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Traits

Traits linked to MMP14

matrix metallopeptidase 14

The Human Phenotype Ontology links 43 traits to MMP14, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

TraitHvor ofte det ses
Generalized osteoporosisAltid
Hunched backAltid
ArthritisMeget ofte (80–99 %)
Breakdown of boneMeget ofte (80–99 %)
Disease of the jointsMeget ofte (80–99 %)
OsteopeniaMeget ofte (80–99 %)
OsteoporosisMeget ofte (80–99 %)
Abnormal vertebral body morphologyOfte (30–79 %)
Broad collarboneOfte (30–79 %)
Increased susceptibility to fracturesNogle gange (5–29 %)

Abnormality of the cardiovascular system

TraitHvor ofte det ses
Abnormality of the cardiovascular systemOfte (30–79 %)
An opening in the wall separating the top two chambers of the heartNogle gange (5–29 %)
Aortic valve has two leaflets rather than threeNogle gange (5–29 %)
Double outlet right ventricleNogle gange (5–29 %)
High blood pressureNogle gange (5–29 %)
Hole in heart wall separating two lower heart chambersNogle gange (5–29 %)
Interruption of electrical communication between upper and lower chambers of heartNogle gange (5–29 %)
Mitral valve prolapseNogle gange (5–29 %)
Narrowing of aortaNogle gange (5–29 %)

Abnormality of head or neck

TraitHvor ofte det ses
Coarse facial featuresAltid
Abnormal facial shapeMeget ofte (80–99 %)
Broad head shapeOfte (30–79 %)
Sclerotic cranial suturesOfte (30–79 %)
Abnormality of the eye regionNogle gange (5–29 %)
Gum enlargementIkke registreret

Abnormality of limbs

TraitHvor ofte det ses
Carpal osteolysisAltid
Osteolysis involving tarsal bonesAltid
Abnormal shape of handMeget ofte (80–99 %)
Osteolysis involving bones of the lower limbsMeget ofte (80–99 %)
Osteolysis involving bones of the upper limbsMeget ofte (80–99 %)
Wide long bones of handOfte (30–79 %)

Abnormality of the integument

TraitHvor ofte det ses
Excessive hairinessMeget ofte (80–99 %)
Firm lump under the skinOfte (30–79 %)
Localized skin lesionOfte (30–79 %)
PterygiumNogle gange (5–29 %)

Abnormality of the endocrine system

TraitHvor ofte det ses
Nodular goiterNogle gange (5–29 %)
Premature breast developmentNogle gange (5–29 %)

Abnormality of the eye

TraitHvor ofte det ses
Cat eyeNogle gange (5–29 %)
PapilledemaNogle gange (5–29 %)

Abnormality of the digestive system

TraitHvor ofte det ses
OmphaloceleNogle gange (5–29 %)

Abnormality of the genitourinary system

TraitHvor ofte det ses
Polycystic ovariesNogle gange (5–29 %)

Abnormality of the nervous system

TraitHvor ofte det ses
Intellectual disabilityNogle gange (5–29 %)

Laboratory abnormality

TraitHvor ofte det ses
Type 1 diabetesNogle gange (5–29 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to MMP14 and how often each is seen. Find out more at hpo.jax.org.

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