Traits

Traits linked to BMPR1A

bone morphogenetic protein receptor type 1A

The Human Phenotype Ontology links 116 traits to BMPR1A, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the digestive system

Trait	How often it is seen
Adenomatous colonic polyposis	Always
Abdominal pain	Very often (80–99%)
Constipation	Very often (80–99%)
Diarrhea	Very often (80–99%)
Hyperplastic colonic polyposis	Very often (80–99%)
Malabsorption	Very often (80–99%)
Colon cancer	Often (30–79%)
Colorectal polyposis	Often (30–79%)
Gastrointestinal tract tumor	Often (30–79%)
Hamartomatous polyposis	Often (30–79%)
Juvenile colonic polyposis	Often (30–79%)
Multiple gastric polyps	Often (30–79%)
Nausea and vomiting	Often (30–79%)
Protein-losing enteropathy	Often (30–79%)
Rectal polyposis	Often (30–79%)
Rectal tumor	Often (30–79%)
Adenocarcinoma of the colon	Sometimes (5–29%)
Cancer of the pancreas	Sometimes (5–29%)
Colon tumor	Sometimes (5–29%)
Duodenal adenocarcinoma	Sometimes (5–29%)
Hepatocellular carcinoma	Sometimes (5–29%)
Intussusception	Sometimes (5–29%)
Pancreatic adenocarcinoma	Sometimes (5–29%)
Rectum protrudes through anus	Sometimes (5–29%)
Stomach tumor	Sometimes (5–29%)
Duodenal polyposis	Rarely (1–4%)
Gastrointestinal desmoid tumor	Rarely (1–4%)
Small intestinal polyposis	Rarely (1–4%)
Stomach cancer	Rarely (1–4%)

Abnormality of the nervous system

Trait	How often it is seen
Glioblastoma multiforme	Very often (80–99%)
Anxiety	Often (30–79%)
Attention deficit	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Depression	Often (30–79%)
Epilepsy	Often (30–79%)
Intellectual disability	Often (30–79%)
Irritability	Often (30–79%)
Migraine	Often (30–79%)
Rise in pressure inside skull	Often (30–79%)
Abnormal gait	Sometimes (5–29%)
Abnormal pyramidal sign	Sometimes (5–29%)
Abnormal speech pattern	Sometimes (5–29%)
Benign neoplasm of the central nervous system	Sometimes (5–29%)
Cancer of early nerve cells	Sometimes (5–29%)
Difficulty articulating speech	Sometimes (5–29%)
Disorder of involuntary muscle movements	Sometimes (5–29%)
Disturbed sensory perception	Sometimes (5–29%)
Dysgraphia	Sometimes (5–29%)
Hallucinations	Sometimes (5–29%)
Hemangioblastoma	Sometimes (5–29%)
Intellectual disability, mild	Sometimes (5–29%)
Loss of developmental milestones	Sometimes (5–29%)
Memory impairment	Sometimes (5–29%)
Motor delay	Sometimes (5–29%)
Paralysis or weakness of one side of body	Sometimes (5–29%)
Pins and needles feeling	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormal facial shape	Often (30–79%)
Big calvaria	Often (30–79%)
Large forehead	Often (30–79%)
Depressed nasal bridge	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
High, narrow palate	Sometimes (5–29%)
Narrow mouth	Sometimes (5–29%)
Short chin	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding tendency	Very often (80–99%)
Gastrointestinal bleeding	Very often (80–99%)
Low number of red blood cells or hemoglobin	Very often (80–99%)
Rectal bleeding	Very often (80–99%)
Black feces	Often (30–79%)
Refractory anemia	Often (30–79%)
Intestinal bleeding	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Freckled genitalia	Sometimes (5–29%)
Urinary tract neoplasm	Sometimes (5–29%)
Endometrial carcinoma	Rarely (1–4%)
Prostate cancer	Rarely (1–4%)
Uterine cancer	Rarely (1–4%)
Kidney cancer	Not recorded
Ovarian cancer	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Spasticity and rigidity of muscles	Often (30–79%)
Flexed joint that cannot be straightened	Sometimes (5–29%)
Generalized decreased muscle tone	Sometimes (5–29%)
Skeletal tumor	Sometimes (5–29%)
Underdeveloped middle portion of the collarbone	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Strawberry mark	Often (30–79%)
Abnormality of the heart	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Cardiac diverticulum	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Weight loss	Very often (80–99%)
Faltering weight	Often (30–79%)
Wasting syndrome	Often (30–79%)
Growth delay	Sometimes (5–29%)
Short stature	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Broad thumb	Sometimes (5–29%)
Clubbing of fingers	Sometimes (5–29%)
Clubbing of fingers and toes	Sometimes (5–29%)
Wide toe bones	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Often (30–79%)
Amaurosis fugax	Sometimes (5–29%)
Partial loss of field of vision	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Low albumin	Often (30–79%)
Abnormality of creatine metabolism	Sometimes (5–29%)
Fluid retention	Sometimes (5–29%)
Low blood potassium levels	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Neoplasm of the thyroid gland	Sometimes (5–29%)
Noncancerous tumor in pituitary gland	Sometimes (5–29%)
Thyroid carcinoma	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Anemic pallor	Often (30–79%)
Basal cell carcinoma	Sometimes (5–29%)
Subcutaneous lipoma	Rarely (1–4%)

Abnormality of the breast

Trait	How often it is seen
Breast tumor	Not recorded

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Very often (80–99%)

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 BMPR1A and how often each is seen. Find out more at hpo.jax.org.

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