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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.
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Abnormality of the nervous system
Abnormality of the eye
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Cross-eyed | Alati |
| Drooping upper eyelid | Alati |
| Oculomotor apraxia | Alati |
| Breakdown of light-sensitive cells in back of eye | Väga sageli (80–99%) |
| Visual impairment | Väga sageli (80–99%) |
| Birth defect that causes a hole in the innermost layer at the back of the eye | Sageli (30–79%) |
| Cat eye | Sageli (30–79%) |
| Clouding of the lens of the eye | Sageli (30–79%) |
| Involuntary, rapid, rhythmic eye movements | Sageli (30–79%) |
| Optic disc coloboma | Sageli (30–79%) |
| Progressive night blindness | Sageli (30–79%) |
| Retinal atrophy | Sageli (30–79%) |
| Hole in the back of the eye | Mõnikord (5–29%) |
| Optic disc pallor | Mõnikord (5–29%) |
| Retinal dysplasia | Mõnikord (5–29%) |
| Visual loss | Mõnikord (5–29%) |
| Abnormal saccadic eye movements | Pole registreeritud |
| Abnormality of ocular smooth pursuit | Pole registreeritud |
| Decreased clarity of vision | Pole registreeritud |
| Difficulties with night vision | Pole registreeritud |
| Extreme sensitivity of the eyes to light | Pole registreeritud |
| Impaired smooth pursuit | Pole registreeritud |
Abnormality of head or neck
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Decreased width of the skull | Sageli (30–79%) |
| Long face | Sageli (30–79%) |
| Abnormally small head | Mõnikord (5–29%) |
| Asymmetry of the posterior head | Mõnikord (5–29%) |
| Big calvaria | Mõnikord (5–29%) |
| Brain tissue sticks out through back of skull | Mõnikord (5–29%) |
| Cleft of the mouth | Mõnikord (5–29%) |
| Cleft palate | Mõnikord (5–29%) |
| Encephalocele | Mõnikord (5–29%) |
| Highly arched eyebrow | Mõnikord (5–29%) |
| Nasal tip, upturned | Mõnikord (5–29%) |
| Prominent nasal bridge | Mõnikord (5–29%) |
| Abnormally large tongue | Pole registreeritud |
| Eye folds | Pole registreeritud |
| Prominent forehead | Pole registreeritud |
| Protruding tongue | Pole registreeritud |
| Triangular-shaped open mouth | Pole registreeritud |
Abnormality of the digestive system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Enlarged liver | Väga sageli (80–99%) |
| Excessive buildup of connective tissue and scarring of liver at birth | Väga sageli (80–99%) |
| Intrahepatic biliary atresia | Väga sageli (80–99%) |
| Feeding difficulties | Sageli (30–79%) |
| Feeding difficulties in infancy | Sageli (30–79%) |
| Chronic liver failure | Mõnikord (5–29%) |
| Enlarged colon lacking nerve cells | Mõnikord (5–29%) |
| Hepatic fibrosis | Mõnikord (5–29%) |
| Inguinal hernia | Mõnikord (5–29%) |
| Liver cancer | Mõnikord (5–29%) |
| Scar tissue replaces healthy tissue in the liver | Mõnikord (5–29%) |
Abnormality of the genitourinary system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Kidney damage | Alati |
| Short penis | Väga sageli (80–99%) |
| Abnormality of the kidney | Mõnikord (5–29%) |
| Cystic kidney disease | Mõnikord (5–29%) |
| Multicystic kidney dysplasia | Mõnikord (5–29%) |
| Renal failure | Mõnikord (5–29%) |
Abnormality of the musculoskeletal system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Generalized decreased muscle tone | Alati |
| Poor head control | Alati |
| Low muscle tone | Väga sageli (80–99%) |
| Abnormal vertebral body morphology | Mõnikord (5–29%) |
| Abnormal vertebral morphology | Mõnikord (5–29%) |
| Scoliosis | Mõnikord (5–29%) |
Abnormality of limbs
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Curvature of digit | Alati |
| Duplication of bones of the toes | Mõnikord (5–29%) |
| Extra finger | Mõnikord (5–29%) |
| Extra little finger | Mõnikord (5–29%) |
| Extra toe attached near the little toe | Mõnikord (5–29%) |
Abnormality of the cardiovascular system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormal cardiovascular system morphology | Mõnikord (5–29%) |
| All organs on wrong side of body | Mõnikord (5–29%) |
| Heart tip and four chambers point towards right side of body | Mõnikord (5–29%) |
| Increased spleen size | Mõnikord (5–29%) |
| Portal hypertension | Mõnikord (5–29%) |
Abnormality of the respiratory system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormal pattern of respiration | Väga sageli (80–99%) |
| Apnea | Väga sageli (80–99%) |
| Episodic tachypnea | Väga sageli (80–99%) |
| Central apnea | Pole registreeritud |
| Impaired breathing in newborn | Pole registreeritud |
Abnormality of the ear
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Low-set ears | Alati |
| Ears rotated toward back of head | Mõnikord (5–29%) |
Growth abnormality
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Childhood-onset truncal obesity | Alati |
| Truncal obesity | Väga sageli (80–99%) |
Abnormality of the endocrine system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the hypothalamus-pituitary axis | Mõnikord (5–29%) |
Laboratory abnormality
| Trait | Kui sageli seda täheldatakse |
|---|---|
| High liver enzymes | Väga sageli (80–99%) |
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
- 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.
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