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Traits
Traits linked to PORCN
porcupine O-acyltransferase
The Human Phenotype Ontology links 158 traits to PORCN, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the integument
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| 3-4 finger cutaneous syndactyly | Always |
| Shortened 4th long bone of hand | Always |
| Split hand | Always |
| Cleft hand | Often (30–79%) |
| Left and right leg differ in length or width | Often (30–79%) |
| Thickening of palms and soles | Often (30–79%) |
| Webbed fingers or toes | Often (30–79%) |
| Absent fingers or toes | Sometimes (5–29%) |
| More than five fingers or toes on hands or feet | Sometimes (5–29%) |
| Osteopathia striata | Sometimes (5–29%) |
| Transverse terminal limb defect | Sometimes (5–29%) |
| Absent fingers | Not recorded |
| Dislocated hip since birth | Not recorded |
| Duplication of bones of the toes | Not recorded |
| Extra little finger | Not recorded |
| Fused toes | Not recorded |
| Missing toes | Not recorded |
| Short finger | Not recorded |
| Short finger bones | Not recorded |
| Short fingers or toes | Not recorded |
| Short long bone of foot | Not recorded |
| Shortened long bone of hand | Not recorded |
| Split foot | Not recorded |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Pointed chin | Always |
| Facial asymmetry | Very often (80–99%) |
| Small head present at birth | Very often (80–99%) |
| Bad bite | Often (30–79%) |
| Broad nasal tip | Often (30–79%) |
| Decreased number of teeth | Often (30–79%) |
| Decreased size of maxilla | Often (30–79%) |
| Failure of development of between one and six teeth | Often (30–79%) |
| Narrow nasal bridge | Often (30–79%) |
| Thin dental enamel | Often (30–79%) |
| Underdeveloped tissue around nostril | Often (30–79%) |
| Cleft lip | Sometimes (5–29%) |
| Cleft nostril | Sometimes (5–29%) |
| Cleft palate | Sometimes (5–29%) |
| Everted eyelid | Rarely (1–4%) |
| Failure of development of more than six teeth | Rarely (1–4%) |
| Abnormally small head | Not recorded |
| Cleft upper lip | Not recorded |
| Delayed eruption of teeth | Not recorded |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Abnormally small eyeball | Often (30–79%) |
| Birth defect that causes a hole in the innermost layer at the back of the eye | Often (30–79%) |
| Cat eye | Often (30–79%) |
| Involuntary, rapid, rhythmic eye movements | Often (30–79%) |
| Absence of eyeballs | Sometimes (5–29%) |
| Clouding of the lens of the eye | Sometimes (5–29%) |
| Cornea of eye less than 10mm in diameter | Sometimes (5–29%) |
| Corneal opacity | Sometimes (5–29%) |
| Cross-eyed | Sometimes (5–29%) |
| Exophoria | Sometimes (5–29%) |
| Inward turning cross eyed | Sometimes (5–29%) |
| Absent iris | Not recorded |
| Decreased clarity of vision | Not recorded |
| Ectopia lentis | Not recorded |
| Optic atrophy | Not recorded |
| Visual impairment | Not recorded |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Hernia | Often (30–79%) |
| Hunched back | Often (30–79%) |
| Short long bone | Often (30–79%) |
| Abnormality of the ribs | Sometimes (5–29%) |
| Congenital diaphragmatic hernia | Sometimes (5–29%) |
| Kyphoscoliosis | Sometimes (5–29%) |
| Vertebral fusion | Sometimes (5–29%) |
| Giant cell tumor of bone | Rarely (1–4%) |
| Double-Jointed | Not recorded |
| Missing middle part of collarbone | Not recorded |
| Scoliosis | Not recorded |
| Short ribs | Not recorded |
| Underdeveloped middle portion of the collarbone | Not recorded |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Constipation | Often (30–79%) |
| Abdominal pain | Sometimes (5–29%) |
| Absence or narrowing of first part of small bowel | Sometimes (5–29%) |
| Acid reflux | Sometimes (5–29%) |
| Aerophagia | Sometimes (5–29%) |
| Inguinal hernia | Sometimes (5–29%) |
| Intestinal malrotation | Sometimes (5–29%) |
| Omphalocele | Sometimes (5–29%) |
| Umbilical hernia | Sometimes (5–29%) |
| Anteriorly placed anus | Not recorded |
| Gap between large left and right abdominal muscles | Not recorded |
| Stomach hernia | Not recorded |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Underdeveloped labia | Very often (80–99%) |
| Cystic kidney disease | Sometimes (5–29%) |
| Absent/small kidney | Rarely (1–4%) |
| Horseshoe kidney | Rarely (1–4%) |
| Hydronephrosis | Rarely (1–4%) |
| Bifid ureter | Not recorded |
| Double ureter | Not recorded |
| Small clitoris | Not recorded |
| Undescended testes | Not recorded |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Cognitive impairment | Often (30–79%) |
| Intellectual disability | Often (30–79%) |
| Split spine | Rarely (1–4%) |
| Agenesis of corpus callosum | Not recorded |
| Chiari malformation | Not recorded |
| Myelomeningocele | Not recorded |
| Spina bifida occulta | Not recorded |
| Too much cerebrospinal fluid in the brain | Not recorded |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Redness of skin or mucous membrane | Often (30–79%) |
| Telangiectasia of the skin | Often (30–79%) |
| Abnormality of the heart | Sometimes (5–29%) |
| Abdominal ectopia cordis | Rarely (1–4%) |
| Hole in heart wall separating two lower heart chambers | Rarely (1–4%) |
| increased pulmonary artery pressure | Rarely (1–4%) |
| Spider veins | Not recorded |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Abnormal helix morphology | Often (30–79%) |
| Hearing impairment | Sometimes (5–29%) |
| Low-set ears | Sometimes (5–29%) |
| Mixed hearing impairment | Not recorded |
| Narrow ear canal | Not recorded |
Abnormality of the breast
| Trait | How often it is seen |
|---|---|
| Absent nipple | Rarely (1–4%) |
| Accessory nipple | Rarely (1–4%) |
| Small nipples | Not recorded |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Absent/small lungs | Rarely (1–4%) |
| Laryngeal papilloma | Not recorded |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Food allergy | Sometimes (5–29%) |
Abnormality of the thoracic cavity
| Trait | How often it is seen |
|---|---|
| Abnormal mediastinum morphology | Rarely (1–4%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Short stature | Often (30–79%) |
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 PORCN and how often each is seen. Find out more at hpo.jax.org.
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