Tunnused

Geeniga TMEM67 seotud tunnused

transmembrane protein 67

Inimese fenotüübi ontoloogia seostab geeniga TMEM67 190 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

TMEM67

Abnormality of the nervous system

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

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Drooping upper eyelid	Alati
Involuntary, rapid, rhythmic eye movements	Alati
Outward facing eye ball	Alati
Rod-cone dystrophy	Alati
Total ophthalmoplegia	Alati
Oculomotor apraxia	Väga sageli (80–99%)
Abnormal chorioretinal morphology	Sageli (30–79%)
Abnormally small eyeball	Sageli (30–79%)
Absent/small iris	Sageli (30–79%)
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%)
Cornea of eye less than 10mm in diameter	Sageli (30–79%)
Deeply set eye	Sageli (30–79%)
Hardening of skin and connective tissue	Sageli (30–79%)
Notched pupil	Sageli (30–79%)
Optic atrophy	Sageli (30–79%)
Optic disc coloboma	Sageli (30–79%)
Visual impairment	Sageli (30–79%)
Wide-set eyes	Sageli (30–79%)
Absence of eyeballs	Mõnikord (5–29%)
Asymmetric pupil sizes	Mõnikord (5–29%)
Cross-eyed	Mõnikord (5–29%)
Optic disc pallor	Mõnikord (5–29%)
Retina degeneration	Mõnikord (5–29%)
Blindness	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Multicystic kidney dysplasia	Alati
Nephronophthisis	Alati
Renal failure	Alati
Stage 5 chronic kidney disease	Alati
Abnormal renal interstitial morphology	Sageli (30–79%)
Ambiguous external genitalia	Sageli (30–79%)
Chronic kidney disease	Sageli (30–79%)
Hyperechogenic kidneys	Sageli (30–79%)
Kidney damage	Sageli (30–79%)
Reduced renal corticomedullary differentiation	Sageli (30–79%)
Renal corticomedullary cysts	Sageli (30–79%)
Small kidneys	Sageli (30–79%)
Thickening of the tubular basement membrane	Sageli (30–79%)
Tubular luminal dilatation	Sageli (30–79%)
Undescended testes	Sageli (30–79%)
Absent kidney on one side	Mõnikord (5–29%)
Cystic kidney disease	Mõnikord (5–29%)
Double ureter	Mõnikord (5–29%)
Kidney degeneration	Mõnikord (5–29%)
Male pseudohermaphroditism	Mõnikord (5–29%)
True hermaphroditism	Mõnikord (5–29%)
Urethral atresia	Mõnikord (5–29%)
Increased urine output	Pole registreeritud
Multiple small medullary renal cysts	Pole registreeritud
Renal tubular atrophy	Pole registreeritud
Tubular basement membrane disintegration	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Hepatic fibrosis	Alati
Abnormality of the liver	Väga sageli (80–99%)
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%)
Malformation of the hepatic ductal plate	Väga sageli (80–99%)
Bile duct proliferation	Sageli (30–79%)
Feeding difficulties in infancy	Sageli (30–79%)
Reduced number of intrahepatic bile ducts	Sageli (30–79%)
Slowed or blocked flow of bile from liver	Sageli (30–79%)
Accumulation of fluid in the abdomen	Mõnikord (5–29%)
Chronic liver failure	Mõnikord (5–29%)
Cystic liver disease	Mõnikord (5–29%)
Enlarged colon lacking nerve cells	Mõnikord (5–29%)
Enlarged vein in esophagus	Mõnikord (5–29%)
Inguinal hernia	Mõnikord (5–29%)
Intrahepatic bile duct dilatation	Mõnikord (5–29%)
Liver cancer	Mõnikord (5–29%)
Pancreatic cysts	Mõnikord (5–29%)
Pancreatic fibrosis	Mõnikord (5–29%)
Scar tissue replaces healthy tissue in the liver	Mõnikord (5–29%)
Abdomen abnormality	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Increased thickness of skull cap	Alati
Abnormally small head	Väga sageli (80–99%)
Encephalocele	Väga sageli (80–99%)
Brain tissue sticks out through back of skull	Sageli (30–79%)
Cleft palate	Sageli (30–79%)
Decreased width of the skull	Sageli (30–79%)
Flat nose	Sageli (30–79%)
Full cheeks	Sageli (30–79%)
Little lower jaw	Sageli (30–79%)
Long face	Sageli (30–79%)
Sloping forehead	Sageli (30–79%)
Aplasia/Hypoplasia of the tongue	Mõnikord (5–29%)
Big calvaria	Mõnikord (5–29%)
Cleft of the mouth	Mõnikord (5–29%)
Dandy-Walker malformation	Mõnikord (5–29%)
Grooved tongue	Mõnikord (5–29%)
Highly arched eyebrow	Mõnikord (5–29%)
Nasal tip, upturned	Mõnikord (5–29%)
Prominent nasal bridge	Mõnikord (5–29%)
Round face	Pole registreeritud
Wide mouth	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Delayed bone maturation	Alati
Low muscle tone	Alati
Osteopenia	Alati
Osteoporosis	Alati
Short long bone	Alati
Abnormality of the skeletal system	Väga sageli (80–99%)
Abnormal shape of long bone	Sageli (30–79%)
Abnormal skeletal development	Sageli (30–79%)
Small end part of bone	Sageli (30–79%)
Small wings of the pelvic girdle	Sageli (30–79%)
Abnormal vertebral body morphology	Mõnikord (5–29%)
Scoliosis	Mõnikord (5–29%)
Generalized decreased muscle tone	Pole registreeritud
Involuntary muscle stiffness, contraction, or spasm	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Bowing of outer large bone of the forearm	Alati
Short neck of thighbone	Alati
Extra little finger	Väga sageli (80–99%)
Extra toe attached near the little toe	Väga sageli (80–99%)
Abnormality of the hipbone socket	Sageli (30–79%)
Talipes	Sageli (30–79%)
Bowing of the long bones	Mõnikord (5–29%)
Duplication of bones of the toes	Mõnikord (5–29%)
Extra finger	Mõnikord (5–29%)
Extra thumb	Mõnikord (5–29%)
More than five fingers or toes on hands or feet	Pole registreeritud
Short fingers or toes	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Enlarged liver and spleen	Sageli (30–79%)
High blood pressure	Sageli (30–79%)
Portal hypertension	Sageli (30–79%)
Abnormal cardiovascular system morphology	Mõnikord (5–29%)
Absent spleen	Mõnikord (5–29%)
Accessory spleen	Mõnikord (5–29%)
All organs on wrong side of body	Mõnikord (5–29%)
Carotid artery dilatation	Mõnikord (5–29%)
Increased spleen size	Mõnikord (5–29%)
Aneurysm	Pole registreeritud

