Traits

Traits linked to ABCB6

ATP binding cassette subfamily B member 6 (LAN blood group)

The Human Phenotype Ontology links 23 traits to ABCB6, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the integument

Trait	How often it is seen
Flat, discolored area of skin	Very often (80–99%)
Hyperpigmented skin patches	Very often (80–99%)
Patchy hypopigmentation	Very often (80–99%)
Patchy loss of skin color	Very often (80–99%)
Freckling	Often (30–79%)
Multiple birthmarks	Often (30–79%)
Photosensitive skin	Often (30–79%)
Hypopigmented macule	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Stomatocytosis	Often (30–79%)
Increased immature red blood cells	Sometimes (5–29%)
Increased mean corpuscular volume	Sometimes (5–29%)
Episodic hemolytic anemia	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Cat eye	Always
Inferior chorioretinal coloboma	Always
Abnormally small eyeball	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized muscle weakness	Not recorded
Muscle spasm	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Hand tremor	Not recorded
Periodic paralysis	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Short stature	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Increased circulating potassium concentration	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 ABCB6 and how often each is seen. Find out more at hpo.jax.org.

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