Tunnused

Geeniga MTRFR seotud tunnused

mitochondrial translation release factor in rescue

Inimese fenotüübi ontoloogia seostab geeniga MTRFR 79 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Decreased touch sensation in extremities	Alati
Global developmental delay	Alati
Impaired distal vibration sensation	Alati
Increased reflexes	Alati
Loss of developmental milestones	Alati
Absent reflexes	Väga sageli (80–99%)
Ataxia	Väga sageli (80–99%)
Abnormal gait	Sageli (30–79%)
Abnormal pyramidal sign	Sageli (30–79%)
Babinski sign	Sageli (30–79%)
Clumsy tandem walking	Sageli (30–79%)
Cognitive impairment	Sageli (30–79%)
Decreased sensation in extremities	Sageli (30–79%)
Decreased sensory nerve conduction velocity	Sageli (30–79%)
Difficulty articulating speech	Sageli (30–79%)
Elevated brain lactate level by MRS	Sageli (30–79%)
Focal white matter lesions	Sageli (30–79%)
High stepping	Sageli (30–79%)
Intellectual disability, mild	Sageli (30–79%)
Knee clonus	Sageli (30–79%)
Onion bulb formation	Sageli (30–79%)
Overactive lower leg reflex	Sageli (30–79%)
Peripheral axonal neuropathy	Sageli (30–79%)
Peripheral nerve disease	Sageli (30–79%)
Peripheral neuropathy	Sageli (30–79%)
Poor fine motor coordination	Sageli (30–79%)
Underdevelopment of part of brain called corpus callosum	Sageli (30–79%)
Abnormal brainstem MRI signal intensity	Mõnikord (5–29%)
Abnormal cerebral white matter morphology	Mõnikord (5–29%)
Abnormal thalamic MRI signal intensity	Mõnikord (5–29%)
Decreased number of peripheral myelinated nerve fibers	Mõnikord (5–29%)
Inability to walk	Mõnikord (5–29%)
Intellectual disability	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Lower limb amyotrophy	Alati
Lower limb spasticity	Alati
Spastic paraplegia	Alati
Tibialis anterior muscle atrophy	Alati
Muscle degeneration	Väga sageli (80–99%)
Distal muscle wasting	Sageli (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sageli (30–79%)
Low muscle tone	Sageli (30–79%)
Spastic paraparesis	Sageli (30–79%)
Arthrogryposis multiplex congenita	Mõnikord (5–29%)
Bulbar palsy	Mõnikord (5–29%)
Decreased muscle tone in infant	Mõnikord (5–29%)
Thoracic scoliosis	Mõnikord (5–29%)
Muscle weakness	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Blind spot located at fixation point	Alati
Decreased clarity of vision	Alati
Involuntary, rapid, rhythmic eye movements	Alati
Optic atrophy	Alati
Visual impairment	Väga sageli (80–99%)
Cross-eyed	Sageli (30–79%)
Damaged optic nerve	Sageli (30–79%)
Drooping upper eyelid	Sageli (30–79%)
Eye muscle paralysis	Sageli (30–79%)
Paralysis or weakness of muscles within or surrounding outer part of eye	Sageli (30–79%)
Partial loss of field of vision	Sageli (30–79%)
Color blindness	Mõnikord (5–29%)
Exodeviation	Mõnikord (5–29%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Lower limb muscle weakness	Alati
Club feet	Sageli (30–79%)
Decreased arm strength	Sageli (30–79%)
Foot drop	Sageli (30–79%)
High-arched foot	Sageli (30–79%)
Tibialis muscle weakness	Sageli (30–79%)

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Facial diplegia	Alati
Chewing difficulties	Sageli (30–79%)
Facial paralysis	Sageli (30–79%)
Abnormal facial shape	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Paralytic ileus	Sageli (30–79%)
Poor swallowing	Sageli (30–79%)
Gastrostomy tube feeding in infancy	Mõnikord (5–29%)
Oral-pharyngeal dysphagia	Mõnikord (5–29%)

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Decreased activity of mitochondrial ATP synthase complex	Pole registreeritud
Decreased activity of mitochondrial complex I	Pole registreeritud
Decreased activity of mitochondrial complex IV	Pole registreeritud

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight	Sageli (30–79%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Higher than normal levels of lactate in blood	Alati

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 MTRFR seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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