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Tunnused
Geeniga IDUA seotud tunnused
alpha-L-iduronidase
Inimese fenotüübi ontoloogia seostab geeniga IDUA 119 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
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Logi sisseKüsiSekveneeri oma genoom↗
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormally large tongue | Alati |
| Big calvaria | Alati |
| Coarse facial features | Alati |
| Enlargement of skull bones | Alati |
| Frontal bossing | Alati |
| Full lips | Alati |
| Overgrowth of skullcap | Alati |
| Wide nasal bridge | Alati |
| Depressed nasal bridge | Väga sageli (80–99%) |
| Full cheeks | Väga sageli (80–99%) |
| Large face | Väga sageli (80–99%) |
| Nasal inflammation | Väga sageli (80–99%) |
| Nasal tip, upturned | Väga sageli (80–99%) |
| Short neck | Väga sageli (80–99%) |
| Thick eyebrow | Väga sageli (80–99%) |
| Drooping lower lip | Sageli (30–79%) |
| Long, narrow head | Sageli (30–79%) |
| Wide mouth | Mõnikord (5–29%) |
| Big lower jaw | Pole registreeritud |
| Broad face | Pole registreeritud |
| Broad nasal tip | Pole registreeritud |
| Decreased size of tooth | Pole registreeritud |
| Gum enlargement | Pole registreeritud |
| J-shaped sella turcica | Pole registreeritud |
| Little lower jaw | Pole registreeritud |
| Wide nose | Pole registreeritud |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Dysostosis multiplex | Alati |
| Hand pain | Alati |
| Joint stiffness | Alati |
| Abnormal skeletal development | Väga sageli (80–99%) |
| Abnormal vertebral morphology | Väga sageli (80–99%) |
| Abnormality of the skeletal system | Väga sageli (80–99%) |
| Hernia | Väga sageli (80–99%) |
| Limitation of joint mobility | Väga sageli (80–99%) |
| Low muscle tone | Väga sageli (80–99%) |
| Abnormal collarbone | Sageli (30–79%) |
| Abnormal shape of end part of bone | Sageli (30–79%) |
| Abnormality of the ribs | Sageli (30–79%) |
| C1-C2 subluxation | Sageli (30–79%) |
| Narrow pelvis bone | Sageli (30–79%) |
| Narrow spinal canal | Sageli (30–79%) |
| Scoliosis | Sageli (30–79%) |
| Spastic paraparesis | Mõnikord (5–29%) |
| Biconcave vertebral bodies | Pole registreeritud |
| Displacement of one backbone compared to another | Pole registreeritud |
| Flared iliac wing | Pole registreeritud |
| Flexed joint that cannot be straightened | Pole registreeritud |
| Hunched back | Pole registreeritud |
| Hypoplasia of the odontoid process | Pole registreeritud |
| Short collarbone | Pole registreeritud |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Enlarged liver and spleen | Alati |
| Mitral stenosis | Alati |
| Narrowing of aortic valve | Alati |
| Abnormal heart valve morphology | Väga sageli (80–99%) |
| Abnormality of the tonsils | Väga sageli (80–99%) |
| Aortic regurgitation | Väga sageli (80–99%) |
| Disease of the heart muscle | Väga sageli (80–99%) |
| Increased spleen size | Väga sageli (80–99%) |
| Mitral regurgitation | Väga sageli (80–99%) |
| High blood pressure | Sageli (30–79%) |
| Angina pectoris | Mõnikord (5–29%) |
| Endocardial fibroelastosis | Mõnikord (5–29%) |
| Enlarged tonsils | Pole registreeritud |
| Increased blood pressure in blood vessels of lungs | Pole registreeritud |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal nerve conduction velocity | Väga sageli (80–99%) |
| Cerebral palsy | Väga sageli (80–99%) |
| Global developmental delay | Väga sageli (80–99%) |
| Intellectual disability | Väga sageli (80–99%) |
| Abnormal pyramidal sign | Sageli (30–79%) |
| Depression | Sageli (30–79%) |
| Difficulty sleeping | Sageli (30–79%) |
| Too much cerebrospinal fluid in the brain | Sageli (30–79%) |
| Abnormal CNS myelination | Pole registreeritud |
| Cervical cord compression | Pole registreeritud |
| Constrictive median neuropathy | Pole registreeritud |
| Obstructive sleep apnea | Pole registreeritud |
| Ongoing loss of nerve cells | Pole registreeritud |
| Worsening neurological symptoms | Pole registreeritud |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Broad wide portion of long bone | Alati |
| Contracture of the distal interphalangeal joint of the fingers | Alati |
| Permanent flexion of the finger | Alati |
| Thenar muscle atrophy | Alati |
| Abnormal shape of shaft of long bone | Sageli (30–79%) |
| Abnormality of the elbow | Sageli (30–79%) |
| Coxa valga | Pole registreeritud |
| High-arched foot | Pole registreeritud |
| Knock knees | Pole registreeritud |
| Small head of thigh bone | Pole registreeritud |
| Thickening of shaft or central part of long bones | Pole registreeritud |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Corneal opacity | Alati |
| Drooping of both upper eyelids | Alati |
| Wide-set eyes | Alati |
| Glaucoma | Väga sageli (80–99%) |
| Noninflammatory retina disease | Sageli (30–79%) |
| Retina degeneration | Mõnikord (5–29%) |
| Opacification of the corneal stroma | Pole registreeritud |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Belly sticks out | Alati |
| Inguinal hernia | Alati |
| Umbilical hernia | Alati |
| Enlarged liver | Väga sageli (80–99%) |
| Chronic diarrhea | Sageli (30–79%) |
| Feeding difficulties | Sageli (30–79%) |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Excessive hairiness over body | Väga sageli (80–99%) |
| Mongolian blue spot | Sageli (30–79%) |
| Abnormal skin pigmentation | Mõnikord (5–29%) |
| Excessive hairiness | Pole registreeritud |
| Thickened skin | Pole registreeritud |
Laboratory abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Dermatan sulfate excretion in urine | Alati |
| Diminished tissue alpha-L-iduronidase activity | Alati |
| Heparan sulfate excretion in urine | Alati |
| Mucopolysacchariduria | Väga sageli (80–99%) |
| Urinary glycosaminoglycan excretion | Pole registreeritud |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Recurrent middle ear infection | Alati |
| Hearing impairment | Sageli (30–79%) |
| Sensorineural hearing impairment | Sageli (30–79%) |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Growth delay | Alati |
| Short stature | Väga sageli (80–99%) |
Abnormality of the immune system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Recurrent respiratory infections | Sageli (30–79%) |
Abnormality of the respiratory system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Narrowing of windpipe | Pole registreeritud |
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 IDUA seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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