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Tunnused
Geeniga WDR19 seotud tunnused
WD repeat domain 19
Inimese fenotüübi ontoloogia seostab geeniga WDR19 121 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
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AtlasKellele me abi osutameMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Absent sperm axoneme central pair complex | Alati |
| Absent sperm flagella | Alati |
| Chronic tubulointerstitial nephritis | Alati |
| Coiled sperm flagella | Alati |
| Global glomerulosclerosis | Alati |
| Glomerular subepithelial immune-complex deposits | Alati |
| Glomerulonephritis | Alati |
| Irregularly shaped sperm tail | Alati |
| Male infertility | Alati |
| Multilamellation of medullary peritubular capillary basement membranes | Alati |
| Nephronophthisis | Alati |
| Reduced progressive sperm motility | Alati |
| Short sperm flagella | Alati |
| Small kidneys | Alati |
| Stage 5 chronic kidney disease | Alati |
| Chronic kidney disease | Väga sageli (80–99%) |
| Early menopause | Sageli (30–79%) |
| Glomerular sclerosis | Sageli (30–79%) |
| Renal interstitial fibrosis | Sageli (30–79%) |
| Kidney damage | Mõnikord (5–29%) |
| Renal failure | Mõnikord (5–29%) |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Acetabular spurs | Alati |
| Broad outermost finger bone | Alati |
| Broad shaft of long bone | Alati |
| Broad wide portion of long bone | Alati |
| Disproportionately short upper portion of limb | Alati |
| Pes valgus | Alati |
| Short fingers or toes | Alati |
| Short foot | Alati |
| Wide toe bones | Alati |
| Abnormal shape of shaft of long bone | Väga sageli (80–99%) |
| Abnormality of the wide portion of a long bone | Väga sageli (80–99%) |
| Short outermost finger bone | Väga sageli (80–99%) |
| Smaller or shorter than typical limbs | Väga sageli (80–99%) |
| Finger syndactyly | Sageli (30–79%) |
| Webbed fingers | Sageli (30–79%) |
| Curvature of little finger | Mõnikord (5–29%) |
| Extra little finger | Mõnikord (5–29%) |
| Extra toe attached near the little toe | Mõnikord (5–29%) |
| Fused toes | Mõnikord (5–29%) |
| More than five fingers or toes on hands or feet | Mõnikord (5–29%) |
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Full cheeks | Alati |
| Thin red part of the upper lip | Alati |
| Wide nasal bridge | Alati |
| Abnormal dentition | Väga sageli (80–99%) |
| Decreased size of tooth | Väga sageli (80–99%) |
| Eye folds | Väga sageli (80–99%) |
| Frontal bossing | Väga sageli (80–99%) |
| Long, narrow head | Väga sageli (80–99%) |
| Prominent back of the head | Väga sageli (80–99%) |
| Decreased volume of lip | Sageli (30–79%) |
| Deformity of the skull | Sageli (30–79%) |
| Drooping lower lip | Sageli (30–79%) |
| Early closure of midline skull joint | Sageli (30–79%) |
| Failure of development of between one and six teeth | Sageli (30–79%) |
| Nasal tip, upturned | Sageli (30–79%) |
| Smooth philtrum | Sageli (30–79%) |
| Taurodontia | Sageli (30–79%) |
| Abnormal tooth enamel | Mõnikord (5–29%) |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal formation of the hip | Alati |
| Double-Jointed | Alati |
| Funnel chest | Alati |
| Narrow chest | Alati |
| Short pelvis bones | Alati |
| Abnormal shape of pelvic girdle bone | Väga sageli (80–99%) |
| Abnormal skeletal development | Väga sageli (80–99%) |
| Abnormality of the ribs | Väga sageli (80–99%) |
| Osteoporosis | Väga sageli (80–99%) |
| Shorter than typical length between neck and abdomen | Väga sageli (80–99%) |
| Abnormal collarbone | Sageli (30–79%) |
| Abnormality of the sternum | Sageli (30–79%) |
| Cone-shaped end part of bone | Sageli (30–79%) |
| Low muscle tone, in neonatal onset | Sageli (30–79%) |
| Abnormality of bone mineral density | Mõnikord (5–29%) |
| Thoracic dysplasia | Pole registreeritud |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Close sighted | Alati |
| Clouding of the lens of the eye | Alati |
| Farsightedness | Alati |
| Rod-cone dystrophy | Alati |
| Visual impairment | Alati |
| Abnormal retinal pigmentation | Väga sageli (80–99%) |
| Breakdown of light-sensitive cells in back of eye | Väga sageli (80–99%) |
| Abnormally close eyes | Sageli (30–79%) |
| Difficulties with night vision | Sageli (30–79%) |
| Progressive loss of vision | Sageli (30–79%) |
| Involuntary, rapid, rhythmic eye movements | Mõnikord (5–29%) |
| Severe farsightedness | Mõnikord (5–29%) |
| Decreased clarity of vision | Pole registreeritud |
| Macular atrophy | Pole registreeritud |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Enlarged liver | Alati |
| Inguinal hernia | Alati |
| Intrahepatic bile duct dilatation | Alati |
| Liver cysts | Sageli (30–79%) |
| Abnormality of the liver | Mõnikord (5–29%) |
| Excessive buildup of connective tissue and scarring of liver at birth | Mõnikord (5–29%) |
| Feeding difficulties in infancy | Mõnikord (5–29%) |
| Pancreatic cysts | Mõnikord (5–29%) |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Hanging skin | Alati |
| Abnormal fingernails | Väga sageli (80–99%) |
| Abnormality of the toenail | Väga sageli (80–99%) |
| Sparse hair | Väga sageli (80–99%) |
| Thick nail | Sageli (30–79%) |
| Paleness | Pole registreeritud |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Narrowing of blood vessels in back of eye | Alati |
| High blood pressure | Väga sageli (80–99%) |
| Aneurysm | Pole registreeritud |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Global developmental delay | Väga sageli (80–99%) |
| Ataxia | Mõnikord (5–29%) |
| Subdural hygroma | Pole registreeritud |
Abnormality of the respiratory system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Stiff lung or chest wall causing decreased lung volume | Alati |
| Respiratory function loss | Sageli (30–79%) |
| Absent/small lungs | Mõnikord (5–29%) |
Laboratory abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Elevated creatinine | Alati |
| High urine protein levels | Alati |
| Mild proteinuria | Mõnikord (5–29%) |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Short stature | Alati |
| Growth delay | Mõnikord (5–29%) |
Abnormality of blood and blood-forming tissues
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Bone marrow failure | Sageli (30–79%) |
Abnormality of the breast
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Accessory nipple | Alati |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Prominent ear | Sageli (30–79%) |
Abnormality of the immune system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Recurrent pneumonia | Sageli (30–79%) |
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 WDR19 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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