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

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Biconcave vertebral bodies	Alati
Osteopenia	Alati
Recurrent fractures	Alati
Wedge-shaped vertebrae	Alati
Ankylosis	Väga sageli (80–99%)
Multiple fractures present at birth	Väga sageli (80–99%)
Missing part of vertebrae	Sageli (30–79%)
Pigeon chest	Sageli (30–79%)
Scoliosis	Sageli (30–79%)
Abnormal shape of pelvis bone	Mõnikord (5–29%)
Abnormal vertebral morphology	Mõnikord (5–29%)
Abnormality of the vertebral column	Mõnikord (5–29%)
Breakdown of bone	Mõnikord (5–29%)
Butterfly vertebrae	Mõnikord (5–29%)
Delayed bone maturation	Mõnikord (5–29%)
Flattened vertebrae	Mõnikord (5–29%)
Funnel chest	Mõnikord (5–29%)
Hunched back	Mõnikord (5–29%)
Low muscle tone	Mõnikord (5–29%)
Small chest on one side	Pole registreeritud

Abnormality of the eye

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

Abnormality of the genitourinary system

Trait	Kui sageli seda täheldatakse
Small kidneys	Väga sageli (80–99%)
Underdeveloped bladder	Väga sageli (80–99%)
Undescended testes	Väga sageli (80–99%)
Decreased testicular size	Sageli (30–79%)
Renal dysplasia	Sageli (30–79%)
Vesicoureteral reflux	Sageli (30–79%)
Abnormality of the kidney	Mõnikord (5–29%)
Abnormality of the upper urinary tract	Mõnikord (5–29%)
Absent kidney	Mõnikord (5–29%)
Absent kidney on one side	Mõnikord (5–29%)
Hydronephrosis	Mõnikord (5–29%)
Hydroureter	Mõnikord (5–29%)
Hypospadias	Mõnikord (5–29%)
Multicystic kidney dysplasia	Pole registreeritud

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Bowed legs	Alati
Disproportionately short upper portion of limb	Alati
Bowing of the arm	Väga sageli (80–99%)
Excessive sweating of palms and soles	Väga sageli (80–99%)
Thickening of palms and soles	Väga sageli (80–99%)
Cleft hand	Sageli (30–79%)
Extra little finger	Sageli (30–79%)
Abnormality of the hand	Mõnikord (5–29%)
Hip dislocation	Mõnikord (5–29%)
Oligodactyly	Mõnikord (5–29%)
Permanent flexion of the finger	Mõnikord (5–29%)
Thickening of the outer layer of the skin of the palms and soles	Pole registreeritud

Abnormality of the immune system

Trait	Kui sageli seda täheldatakse
Decreased immune function	Sageli (30–79%)
Eczema	Sageli (30–79%)
Folliculitis	Sageli (30–79%)
Recurrent bacterial infections	Sageli (30–79%)
Recurrent infections	Sageli (30–79%)
Recurrent respiratory infections	Sageli (30–79%)
Baby eczema	Mõnikord (5–29%)
Recurrent skin infections	Mõnikord (5–29%)
Red scaly skin caused by inflammatory skin disease	Pole registreeritud

Abnormality of the cardiovascular system

Trait	Kui sageli seda täheldatakse
Redness of skin or mucous membrane	Väga sageli (80–99%)
Blushed cheeks	Sageli (30–79%)
An opening in the wall separating the top two chambers of the heart	Mõnikord (5–29%)
High blood pressure	Mõnikord (5–29%)
Hives	Mõnikord (5–29%)
Perianal erythema	Mõnikord (5–29%)

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Enlarged colon lacking nerve cells	Sageli (30–79%)
Feeding difficulties	Sageli (30–79%)
Inguinal hernia	Mõnikord (5–29%)
Omphalocele	Mõnikord (5–29%)
Umbilical hernia	Pole registreeritud

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Low-set ears	Väga sageli (80–99%)
Prominent ear	Väga sageli (80–99%)
Hearing impairment	Sageli (30–79%)
Sensorineural hearing impairment	Sageli (30–79%)
Large ears	Mõnikord (5–29%)

Growth abnormality

Trait	Kui sageli seda täheldatakse
Growth delay	Väga sageli (80–99%)
Faltering weight	Sageli (30–79%)
Prenatal growth deficiency	Sageli (30–79%)
Severe short stature	Mõnikord (5–29%)
Short stature	Pole registreeritud

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
Abnormality of temperature regulation	Sageli (30–79%)
Heat intolerance	Sageli (30–79%)

Abnormal tissue mass

Trait	Kui sageli seda täheldatakse
Cancer of skin pigment cells	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Trait	Kui sageli seda täheldatakse
Low levels of amniotic fluid	Pole registreeritud

Abnormality of the respiratory system

Trait	Kui sageli seda täheldatakse
Lung cancer	Mõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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.

Üks test. Vastused kogu eluks.

Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast

Telli oma Genome Test