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ConectareÎntrebațiSecvențiați-vă genomul↗
Trăsături
Trăsături asociate cu TMEM67
transmembrane protein 67
Human Phenotype Ontology asociază 190 trăsături cu TMEM67, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Abnormality of the nervous system
Abnormality of the eye
| Trăsătură | Cât de frecvent apare |
|---|---|
| Drooping upper eyelid | Întotdeauna |
| Involuntary, rapid, rhythmic eye movements | Întotdeauna |
| Outward facing eye ball | Întotdeauna |
| Rod-cone dystrophy | Întotdeauna |
| Total ophthalmoplegia | Întotdeauna |
| Oculomotor apraxia | Foarte des (80–99%) |
| Abnormal chorioretinal morphology | Des (30–79%) |
| Abnormally small eyeball | Des (30–79%) |
| Absent/small iris | Des (30–79%) |
| Birth defect that causes a hole in the innermost layer at the back of the eye | Des (30–79%) |
| Cat eye | Des (30–79%) |
| Clouding of the lens of the eye | Des (30–79%) |
| Cornea of eye less than 10mm in diameter | Des (30–79%) |
| Deeply set eye | Des (30–79%) |
| Hardening of skin and connective tissue | Des (30–79%) |
| Notched pupil | Des (30–79%) |
| Optic atrophy | Des (30–79%) |
| Optic disc coloboma | Des (30–79%) |
| Visual impairment | Des (30–79%) |
| Wide-set eyes | Des (30–79%) |
| Absence of eyeballs | Uneori (5–29%) |
| Asymmetric pupil sizes | Uneori (5–29%) |
| Cross-eyed | Uneori (5–29%) |
| Optic disc pallor | Uneori (5–29%) |
| Retina degeneration | Uneori (5–29%) |
| Blindness | Neînregistrat |
Abnormality of the genitourinary system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Multicystic kidney dysplasia | Întotdeauna |
| Nephronophthisis | Întotdeauna |
| Renal failure | Întotdeauna |
| Stage 5 chronic kidney disease | Întotdeauna |
| Abnormal renal interstitial morphology | Des (30–79%) |
| Ambiguous external genitalia | Des (30–79%) |
| Chronic kidney disease | Des (30–79%) |
| Hyperechogenic kidneys | Des (30–79%) |
| Kidney damage | Des (30–79%) |
| Reduced renal corticomedullary differentiation | Des (30–79%) |
| Renal corticomedullary cysts | Des (30–79%) |
| Small kidneys | Des (30–79%) |
| Thickening of the tubular basement membrane | Des (30–79%) |
| Tubular luminal dilatation | Des (30–79%) |
| Undescended testes | Des (30–79%) |
| Absent kidney on one side | Uneori (5–29%) |
| Cystic kidney disease | Uneori (5–29%) |
| Double ureter | Uneori (5–29%) |
| Kidney degeneration | Uneori (5–29%) |
| Male pseudohermaphroditism | Uneori (5–29%) |
| True hermaphroditism | Uneori (5–29%) |
| Urethral atresia | Uneori (5–29%) |
| Increased urine output | Neînregistrat |
| Multiple small medullary renal cysts | Neînregistrat |
| Renal tubular atrophy | Neînregistrat |
| Tubular basement membrane disintegration | Neînregistrat |
Abnormality of the digestive system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Hepatic fibrosis | Întotdeauna |
| Abnormality of the liver | Foarte des (80–99%) |
| Enlarged liver | Foarte des (80–99%) |
| Excessive buildup of connective tissue and scarring of liver at birth | Foarte des (80–99%) |
| Intrahepatic biliary atresia | Foarte des (80–99%) |
| Malformation of the hepatic ductal plate | Foarte des (80–99%) |
| Bile duct proliferation | Des (30–79%) |
| Feeding difficulties in infancy | Des (30–79%) |
| Reduced number of intrahepatic bile ducts | Des (30–79%) |
| Slowed or blocked flow of bile from liver | Des (30–79%) |
| Accumulation of fluid in the abdomen | Uneori (5–29%) |
| Chronic liver failure | Uneori (5–29%) |
| Cystic liver disease | Uneori (5–29%) |
| Enlarged colon lacking nerve cells | Uneori (5–29%) |
| Enlarged vein in esophagus | Uneori (5–29%) |
| Inguinal hernia | Uneori (5–29%) |
| Intrahepatic bile duct dilatation | Uneori (5–29%) |
| Liver cancer | Uneori (5–29%) |
| Pancreatic cysts | Uneori (5–29%) |
| Pancreatic fibrosis | Uneori (5–29%) |
| Scar tissue replaces healthy tissue in the liver | Uneori (5–29%) |
| Abdomen abnormality | Neînregistrat |
Abnormality of head or neck
| Trăsătură | Cât de frecvent apare |
|---|---|
| Increased thickness of skull cap | Întotdeauna |
| Abnormally small head | Foarte des (80–99%) |
| Encephalocele | Foarte des (80–99%) |
| Brain tissue sticks out through back of skull | Des (30–79%) |
| Cleft palate | Des (30–79%) |
| Decreased width of the skull | Des (30–79%) |
| Flat nose | Des (30–79%) |
| Full cheeks | Des (30–79%) |
