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PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymiai
Su PTBP1 susiję požymiai
polypyrimidine tract binding protein 1
Žmogaus fenotipo ontologija sieja 145 požymių su PTBP1, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Abnormality of head or neck
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Absence of premolar | Visada |
| Amelogenesis imperfecta | Visada |
| Cleft palate | Visada |
| Decreased size of tooth | Visada |
| Dental crowding | Visada |
| Enlarged cisterna magna | Visada |
| Extra teeth | Visada |
| Failure of development of between one and six teeth | Visada |
| Long, narrow head | Visada |
| Prominent metopic ridge | Visada |
| Yellow-brown discoloration of the teeth | Visada |
| Broad forehead | Dažnai (30–79%) |
| Depressed nasal bridge | Dažnai (30–79%) |
| Eye folds | Dažnai (30–79%) |
| Oval face | Dažnai (30–79%) |
| Thin eyebrow | Dažnai (30–79%) |
| Frontal bossing | Kartais (5–29%) |
| Long face | Kartais (5–29%) |
| Monobrow | Kartais (5–29%) |
| Nasal tip, upturned | Kartais (5–29%) |
| Smooth philtrum | Kartais (5–29%) |
| Tented philtrum | Kartais (5–29%) |
| Both sided cleft lip | Retai (1–4 %) |
| Flat face | Retai (1–4 %) |
| High forehead | Retai (1–4 %) |
| Hooded eyelid | Retai (1–4 %) |
| Little lower jaw | Retai (1–4 %) |
| Long philtrum | Retai (1–4 %) |
| Prominent nose | Retai (1–4 %) |
| Round face | Retai (1–4 %) |
| Short neck | Retai (1–4 %) |
| Thick eyebrow | Retai (1–4 %) |
| Triangular face | Retai (1–4 %) |
Abnormality of limbs
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Broad wide portion of long bone | Visada |
| Disproportionately short middle portion of limb | Visada |
| Disproportionately short upper portion of limb | Visada |
| Overlapping toe | Visada |
| Short fingers or toes | Visada |
| Short humerus | Visada |
| Short outermost finger bone | Visada |
| Short thighbone | Visada |
| Shortened long bone of hand | Visada |
| Small hand | Visada |
| Outward turned elbows | Kartais (5–29%) |
| Short middle bone of finger | Kartais (5–29%) |
| Webbed fingers or toes | Kartais (5–29%) |
| Acromesomelia | Retai (1–4 %) |
| Cortical thickening of long bone diaphyses | Retai (1–4 %) |
| Dropped arches | Retai (1–4 %) |
| Rhizomelic arm shortening | Retai (1–4 %) |
| Short lower limbs | Retai (1–4 %) |
Abnormality of the nervous system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Cerebellar dysplasia | Visada |
| CNS demyelination | Visada |
| Delayed CNS myelination | Visada |
| Delayed speech and language development | Visada |
| Global developmental delay | Visada |
| Inferior cerebellar vermis hypoplasia | Visada |
| Mild global developmental delay | Visada |
| Motor delay | Visada |
| Small cerebellum | Visada |
| Snoring | Visada |
| Thin corpus callosum | Visada |
| Ventriculomegaly | Visada |
| Autism spectrum disorder | Dažnai (30–79%) |
| Intellectual disability | Dažnai (30–79%) |
| Aggressive behavior | Kartais (5–29%) |
| Anxiety | Kartais (5–29%) |
| Behavioral abnormality | Kartais (5–29%) |
| Instability or lack of coordination of central trunk muscles | Retai (1–4 %) |
Abnormality of the eye
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Septo-optic dysplasia | Visada |
| Astigmatism | Kartais (5–29%) |
| Close sighted | Kartais (5–29%) |
| Developmental glaucoma | Kartais (5–29%) |
| Glaucoma | Kartais (5–29%) |
| Severe near sightedness | Kartais (5–29%) |
| Wide-set eyes | Kartais (5–29%) |
| Abnormally small eyeball on both sides | Retai (1–4 %) |
| Clouding of the lens of the eye | Retai (1–4 %) |
| Cross-eyed | Retai (1–4 %) |
| Dropping of one upper eyelid | Retai (1–4 %) |
| Involuntary, rapid, rhythmic eye movements | Retai (1–4 %) |
| Lazy eye | Retai (1–4 %) |
| Papilledema | Retai (1–4 %) |
| Retinal detachment | Retai (1–4 %) |
Abnormality of the musculoskeletal system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Advanced bone age | Visada |
| Cone-shaped end part of bone | Visada |
| Osteoporosis | Visada |
| Scoliosis | Visada |
| Short long bone | Visada |
| Low muscle tone in trunk | Dažnai (30–79%) |
| Severely decreased muscle tone | Dažnai (30–79%) |
| Funnel chest | Kartais (5–29%) |
| Low muscle tone | Kartais (5–29%) |
| Hunched back | Retai (1–4 %) |
| Joint stiffness | Retai (1–4 %) |
| Permanent flexion of the finger or toe | Retai (1–4 %) |
| Small chest | Retai (1–4 %) |
Abnormality of the cardiovascular system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| An opening in the wall separating the top two chambers of the heart | Visada |
| Aortic regurgitation | Visada |
| Bulging of wall of large artery located above heart | Visada |
| Cutis marmorata | Visada |
| Hepatic hemangioma | Visada |
| Mitral regurgitation | Visada |
| Narrowing of lung artery | Visada |
| Patent ductus arteriosus | Visada |
| Pulmonary artery atresia | Visada |
| Tetralogy of Fallot | Visada |
| Tricuspid regurgitation | Visada |
| Ventricular hypertrophy | Visada |
Abnormality of the integument
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Aplasia cutis congenita over the scalp vertex | Visada |
| Curly hair | Visada |
| Dry hair | Visada |
| Hanging skin | Visada |
| Increased number of skin folds | Visada |
| Patchy darkened skin | Visada |
| Short nail | Visada |
| Small nail | Visada |
| Spinal dimple | Visada |
| Thin nail | Visada |
| Underdeveloped toenails | Visada |
Growth abnormality
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Disproportionate short stature | Visada |
| Disproportionate short-limb short stature | Visada |
| Disproportionate tall stature | Visada |
| Faltering weight | Visada |
| Obesity | Visada |
| Proportionate short stature | Visada |
Abnormality of the endocrine system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Decreased circulating insulin-like growth factor 1 concentration | Visada |
| Ectopic anterior pituitary gland | Visada |
| Hypopituitarism | Visada |
| Reduced circulating growth hormone concentration | Visada |
Abnormality of the digestive system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Feeding difficulties | Visada |
| Pyloric stenosis | Visada |
| Umbilical hernia | Visada |
Abnormality of the ear
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Mixed hearing impairment | Visada |
| Low-set ears | Dažnai (30–79%) |
| Small ears | Retai (1–4 %) |
Abnormality of the genitourinary system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Hydronephrosis | Visada |
| Hypospadias | Visada |
| Enuresis | Kartais (5–29%) |
Abnormality of the immune system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Baby eczema | Visada |
| Psoriasiform dermatitis | Visada |
Laboratory abnormality
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Hyperinsulinemia | Visada |
| Low blood sugar | Visada |
Abnormality of prenatal development or birth
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Fetal little finger curvature | Retai (1–4 %) |
Abnormality of the respiratory system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Floppy windpipe | Visada |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su PTBP1 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.
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PrisijungtiKlaustiSekvenuokite savo genomą↗
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