Traits

Traits linked to MARS1

methionyl-tRNA synthetase 1

The Human Phenotype Ontology links 76 traits to MARS1, by body system: features seen in people with one of the gene's rare conditions.

MARS1

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Always
Ataxia	Always
Decreased sensation in extremities	Always
Delayed ability to walk	Always
Delayed speech and language development	Always
Diminished deep tendon reflex	Always
Global developmental delay	Always
High stepping	Always
Increased reflexes	Always
Intellectual disability	Always
Motor delay	Always
Peripheral axonal neuropathy	Always
Abnormal myelination	Often (30–79%)
Abnormality of movement	Often (30–79%)
Hand tremor	Often (30–79%)
Intellectual disability, mild	Often (30–79%)
Peripheral neuropathy	Often (30–79%)
Absent reflexes	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Distal muscle wasting	Always
Double-Jointed	Always
Involuntary muscle stiffness, contraction, or spasm	Always
Low muscle tone	Always
Muscle degeneration	Always
Weakness of outermost muscles	Always
Lower limb spasticity	Often (30–79%)
Progressive spastic paraplegia	Often (30–79%)
Scoliosis	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Bad bite	Always
Eye folds	Always
High palate	Always
High, narrow palate	Always
Little lower jaw	Always
Sparse eyebrow	Always
Abnormally small head	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Abnormal rhythmic movements of ankle	Always
Hand muscle degeneration	Always
Short fingers or toes	Always
Hand muscle weakness	Often (30–79%)
Shortening of the achilles tendon	Often (30–79%)
Clubbing of fingers and toes	Sometimes (5–29%)
Foot drop	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always
Liver failure	Always
Slowed or blocked flow of bile from liver	Always
Vomiting	Always
Enlarged liver	Very often (80–99%)
Scar tissue replaces healthy tissue in the liver	Sometimes (5–29%)
Hepatic fibrosis	Rarely (1–4%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormality in area between air sacs in lung	Always
Breathing difficulty	Very often (80–99%)
Low blood oxygen level	Often (30–79%)
Pulmonary scarring	Often (30–79%)
Cough	Sometimes (5–29%)
Intraalveolar phospholipid accumulation	Not recorded
Respiratory function loss	Not recorded

Laboratory abnormality

Trait	How often it is seen
Abnormal urinary amino-acid findings	Always
High blood ammonia levels	Always
Increased lactate in body	Always
Elevated circulating alanine aminotransferase concentration	Often (30–79%)
Elevated circulating aspartate aminotransferase concentration	Often (30–79%)
Elevated gamma-glutamyltransferase level	Often (30–79%)
Fatty infiltration of liver	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Chicken skin	Always
Ichthyosis	Always
Poor nail formation	Always
Sparse hair	Always
Tiger tail banding	Always

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Increased number of platelets in blood	Always
Low number of red blood cells or hemoglobin	Always

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Always
Sensorineural hearing impairment	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Growth delay	Always
Faltering weight	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Underactive thyroid	Always

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Nephrotic syndrome	Rarely (1–4%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to MARS1 and how often each is seen. Find out more at hpo.jax.org.

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