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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.
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Abnormality of the integument
Abnormality of head or neck
Abnormality of the nervous system
| Trait | Hoe vaak het voorkomt |
|---|---|
| Abnormal shape of brain | Heel vaak (80–99%) |
| Epilepsy | Heel vaak (80–99%) |
| Global developmental delay | Heel vaak (80–99%) |
| Intellectual disability | Heel vaak (80–99%) |
| Intellectual disability, severe | Heel vaak (80–99%) |
| Specific learning disability | Heel vaak (80–99%) |
| Too much cerebrospinal fluid in the brain | Heel vaak (80–99%) |
| Dementia | Vaak (30–79%) |
| Loss of developmental milestones | Vaak (30–79%) |
| Mental deterioration | Vaak (30–79%) |
| Absent septum pellucidum | Soms (5–29%) |
| Agenesis of corpus callosum | Soms (5–29%) |
| Cerebral cortical hemiatrophy | Soms (5–29%) |
| Chiari malformation | Soms (5–29%) |
| Decrease in size of the outer layer of the brain due to loss of brain cells | Soms (5–29%) |
| Hydromyelia | Soms (5–29%) |
| Motor delay | Soms (5–29%) |
| Small cerebellum | Soms (5–29%) |
| Subcortical cerebral atrophy | Soms (5–29%) |
| Brain degeneration | Niet vastgelegd |
| Olivopontocerebellar atrophy | Niet vastgelegd |
| Underdevelopment of part of brain called corpus callosum | Niet vastgelegd |
| Ventriculomegaly | Niet vastgelegd |
Abnormality of the musculoskeletal system
| Trait | Hoe vaak het voorkomt |
|---|---|
| Biconcave vertebral bodies | Altijd |
| Osteopenia | Altijd |
| Recurrent fractures | Altijd |
| Wedge-shaped vertebrae | Altijd |
| Ankylosis | Heel vaak (80–99%) |
| Multiple fractures present at birth | Heel vaak (80–99%) |
| Missing part of vertebrae | Vaak (30–79%) |
| Pigeon chest | Vaak (30–79%) |
| Scoliosis | Vaak (30–79%) |
| Abnormal shape of pelvis bone | Soms (5–29%) |
| Abnormal vertebral morphology | Soms (5–29%) |
| Abnormality of the vertebral column | Soms (5–29%) |
| Breakdown of bone | Soms (5–29%) |
| Butterfly vertebrae | Soms (5–29%) |
| Delayed bone maturation | Soms (5–29%) |
| Flattened vertebrae | Soms (5–29%) |
| Funnel chest | Soms (5–29%) |
| Hunched back | Soms (5–29%) |
| Low muscle tone | Soms (5–29%) |
| Small chest on one side | Niet vastgelegd |
Abnormality of the eye
| Trait | Hoe vaak het voorkomt |
|---|---|
| Extreme sensitivity of the eyes to light | Heel vaak (80–99%) |
| Optic nerve hypoplasia | Heel vaak (80–99%) |
| Abnormally small eyeball | Vaak (30–79%) |
| Cat eye | Vaak (30–79%) |
| Damage to outer layer of the cornea of the eye | Vaak (30–79%) |
| Astigmatism | Soms (5–29%) |
| Blue outer white part of eyeball | Soms (5–29%) |
| Close sighted | Soms (5–29%) |
| Corneal dystrophy | Soms (5–29%) |
| Corneal inflammation | Soms (5–29%) |
| Corneal opacity | Soms (5–29%) |
| Drooping upper eyelid | Soms (5–29%) |
| Inflammation of the outer white part of the eye | Soms (5–29%) |
| Inflammation of the thin layer on top of the white part of eye | Soms (5–29%) |
| Involuntary, rapid, rhythmic eye movements | Soms (5–29%) |
| New blood vessel formation in cornea | Soms (5–29%) |
| Uveitis | Soms (5–29%) |
| Opacification of the corneal stroma | Niet vastgelegd |
| Recurrent breakdown of clear protective layer of eye | Niet vastgelegd |
Abnormality of the genitourinary system
| Trait | Hoe vaak het voorkomt |
|---|---|
| Small kidneys | Heel vaak (80–99%) |
| Underdeveloped bladder | Heel vaak (80–99%) |
