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Traits
Traits linked to TGFB1
transforming growth factor beta 1
The Human Phenotype Ontology links 144 traits to TGFB1, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Bloody diarrhea | Always |
| Inability to properly digest food due to lack of pancreatic digestive enzymes | Very often (80–99%) |
| Malabsorption | Very often (80–99%) |
| Anoperineal fistula | Often (30–79%) |
| Candida esophagitis | Often (30–79%) |
| Eosinophilic infiltration of the esophagus | Often (30–79%) |
| Pancolitis | Often (30–79%) |
| Perianal abscess | Often (30–79%) |
| Abnormality of the liver | Sometimes (5–29%) |
| Acid reflux | Sometimes (5–29%) |
| Anorexia | Sometimes (5–29%) |
| Diarrhea | Sometimes (5–29%) |
| Enlarged liver | Sometimes (5–29%) |
| Fat in feces | Sometimes (5–29%) |
| Feeding difficulties in infancy | Sometimes (5–29%) |
| Meconium ileus | Sometimes (5–29%) |
| Pancreatic inflammation | Sometimes (5–29%) |
| Rectum protrudes through anus | Sometimes (5–29%) |
| Ileus | Rarely (1–4%) |
| Scar tissue replaces healthy tissue in the liver | Rarely (1–4%) |
| Biliary cirrhosis | Not recorded |
| Poor appetite | Not recorded |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Lower limb pain | Always |
| Abnormal skeletal development | Very often (80–99%) |
| Abnormality of the vertebral column | Very often (80–99%) |
| Bone overgrowth | Very often (80–99%) |
| Bone pain | Very often (80–99%) |
| Scoliosis | Very often (80–99%) |
| Involuntary muscle stiffness, contraction, or spasm | Often (30–79%) |
| Limb pain | Often (30–79%) |
| Limitation of joint mobility | Often (30–79%) |
| Muscle degeneration | Often (30–79%) |
| Muscle weakness | Often (30–79%) |
| Tired easily | Often (30–79%) |
| Abnormal shape of pelvic girdle bone | Sometimes (5–29%) |
| Hunched back | Sometimes (5–29%) |
| Osteopenia | Sometimes (5–29%) |
| Prominent swayback | Sometimes (5–29%) |
| Osteoporosis | Rarely (1–4%) |
| Generalized decreased muscle tone | Not recorded |
| Increased bone mineral density | Not recorded |
| Narrowing of medullary canal | Not recorded |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Degeneration of cerebrum | Always |
| Focal impaired awareness seizure | Often (30–79%) |
| Hypsarrhythmia | Often (30–79%) |
| Myoclonic seizure | Often (30–79%) |
| Waddling gait | Often (30–79%) |
| Abnormal speech pattern | Sometimes (5–29%) |
| Anxiety | Sometimes (5–29%) |
| Ataxia | Sometimes (5–29%) |
| Damage to nerves that sense feeling | Sometimes (5–29%) |
| Depression | Sometimes (5–29%) |
| Cranial nerve compression | Not recorded |
| Delayed CNS myelination | Not recorded |
| Encephalopathy | Not recorded |
| Global developmental delay | Not recorded |
| Headache | Not recorded |
| Out-toeing | Not recorded |
| Underdevelopment of part of brain called corpus callosum | Not recorded |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Abnormal humerus morphology | Very often (80–99%) |
| Abnormal morphology of the radius | Very often (80–99%) |
| Abnormal morphology of ulna | Very often (80–99%) |
| Abnormal shape of shaft of long bone | Very often (80–99%) |
| Abnormality of the thighbone | Very often (80–99%) |
| Aplasia/Hypoplasia of the radius | Very often (80–99%) |
| Cortical thickening of long bone diaphyses | Very often (80–99%) |
| Abnormality of the shankbone | Often (30–79%) |
| Clubbing of fingers | Often (30–79%) |
| Metaphyseal dysplasia | Often (30–79%) |
| Coxa valga | Sometimes (5–29%) |
| Dropped arches | Sometimes (5–29%) |
| Knock knees | Sometimes (5–29%) |
| Increased bone density in shaft of long bone | Not recorded |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Abnormality of the skull | Very often (80–99%) |
| Craniofacial osteosclerosis | Very often (80–99%) |
| Chronic sinus disease | Often (30–79%) |
| Abnormal facial shape | Sometimes (5–29%) |
| Bell's palsy | Sometimes (5–29%) |
