GNPTG-mucolipidosis
Findings
No curated finding names GNPTG-mucolipidosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.
Definition from the Mondo Disease Ontology (MONDO:0009652), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- ArthralgiaHPOHP:0002829
- 3 of 3 reported patients
- Claw hand deformityHPOHP:0034337
- 1 of 1 reported patient
- Finger joint contractureHPOHP:0034681
- 3 of 3 reported patients
- Flat capital femoral epiphysisHPOHP:0003370
- 1 of 1 reported patient
- Genu valgumHPOHP:0002857
- 3 of 3 reported patients
- HyperlordosisHPOHP:0003307
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GNPTGHGNC:23026
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2023
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: GNPTG-mucolipidosis
- Also called
- ML 3 gammaML III gammamucolipidosis type 3 gammamucolipidosis type III gamma