Kjennetegn

Kjennetegn knyttet til TMEM67

transmembrane protein 67

Human Phenotype Ontology knytter 190 kjennetegn til TMEM67, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

TMEM67

Abnormality of the nervous system

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

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Drooping upper eyelid	Alltid
Involuntary, rapid, rhythmic eye movements	Alltid
Outward facing eye ball	Alltid
Rod-cone dystrophy	Alltid
Total ophthalmoplegia	Alltid
Oculomotor apraxia	Svært ofte (80–99 %)
Abnormal chorioretinal morphology	Ofte (30–79 %)
Abnormally small eyeball	Ofte (30–79 %)
Absent/small iris	Ofte (30–79 %)
Birth defect that causes a hole in the innermost layer at the back of the eye	Ofte (30–79 %)
Cat eye	Ofte (30–79 %)
Clouding of the lens of the eye	Ofte (30–79 %)
Cornea of eye less than 10mm in diameter	Ofte (30–79 %)
Deeply set eye	Ofte (30–79 %)
Hardening of skin and connective tissue	Ofte (30–79 %)
Notched pupil	Ofte (30–79 %)
Optic atrophy	Ofte (30–79 %)
Optic disc coloboma	Ofte (30–79 %)
Visual impairment	Ofte (30–79 %)
Wide-set eyes	Ofte (30–79 %)
Absence of eyeballs	Noen ganger (5–29 %)
Asymmetric pupil sizes	Noen ganger (5–29 %)
Cross-eyed	Noen ganger (5–29 %)
Optic disc pallor	Noen ganger (5–29 %)
Retina degeneration	Noen ganger (5–29 %)
Blindness	Ikke registrert

Abnormality of the genitourinary system

Kjennetegn	Hvor ofte den forekommer
Multicystic kidney dysplasia	Alltid
Nephronophthisis	Alltid
Renal failure	Alltid
Stage 5 chronic kidney disease	Alltid
Abnormal renal interstitial morphology	Ofte (30–79 %)
Ambiguous external genitalia	Ofte (30–79 %)
Chronic kidney disease	Ofte (30–79 %)
Hyperechogenic kidneys	Ofte (30–79 %)
Kidney damage	Ofte (30–79 %)
Reduced renal corticomedullary differentiation	Ofte (30–79 %)
Renal corticomedullary cysts	Ofte (30–79 %)
Small kidneys	Ofte (30–79 %)
Thickening of the tubular basement membrane	Ofte (30–79 %)
Tubular luminal dilatation	Ofte (30–79 %)
Undescended testes	Ofte (30–79 %)
Absent kidney on one side	Noen ganger (5–29 %)
Cystic kidney disease	Noen ganger (5–29 %)
Double ureter	Noen ganger (5–29 %)
Kidney degeneration	Noen ganger (5–29 %)
Male pseudohermaphroditism	Noen ganger (5–29 %)
True hermaphroditism	Noen ganger (5–29 %)
Urethral atresia	Noen ganger (5–29 %)
Increased urine output	Ikke registrert
Multiple small medullary renal cysts	Ikke registrert
Renal tubular atrophy	Ikke registrert
Tubular basement membrane disintegration	Ikke registrert

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
Hepatic fibrosis	Alltid
Abnormality of the liver	Svært ofte (80–99 %)
Enlarged liver	Svært ofte (80–99 %)
Excessive buildup of connective tissue and scarring of liver at birth	Svært ofte (80–99 %)
Intrahepatic biliary atresia	Svært ofte (80–99 %)
Malformation of the hepatic ductal plate	Svært ofte (80–99 %)
Bile duct proliferation	Ofte (30–79 %)
Feeding difficulties in infancy	Ofte (30–79 %)
Reduced number of intrahepatic bile ducts	Ofte (30–79 %)
Slowed or blocked flow of bile from liver	Ofte (30–79 %)
Accumulation of fluid in the abdomen	Noen ganger (5–29 %)
Chronic liver failure	Noen ganger (5–29 %)
Cystic liver disease	Noen ganger (5–29 %)
Enlarged colon lacking nerve cells	Noen ganger (5–29 %)
Enlarged vein in esophagus	Noen ganger (5–29 %)
Inguinal hernia	Noen ganger (5–29 %)
Intrahepatic bile duct dilatation	Noen ganger (5–29 %)
Liver cancer	Noen ganger (5–29 %)
Pancreatic cysts	Noen ganger (5–29 %)
Pancreatic fibrosis	Noen ganger (5–29 %)
Scar tissue replaces healthy tissue in the liver	Noen ganger (5–29 %)
Abdomen abnormality	Ikke registrert

