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	How often it is seen
Abnormal fingernails	Very often (80–99%)
Abnormality of the hair	Very often (80–99%)
Atrichia	Very often (80–99%)
Cracked skin	Very often (80–99%)
Hair loss	Very often (80–99%)
Ichthyosis	Very often (80–99%)
Lack of sweating	Very often (80–99%)
Papule	Very often (80–99%)
Sparse hair	Very often (80–99%)
Thickened skin	Very often (80–99%)
Abnormality of the nail	Often (30–79%)
Chicken skin	Often (30–79%)
Decreased ability to sweat	Often (30–79%)
Follicular hyperkeratosis	Often (30–79%)
Hyperconvex fingernails	Often (30–79%)
Hyperkeratosis	Often (30–79%)
Hyperkeratotic papule	Often (30–79%)
Ichthyosis follicularis	Often (30–79%)
Itching	Often (30–79%)
Open skin sore	Often (30–79%)
Progressive alopecia	Often (30–79%)
Small fingernail	Often (30–79%)
Thin fingernail	Often (30–79%)
Dry skin	Sometimes (5–29%)
Periungual erythema	Sometimes (5–29%)
Poor fingernail formation	Sometimes (5–29%)
Poor nail formation	Sometimes (5–29%)
Skin cancer	Sometimes (5–29%)
Thickened, discolored skin under nail	Sometimes (5–29%)
Alopecia totalis	Not recorded
Atypical nail growth	Not recorded
Ectodermal dysplasia	Not recorded
Parakeratosis	Not recorded
Perifollicular fibrosis	Not recorded
Scaling skin	Not recorded
Thickening of upper layer of skin	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Very often (80–99%)
Abnormal dentition	Often (30–79%)
Abnormal eyelashes	Often (30–79%)
Abnormal nasolacrimal system morphology	Often (30–79%)
Absent eyebrow	Often (30–79%)
Asymmetry of the posterior head	Often (30–79%)
Beaked nose	Often (30–79%)
Cleft palate	Often (30–79%)
Dental cavities	Often (30–79%)
Failure of development of between one and six teeth	Often (30–79%)
Hair loss on scalp from scarring condition	Often (30–79%)
Sparse eyebrow	Often (30–79%)
Sparse eyelashes	Often (30–79%)
Thin eyebrow	Often (30–79%)
Abnormal tooth enamel	Sometimes (5–29%)
Abnormality of lining of mouth	Sometimes (5–29%)
Abnormality of the eyelid	Sometimes (5–29%)
Abnormality of the gums	Sometimes (5–29%)
Abnormality of the tongue	Sometimes (5–29%)
Blockage of the rear opening of the nasal cavity	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
Inflammation of eyelids	Sometimes (5–29%)
Inflammation of the lips	Sometimes (5–29%)
Narrowing of the rear opening of the nasal cavity	Sometimes (5–29%)
Pink eye	Sometimes (5–29%)
Recurrent colds	Sometimes (5–29%)
Sparse scalp hair	Sometimes (5–29%)
Absent eyelashes	Not recorded
Everted eyelid	Not recorded
Posterior blepharitis	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormal shape of brain	Very often (80–99%)
Epilepsy	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Intellectual disability, severe	Very often (80–99%)
Specific learning disability	Very often (80–99%)
Too much cerebrospinal fluid in the brain	Very often (80–99%)
Dementia	Often (30–79%)
Loss of developmental milestones	Often (30–79%)
Mental deterioration	Often (30–79%)
Absent septum pellucidum	Sometimes (5–29%)
Agenesis of corpus callosum	Sometimes (5–29%)
Cerebral cortical hemiatrophy	Sometimes (5–29%)
Chiari malformation	Sometimes (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Sometimes (5–29%)
Hydromyelia	Sometimes (5–29%)
Motor delay	Sometimes (5–29%)
Small cerebellum	Sometimes (5–29%)
Subcortical cerebral atrophy	Sometimes (5–29%)
Brain degeneration	Not recorded
Olivopontocerebellar atrophy	Not recorded
Underdevelopment of part of brain called corpus callosum	Not recorded
Ventriculomegaly	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Biconcave vertebral bodies	Always
Osteopenia	Always
Recurrent fractures	Always
Wedge-shaped vertebrae	Always
Ankylosis	Very often (80–99%)
Multiple fractures present at birth	Very often (80–99%)
Missing part of vertebrae	Often (30–79%)
Pigeon chest	Often (30–79%)
Scoliosis	Often (30–79%)
Abnormal shape of pelvis bone	Sometimes (5–29%)
Abnormal vertebral morphology	Sometimes (5–29%)
Abnormality of the vertebral column	Sometimes (5–29%)
Breakdown of bone	Sometimes (5–29%)
Butterfly vertebrae	Sometimes (5–29%)
Delayed bone maturation	Sometimes (5–29%)
Flattened vertebrae	Sometimes (5–29%)
Funnel chest	Sometimes (5–29%)
Hunched back	Sometimes (5–29%)
Low muscle tone	Sometimes (5–29%)
Small chest on one side	Not recorded

