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Tunnused
Geeniga PTBP1 seotud tunnused
polypyrimidine tract binding protein 1
Inimese fenotüübi ontoloogia seostab geeniga PTBP1 145 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Absence of premolar | Alati |
| Amelogenesis imperfecta | Alati |
| Cleft palate | Alati |
| Decreased size of tooth | Alati |
| Dental crowding | Alati |
| Enlarged cisterna magna | Alati |
| Extra teeth | Alati |
| Failure of development of between one and six teeth | Alati |
| Long, narrow head | Alati |
| Prominent metopic ridge | Alati |
| Yellow-brown discoloration of the teeth | Alati |
| Broad forehead | Sageli (30–79%) |
| Depressed nasal bridge | Sageli (30–79%) |
| Eye folds | Sageli (30–79%) |
| Oval face | Sageli (30–79%) |
| Thin eyebrow | Sageli (30–79%) |
| Frontal bossing | Mõnikord (5–29%) |
| Long face | Mõnikord (5–29%) |
| Monobrow | Mõnikord (5–29%) |
| Nasal tip, upturned | Mõnikord (5–29%) |
| Smooth philtrum | Mõnikord (5–29%) |
| Tented philtrum | Mõnikord (5–29%) |
| Both sided cleft lip | Harva (1–4%) |
| Flat face | Harva (1–4%) |
| High forehead | Harva (1–4%) |
| Hooded eyelid | Harva (1–4%) |
| Little lower jaw | Harva (1–4%) |
| Long philtrum | Harva (1–4%) |
| Prominent nose | Harva (1–4%) |
| Round face | Harva (1–4%) |
| Short neck | Harva (1–4%) |
| Thick eyebrow | Harva (1–4%) |
| Triangular face | Harva (1–4%) |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Broad wide portion of long bone | Alati |
| Disproportionately short middle portion of limb | Alati |
| Disproportionately short upper portion of limb | Alati |
| Overlapping toe | Alati |
| Short fingers or toes | Alati |
| Short humerus | Alati |
| Short outermost finger bone | Alati |
| Short thighbone | Alati |
| Shortened long bone of hand | Alati |
| Small hand | Alati |
| Outward turned elbows | Mõnikord (5–29%) |
| Short middle bone of finger | Mõnikord (5–29%) |
| Webbed fingers or toes | Mõnikord (5–29%) |
| Acromesomelia | Harva (1–4%) |
| Cortical thickening of long bone diaphyses | Harva (1–4%) |
| Dropped arches | Harva (1–4%) |
| Rhizomelic arm shortening | Harva (1–4%) |
| Short lower limbs | Harva (1–4%) |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Cerebellar dysplasia | Alati |
| CNS demyelination | Alati |
| Delayed CNS myelination | Alati |
| Delayed speech and language development | Alati |
| Global developmental delay | Alati |
| Inferior cerebellar vermis hypoplasia | Alati |
| Mild global developmental delay | Alati |
| Motor delay | Alati |
| Small cerebellum | Alati |
| Snoring | Alati |
| Thin corpus callosum | Alati |
| Ventriculomegaly | Alati |
| Autism spectrum disorder | Sageli (30–79%) |
| Intellectual disability | Sageli (30–79%) |
| Aggressive behavior | Mõnikord (5–29%) |
| Anxiety | Mõnikord (5–29%) |
| Behavioral abnormality | Mõnikord (5–29%) |
| Instability or lack of coordination of central trunk muscles | Harva (1–4%) |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Septo-optic dysplasia | Alati |
| Astigmatism | Mõnikord (5–29%) |
| Close sighted | Mõnikord (5–29%) |
| Developmental glaucoma | Mõnikord (5–29%) |
| Glaucoma | Mõnikord (5–29%) |
| Severe near sightedness | Mõnikord (5–29%) |
| Wide-set eyes | Mõnikord (5–29%) |
| Abnormally small eyeball on both sides | Harva (1–4%) |
| Clouding of the lens of the eye | Harva (1–4%) |
| Cross-eyed | Harva (1–4%) |
| Dropping of one upper eyelid | Harva (1–4%) |
| Involuntary, rapid, rhythmic eye movements | Harva (1–4%) |
| Lazy eye | Harva (1–4%) |
| Papilledema | Harva (1–4%) |
| Retinal detachment | Harva (1–4%) |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Advanced bone age | Alati |
| Cone-shaped end part of bone | Alati |
| Osteoporosis | Alati |
| Scoliosis | Alati |
| Short long bone | Alati |
| Low muscle tone in trunk | Sageli (30–79%) |
| Severely decreased muscle tone | Sageli (30–79%) |
| Funnel chest | Mõnikord (5–29%) |
| Low muscle tone | Mõnikord (5–29%) |
| Hunched back | Harva (1–4%) |
| Joint stiffness | Harva (1–4%) |
| Permanent flexion of the finger or toe | Harva (1–4%) |
| Small chest | Harva (1–4%) |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| An opening in the wall separating the top two chambers of the heart | Alati |
| Aortic regurgitation | Alati |
| Bulging of wall of large artery located above heart | Alati |
| Cutis marmorata | Alati |
| Hepatic hemangioma | Alati |
| Mitral regurgitation | Alati |
| Narrowing of lung artery | Alati |
| Patent ductus arteriosus | Alati |
| Pulmonary artery atresia | Alati |
| Tetralogy of Fallot | Alati |
| Tricuspid regurgitation | Alati |
| Ventricular hypertrophy | Alati |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Aplasia cutis congenita over the scalp vertex | Alati |
| Curly hair | Alati |
| Dry hair | Alati |
| Hanging skin | Alati |
| Increased number of skin folds | Alati |
| Patchy darkened skin | Alati |
| Short nail | Alati |
| Small nail | Alati |
| Spinal dimple | Alati |
| Thin nail | Alati |
| Underdeveloped toenails | Alati |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Disproportionate short stature | Alati |
| Disproportionate short-limb short stature | Alati |
| Disproportionate tall stature | Alati |
| Faltering weight | Alati |
| Obesity | Alati |
| Proportionate short stature | Alati |
Abnormality of the endocrine system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Decreased circulating insulin-like growth factor 1 concentration | Alati |
| Ectopic anterior pituitary gland | Alati |
| Hypopituitarism | Alati |
| Reduced circulating growth hormone concentration | Alati |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Feeding difficulties | Alati |
| Pyloric stenosis | Alati |
| Umbilical hernia | Alati |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Mixed hearing impairment | Alati |
| Low-set ears | Sageli (30–79%) |
| Small ears | Harva (1–4%) |
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Hydronephrosis | Alati |
| Hypospadias | Alati |
| Enuresis | Mõnikord (5–29%) |
Abnormality of the immune system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Baby eczema | Alati |
| Psoriasiform dermatitis | Alati |
Laboratory abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Hyperinsulinemia | Alati |
| Low blood sugar | Alati |
Abnormality of prenatal development or birth
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Fetal little finger curvature | Harva (1–4%) |
Abnormality of the respiratory system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Floppy windpipe | Alati |
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 PTBP1 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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