Požymiai

Su TMEM67 susiję požymiai

transmembrane protein 67

Žmogaus fenotipo ontologija sieja 190 požymių su TMEM67, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

TMEM67

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Cerebellar vermis hypoplasia	Visada
Global developmental delay	Visada
Intellectual disability	Visada
Absent/small cerebellum	Labai dažnai (80–99%)
Ataxia	Labai dažnai (80–99%)
IQ between 34 and 49	Labai dažnai (80–99%)
Molar tooth sign on MRI	Labai dažnai (80–99%)
Abducens palsy	Dažnai (30–79%)
Abnormal gait	Dažnai (30–79%)
Cranial nerve paralysis	Dažnai (30–79%)
Extreme thirst	Dažnai (30–79%)
Increased reflexes	Dažnai (30–79%)
Lobar holoprosencephaly	Dažnai (30–79%)
Repetitive movements	Dažnai (30–79%)
Small brainstem	Dažnai (30–79%)
Thickened superior cerebellar peduncle	Dažnai (30–79%)
Abnormal cerebral white matter morphology	Kartais (5–29%)
Abnormality of neuronal migration	Kartais (5–29%)
Aggressive behavior	Kartais (5–29%)
Agitation	Kartais (5–29%)
Anencephaly	Kartais (5–29%)
Aplasia/Hypoplasia of the cerebellar vermis	Kartais (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Kartais (5–29%)
Attention deficit	Kartais (5–29%)
Diffuse cerebral atrophy	Kartais (5–29%)
Dilated fourth ventricle	Kartais (5–29%)
Dystonia	Kartais (5–29%)
Epilepsy	Kartais (5–29%)
More grooves in brain	Kartais (5–29%)
Suicidal ideation	Kartais (5–29%)
Too much cerebrospinal fluid in the brain	Kartais (5–29%)
Tremor	Kartais (5–29%)
Elongated superior cerebellar peduncle	Neužfiksuota
Enlarged fossa interpeduncularis	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Drooping upper eyelid	Visada
Involuntary, rapid, rhythmic eye movements	Visada
Outward facing eye ball	Visada
Rod-cone dystrophy	Visada
Total ophthalmoplegia	Visada
Oculomotor apraxia	Labai dažnai (80–99%)
Abnormal chorioretinal morphology	Dažnai (30–79%)
Abnormally small eyeball	Dažnai (30–79%)
Absent/small iris	Dažnai (30–79%)
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%)
Cornea of eye less than 10mm in diameter	Dažnai (30–79%)
Deeply set eye	Dažnai (30–79%)
Hardening of skin and connective tissue	Dažnai (30–79%)
Notched pupil	Dažnai (30–79%)
Optic atrophy	Dažnai (30–79%)
Optic disc coloboma	Dažnai (30–79%)
Visual impairment	Dažnai (30–79%)
Wide-set eyes	Dažnai (30–79%)
Absence of eyeballs	Kartais (5–29%)
Asymmetric pupil sizes	Kartais (5–29%)
Cross-eyed	Kartais (5–29%)
Optic disc pallor	Kartais (5–29%)
Retina degeneration	Kartais (5–29%)
Blindness	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Multicystic kidney dysplasia	Visada
Nephronophthisis	Visada
Renal failure	Visada
Stage 5 chronic kidney disease	Visada
Abnormal renal interstitial morphology	Dažnai (30–79%)
Ambiguous external genitalia	Dažnai (30–79%)
Chronic kidney disease	Dažnai (30–79%)
Hyperechogenic kidneys	Dažnai (30–79%)
Kidney damage	Dažnai (30–79%)
Reduced renal corticomedullary differentiation	Dažnai (30–79%)
Renal corticomedullary cysts	Dažnai (30–79%)
Small kidneys	Dažnai (30–79%)
Thickening of the tubular basement membrane	Dažnai (30–79%)
Tubular luminal dilatation	Dažnai (30–79%)
Undescended testes	Dažnai (30–79%)
Absent kidney on one side	Kartais (5–29%)
Cystic kidney disease	Kartais (5–29%)
Double ureter	Kartais (5–29%)
Kidney degeneration	Kartais (5–29%)
Male pseudohermaphroditism	Kartais (5–29%)
True hermaphroditism	Kartais (5–29%)
Urethral atresia	Kartais (5–29%)
Increased urine output	Neužfiksuota
Multiple small medullary renal cysts	Neužfiksuota
Renal tubular atrophy	Neužfiksuota
Tubular basement membrane disintegration	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Hepatic fibrosis	Visada
Abnormality of the liver	Labai dažnai (80–99%)
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%)
Malformation of the hepatic ductal plate	Labai dažnai (80–99%)
Bile duct proliferation	Dažnai (30–79%)
Feeding difficulties in infancy	Dažnai (30–79%)
Reduced number of intrahepatic bile ducts	Dažnai (30–79%)
Slowed or blocked flow of bile from liver	Dažnai (30–79%)
Accumulation of fluid in the abdomen	Kartais (5–29%)
Chronic liver failure	Kartais (5–29%)
Cystic liver disease	Kartais (5–29%)
Enlarged colon lacking nerve cells	Kartais (5–29%)
Enlarged vein in esophagus	Kartais (5–29%)
Inguinal hernia	Kartais (5–29%)
Intrahepatic bile duct dilatation	Kartais (5–29%)
Liver cancer	Kartais (5–29%)
Pancreatic cysts	Kartais (5–29%)
Pancreatic fibrosis	Kartais (5–29%)
Scar tissue replaces healthy tissue in the liver	Kartais (5–29%)
Abdomen abnormality	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Increased thickness of skull cap	Visada
Abnormally small head	Labai dažnai (80–99%)
Encephalocele	Labai dažnai (80–99%)
Brain tissue sticks out through back of skull	Dažnai (30–79%)
Cleft palate	Dažnai (30–79%)
Decreased width of the skull	Dažnai (30–79%)
Flat nose	Dažnai (30–79%)
Full cheeks	Dažnai (30–79%)
Little lower jaw	Dažnai (30–79%)
Long face	Dažnai (30–79%)
Sloping forehead	Dažnai (30–79%)
Aplasia/Hypoplasia of the tongue	Kartais (5–29%)
Big calvaria	Kartais (5–29%)
Cleft of the mouth	Kartais (5–29%)
Dandy-Walker malformation	Kartais (5–29%)
Grooved tongue	Kartais (5–29%)
Highly arched eyebrow	Kartais (5–29%)
Nasal tip, upturned	Kartais (5–29%)
Prominent nasal bridge	Kartais (5–29%)
Round face	Neužfiksuota
Wide mouth	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Delayed bone maturation	Visada
Low muscle tone	Visada
Osteopenia	Visada
Osteoporosis	Visada
Short long bone	Visada
Abnormality of the skeletal system	Labai dažnai (80–99%)
Abnormal shape of long bone	Dažnai (30–79%)
Abnormal skeletal development	Dažnai (30–79%)
Small end part of bone	Dažnai (30–79%)
Small wings of the pelvic girdle	Dažnai (30–79%)
Abnormal vertebral body morphology	Kartais (5–29%)
Scoliosis	Kartais (5–29%)
Generalized decreased muscle tone	Neužfiksuota
Involuntary muscle stiffness, contraction, or spasm	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Bowing of outer large bone of the forearm	Visada
Short neck of thighbone	Visada
Extra little finger	Labai dažnai (80–99%)
Extra toe attached near the little toe	Labai dažnai (80–99%)
Abnormality of the hipbone socket	Dažnai (30–79%)
Talipes	Dažnai (30–79%)
Bowing of the long bones	Kartais (5–29%)
Duplication of bones of the toes	Kartais (5–29%)
Extra finger	Kartais (5–29%)
Extra thumb	Kartais (5–29%)
More than five fingers or toes on hands or feet	Neužfiksuota
Short fingers or toes	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Enlarged liver and spleen	Dažnai (30–79%)
High blood pressure	Dažnai (30–79%)
Portal hypertension	Dažnai (30–79%)
Abnormal cardiovascular system morphology	Kartais (5–29%)
Absent spleen	Kartais (5–29%)
Accessory spleen	Kartais (5–29%)
All organs on wrong side of body	Kartais (5–29%)
Carotid artery dilatation	Kartais (5–29%)
Increased spleen size	Kartais (5–29%)
Aneurysm	Neužfiksuota

