Trăsături

Trăsături asociate cu MBTPS2

membrane bound transcription factor peptidase, site 2

Human Phenotype Ontology asociază 189 trăsături cu MBTPS2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the integument

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

Abnormality of head or neck

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

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Abnormal shape of brain	Foarte des (80–99%)
Epilepsy	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Intellectual disability, severe	Foarte des (80–99%)
Specific learning disability	Foarte des (80–99%)
Too much cerebrospinal fluid in the brain	Foarte des (80–99%)
Dementia	Des (30–79%)
Loss of developmental milestones	Des (30–79%)
Mental deterioration	Des (30–79%)
Absent septum pellucidum	Uneori (5–29%)
Agenesis of corpus callosum	Uneori (5–29%)
Cerebral cortical hemiatrophy	Uneori (5–29%)
Chiari malformation	Uneori (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Uneori (5–29%)
Hydromyelia	Uneori (5–29%)
Motor delay	Uneori (5–29%)
Small cerebellum	Uneori (5–29%)
Subcortical cerebral atrophy	Uneori (5–29%)
Brain degeneration	Neînregistrat
Olivopontocerebellar atrophy	Neînregistrat
Underdevelopment of part of brain called corpus callosum	Neînregistrat
Ventriculomegaly	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Biconcave vertebral bodies	Întotdeauna
Osteopenia	Întotdeauna
Recurrent fractures	Întotdeauna
Wedge-shaped vertebrae	Întotdeauna
Ankylosis	Foarte des (80–99%)
Multiple fractures present at birth	Foarte des (80–99%)
Missing part of vertebrae	Des (30–79%)
Pigeon chest	Des (30–79%)
Scoliosis	Des (30–79%)
Abnormal shape of pelvis bone	Uneori (5–29%)
Abnormal vertebral morphology	Uneori (5–29%)
Abnormality of the vertebral column	Uneori (5–29%)
Breakdown of bone	Uneori (5–29%)
Butterfly vertebrae	Uneori (5–29%)
Delayed bone maturation	Uneori (5–29%)
Flattened vertebrae	Uneori (5–29%)
Funnel chest	Uneori (5–29%)
Hunched back	Uneori (5–29%)
Low muscle tone	Uneori (5–29%)
Small chest on one side	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Extreme sensitivity of the eyes to light	Foarte des (80–99%)
Optic nerve hypoplasia	Foarte des (80–99%)
Abnormally small eyeball	Des (30–79%)
Cat eye	Des (30–79%)
Damage to outer layer of the cornea of the eye	Des (30–79%)
Astigmatism	Uneori (5–29%)
Blue outer white part of eyeball	Uneori (5–29%)
Close sighted	Uneori (5–29%)
Corneal dystrophy	Uneori (5–29%)
Corneal inflammation	Uneori (5–29%)
Corneal opacity	Uneori (5–29%)
Drooping upper eyelid	Uneori (5–29%)
Inflammation of the outer white part of the eye	Uneori (5–29%)
Inflammation of the thin layer on top of the white part of eye	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
New blood vessel formation in cornea	Uneori (5–29%)
Uveitis	Uneori (5–29%)
Opacification of the corneal stroma	Neînregistrat
Recurrent breakdown of clear protective layer of eye	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Small kidneys	Foarte des (80–99%)
Underdeveloped bladder	Foarte des (80–99%)
Undescended testes	Foarte des (80–99%)
Decreased testicular size	Des (30–79%)
Renal dysplasia	Des (30–79%)
Vesicoureteral reflux	Des (30–79%)
Abnormality of the kidney	Uneori (5–29%)
Abnormality of the upper urinary tract	Uneori (5–29%)
Absent kidney	Uneori (5–29%)
Absent kidney on one side	Uneori (5–29%)
Hydronephrosis	Uneori (5–29%)
Hydroureter	Uneori (5–29%)
Hypospadias	Uneori (5–29%)
Multicystic kidney dysplasia	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Bowed legs	Întotdeauna
Disproportionately short upper portion of limb	Întotdeauna
Bowing of the arm	Foarte des (80–99%)
Excessive sweating of palms and soles	Foarte des (80–99%)
Thickening of palms and soles	Foarte des (80–99%)
Cleft hand	Des (30–79%)
Extra little finger	Des (30–79%)
Abnormality of the hand	Uneori (5–29%)
Hip dislocation	Uneori (5–29%)
Oligodactyly	Uneori (5–29%)
Permanent flexion of the finger	Uneori (5–29%)
Thickening of the outer layer of the skin of the palms and soles	Neînregistrat

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Decreased immune function	Des (30–79%)
Eczema	Des (30–79%)
Folliculitis	Des (30–79%)
Recurrent bacterial infections	Des (30–79%)
Recurrent infections	Des (30–79%)
Recurrent respiratory infections	Des (30–79%)
Baby eczema	Uneori (5–29%)
Recurrent skin infections	Uneori (5–29%)
Red scaly skin caused by inflammatory skin disease	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Redness of skin or mucous membrane	Foarte des (80–99%)
Blushed cheeks	Des (30–79%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
High blood pressure	Uneori (5–29%)
Hives	Uneori (5–29%)
Perianal erythema	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Enlarged colon lacking nerve cells	Des (30–79%)
Feeding difficulties	Des (30–79%)
Inguinal hernia	Uneori (5–29%)
Omphalocele	Uneori (5–29%)
Umbilical hernia	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Low-set ears	Foarte des (80–99%)
Prominent ear	Foarte des (80–99%)
Hearing impairment	Des (30–79%)
Sensorineural hearing impairment	Des (30–79%)
Large ears	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Growth delay	Foarte des (80–99%)
Faltering weight	Des (30–79%)
Prenatal growth deficiency	Des (30–79%)
Severe short stature	Uneori (5–29%)
Short stature	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Abnormality of temperature regulation	Des (30–79%)
Heat intolerance	Des (30–79%)

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Cancer of skin pigment cells	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Low levels of amniotic fluid	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Lung cancer	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu MBTPS2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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