Traits

Traits linked to GMPPA

GDP-mannose pyrophosphorylase A

The Human Phenotype Ontology links 59 traits to GMPPA, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	How often it is seen
Absence of tears in the eyes	Always
Exodeviation	Always
Horizontal nystagmus	Always
Asymmetric pupil sizes	Sometimes (5–29%)
Corneal ulceration	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Always
Global developmental delay	Always
Intellectual disability	Very often (80–99%)
Ataxia	Sometimes (5–29%)
Increased reflexes	Sometimes (5–29%)
Loss of developmental milestones	Sometimes (5–29%)
Motor axonal neuropathy	Sometimes (5–29%)
Somatic sensory dysfunction	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Downturned corners of mouth	Always
Prominent nose	Always
Short philtrum	Always
Triangular face	Always
High frontal hairline	Often (30–79%)
Abnormally small head	Sometimes (5–29%)
Dry eye syndrome	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Narrowing of the esophagus	Always
Achalasia	Very often (80–99%)
Feeding difficulties in infancy	Often (30–79%)
Vomiting	Often (30–79%)
Feeding difficulties	Sometimes (5–29%)
Poor swallowing	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Adrenal insufficiency	Very often (80–99%)
Impaired cortisol response to corticotropin releasing hormone stimulation test	Often (30–79%)
Increased circulating ACTH level	Often (30–79%)
Low blood cortisol level	Often (30–79%)
Low blood aldosterone level	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Thickening of palms and soles	Often (30–79%)
Abnormality of the hypothenar eminence	Sometimes (5–29%)
High-arched foot	Sometimes (5–29%)
Plantar hyperkeratosis	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Generalized hyperpigmentation	Very often (80–99%)
Decreased ability to sweat	Sometimes (5–29%)
Hyperkeratosis	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Always
Low muscle tone	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Neonatal respiratory distress	Always
Cough	Often (30–79%)
Respiratory function loss	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight in infancy	Often (30–79%)
Short stature	Often (30–79%)
Weight loss	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Low blood pressure	Often (30–79%)
Decrease in blood pressure upon standing up	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Often (30–79%)
Sensorineural hearing impairment	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Hypoglycemic seizures	Often (30–79%)
Low blood sugar	Often (30–79%)

Abnormality of the voice

Trait	How often it is seen
Nasal speech	Often (30–79%)

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 GMPPA and how often each is seen. Find out more at hpo.jax.org.

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