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Reduced circulating growth hormone concentration	Visada
Hypopituitarism	Labai dažnai (80–99%)
Abnormality of the hypothalamus-pituitary axis	Kartais (5–29%)
Anterior hypopituitarism	Neužfiksuota
Decreased response to growth hormone stimulation test	Neužfiksuota
Low thyroid gland function due to abnormal pituitary gland	Neužfiksuota

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Sensorineural hearing impairment	Visada
Ears rotated toward back of head	Dažnai (30–79%)
Hearing impairment	Dažnai (30–79%)
Low-set ears	Kartais (5–29%)
Conductive deafness	Neužfiksuota

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Abnormal pattern of respiration	Labai dažnai (80–99%)
Apnea	Labai dažnai (80–99%)
Episodic tachypnea	Labai dažnai (80–99%)
Breathing dysregulation	Neužfiksuota

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Obesity	Visada
Abnormality of body height	Dažnai (30–79%)
Growth delay	Dažnai (30–79%)
Short stature	Neužfiksuota

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
High liver enzymes	Labai dažnai (80–99%)
Abnormal urinary electrolyte concentration	Dažnai (30–79%)
Elevated alkaline phosphatase	Dažnai (30–79%)
High bili total	Dažnai (30–79%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Low number of red blood cells or hemoglobin	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Low levels of amniotic fluid	Dažnai (30–79%)

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

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su TMEM67 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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