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Traits
Traits linked to LIPN
lipase family member N
The Human Phenotype Ontology links 46 traits to LIPN, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Hypergranulosis | Always |
| Hyperkeratosis | Always |
| Ichthyosis | Always |
| Orthokeratosis | Always |
| Thickening of upper layer of skin | Always |
| Cracked skin | Very often (80–99%) |
| Decreased ability to sweat | Very often (80–99%) |
| Dry skin | Very often (80–99%) |
| Eyebrow scaling skin | Very often (80–99%) |
| Generalized scaling | Very often (80–99%) |
| Itching | Very often (80–99%) |
| Poor nail formation | Very often (80–99%) |
| Stiff skin | Very often (80–99%) |
| Tight skin | Very often (80–99%) |
| Hair loss | Often (30–79%) |
| Sparse hair | Often (30–79%) |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Cicatricial ectropion | Often (30–79%) |
| Everted eyelid | Often (30–79%) |
| Eyelids stay open | Often (30–79%) |
| Hair loss on scalp from scarring condition | Often (30–79%) |
| Outward turned lips | Often (30–79%) |
| Sparse or absent eyebrows | Often (30–79%) |
| Chronic irritative conjunctivitis | Sometimes (5–29%) |
| Euryblepharon | Sometimes (5–29%) |
| Inflammation of eyelids | Sometimes (5–29%) |
| Loss of eyelashes | Sometimes (5–29%) |
| Punctal stenosis | Sometimes (5–29%) |
| Eyelid folded in | Rarely (1–4%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Corneal inflammation | Sometimes (5–29%) |
| Corneal ulceration | Sometimes (5–29%) |
| Bulging cornea | Rarely (1–4%) |
| Clouding of the lens of the eye | Rarely (1–4%) |
| Corneal perforation | Rarely (1–4%) |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Recurrent infections | Sometimes (5–29%) |
| Red scaly skin caused by inflammatory skin disease | Sometimes (5–29%) |
| Infection in blood stream | Rarely (1–4%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Abnormal helix morphology | Often (30–79%) |
| Conductive deafness | Rarely (1–4%) |
Constitutional symptom
| Trait | How often it is seen |
|---|---|
| Diminished health-related quality of life | Very often (80–99%) |
| Pain | Sometimes (5–29%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Heat intolerance | Very often (80–99%) |
| Dehydration | Sometimes (5–29%) |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Thickening of palms and soles | Very often (80–99%) |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| Amniotic constriction ring | Sometimes (5–29%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Redness of skin or mucous membrane | Not recorded |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Limb contractures | 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 LIPN and how often each is seen. Find out more at hpo.jax.org.
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