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Trăsături

Trăsături asociate cu BMPR1A

bone morphogenetic protein receptor type 1A

Human Phenotype Ontology asociază 116 trăsături cu BMPR1A, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the digestive system

TrăsăturăCât de frecvent apare
Adenomatous colonic polyposisÎntotdeauna
Abdominal painFoarte des (80–99%)
ConstipationFoarte des (80–99%)
DiarrheaFoarte des (80–99%)
Hyperplastic colonic polyposisFoarte des (80–99%)
MalabsorptionFoarte des (80–99%)
Colon cancerDes (30–79%)
Colorectal polyposisDes (30–79%)
Gastrointestinal tract tumorDes (30–79%)
Hamartomatous polyposisDes (30–79%)
Juvenile colonic polyposisDes (30–79%)
Multiple gastric polypsDes (30–79%)
Nausea and vomitingDes (30–79%)
Protein-losing enteropathyDes (30–79%)
Rectal polyposisDes (30–79%)
Rectal tumorDes (30–79%)
Adenocarcinoma of the colonUneori (5–29%)
Cancer of the pancreasUneori (5–29%)
Colon tumorUneori (5–29%)
Duodenal adenocarcinomaUneori (5–29%)
Hepatocellular carcinomaUneori (5–29%)
IntussusceptionUneori (5–29%)
Pancreatic adenocarcinomaUneori (5–29%)
Rectum protrudes through anusUneori (5–29%)
Stomach tumorUneori (5–29%)
Duodenal polyposisRar (1–4%)
Gastrointestinal desmoid tumorRar (1–4%)
Small intestinal polyposisRar (1–4%)
Stomach cancerRar (1–4%)

Abnormality of the nervous system

TrăsăturăCât de frecvent apare
Glioblastoma multiformeFoarte des (80–99%)
AnxietyDes (30–79%)
Attention deficitDes (30–79%)
Behavioral abnormalityDes (30–79%)
DepressionDes (30–79%)
EpilepsyDes (30–79%)
Intellectual disabilityDes (30–79%)
IrritabilityDes (30–79%)
MigraineDes (30–79%)
Rise in pressure inside skullDes (30–79%)
Abnormal gaitUneori (5–29%)
Abnormal pyramidal signUneori (5–29%)
Abnormal speech patternUneori (5–29%)
Benign neoplasm of the central nervous systemUneori (5–29%)
Cancer of early nerve cellsUneori (5–29%)
Difficulty articulating speechUneori (5–29%)
Disorder of involuntary muscle movementsUneori (5–29%)
Disturbed sensory perceptionUneori (5–29%)
DysgraphiaUneori (5–29%)
HallucinationsUneori (5–29%)
HemangioblastomaUneori (5–29%)
Intellectual disability, mildUneori (5–29%)
Loss of developmental milestonesUneori (5–29%)
Memory impairmentUneori (5–29%)
Motor delayUneori (5–29%)
Paralysis or weakness of one side of bodyUneori (5–29%)
Pins and needles feelingUneori (5–29%)

Abnormality of head or neck

TrăsăturăCât de frecvent apare
Abnormal facial shapeDes (30–79%)
Big calvariaDes (30–79%)
Large foreheadDes (30–79%)
Depressed nasal bridgeUneori (5–29%)
Downward slanting of the opening between the eyelidsUneori (5–29%)
Frontal bossingUneori (5–29%)
High, narrow palateUneori (5–29%)
Narrow mouthUneori (5–29%)
Short chinUneori (5–29%)

Abnormality of blood and blood-forming tissues

TrăsăturăCât de frecvent apare
Bleeding tendencyFoarte des (80–99%)
Gastrointestinal bleedingFoarte des (80–99%)
Low number of red blood cells or hemoglobinFoarte des (80–99%)
Rectal bleedingFoarte des (80–99%)
Black fecesDes (30–79%)
Refractory anemiaDes (30–79%)
Intestinal bleedingUneori (5–29%)

Abnormality of the genitourinary system

TrăsăturăCât de frecvent apare
Freckled genitaliaUneori (5–29%)
Urinary tract neoplasmUneori (5–29%)
Endometrial carcinomaRar (1–4%)
Prostate cancerRar (1–4%)
Uterine cancerRar (1–4%)
Kidney cancerNeînregistrat
Ovarian cancerNeînregistrat

Abnormality of the musculoskeletal system

TrăsăturăCât de frecvent apare
Low muscle toneDes (30–79%)
Spasticity and rigidity of musclesDes (30–79%)
Flexed joint that cannot be straightenedUneori (5–29%)
Generalized decreased muscle toneUneori (5–29%)
Skeletal tumorUneori (5–29%)
Underdeveloped middle portion of the collarboneUneori (5–29%)

Abnormality of the cardiovascular system

TrăsăturăCât de frecvent apare
Strawberry markDes (30–79%)
Abnormality of the heartUneori (5–29%)
An opening in the wall separating the top two chambers of the heartUneori (5–29%)
Cardiac diverticulumUneori (5–29%)
Patent ductus arteriosusUneori (5–29%)

Growth abnormality

TrăsăturăCât de frecvent apare
Weight lossFoarte des (80–99%)
Faltering weightDes (30–79%)
Wasting syndromeDes (30–79%)
Growth delayUneori (5–29%)
Short statureUneori (5–29%)

Abnormality of limbs

TrăsăturăCât de frecvent apare
Broad thumbUneori (5–29%)
Clubbing of fingersUneori (5–29%)
Clubbing of fingers and toesUneori (5–29%)
Wide toe bonesUneori (5–29%)

Abnormality of the eye

TrăsăturăCât de frecvent apare
Wide-set eyesDes (30–79%)
Amaurosis fugaxUneori (5–29%)
Partial loss of field of visionUneori (5–29%)
Visual impairmentUneori (5–29%)

Laboratory abnormality

TrăsăturăCât de frecvent apare
Low albuminDes (30–79%)
Abnormality of creatine metabolismUneori (5–29%)
Fluid retentionUneori (5–29%)
Low blood potassium levelsNeînregistrat

Abnormality of the endocrine system

TrăsăturăCât de frecvent apare
Neoplasm of the thyroid glandUneori (5–29%)
Noncancerous tumor in pituitary glandUneori (5–29%)
Thyroid carcinomaRar (1–4%)

Abnormality of the integument

TrăsăturăCât de frecvent apare
Anemic pallorDes (30–79%)
Basal cell carcinomaUneori (5–29%)
Subcutaneous lipomaRar (1–4%)

Abnormality of the breast

TrăsăturăCât de frecvent apare
Breast tumorNeînregistrat

Abnormality of the ear

TrăsăturăCât de frecvent apare
Low-set earsUneori (5–29%)

Constitutional symptom

TrăsăturăCât de frecvent apare
FatigueFoarte des (80–99%)

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 BMPR1A și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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