Traits

Traits linked to ANAPC1

anaphase promoting complex subunit 1

The Human Phenotype Ontology links 74 traits to ANAPC1, by body system: features seen in people with one of the gene's rare conditions.

ANAPC1

Abnormality of the integument

Trait	How often it is seen
Poikiloderma	Always
Abnormal blistering of the skin	Often (30–79%)
Atypical nail growth	Often (30–79%)
Birthmark	Often (30–79%)
Hyperkeratosis	Often (30–79%)
Patchy darkened skin	Often (30–79%)
Patchy lightened skin	Often (30–79%)
Skin degeneration	Often (30–79%)
Sparse hair	Often (30–79%)
Alopecia totalis	Sometimes (5–29%)
Poor nail formation	Sometimes (5–29%)
Skin cancer	Sometimes (5–29%)
Thin nail	Sometimes (5–29%)
Basal cell carcinoma	Rarely (1–4%)
Porokeratosis	Rarely (1–4%)
Squamous cell carcinoma	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Abnormal dentition	Often (30–79%)
Absent eyebrow	Often (30–79%)
Absent eyelashes	Often (30–79%)
Abnormal tooth enamel	Sometimes (5–29%)
Cone shaped tooth	Sometimes (5–29%)
Decreased number of teeth	Sometimes (5–29%)
Decreased size of tooth	Sometimes (5–29%)
Delayed eruption of teeth	Sometimes (5–29%)
Dental cavities	Sometimes (5–29%)
Facial puffiness	Sometimes (5–29%)
Sparse or absent eyebrows	Sometimes (5–29%)
Sparse or absent eyelashes	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Metaphyseal striations	Sometimes (5–29%)
Plantar hyperkeratosis	Sometimes (5–29%)
Abnormal ulnar metaphysis morphology	Rarely (1–4%)
Abnormality of the radial head	Rarely (1–4%)
Absent kneecap	Rarely (1–4%)
Fused finger bones	Rarely (1–4%)
Increased bone density in wide portion of long bone	Rarely (1–4%)
Outward bow-leggedness	Rarely (1–4%)
Short finger bones	Rarely (1–4%)
Shortened long bone of hand	Rarely (1–4%)
Small kneecap	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Multiple skeletal anomalies	Often (30–79%)
Abnormal trabecular bone morphology	Sometimes (5–29%)
Bone fracture	Sometimes (5–29%)
Delayed bone maturation	Sometimes (5–29%)
Osteoporosis	Sometimes (5–29%)
Bone cell cancer	Rarely (1–4%)
Calcium buildup in soft tissues of body	Rarely (1–4%)
Osteopenia	Rarely (1–4%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low blood neutrophil count	Sometimes (5–29%)
Low number of red blood cells or hemoglobin	Sometimes (5–29%)
Myelodysplasia	Sometimes (5–29%)
Aplastic anemia	Rarely (1–4%)
Blood cancer	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Diarrhea	Sometimes (5–29%)
Functional abnormality of the gastrointestinal tract	Sometimes (5–29%)
Nasogastric tube feeding	Sometimes (5–29%)
Vomiting	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased activity of gonads	Sometimes (5–29%)
Decreased function of male gonad	Sometimes (5–29%)
Underactive thyroid	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Attention deficit	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay	Often (30–79%)
Short stature	Often (30–79%)
Small for gestational age	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Blushed cheeks	Often (30–79%)
Spider veins	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Juvenile cataract	Always
Clouding of the lens of the eye at birth	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Early menopause	Often (30–79%)
Undescended testes	Often (30–79%)

Abnormal tissue mass

Trait	How often it is seen
Cancer of skin pigment cells	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Recurrent middle ear infection	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Abnormality of immune system physiology	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 ANAPC1 and how often each is seen. Find out more at hpo.jax.org.

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