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Traits

Traits linked to TFAP2A

transcription factor AP-2 alpha

The Human Phenotype Ontology links 94 traits to TFAP2A, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

TraitKui sageli seda täheldatakse
Deep philtrumVäga sageli (80–99%)
Drooping lower lipVäga sageli (80–99%)
Pit above the earVäga sageli (80–99%)
Pit behind the earVäga sageli (80–99%)
Pit in front of the earVäga sageli (80–99%)
Blocked tear ductSageli (30–79%)
Broad nasal tipSageli (30–79%)
Decreased number of teethSageli (30–79%)
Decreased size of toothSageli (30–79%)
Dimple chinSageli (30–79%)
High palateSageli (30–79%)
Long, narrow headSageli (30–79%)
Non-midline cleft of the upper lipSageli (30–79%)
Upward slanting of the opening between the eyelidsSageli (30–79%)
Wide nasal bridgeSageli (30–79%)
Bell's palsyMõnikord (5–29%)
Cleft of chinMõnikord (5–29%)
Cleft of the mouthMõnikord (5–29%)
Upper lip pitMõnikord (5–29%)
Abnormal dentitionPole registreeritud
Abnormally small headPole registreeritud
Branchial anomalyPole registreeritud
Cleft palatePole registreeritud
Cleft upper lipPole registreeritud
Corners of eye widely separatedPole registreeritud
Depressed nasal bridgePole registreeritud
Little lower jawPole registreeritud
Low hairline at back of neckPole registreeritud
Lower lip pitPole registreeritud
Short nasal septumPole registreeritud
Short neckPole registreeritud
Small foreheadPole registreeritud
Zygomatic flatteningPole registreeritud

Abnormality of the eye

TraitKui sageli seda täheldatakse
Notched pupilVäga sageli (80–99%)
Abnormally small eyeballSageli (30–79%)
Cat eyeSageli (30–79%)
Hole in the back of the eyeSageli (30–79%)
Clouding of the lens of the eyeMõnikord (5–29%)
Cornea of eye less than 10mm in diameterMõnikord (5–29%)
Cross-eyedMõnikord (5–29%)
Drooping upper eyelidMõnikord (5–29%)
Absence of eyeballsPole registreeritud
Close sightedPole registreeritud
Involuntary, rapid, rhythmic eye movementsPole registreeritud
Wide-set eyesPole registreeritud

Abnormality of the ear

TraitKui sageli seda täheldatakse
Abnormally shaped earsVäga sageli (80–99%)
Conductive deafnessVäga sageli (80–99%)
Ears rotated toward back of headVäga sageli (80–99%)
Hearing impairmentVäga sageli (80–99%)
Fusion of middle ear ossiclesPole registreeritud
Hypoplastic superior helixPole registreeritud
Low-set earsPole registreeritud
Overfolded earsPole registreeritud
Sensorineural hearing impairmentPole registreeritud
Small earsPole registreeritud

Abnormality of the integument

TraitKui sageli seda täheldatakse
Atypical scarring of skinVäga sageli (80–99%)
Abnormal fingernail developmentSageli (30–79%)
Premature graying of hairSageli (30–79%)
Sparse hairMõnikord (5–29%)
Absence of part of skin at birthPole registreeritud
Dermoid cystPole registreeritud
Skin degenerationPole registreeritud
Small fingernailPole registreeritud
White part of hair above foreheadPole registreeritud

Abnormality of limbs

TraitKui sageli seda täheldatakse
Extra thumbMõnikord (5–29%)
Attachment of thumb close to wristPole registreeritud
Curvature of little fingerPole registreeritud
Elbow flexion contracturePole registreeritud
Short thumbPole registreeritud
Single transverse palmar creasePole registreeritud

Abnormality of the genitourinary system

TraitKui sageli seda täheldatakse
Absent kidneyMõnikord (5–29%)
HydronephrosisMõnikord (5–29%)
Multicystic kidney dysplasiaMõnikord (5–29%)
Cystic kidney diseasePole registreeritud
HypospadiasPole registreeritud
Undescended testesPole registreeritud

Abnormality of the nervous system

TraitKui sageli seda täheldatakse
Abnormal speech patternSageli (30–79%)
Agenesis of cerebellar vermisPole registreeritud
EpilepsyPole registreeritud
Intellectual disability, mildPole registreeritud

Abnormality of the digestive system

TraitKui sageli seda täheldatakse
Acid refluxPole registreeritud
Malrotation of colonPole registreeritud
Pyloric stenosisPole registreeritud

Growth abnormality

TraitKui sageli seda täheldatakse
Growth delay as childrenSageli (30–79%)
Prenatal growth deficiencySageli (30–79%)
Short statureSageli (30–79%)

Abnormality of the breast

TraitKui sageli seda täheldatakse
Accessory nipplePole registreeritud
Wide-spaced nipplesPole registreeritud

Abnormality of the cardiovascular system

TraitKui sageli seda täheldatakse
Strawberry markVäga sageli (80–99%)
Abnormal thymus positionPole registreeritud

Abnormality of the musculoskeletal system

TraitKui sageli seda täheldatakse
Hunched backPole registreeritud
Prominent swaybackPole registreeritud

Abnormal tissue mass

TraitKui sageli seda täheldatakse
HamartomaPole registreeritud

Abnormality of the voice

TraitKui sageli seda täheldatakse
Nasal speechSageli (30–79%)

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 TFAP2A and how often each is seen. Find out more at hpo.jax.org.

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