Abnormality of head or neck

Kjennetegn	Hvor ofte den forekommer
Increased thickness of skull cap	Alltid
Abnormally small head	Svært ofte (80–99 %)
Encephalocele	Svært ofte (80–99 %)
Brain tissue sticks out through back of skull	Ofte (30–79 %)
Cleft palate	Ofte (30–79 %)
Decreased width of the skull	Ofte (30–79 %)
Flat nose	Ofte (30–79 %)
Full cheeks	Ofte (30–79 %)
Little lower jaw	Ofte (30–79 %)
Long face	Ofte (30–79 %)
Sloping forehead	Ofte (30–79 %)
Aplasia/Hypoplasia of the tongue	Noen ganger (5–29 %)
Big calvaria	Noen ganger (5–29 %)
Cleft of the mouth	Noen ganger (5–29 %)
Dandy-Walker malformation	Noen ganger (5–29 %)
Grooved tongue	Noen ganger (5–29 %)
Highly arched eyebrow	Noen ganger (5–29 %)
Nasal tip, upturned	Noen ganger (5–29 %)
Prominent nasal bridge	Noen ganger (5–29 %)
Round face	Ikke registrert
Wide mouth	Ikke registrert

Abnormality of the musculoskeletal system

Kjennetegn	Hvor ofte den forekommer
Delayed bone maturation	Alltid
Low muscle tone	Alltid
Osteopenia	Alltid
Osteoporosis	Alltid
Short long bone	Alltid
Abnormality of the skeletal system	Svært ofte (80–99 %)
Abnormal shape of long bone	Ofte (30–79 %)
Abnormal skeletal development	Ofte (30–79 %)
Small end part of bone	Ofte (30–79 %)
Small wings of the pelvic girdle	Ofte (30–79 %)
Abnormal vertebral body morphology	Noen ganger (5–29 %)
Scoliosis	Noen ganger (5–29 %)
Generalized decreased muscle tone	Ikke registrert
Involuntary muscle stiffness, contraction, or spasm	Ikke registrert

Abnormality of limbs

Kjennetegn	Hvor ofte den forekommer
Bowing of outer large bone of the forearm	Alltid
Short neck of thighbone	Alltid
Extra little finger	Svært ofte (80–99 %)
Extra toe attached near the little toe	Svært ofte (80–99 %)
Abnormality of the hipbone socket	Ofte (30–79 %)
Talipes	Ofte (30–79 %)
Bowing of the long bones	Noen ganger (5–29 %)
Duplication of bones of the toes	Noen ganger (5–29 %)
Extra finger	Noen ganger (5–29 %)
Extra thumb	Noen ganger (5–29 %)
More than five fingers or toes on hands or feet	Ikke registrert
Short fingers or toes	Ikke registrert

Abnormality of the cardiovascular system

Kjennetegn	Hvor ofte den forekommer
Enlarged liver and spleen	Ofte (30–79 %)
High blood pressure	Ofte (30–79 %)
Portal hypertension	Ofte (30–79 %)
Abnormal cardiovascular system morphology	Noen ganger (5–29 %)
Absent spleen	Noen ganger (5–29 %)
Accessory spleen	Noen ganger (5–29 %)
All organs on wrong side of body	Noen ganger (5–29 %)
Carotid artery dilatation	Noen ganger (5–29 %)
Increased spleen size	Noen ganger (5–29 %)
Aneurysm	Ikke registrert

Abnormality of the endocrine system

Kjennetegn	Hvor ofte den forekommer
Reduced circulating growth hormone concentration	Alltid
Hypopituitarism	Svært ofte (80–99 %)
Abnormality of the hypothalamus-pituitary axis	Noen ganger (5–29 %)
Anterior hypopituitarism	Ikke registrert
Decreased response to growth hormone stimulation test	Ikke registrert
Low thyroid gland function due to abnormal pituitary gland	Ikke registrert

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Sensorineural hearing impairment	Alltid
Ears rotated toward back of head	Ofte (30–79 %)
Hearing impairment	Ofte (30–79 %)
Low-set ears	Noen ganger (5–29 %)
Conductive deafness	Ikke registrert

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Abnormal pattern of respiration	Svært ofte (80–99 %)
Apnea	Svært ofte (80–99 %)
Episodic tachypnea	Svært ofte (80–99 %)
Breathing dysregulation	Ikke registrert

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Obesity	Alltid
Abnormality of body height	Ofte (30–79 %)
Growth delay	Ofte (30–79 %)
Short stature	Ikke registrert

Laboratory abnormality

Kjennetegn	Hvor ofte den forekommer
High liver enzymes	Svært ofte (80–99 %)
Abnormal urinary electrolyte concentration	Ofte (30–79 %)
Elevated alkaline phosphatase	Ofte (30–79 %)
High bili total	Ofte (30–79 %)

Abnormality of blood and blood-forming tissues

Kjennetegn	Hvor ofte den forekommer
Low number of red blood cells or hemoglobin	Noen ganger (5–29 %)

Abnormality of prenatal development or birth

Kjennetegn	Hvor ofte den forekommer
Low levels of amniotic fluid	Ofte (30–79 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til TMEM67 og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

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