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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

TraitKui sageli seda täheldatakse
Generalized osteoporosisAlati
Hunched backAlati
ArthritisVäga sageli (80–99%)
Breakdown of boneVäga sageli (80–99%)
Disease of the jointsVäga sageli (80–99%)
OsteopeniaVäga sageli (80–99%)
OsteoporosisVäga sageli (80–99%)
Abnormal vertebral body morphologySageli (30–79%)
Broad collarboneSageli (30–79%)
Increased susceptibility to fracturesMõnikord (5–29%)

Abnormality of the cardiovascular system

TraitKui sageli seda täheldatakse
Abnormality of the cardiovascular systemSageli (30–79%)
An opening in the wall separating the top two chambers of the heartMõnikord (5–29%)
Aortic valve has two leaflets rather than threeMõnikord (5–29%)
Double outlet right ventricleMõnikord (5–29%)
High blood pressureMõnikord (5–29%)
Hole in heart wall separating two lower heart chambersMõnikord (5–29%)
Interruption of electrical communication between upper and lower chambers of heartMõnikord (5–29%)
Mitral valve prolapseMõnikord (5–29%)
Narrowing of aortaMõnikord (5–29%)

Abnormality of head or neck

TraitKui sageli seda täheldatakse
Coarse facial featuresAlati
Abnormal facial shapeVäga sageli (80–99%)
Broad head shapeSageli (30–79%)
Sclerotic cranial suturesSageli (30–79%)
Abnormality of the eye regionMõnikord (5–29%)
Gum enlargementPole registreeritud

Abnormality of limbs

TraitKui sageli seda täheldatakse
Carpal osteolysisAlati
Osteolysis involving tarsal bonesAlati
Abnormal shape of handVäga sageli (80–99%)
Osteolysis involving bones of the lower limbsVäga sageli (80–99%)
Osteolysis involving bones of the upper limbsVäga sageli (80–99%)
Wide long bones of handSageli (30–79%)

Abnormality of the integument

TraitKui sageli seda täheldatakse
Excessive hairinessVäga sageli (80–99%)
Firm lump under the skinSageli (30–79%)
Localized skin lesionSageli (30–79%)
PterygiumMõnikord (5–29%)

Abnormality of the endocrine system

TraitKui sageli seda täheldatakse
Nodular goiterMõnikord (5–29%)
Premature breast developmentMõnikord (5–29%)

Abnormality of the eye

TraitKui sageli seda täheldatakse
Cat eyeMõnikord (5–29%)
PapilledemaMõnikord (5–29%)

Abnormality of the digestive system

TraitKui sageli seda täheldatakse
OmphaloceleMõnikord (5–29%)

Abnormality of the genitourinary system

TraitKui sageli seda täheldatakse
Polycystic ovariesMõnikord (5–29%)

Abnormality of the nervous system

TraitKui sageli seda täheldatakse
Intellectual disabilityMõnikord (5–29%)

Laboratory abnormality

TraitKui sageli seda täheldatakse
Type 1 diabetesMõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

  • 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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