Trăsături

Trăsături asociate cu PPP1CB

protein phosphatase 1 catalytic subunit beta

Human Phenotype Ontology asociază 97 trăsături cu PPP1CB, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

PPP1CB

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Big calvaria	Întotdeauna
Deep philtrum	Întotdeauna
Deformity of the skull	Întotdeauna
High forehead	Întotdeauna
Limited hair on end of eyebrow	Întotdeauna
Narrow forehead	Întotdeauna
Low hairline at back of neck	Foarte des (80–99%)
Short nose	Foarte des (80–99%)
Sparse scalp hair	Foarte des (80–99%)
Webbed neck	Foarte des (80–99%)
Dandy-Walker malformation	Des (30–79%)
Downward slanting of the opening between the eyelids	Des (30–79%)
Eye folds	Des (30–79%)
High palate	Des (30–79%)
Nasal tip, upturned	Des (30–79%)
Prominent forehead	Des (30–79%)
Relatively large head	Des (30–79%)
Short neck	Des (30–79%)
Sparse or absent eyebrows	Des (30–79%)
Thin red part of the upper lip	Des (30–79%)
Abnormality of the palate	Uneori (5–29%)
Bifid uvula	Uneori (5–29%)
Broad neck	Uneori (5–29%)
Decreased volume of lip	Uneori (5–29%)
Dental cavities	Uneori (5–29%)
Facial hemangioma	Uneori (5–29%)
Frontal bossing	Uneori (5–29%)
Full lower lip	Uneori (5–29%)
High frontal hairline	Uneori (5–29%)
Highly arched eyebrow	Uneori (5–29%)
Long philtrum	Uneori (5–29%)
Narrowing of the tear duct	Uneori (5–29%)
Pit in front of the ear	Uneori (5–29%)
Smooth philtrum	Uneori (5–29%)
Triangular mouth	Uneori (5–29%)
Underdeveloped tissue around nostril	Uneori (5–29%)
Upward slanting of the opening between the eyelids	Uneori (5–29%)
Wide nose	Uneori (5–29%)
Widely spaced teeth	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Hole in heart wall separating two lower heart chambers	Întotdeauna
Complete right bundle branch block	Des (30–79%)
Enlarged and thickened heart muscle	Des (30–79%)
Narrowing of pulmonic valve	Des (30–79%)
Patent foramen ovale	Des (30–79%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Uneori (5–29%)
Mitral regurgitation	Uneori (5–29%)
Narrowing of aorta	Uneori (5–29%)
Narrowing of peripheral lung artery	Uneori (5–29%)
Tricuspid regurgitation	Uneori (5–29%)
Underdeveloped aortic arch	Uneori (5–29%)
Patent ductus arteriosus	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Coarse hair	Întotdeauna
Sparse hair	Întotdeauna
Slow-growing hair	Des (30–79%)
Abnormal fingernails	Uneori (5–29%)
Birthmark	Uneori (5–29%)
Curly hair	Uneori (5–29%)
Dermal translucency	Uneori (5–29%)
Freckling	Uneori (5–29%)
Thin skin	Uneori (5–29%)
Underdeveloped toenails	Uneori (5–29%)
Loose anagen hair	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Pigeon chest	Întotdeauna
Scoliosis	Întotdeauna
Delayed bone maturation	Foarte des (80–99%)
Double-Jointed	Des (30–79%)
Funnel chest	Des (30–79%)
Generalized decreased muscle tone	Des (30–79%)
Low muscle tone	Des (30–79%)
Abnormal intervertebral disk morphology	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Ears rotated toward back of head	Foarte des (80–99%)
Large ears	Des (30–79%)
Low-set ears	Des (30–79%)
Hearing impairment	Uneori (5–29%)
Overfolded ears	Uneori (5–29%)
Thickened helices	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Delayed speech and language development	Întotdeauna
Global developmental delay	Întotdeauna
Anxiety	Des (30–79%)
Too much cerebrospinal fluid in the brain	Des (30–79%)
Chiari type I malformation	Uneori (5–29%)
Intellectual disability	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Wide-set eyes	Des (30–79%)
Drooping upper eyelid	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Optic nerve hypoplasia	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties	Des (30–79%)
Feeding difficulties in infancy	Des (30–79%)
Chronic constipation	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Abnormality of the elbow	Uneori (5–29%)
Short fingers or toes	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Short stature	Foarte des (80–99%)
Faltering weight	Des (30–79%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
High levels of amniotic fluid	Întotdeauna

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Wide-spaced nipples	Întotdeauna

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Undescended testes	Des (30–79%)

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 PPP1CB și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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