Abnormality of the eye

Trait	How often it is seen
Extreme sensitivity of the eyes to light	Very often (80–99%)
Optic nerve hypoplasia	Very often (80–99%)
Abnormally small eyeball	Often (30–79%)
Cat eye	Often (30–79%)
Damage to outer layer of the cornea of the eye	Often (30–79%)
Astigmatism	Sometimes (5–29%)
Blue outer white part of eyeball	Sometimes (5–29%)
Close sighted	Sometimes (5–29%)
Corneal dystrophy	Sometimes (5–29%)
Corneal inflammation	Sometimes (5–29%)
Corneal opacity	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Inflammation of the outer white part of the eye	Sometimes (5–29%)
Inflammation of the thin layer on top of the white part of eye	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
New blood vessel formation in cornea	Sometimes (5–29%)
Uveitis	Sometimes (5–29%)
Opacification of the corneal stroma	Not recorded
Recurrent breakdown of clear protective layer of eye	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Small kidneys	Very often (80–99%)
Underdeveloped bladder	Very often (80–99%)
Undescended testes	Very often (80–99%)
Decreased testicular size	Often (30–79%)
Renal dysplasia	Often (30–79%)
Vesicoureteral reflux	Often (30–79%)
Abnormality of the kidney	Sometimes (5–29%)
Abnormality of the upper urinary tract	Sometimes (5–29%)
Absent kidney	Sometimes (5–29%)
Absent kidney on one side	Sometimes (5–29%)
Hydronephrosis	Sometimes (5–29%)
Hydroureter	Sometimes (5–29%)
Hypospadias	Sometimes (5–29%)
Multicystic kidney dysplasia	Not recorded

Abnormality of limbs

Trait	How often it is seen
Bowed legs	Always
Disproportionately short upper portion of limb	Always
Bowing of the arm	Very often (80–99%)
Excessive sweating of palms and soles	Very often (80–99%)
Thickening of palms and soles	Very often (80–99%)
Cleft hand	Often (30–79%)
Extra little finger	Often (30–79%)
Abnormality of the hand	Sometimes (5–29%)
Hip dislocation	Sometimes (5–29%)
Oligodactyly	Sometimes (5–29%)
Permanent flexion of the finger	Sometimes (5–29%)
Thickening of the outer layer of the skin of the palms and soles	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Decreased immune function	Often (30–79%)
Eczema	Often (30–79%)
Folliculitis	Often (30–79%)
Recurrent bacterial infections	Often (30–79%)
Recurrent infections	Often (30–79%)
Recurrent respiratory infections	Often (30–79%)
Baby eczema	Sometimes (5–29%)
Recurrent skin infections	Sometimes (5–29%)
Red scaly skin caused by inflammatory skin disease	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Redness of skin or mucous membrane	Very often (80–99%)
Blushed cheeks	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
High blood pressure	Sometimes (5–29%)
Hives	Sometimes (5–29%)
Perianal erythema	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Enlarged colon lacking nerve cells	Often (30–79%)
Feeding difficulties	Often (30–79%)
Inguinal hernia	Sometimes (5–29%)
Omphalocele	Sometimes (5–29%)
Umbilical hernia	Not recorded

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Very often (80–99%)
Prominent ear	Very often (80–99%)
Hearing impairment	Often (30–79%)
Sensorineural hearing impairment	Often (30–79%)
Large ears	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay	Very often (80–99%)
Faltering weight	Often (30–79%)
Prenatal growth deficiency	Often (30–79%)
Severe short stature	Sometimes (5–29%)
Short stature	Not recorded

Laboratory abnormality

Trait	How often it is seen
Abnormality of temperature regulation	Often (30–79%)
Heat intolerance	Often (30–79%)

Abnormal tissue mass

Trait	How often it is seen
Cancer of skin pigment cells	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Low levels of amniotic fluid	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Lung cancer	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

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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