
Excessive sweating of palms and soles	Labai dažnai (80–99%)
Thickening of palms and soles	Labai dažnai (80–99%)
Cleft hand	Dažnai (30–79%)
Extra little finger	Dažnai (30–79%)
Abnormality of the hand	Kartais (5–29%)
Hip dislocation	Kartais (5–29%)
Oligodactyly	Kartais (5–29%)
Permanent flexion of the finger	Kartais (5–29%)
Thickening of the outer layer of the skin of the palms and soles	Neužfiksuota

Abnormality of the immune system

Trait	Kaip dažnai pasireiškia
Decreased immune function	Dažnai (30–79%)
Eczema	Dažnai (30–79%)
Folliculitis	Dažnai (30–79%)
Recurrent bacterial infections	Dažnai (30–79%)
Recurrent infections	Dažnai (30–79%)
Recurrent respiratory infections	Dažnai (30–79%)
Baby eczema	Kartais (5–29%)
Recurrent skin infections	Kartais (5–29%)
Red scaly skin caused by inflammatory skin disease	Neužfiksuota

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Redness of skin or mucous membrane	Labai dažnai (80–99%)
Blushed cheeks	Dažnai (30–79%)
An opening in the wall separating the top two chambers of the heart	Kartais (5–29%)
High blood pressure	Kartais (5–29%)
Hives	Kartais (5–29%)
Perianal erythema	Kartais (5–29%)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Enlarged colon lacking nerve cells	Dažnai (30–79%)
Feeding difficulties	Dažnai (30–79%)
Inguinal hernia	Kartais (5–29%)
Omphalocele	Kartais (5–29%)
Umbilical hernia	Neužfiksuota

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Low-set ears	Labai dažnai (80–99%)
Prominent ear	Labai dažnai (80–99%)
Hearing impairment	Dažnai (30–79%)
Sensorineural hearing impairment	Dažnai (30–79%)
Large ears	Kartais (5–29%)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Growth delay	Labai dažnai (80–99%)
Faltering weight	Dažnai (30–79%)
Prenatal growth deficiency	Dažnai (30–79%)
Severe short stature	Kartais (5–29%)
Short stature	Neužfiksuota

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Abnormality of temperature regulation	Dažnai (30–79%)
Heat intolerance	Dažnai (30–79%)

Abnormal tissue mass

Trait	Kaip dažnai pasireiškia
Cancer of skin pigment cells	Kartais (5–29%)

Abnormality of prenatal development or birth

Trait	Kaip dažnai pasireiškia
Low levels of amniotic fluid	Neužfiksuota

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Lung cancer	Kartais (5–29%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

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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