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Tunnused

Geeniga SMARCD1 seotud tunnused

SWI/SNF related BAF chromatin remodeling complex subunit D1

Inimese fenotüübi ontoloogia seostab geeniga SMARCD1 84 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of head or neck

TunnusKui sageli seda täheldatakse
Coarse facial featuresVäga sageli (80–99%)
Full lower lipVäga sageli (80–99%)
Prominent eyelashesVäga sageli (80–99%)
Thick eyebrowVäga sageli (80–99%)
Wide mouthVäga sageli (80–99%)
Abnormal facial shapeSageli (30–79%)
Broad nasal tipSageli (30–79%)
Broad philtrumSageli (30–79%)
Delayed eruption of teethSageli (30–79%)
Depressed nasal bridgeSageli (30–79%)
High palateSageli (30–79%)
Low frontal hairlineSageli (30–79%)
Low hairline at back of neckSageli (30–79%)
Nasal tip, upturnedSageli (30–79%)
Recurrent coldsSageli (30–79%)
Short noseSageli (30–79%)
Sparse scalp hairSageli (30–79%)
Thick nasal alaeSageli (30–79%)
Thin red part of the upper lipSageli (30–79%)
Wide nasal baseSageli (30–79%)
Bifid uvulaMõnikord (5–29%)
Bulbous noseMõnikord (5–29%)
Cleft soft palateMõnikord (5–29%)
Dandy-Walker malformationMõnikord (5–29%)
Downturned corners of mouthMõnikord (5–29%)
Frontal bossingMõnikord (5–29%)
Narrow foreheadMõnikord (5–29%)
Prominent metopic ridgeMõnikord (5–29%)
Abnormally small headHarva (1–4%)

Abnormality of the nervous system

TunnusKui sageli seda täheldatakse
Delayed speech and language developmentAlati
Global developmental delayAlati
Intellectual disabilityAlati
Delayed ability to walkVäga sageli (80–99%)
Behavioral abnormalitySageli (30–79%)
EpilepsySageli (30–79%)
Intellectual disability, severeSageli (30–79%)
IQ between 34 and 49Sageli (30–79%)
Absent speech developmentMõnikord (5–29%)
Agenesis of corpus callosumMõnikord (5–29%)
Aggressive behaviorMõnikord (5–29%)
Autism spectrum disorderMõnikord (5–29%)
More active than typicalMõnikord (5–29%)
Oral aversionMõnikord (5–29%)
Simplified gyral patternMõnikord (5–29%)

Abnormality of the musculoskeletal system

TunnusKui sageli seda täheldatakse
Decreased muscle tone in infantSageli (30–79%)
Delayed bone maturationSageli (30–79%)
Double-JointedSageli (30–79%)
Low muscle toneSageli (30–79%)
ScoliosisSageli (30–79%)
HerniaMõnikord (5–29%)

Abnormality of the cardiovascular system

TunnusKui sageli seda täheldatakse
Abnormality of the heartSageli (30–79%)
An opening in the wall separating the top two chambers of the heartMõnikord (5–29%)
Hole in heart wall separating two lower heart chambersMõnikord (5–29%)
Patent ductus arteriosusMõnikord (5–29%)
Tetralogy of FallotMõnikord (5–29%)

Abnormality of the eye

TunnusKui sageli seda täheldatakse
Cross-eyedSageli (30–79%)
Drooping upper eyelidSageli (30–79%)
Visual impairmentSageli (30–79%)
Close sightedMõnikord (5–29%)
Wide-set eyesMõnikord (5–29%)

Abnormality of the integument

TunnusKui sageli seda täheldatakse
Excessive hair growthVäga sageli (80–99%)
Small nailVäga sageli (80–99%)
Excessive hairinessSageli (30–79%)
Small fifth toenailSageli (30–79%)
Underdeveloped fifth fingernailSageli (30–79%)

Abnormality of the digestive system

TunnusKui sageli seda täheldatakse
Feeding difficulties in infancyAlati
Feeding difficultiesVäga sageli (80–99%)
Birth defect in which part of esophagus did not developMõnikord (5–29%)
HepatoblastomaHarva (1–4%)

Abnormality of the genitourinary system

TunnusKui sageli seda täheldatakse
Abnormality of the genitourinary systemSageli (30–79%)
Undescended testesSageli (30–79%)
Horseshoe kidneyMõnikord (5–29%)
HypospadiasMõnikord (5–29%)

Abnormality of limbs

TunnusKui sageli seda täheldatakse
Curvature of digitSageli (30–79%)
Short 5th fingerSageli (30–79%)
Small handSageli (30–79%)

Growth abnormality

TunnusKui sageli seda täheldatakse
Growth delaySageli (30–79%)
Growth delay as childrenSageli (30–79%)
Prenatal growth deficiencyHarva (1–4%)

Abnormality of the ear

TunnusKui sageli seda täheldatakse
Hearing impairmentSageli (30–79%)
Uplifted earlobeSageli (30–79%)

Abnormality of the immune system

TunnusKui sageli seda täheldatakse
Aspiration pneumoniaSageli (30–79%)
Recurrent infectionsSageli (30–79%)

Abnormality of the endocrine system

TunnusKui sageli seda täheldatakse
Papillary thyroid carcinomaHarva (1–4%)

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 SMARCD1 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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