AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Traits
Traits linked to INPP5E
inositol polyphosphate-5-phosphatase E
The Human Phenotype Ontology links 116 traits to INPP5E, by body system: features seen in people with one of the gene's rare conditions.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Abnormality of the nervous system
Abnormality of the eye
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Cross-eyed | Visada |
| Drooping upper eyelid | Visada |
| Oculomotor apraxia | Visada |
| Breakdown of light-sensitive cells in back of eye | Labai dažnai (80–99%) |
| Visual impairment | Labai dažnai (80–99%) |
| Birth defect that causes a hole in the innermost layer at the back of the eye | Dažnai (30–79%) |
| Cat eye | Dažnai (30–79%) |
| Clouding of the lens of the eye | Dažnai (30–79%) |
| Involuntary, rapid, rhythmic eye movements | Dažnai (30–79%) |
| Optic disc coloboma | Dažnai (30–79%) |
| Progressive night blindness | Dažnai (30–79%) |
| Retinal atrophy | Dažnai (30–79%) |
| Hole in the back of the eye | Kartais (5–29%) |
| Optic disc pallor | Kartais (5–29%) |
| Retinal dysplasia | Kartais (5–29%) |
| Visual loss | Kartais (5–29%) |
| Abnormal saccadic eye movements | Neužfiksuota |
| Abnormality of ocular smooth pursuit | Neužfiksuota |
| Decreased clarity of vision | Neužfiksuota |
| Difficulties with night vision | Neužfiksuota |
| Extreme sensitivity of the eyes to light | Neužfiksuota |
| Impaired smooth pursuit | Neužfiksuota |
Abnormality of head or neck
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Decreased width of the skull | Dažnai (30–79%) |
| Long face | Dažnai (30–79%) |
| Abnormally small head | Kartais (5–29%) |
| Asymmetry of the posterior head | Kartais (5–29%) |
| Big calvaria | Kartais (5–29%) |
| Brain tissue sticks out through back of skull | Kartais (5–29%) |
| Cleft of the mouth | Kartais (5–29%) |
| Cleft palate | Kartais (5–29%) |
| Encephalocele | Kartais (5–29%) |
| Highly arched eyebrow | Kartais (5–29%) |
| Nasal tip, upturned | Kartais (5–29%) |
| Prominent nasal bridge | Kartais (5–29%) |
| Abnormally large tongue | Neužfiksuota |
| Eye folds | Neužfiksuota |
| Prominent forehead | Neužfiksuota |
| Protruding tongue | Neužfiksuota |
| Triangular-shaped open mouth | Neužfiksuota |
Abnormality of the digestive system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Enlarged liver | Labai dažnai (80–99%) |
| Excessive buildup of connective tissue and scarring of liver at birth | Labai dažnai (80–99%) |
| Intrahepatic biliary atresia | Labai dažnai (80–99%) |
| Feeding difficulties | Dažnai (30–79%) |
| Feeding difficulties in infancy | Dažnai (30–79%) |
| Chronic liver failure | Kartais (5–29%) |
| Enlarged colon lacking nerve cells | Kartais (5–29%) |
| Hepatic fibrosis | Kartais (5–29%) |
| Inguinal hernia | Kartais (5–29%) |
| Liver cancer | Kartais (5–29%) |
| Scar tissue replaces healthy tissue in the liver | Kartais (5–29%) |
Abnormality of the genitourinary system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Kidney damage | Visada |
| Short penis | Labai dažnai (80–99%) |
| Abnormality of the kidney | Kartais (5–29%) |
| Cystic kidney disease | Kartais (5–29%) |
| Multicystic kidney dysplasia | Kartais (5–29%) |
| Renal failure | Kartais (5–29%) |
Abnormality of the musculoskeletal system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Generalized decreased muscle tone | Visada |
| Poor head control | Visada |
| Low muscle tone | Labai dažnai (80–99%) |
| Abnormal vertebral body morphology | Kartais (5–29%) |
| Abnormal vertebral morphology | Kartais (5–29%) |
| Scoliosis | Kartais (5–29%) |
Abnormality of limbs
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Curvature of digit | Visada |
| Duplication of bones of the toes | Kartais (5–29%) |
| Extra finger | Kartais (5–29%) |
| Extra little finger | Kartais (5–29%) |
| Extra toe attached near the little toe | Kartais (5–29%) |
Abnormality of the cardiovascular system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Abnormal cardiovascular system morphology | Kartais (5–29%) |
| All organs on wrong side of body | Kartais (5–29%) |
| Heart tip and four chambers point towards right side of body | Kartais (5–29%) |
| Increased spleen size | Kartais (5–29%) |
| Portal hypertension | Kartais (5–29%) |
Abnormality of the respiratory system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Abnormal pattern of respiration | Labai dažnai (80–99%) |
| Apnea | Labai dažnai (80–99%) |
| Episodic tachypnea | Labai dažnai (80–99%) |
| Central apnea | Neužfiksuota |
| Impaired breathing in newborn | Neužfiksuota |
Abnormality of the ear
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Low-set ears | Visada |
| Ears rotated toward back of head | Kartais (5–29%) |
Growth abnormality
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Childhood-onset truncal obesity | Visada |
| Truncal obesity | Labai dažnai (80–99%) |
Abnormality of the endocrine system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Abnormality of the hypothalamus-pituitary axis | Kartais (5–29%) |
Laboratory abnormality
| Trait | Kaip dažnai pasireiškia |
|---|---|
| High liver enzymes | Labai dažnai (80–99%) |
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
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to INPP5E and how often each is seen. Find out more at hpo.jax.org.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienas testas. Atsakymai visam gyvenimui.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites