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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

TraitCât de frecvent apare
Generalized osteoporosisÎntotdeauna
Hunched backÎntotdeauna
ArthritisFoarte des (80–99%)
Breakdown of boneFoarte des (80–99%)
Disease of the jointsFoarte des (80–99%)
OsteopeniaFoarte des (80–99%)
OsteoporosisFoarte des (80–99%)
Abnormal vertebral body morphologyDes (30–79%)
Broad collarboneDes (30–79%)
Increased susceptibility to fracturesUneori (5–29%)

Abnormality of the cardiovascular system

TraitCât de frecvent apare
Abnormality of the cardiovascular systemDes (30–79%)
An opening in the wall separating the top two chambers of the heartUneori (5–29%)
Aortic valve has two leaflets rather than threeUneori (5–29%)
Double outlet right ventricleUneori (5–29%)
High blood pressureUneori (5–29%)
Hole in heart wall separating two lower heart chambersUneori (5–29%)
Interruption of electrical communication between upper and lower chambers of heartUneori (5–29%)
Mitral valve prolapseUneori (5–29%)
Narrowing of aortaUneori (5–29%)

Abnormality of head or neck

TraitCât de frecvent apare
Coarse facial featuresÎntotdeauna
Abnormal facial shapeFoarte des (80–99%)
Broad head shapeDes (30–79%)
Sclerotic cranial suturesDes (30–79%)
Abnormality of the eye regionUneori (5–29%)
Gum enlargementNeînregistrat

Abnormality of limbs

TraitCât de frecvent apare
Carpal osteolysisÎntotdeauna
Osteolysis involving tarsal bonesÎntotdeauna
Abnormal shape of handFoarte des (80–99%)
Osteolysis involving bones of the lower limbsFoarte des (80–99%)
Osteolysis involving bones of the upper limbsFoarte des (80–99%)
Wide long bones of handDes (30–79%)

Abnormality of the integument

TraitCât de frecvent apare
Excessive hairinessFoarte des (80–99%)
Firm lump under the skinDes (30–79%)
Localized skin lesionDes (30–79%)
PterygiumUneori (5–29%)

Abnormality of the endocrine system

TraitCât de frecvent apare
Nodular goiterUneori (5–29%)
Premature breast developmentUneori (5–29%)

Abnormality of the eye

TraitCât de frecvent apare
Cat eyeUneori (5–29%)
PapilledemaUneori (5–29%)

Abnormality of the digestive system

TraitCât de frecvent apare
OmphaloceleUneori (5–29%)

Abnormality of the genitourinary system

TraitCât de frecvent apare
Polycystic ovariesUneori (5–29%)

Abnormality of the nervous system

TraitCât de frecvent apare
Intellectual disabilityUneori (5–29%)

Laboratory abnormality

TraitCât de frecvent apare
Type 1 diabetesUneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

  • 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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