Traits

Traits linked to GGCX

gamma-glutamyl carboxylase

The Human Phenotype Ontology links 62 traits to GGCX, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Abnormal vaginal bleeding	Always
Bleeding gums	Always
Bloody nose	Always
Bruising susceptibility	Always
Gastrointestinal bleeding	Always
Prolonged partial thromboplastin time	Always
Prolonged prothrombin time	Always
Reduced factor IX activity	Always
Reduced factor VII activity	Always
Reduced factor VIII activity	Always
Reduced factor X activity	Always
Reduced protein S activity	Always
Abnormality of coagulation	Very often (80–99%)
Bleeding tendency	Often (30–79%)
Decreased level of heparin co-factor II	Often (30–79%)
Reduced protein C activity	Often (30–79%)
Abnormally heavy bleeding during menstruation	Sometimes (5–29%)
Bleeding in brain	Sometimes (5–29%)
Bleeding post-delivery	Sometimes (5–29%)
Bleeding within a joint	Sometimes (5–29%)
Bleeding within the skull	Sometimes (5–29%)
Cephalohematoma	Sometimes (5–29%)
Ecchymosis	Sometimes (5–29%)
Prolonged bleeding following circumcision	Sometimes (5–29%)
Prolonged bleeding following procedure	Sometimes (5–29%)
Abnormal umbilical stump bleeding	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Endocarditis	Always
Narrowing of peripheral lung artery	Always
Stroke	Always
Supravalvar pulmonary stenosis	Always
Narrowing of blood vessels in back of eye	Very often (80–99%)
Brain aneurysm	Often (30–79%)
Narrowing and hardening of arteries	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Rarely (1–4%)
Hole in heart wall separating two lower heart chambers	Rarely (1–4%)
Narrowing of lung artery	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Difficulties with night vision	Always
Rod-cone dystrophy	Always
Absent retinal pigment epithelium	Very often (80–99%)
Cross-eyed	Very often (80–99%)
Optic nerve issue	Very often (80–99%)
Abnormal fundus morphology	Often (30–79%)
Angioid streaks	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Flat, discolored area of skin	Always
Fragmented elastic fibers in the dermis	Always
Hanging skin	Always
Increased number of skin folds	Always
Loose redundant skin	Always
Papule	Very often (80–99%)
Yellow papule	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Depressed nasal bridge	Always
Long philtrum	Always
Midface retrusion	Always
Redundant neck skin	Always
Decreased size of nasal bone	Sometimes (5–29%)
Short nose	Not recorded

Abnormality of limbs

Trait	How often it is seen
Shortening of all outermost bones of the fingers	Sometimes (5–29%)
Short outermost finger bone	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Osteoporosis	Sometimes (5–29%)
Speckled calcifications in end part of bone	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Focal segmental glomerulosclerosis	Always

Laboratory abnormality

Trait	How often it is seen
Peau d'orange	Always

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 GGCX and how often each is seen. Find out more at hpo.jax.org.

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