Özellikler

IFT27 ile ilişkili özellikler

intraflagellar transport 27

Human Phenotype Ontology, IFT27 ile ilişkili 113 özelliği vücut sistemine göre listeliyor: genin nadir hastalıklarından birine sahip kişilerde görülen özellikler.

IFT27

Abnormality of the genitourinary system

Özellik	Ne sıklıkla görüldüğü
Abnormality of the genitourinary system	Sık (%30–79)
Chronic kidney disease	Sık (%30–79)
Underdeveloped ovary	Sık (%30–79)
Underdeveloped penis	Sık (%30–79)
Absent/small vagina	Bazen (%5–29)
Decreased testicular size	Bazen (%5–29)
Horseshoe kidney	Bazen (%5–29)
Hydrometrocolpos	Bazen (%5–29)
Hydronephrosis	Bazen (%5–29)
Infertility	Bazen (%5–29)
Lack of bladder control due to nervous system injury	Bazen (%5–29)
Menstrual irregularity	Bazen (%5–29)
Multiple kidney cysts	Bazen (%5–29)
Nephrotic syndrome	Bazen (%5–29)
Polycystic ovaries	Bazen (%5–29)
Renal failure	Bazen (%5–29)
Small kidneys	Bazen (%5–29)
Undescended testes	Bazen (%5–29)
Vesicoureteral reflux	Bazen (%5–29)
Underdevelopment of external reproductive organs	Kaydedilmedi

Abnormality of the nervous system

Özellik	Ne sıklıkla görüldüğü
Delayed ability to walk	Her zaman
Delayed speech and language development	Her zaman
Global developmental delay	Her zaman
Underdevelopment of part of brain called corpus callosum	Her zaman
Neurodevelopmental delay	Çok sık (%80–99)
Autism	Sık (%30–79)
Behavioral abnormality	Sık (%30–79)
Cognitive impairment	Sık (%30–79)
Depression	Sık (%30–79)
Short attention span	Sık (%30–79)
Specific learning disability	Sık (%30–79)
Abnormal speech pattern	Bazen (%5–29)
Anxiety	Bazen (%5–29)
Ataxia	Bazen (%5–29)
Breathy speech	Bazen (%5–29)
Can't control feelings	Bazen (%5–29)
Epilepsy	Bazen (%5–29)
Intellectual disability	Bazen (%5–29)

Abnormality of the eye

Özellik	Ne sıklıkla görüldüğü
Breakdown of light-sensitive cells in back of eye	Her zaman
Close sighted	Her zaman
Cone/cone-rod dystrophy	Her zaman
Exodeviation	Her zaman
Rod-cone dystrophy	Her zaman
Abnormal color vision	Sık (%30–79)
Abnormal electroretinogram	Sık (%30–79)
Blindness	Sık (%30–79)
Decreased clarity of vision	Sık (%30–79)
Difficulties with night vision	Sık (%30–79)
Extreme sensitivity of the eyes to light	Sık (%30–79)
Involuntary, rapid, rhythmic eye movements	Sık (%30–79)
Astigmatism	Bazen (%5–29)
Clouding of the lens of the eye	Bazen (%5–29)
Cross-eyed	Bazen (%5–29)
Wide-set eyes	Bazen (%5–29)

Abnormality of head or neck

Özellik	Ne sıklıkla görüldüğü
Abnormality of the oral cavity	Sık (%30–79)
Abnormality of the sense of smell	Sık (%30–79)
Dental crowding	Sık (%30–79)
Failure of development of between one and six teeth	Sık (%30–79)
High palate	Sık (%30–79)
Decreased size of tooth	Bazen (%5–29)
Depressed nasal bridge	Bazen (%5–29)
Downward slanting of the opening between the eyelids	Bazen (%5–29)
Long philtrum	Bazen (%5–29)
Medial flaring of the eyebrow	Bazen (%5–29)
Nasal inflammation	Bazen (%5–29)
Prominent nasal bridge	Bazen (%5–29)
Receding chin	Bazen (%5–29)
Short neck	Bazen (%5–29)
Hyposmia	Kaydedilmedi

Abnormality of limbs

Özellik	Ne sıklıkla görüldüğü
Extra toe attached near the little toe	Her zaman
Mesoaxial hand polydactyly	Her zaman
Y-shaped long bone of hand	Her zaman
Postaxial polydactyly	Çok sık (%80–99)
Short fingers or toes	Sık (%30–79)
Club feet	Bazen (%5–29)
Finger syndactyly	Bazen (%5–29)
Webbed fingers or toes	Bazen (%5–29)
Curvature of outermost bone of little finger	Seyrek (%1–4)

Abnormality of the cardiovascular system

Özellik	Ne sıklıkla görüldüğü
Partial atrioventricular canal defect	Her zaman
High blood pressure	Sık (%30–79)
Abnormality of the heart	Bazen (%5–29)
An opening in the wall separating the top two chambers of the heart	Bazen (%5–29)
Hole in heart wall separating two lower heart chambers	Bazen (%5–29)
Patent ductus arteriosus	Bazen (%5–29)
Underdeveloped left heart	Bazen (%5–29)
Disease of the heart muscle	Seyrek (%1–4)

Laboratory abnormality

Özellik	Ne sıklıkla görüldüğü
Decreased circulating high-density lipoprotein cholesterol	Sık (%30–79)
High liver enzymes	Sık (%30–79)
Impaired fasting glucose	Sık (%30–79)
Increased plasma triglycerides	Sık (%30–79)
Body fails to respond to insulin	Bazen (%5–29)
Fatty infiltration of liver	Bazen (%5–29)
Noninsulin-dependent diabetes	Bazen (%5–29)

Abnormality of the digestive system

Özellik	Ne sıklıkla görüldüğü
Abnormality of the gastrointestinal tract	Bazen (%5–29)
Hepatic fibrosis	Bazen (%5–29)
Celiac disease	Seyrek (%1–4)
Enlarged colon lacking nerve cells	Seyrek (%1–4)
Inflammation of the large intestine	Seyrek (%1–4)

Abnormality of the ear

Özellik	Ne sıklıkla görüldüğü
Ears rotated toward back of head	Bazen (%5–29)
Hearing impairment	Bazen (%5–29)
Large ears	Bazen (%5–29)
Middle ear infection	Bazen (%5–29)

Abnormality of the endocrine system

Özellik	Ne sıklıkla görüldüğü
Decreased activity of gonads	Sık (%30–79)
Abnormality of the endocrine system	Bazen (%5–29)
Underactive thyroid	Bazen (%5–29)

Abnormality of the musculoskeletal system

Özellik	Ne sıklıkla görüldüğü
Double-Jointed	Bazen (%5–29)
Involuntary muscle stiffness, contraction, or spasm	Bazen (%5–29)
Muscle degeneration	Bazen (%5–29)

Growth abnormality

Özellik	Ne sıklıkla görüldüğü
Obesity	Her zaman
Childhood-onset truncal obesity	Çok sık (%80–99)
Short stature	Sık (%30–79)

Abnormality of the immune system

Özellik	Ne sıklıkla görüldüğü
Asthma	Bazen (%5–29)

Abnormality of the integument

Özellik	Ne sıklıkla görüldüğü
Excessive hairiness over body	Bazen (%5–29)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

Human Phenotype Ontology, 2026-09-01 sürümü: IFT27 ile ilişkili özellikler ve her birinin ne sıklıkla görüldüğü. Daha fazla bilgi için hpo.jax.org adresini ziyaret edin.

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