| Little lower jaw | Des (30–79%) |
| Long face | Des (30–79%) |
| Sloping forehead | Des (30–79%) |
| Aplasia/Hypoplasia of the tongue | Uneori (5–29%) |
| Big calvaria | Uneori (5–29%) |
| Cleft of the mouth | Uneori (5–29%) |
| Dandy-Walker malformation | Uneori (5–29%) |
| Grooved tongue | Uneori (5–29%) |
| Highly arched eyebrow | Uneori (5–29%) |
| Nasal tip, upturned | Uneori (5–29%) |
| Prominent nasal bridge | Uneori (5–29%) |
| Round face | Neînregistrat |
| Wide mouth | Neînregistrat |
Abnormality of the musculoskeletal system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Delayed bone maturation | Întotdeauna |
| Low muscle tone | Întotdeauna |
| Osteopenia | Întotdeauna |
| Osteoporosis | Întotdeauna |
| Short long bone | Întotdeauna |
| Abnormality of the skeletal system | Foarte des (80–99%) |
| Abnormal shape of long bone | Des (30–79%) |
| Abnormal skeletal development | Des (30–79%) |
| Small end part of bone | Des (30–79%) |
| Small wings of the pelvic girdle | Des (30–79%) |
| Abnormal vertebral body morphology | Uneori (5–29%) |
| Scoliosis | Uneori (5–29%) |
| Generalized decreased muscle tone | Neînregistrat |
| Involuntary muscle stiffness, contraction, or spasm | Neînregistrat |
Abnormality of limbs
| Trăsătură | Cât de frecvent apare |
|---|---|
| Bowing of outer large bone of the forearm | Întotdeauna |
| Short neck of thighbone | Întotdeauna |
| Extra little finger | Foarte des (80–99%) |
| Extra toe attached near the little toe | Foarte des (80–99%) |
| Abnormality of the hipbone socket | Des (30–79%) |
| Talipes | Des (30–79%) |
| Bowing of the long bones | Uneori (5–29%) |
| Duplication of bones of the toes | Uneori (5–29%) |
| Extra finger | Uneori (5–29%) |
| Extra thumb | Uneori (5–29%) |
| More than five fingers or toes on hands or feet | Neînregistrat |
| Short fingers or toes | Neînregistrat |
Abnormality of the cardiovascular system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Enlarged liver and spleen | Des (30–79%) |
| High blood pressure | Des (30–79%) |
| Portal hypertension | Des (30–79%) |
| Abnormal cardiovascular system morphology | Uneori (5–29%) |
| Absent spleen | Uneori (5–29%) |
| Accessory spleen | Uneori (5–29%) |
| All organs on wrong side of body | Uneori (5–29%) |
| Carotid artery dilatation | Uneori (5–29%) |
| Increased spleen size | Uneori (5–29%) |
| Aneurysm | Neînregistrat |
Abnormality of the endocrine system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Reduced circulating growth hormone concentration | Întotdeauna |
| Hypopituitarism | Foarte des (80–99%) |
| Abnormality of the hypothalamus-pituitary axis | Uneori (5–29%) |
| Anterior hypopituitarism | Neînregistrat |
| Decreased response to growth hormone stimulation test | Neînregistrat |
| Low thyroid gland function due to abnormal pituitary gland | Neînregistrat |
Abnormality of the ear
| Trăsătură | Cât de frecvent apare |
|---|---|
| Sensorineural hearing impairment | Întotdeauna |
| Ears rotated toward back of head | Des (30–79%) |
| Hearing impairment | Des (30–79%) |
| Low-set ears | Uneori (5–29%) |
| Conductive deafness | Neînregistrat |
Abnormality of the respiratory system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormal pattern of respiration | Foarte des (80–99%) |
| Apnea | Foarte des (80–99%) |
| Episodic tachypnea | Foarte des (80–99%) |
| Breathing dysregulation | Neînregistrat |
Growth abnormality
| Trăsătură | Cât de frecvent apare |
|---|---|
| Obesity | Întotdeauna |
| Abnormality of body height | Des (30–79%) |
| Growth delay | Des (30–79%) |
| Short stature | Neînregistrat |
Laboratory abnormality
| Trăsătură | Cât de frecvent apare |
|---|---|
| High liver enzymes | Foarte des (80–99%) |
| Abnormal urinary electrolyte concentration | Des (30–79%) |
| Elevated alkaline phosphatase | Des (30–79%) |
| High bili total | Des (30–79%) |
Abnormality of blood and blood-forming tissues
| Trăsătură | Cât de frecvent apare |
|---|---|
| Low number of red blood cells or hemoglobin | Uneori (5–29%) |
Abnormality of prenatal development or birth
| Trăsătură | Cât de frecvent apare |
|---|---|
| Low levels of amniotic fluid | Des (30–79%) |
Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.
De unde provin aceste informații
- Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu TMEM67 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
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