| Delayed eruption of teeth | Sometimes (5–29%) |
| Dental cavities | Sometimes (5–29%) |
| Frontal bossing | Sometimes (5–29%) |
| Sinus disease | Sometimes (5–29%) |
| Nasal polyposis | Rarely (1–4%) |
| Big lower jaw | Not recorded |
| Dense bone of skull base | Not recorded |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Recurrent respiratory infections | Very often (80–99%) |
| Recurrent pneumonia | Often (30–79%) |
| Severe varicella zoster infection | Often (30–79%) |
| Asthma | Sometimes (5–29%) |
| Recurrent Aspergillus infection | Sometimes (5–29%) |
| Recurrent chest infections | Sometimes (5–29%) |
| Recurrent Haemophilus influenzae infection | Sometimes (5–29%) |
| Recurrent Staphylococcus aureus infection | Sometimes (5–29%) |
| Nontuberculous mycobacterial pulmonary infection | Rarely (1–4%) |
| Recurrent Burkholderia cepacia infection | Rarely (1–4%) |
| Recurrent infections in bronchi and lungs | Not recorded |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Obstructive lung disease | Very often (80–99%) |
| Permanent enlargement of the airways of the lungs | Very often (80–99%) |
| Decreased forced expiratory flow 25-75% | Often (30–79%) |
| Reduced forced expiratory volume in one second | Often (30–79%) |
| Coughing up blood | Sometimes (5–29%) |
| Reduced forced vital capacity | Sometimes (5–29%) |
| Collapsed lung | Rarely (1–4%) |
| Chronic lung disease | Not recorded |
| Hyperpolarized transepithelial nasal potential difference | Not recorded |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Elevated white blood count | Often (30–79%) |
| Hypochromic anemia | Often (30–79%) |
| Increased number of platelets in blood | Often (30–79%) |
| Decreased blood leukocyte number | Sometimes (5–29%) |
| Low number of red blood cells or hemoglobin | Sometimes (5–29%) |
| Bone marrow failure | Not recorded |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Elevated sweat chloride | Always |
| Elevated circulating aldolase concentration | Very often (80–99%) |
| Dehydration | Sometimes (5–29%) |
| High ESR | Sometimes (5–29%) |
| High liver enzymes | Sometimes (5–29%) |
| Elevated urine calcium levels | Not recorded |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Bulging eye | Often (30–79%) |
| Glaucoma | Sometimes (5–29%) |
| Optic atrophy | Sometimes (5–29%) |
| Optic nerve compression | Sometimes (5–29%) |
| Double vision | Not recorded |
Abnormal cellular phenotype
| Trait | How often it is seen |
|---|---|
| Increased circulating IgE concentration | Often (30–79%) |
| Increased circulating IgG concentration | Often (30–79%) |
| Abnormal T cell proliferation | Not recorded |
| Decreased T cell activation | Not recorded |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Cor pulmonale | Sometimes (5–29%) |
| Enlarged and thickened heart muscle | Sometimes (5–29%) |
| Increased spleen size | Sometimes (5–29%) |
| Enlarged liver and spleen | Rarely (1–4%) |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Absent vas deferens | Very often (80–99%) |
| Male infertility | Often (30–79%) |
| Urinary retention | Sometimes (5–29%) |
| Kidney stone | Rarely (1–4%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Wasting syndrome | Very often (80–99%) |
| Faltering weight | Often (30–79%) |
| Decreased body mass index | Sometimes (5–29%) |
| Slender build | Sometimes (5–29%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Salty tasting skin | Often (30–79%) |
| Abnormal fat tissue distribution below the skin | Sometimes (5–29%) |
| Reduced fat tissue below the skin | Not recorded |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Decreased activity of gonads | Sometimes (5–29%) |
| Delayed puberty | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Hearing impairment | Sometimes (5–29%) |
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 TGFB1 and how often each is seen. Find out more at hpo.jax.org.
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