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Traits
Traits linked to ARHGAP31
Rho GTPase activating protein 31
The Human Phenotype Ontology links 74 traits to ARHGAP31, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Cutis marmorata | Very often (80–99%) |
| Abnormal pulmonary valve morphology | Often (30–79%) |
| Pulmonary artery atresia | Often (30–79%) |
| Tetralogy of Fallot | Often (30–79%) |
| Arteriovenous malformation | Sometimes (5–29%) |
| Increased blood pressure in blood vessels of lungs | Sometimes (5–29%) |
| Portal hypertension | Sometimes (5–29%) |
| An opening in the wall separating the top two chambers of the heart | Not recorded |
| Aortic valve has two leaflets rather than three | Not recorded |
| High blood pressure | Not recorded |
| Hole in heart wall separating two lower heart chambers | Not recorded |
| Narrowing of aortic valve | Not recorded |
| Narrowing of lung artery | Not recorded |
| Narrowing of pulmonic valve | Not recorded |
| Underdeveloped left heart | Not recorded |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Abnormality of the lower limb | Very often (80–99%) |
| Abnormality of the upper limb | Very often (80–99%) |
| Absent hand | Very often (80–99%) |
| Absent toe | Very often (80–99%) |
| Abnormal shape of long bones of hand | Often (30–79%) |
| Finger syndactyly | Often (30–79%) |
| Short fingers or toes | Often (30–79%) |
| Short outermost finger bone | Often (30–79%) |
| Split hand | Often (30–79%) |
| Talipes | Often (30–79%) |
| Club feet | Not recorded |
| Fused toes | Not recorded |
| Transverse terminal lower limb defect | Not recorded |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Too much cerebrospinal fluid in the brain | Often (30–79%) |
| Cavity within brain | Sometimes (5–29%) |
| EEG abnormality | Sometimes (5–29%) |
| Epilepsy | Sometimes (5–29%) |
| Intellectual disability | Sometimes (5–29%) |
| Periventricular leukomalacia | Sometimes (5–29%) |
| Weakness of one side of body | Sometimes (5–29%) |
| Cortical dysplasia | Not recorded |
| Fewer and broader ridges in brain | Not recorded |
| Global developmental delay | Not recorded |
| More grooves in brain | Not recorded |
| Underdevelopment of part of brain called corpus callosum | Not recorded |
| Ventriculomegaly | Not recorded |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Absence of part of skin at birth | Very often (80–99%) |
| Absent/small skin | Very often (80–99%) |
| Sparse hair | Very often (80–99%) |
| Absent fingernail | Sometimes (5–29%) |
| Absent/small toenails | Sometimes (5–29%) |
| Hair loss | Sometimes (5–29%) |
| Small fingernail | Sometimes (5–29%) |
| Aplasia cutis congenita on trunk or limbs | Not recorded |
| Aplasia cutis congenita over posterior parietal area | Not recorded |
| Small nail | Not recorded |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Cranial defect | Very often (80–99%) |
| Encephalocele | Sometimes (5–29%) |
| Abnormally small head | Not recorded |
| Cleft palate | Not recorded |
| Cleft upper lip | Not recorded |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Accumulation of fluid in the abdomen | Sometimes (5–29%) |
| Enlarged vein in esophagus | Sometimes (5–29%) |
| Excessive buildup of connective tissue and scarring of liver at birth | Sometimes (5–29%) |
| Scar tissue replaces healthy tissue in the liver | Sometimes (5–29%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Abnormally small eyeball | Often (30–79%) |
| Clouding of the lens of the eye | Often (30–79%) |
| Cross-eyed | Often (30–79%) |
| Inward turning cross eyed | Not recorded |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Decreased blood leukocyte number | Sometimes (5–29%) |
| Gastrointestinal bleeding | Sometimes (5–29%) |
| Low platelet count | Sometimes (5–29%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Spasticity and rigidity of muscles | Sometimes (5–29%) |
| Generalized decreased muscle tone | Not recorded |
| Low muscle tone | Not recorded |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| Premature birth | Sometimes (5–29%) |
Abnormality of the breast
| Trait | How often it is seen |
|---|---|
| Accessory nipple | Always |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Imperforate hymen | Not recorded |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Faltering weight | 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 ARHGAP31 and how often each is seen. Find out more at hpo.jax.org.
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