Tunnused

Geeniga MARS1 seotud tunnused

methionyl-tRNA synthetase 1

Inimese fenotüübi ontoloogia seostab geeniga MARS1 76 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

MARS1

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Abnormal gait	Alati
Ataxia	Alati
Decreased sensation in extremities	Alati
Delayed ability to walk	Alati
Delayed speech and language development	Alati
Diminished deep tendon reflex	Alati
Global developmental delay	Alati
High stepping	Alati
Increased reflexes	Alati
Intellectual disability	Alati
Motor delay	Alati
Peripheral axonal neuropathy	Alati
Abnormal myelination	Sageli (30–79%)
Abnormality of movement	Sageli (30–79%)
Hand tremor	Sageli (30–79%)
Intellectual disability, mild	Sageli (30–79%)
Peripheral neuropathy	Sageli (30–79%)
Absent reflexes	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Distal muscle wasting	Alati
Double-Jointed	Alati
Involuntary muscle stiffness, contraction, or spasm	Alati
Low muscle tone	Alati
Muscle degeneration	Alati
Weakness of outermost muscles	Alati
Lower limb spasticity	Sageli (30–79%)
Progressive spastic paraplegia	Sageli (30–79%)
Scoliosis	Mõnikord (5–29%)

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Bad bite	Alati
Eye folds	Alati
High palate	Alati
High, narrow palate	Alati
Little lower jaw	Alati
Sparse eyebrow	Alati
Abnormally small head	Sageli (30–79%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Abnormal rhythmic movements of ankle	Alati
Hand muscle degeneration	Alati
Short fingers or toes	Alati
Hand muscle weakness	Sageli (30–79%)
Shortening of the achilles tendon	Sageli (30–79%)
Clubbing of fingers and toes	Mõnikord (5–29%)
Foot drop	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Feeding difficulties	Alati
Liver failure	Alati
Slowed or blocked flow of bile from liver	Alati
Vomiting	Alati
Enlarged liver	Väga sageli (80–99%)
Scar tissue replaces healthy tissue in the liver	Mõnikord (5–29%)
Hepatic fibrosis	Harva (1–4%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Abnormality in area between air sacs in lung	Alati
Breathing difficulty	Väga sageli (80–99%)
Low blood oxygen level	Sageli (30–79%)
Pulmonary scarring	Sageli (30–79%)
Cough	Mõnikord (5–29%)
Intraalveolar phospholipid accumulation	Pole registreeritud
Respiratory function loss	Pole registreeritud

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Abnormal urinary amino-acid findings	Alati
High blood ammonia levels	Alati
Increased lactate in body	Alati
Elevated circulating alanine aminotransferase concentration	Sageli (30–79%)
Elevated circulating aspartate aminotransferase concentration	Sageli (30–79%)
Elevated gamma-glutamyltransferase level	Sageli (30–79%)
Fatty infiltration of liver	Mõnikord (5–29%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Chicken skin	Alati
Ichthyosis	Alati
Poor nail formation	Alati
Sparse hair	Alati
Tiger tail banding	Alati

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Increased number of platelets in blood	Alati
Low number of red blood cells or hemoglobin	Alati

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Low-set ears	Alati
Sensorineural hearing impairment	Sageli (30–79%)

Growth abnormality

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

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Underactive thyroid	Alati

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Wide-set eyes	Alati

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Nephrotic syndrome	Harva (1–4%)

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 MARS1 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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