| Undescended testes | Heel vaak (80–99%) |
| Decreased testicular size | Vaak (30–79%) |
| Renal dysplasia | Vaak (30–79%) |
| Vesicoureteral reflux | Vaak (30–79%) |
| Abnormality of the kidney | Soms (5–29%) |
| Abnormality of the upper urinary tract | Soms (5–29%) |
| Absent kidney | Soms (5–29%) |
| Absent kidney on one side | Soms (5–29%) |
| Hydronephrosis | Soms (5–29%) |
| Hydroureter | Soms (5–29%) |
| Hypospadias | Soms (5–29%) |
| Multicystic kidney dysplasia | Niet vastgelegd |
Abnormality of limbs
| Trait | Hoe vaak het voorkomt |
|---|---|
| Bowed legs | Altijd |
| Disproportionately short upper portion of limb | Altijd |
| Bowing of the arm | Heel vaak (80–99%) |
| Excessive sweating of palms and soles | Heel vaak (80–99%) |
| Thickening of palms and soles | Heel vaak (80–99%) |
| Cleft hand | Vaak (30–79%) |
| Extra little finger | Vaak (30–79%) |
| Abnormality of the hand | Soms (5–29%) |
| Hip dislocation | Soms (5–29%) |
| Oligodactyly | Soms (5–29%) |
| Permanent flexion of the finger | Soms (5–29%) |
| Thickening of the outer layer of the skin of the palms and soles | Niet vastgelegd |
Abnormality of the immune system
| Trait | Hoe vaak het voorkomt |
|---|---|
| Decreased immune function | Vaak (30–79%) |
| Eczema | Vaak (30–79%) |
| Folliculitis | Vaak (30–79%) |
| Recurrent bacterial infections | Vaak (30–79%) |
| Recurrent infections | Vaak (30–79%) |
| Recurrent respiratory infections | Vaak (30–79%) |
| Baby eczema | Soms (5–29%) |
| Recurrent skin infections | Soms (5–29%) |
| Red scaly skin caused by inflammatory skin disease | Niet vastgelegd |
Abnormality of the cardiovascular system
| Trait | Hoe vaak het voorkomt |
|---|---|
| Redness of skin or mucous membrane | Heel vaak (80–99%) |
| Blushed cheeks | Vaak (30–79%) |
| An opening in the wall separating the top two chambers of the heart | Soms (5–29%) |
| High blood pressure | Soms (5–29%) |
| Hives | Soms (5–29%) |
| Perianal erythema | Soms (5–29%) |
Abnormality of the digestive system
| Trait | Hoe vaak het voorkomt |
|---|---|
| Enlarged colon lacking nerve cells | Vaak (30–79%) |
| Feeding difficulties | Vaak (30–79%) |
| Inguinal hernia | Soms (5–29%) |
| Omphalocele | Soms (5–29%) |
| Umbilical hernia | Niet vastgelegd |
Abnormality of the ear
| Trait | Hoe vaak het voorkomt |
|---|---|
| Low-set ears | Heel vaak (80–99%) |
| Prominent ear | Heel vaak (80–99%) |
| Hearing impairment | Vaak (30–79%) |
| Sensorineural hearing impairment | Vaak (30–79%) |
| Large ears | Soms (5–29%) |
Growth abnormality
| Trait | Hoe vaak het voorkomt |
|---|---|
| Growth delay | Heel vaak (80–99%) |
| Faltering weight | Vaak (30–79%) |
| Prenatal growth deficiency | Vaak (30–79%) |
| Severe short stature | Soms (5–29%) |
| Short stature | Niet vastgelegd |
Laboratory abnormality
| Trait | Hoe vaak het voorkomt |
|---|---|
| Abnormality of temperature regulation | Vaak (30–79%) |
| Heat intolerance | Vaak (30–79%) |
Abnormal tissue mass
| Trait | Hoe vaak het voorkomt |
|---|---|
| Cancer of skin pigment cells | Soms (5–29%) |
Abnormality of prenatal development or birth
| Trait | Hoe vaak het voorkomt |
|---|---|
| Low levels of amniotic fluid | Niet vastgelegd |
Abnormality of the respiratory system
| Trait | Hoe vaak het voorkomt |
|---|---|
| Lung cancer | Soms (5–29%) |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Waar dit vandaan komt
- 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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