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Reduced circulating growth hormone concentration	Alati
Hypopituitarism	Väga sageli (80–99%)
Abnormality of the hypothalamus-pituitary axis	Mõnikord (5–29%)
Anterior hypopituitarism	Pole registreeritud
Decreased response to growth hormone stimulation test	Pole registreeritud
Low thyroid gland function due to abnormal pituitary gland	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Sensorineural hearing impairment	Alati
Ears rotated toward back of head	Sageli (30–79%)
Hearing impairment	Sageli (30–79%)
Low-set ears	Mõnikord (5–29%)
Conductive deafness	Pole registreeritud

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Abnormal pattern of respiration	Väga sageli (80–99%)
Apnea	Väga sageli (80–99%)
Episodic tachypnea	Väga sageli (80–99%)
Breathing dysregulation	Pole registreeritud

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Obesity	Alati
Abnormality of body height	Sageli (30–79%)
Growth delay	Sageli (30–79%)
Short stature	Pole registreeritud

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
High liver enzymes	Väga sageli (80–99%)
Abnormal urinary electrolyte concentration	Sageli (30–79%)
Elevated alkaline phosphatase	Sageli (30–79%)
High bili total	Sageli (30–79%)

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Low number of red blood cells or hemoglobin	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Low levels of amniotic fluid	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 TMEM67 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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