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Tunnused

Geeniga MAF seotud tunnused

MAF bZIP transcription factor

Inimese fenotüübi ontoloogia seostab geeniga MAF 93 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of head or neck

TunnusKui sageli seda täheldatakse
Midface retrusionAlati
Flat faceVäga sageli (80–99%)
Short noseVäga sageli (80–99%)
Abnormal dentitionSageli (30–79%)
Asymmetric crying faceSageli (30–79%)
Asymmetry of the posterior headSageli (30–79%)
Broad eyebrowSageli (30–79%)
Broad head shapeSageli (30–79%)
Cleft palateSageli (30–79%)
Decreased depth of eye socketsSageli (30–79%)
Depressed nasal bridgeSageli (30–79%)
Downward slanting of the opening between the eyelidsSageli (30–79%)
Failure of development of more than six teethSageli (30–79%)
High foreheadSageli (30–79%)
Long philtrumSageli (30–79%)
Narrow mouthSageli (30–79%)
Prominent metopic ridgeSageli (30–79%)
Sparse scalp hairSageli (30–79%)
Thin red part of the upper lipSageli (30–79%)
Upward slanting of the opening between the eyelidsSageli (30–79%)
Wide fontanellesSageli (30–79%)
Abnormality of craniofacial shapeMõnikord (5–29%)
Big lower jawMõnikord (5–29%)
Deformity of the skullMõnikord (5–29%)
Delayed cranial suture closureMõnikord (5–29%)
J-shaped sella turcicaMõnikord (5–29%)
Long eyelashesMõnikord (5–29%)
Broad philtrumPole registreeritud
Smooth philtrumPole registreeritud
Wide nasal bridgePole registreeritud
Zygomatic flatteningPole registreeritud

Abnormality of the eye

TunnusKui sageli seda täheldatakse
Clouding of the lens of the eyeVäga sageli (80–99%)
Clouding of the lens of the eye at birthVäga sageli (80–99%)
Cornea of eye less than 10mm in diameterVäga sageli (80–99%)
Close sightedSageli (30–79%)
Cortical pulverulent cataractSageli (30–79%)
Drooping of both upper eyelidsSageli (30–79%)
Visual impairmentSageli (30–79%)
Wide-set eyesSageli (30–79%)
Cat eyeMõnikord (5–29%)
Corneal dystrophyMõnikord (5–29%)
Corneal opacityMõnikord (5–29%)
Enlarged corneaMõnikord (5–29%)
GlaucomaMõnikord (5–29%)
Involuntary, rapid, rhythmic eye movementsMõnikord (5–29%)
Macular hypoplasiaMõnikord (5–29%)
Peters anomalyMõnikord (5–29%)
Retinal detachmentMõnikord (5–29%)
Severe near sightednessMõnikord (5–29%)
Cerulean cataractPole registreeritud
Drooping upper eyelidPole registreeritud

Abnormality of the nervous system

TunnusKui sageli seda täheldatakse
Intellectual disabilityAlati
EpilepsyVäga sageli (80–99%)
Global developmental delayVäga sageli (80–99%)
Chiari type I malformationSageli (30–79%)
Decrease in size of the outer layer of the brain due to loss of brain cellsSageli (30–79%)
EEG abnormalitySageli (30–79%)
Too much cerebrospinal fluid in the brainSageli (30–79%)
VentriculomegalySageli (30–79%)
Degeneration of cerebrumMõnikord (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)Mõnikord (5–29%)
Underdevelopment of part of brain called corpus callosumMõnikord (5–29%)

Abnormality of the musculoskeletal system

TunnusKui sageli seda täheldatakse
Decreased muscle tone in infantSageli (30–79%)
Limitation of joint mobilitySageli (30–79%)
Permanent flexion of the finger or toeSageli (30–79%)
Abnormality of the chestMõnikord (5–29%)
Congenital diaphragmatic herniaMõnikord (5–29%)
Extra ribsMõnikord (5–29%)
Funnel chestMõnikord (5–29%)
ScoliosisMõnikord (5–29%)

Abnormality of limbs

TunnusKui sageli seda täheldatakse
Short fingers or toesVäga sageli (80–99%)
Curvature of little fingerSageli (30–79%)
Rocker bottom footSageli (30–79%)
Tapered fingerSageli (30–79%)
Fused forearm bonesMõnikord (5–29%)
Reduced arm spanMõnikord (5–29%)

Abnormality of the ear

TunnusKui sageli seda täheldatakse
Hearing impairmentAlati
Ears rotated toward back of headSageli (30–79%)
Low-set earsSageli (30–79%)
Sensorineural hearing impairmentSageli (30–79%)
Small earsSageli (30–79%)
Narrow ear canalMõnikord (5–29%)

Abnormality of the cardiovascular system

TunnusKui sageli seda täheldatakse
Swelling or irritation of membrane around heartSageli (30–79%)
Abnormal cardiovascular system morphologyMõnikord (5–29%)
Fluid around heartMõnikord (5–29%)
Patent ductus arteriosusMõnikord (5–29%)

Growth abnormality

TunnusKui sageli seda täheldatakse
Growth delay as childrenVäga sageli (80–99%)
Short statureSageli (30–79%)

Abnormality of the breast

TunnusKui sageli seda täheldatakse
Underdeveloped breastsMõnikord (5–29%)

Abnormality of the digestive system

TunnusKui sageli seda täheldatakse
Inguinal herniaMõnikord (5–29%)

Abnormality of the genitourinary system

TunnusKui sageli seda täheldatakse
Undescended testesSageli (30–79%)

Abnormality of the integument

TunnusKui sageli seda täheldatakse
Poor nail formationMõnikord (5–29%)

Laboratory abnormality

TunnusKui sageli seda täheldatakse
High urine protein levelsMõnikord (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

  • Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga MAF seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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