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familial mucolipidosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial mucolipidosis

MONDO:0031422

Overview

OnsetINFANTILE

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

Age of onset: infancy.

GeneReviews

Clinical Guidance

Mucolipidosis III gamma (ML III) is a slowly progressive inborn error of metabolism mainly affecting skeletal, joint, and connective tissues. Clinical onset is in early childhood and the progressive course, including mild cardiac involvement, results in severe functional impairment and significant morbidity. A few (probably 10%) affected individuals may display mild cognitive impairment , but the majority do not. The initial manifestation in most affected individuals is joint stiffness in fingers as early as age 18 months . Growth. Weight and length at birth are within normal limits. Gradual slowing of growth rate begins in early childhood. Worsening hip and knee contractures add to the poor growth rate.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Formal diagnostic criteria for mucolipidosis III gamma have not been established.

Suggestive Findings

Mucolipidosis III gamma (ML III) should be suspected in individuals with the following clinical and radiographic findings .

Clinical findings

Growth rate deceleration
Joint stiffness of the fingers, shoulders, and hips

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for familial mucolipidosis. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with mucolipidosis III gamma (ML III), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with Mucolipidosis III

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 4. Recommended Surveillance for Individuals with Mucolipidosis III

System/Concern

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for familial mucolipidosis.

14 publications have been identified in PubMed for familial mucolipidosis. Research spans Case Report / Case Series (50%), Epidemiology / Natural History (14%), and Other (7%).

Research Type	Count	% of Total
Patient case studies	7	50%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 12:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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GeneReviews

Differential Diagnosis

Mucolipidosis II (ML II), ML III/, and ML III are all UDPGlcNAc 1-P-transferase deficiency disorders . Whereas the clinical phenotypes of ML III/ and ML III can be difficult to distinguish, the severe phenotype of ML II is easily differentiated. In general, the ML III phenotype is less severe than ML III/. See for inherited disorders to consider in the differential diagnosis of ML III. Table 2. Genes to Consider in the Differential Diagnosis of Mucolipidosis III Gamma (ML III)

Gene(s)	Disorder	MOI	Clinical Features of Differential Diagnosis Disorder
GNPTAB	ML III/ (See GNPTAB-Related Disorders.)1	AR	Clinical features of ML III are similar to but milder than those of ML III/.
Progressive pseudorheumatoid dysplasia	AR	Joint stiffness osteoarthritis; Spinal involvement (kyphoscoliosis, platyspondyly); Claw hands	Absence of dysostosis multiplex; Disease course less progressive; Normal level of serum hydrolases
COL2A1	Osteoarthritis w/mild chondrodysplasia (See Type II Collagen Disorders Overview.)	AD	Joint stiffness osteoarthritis; Mild short stature
CTSA	Juvenile galactosialidosis(OMIM 256540)	AR	Joint stiffness; Corneal clouding; Cardiac abnormalities; Facial coarseness; Dysostosis multiplex
GLB1	MPS IV B3 (See GLB1-Related Disorders.)	AR	Joint stiffness; Corneal clouding; Cardiac abnormalities; Normal intelligence
GUSB	MPS VII B4	AR	Dysostosis multiplex; Spinal deformities (kyphoscoliosis); Coarse facies; Corneal opacities; Cardiac involvement
IDS	Slowly progressive MPS II5	XL	Joint stiffness; Corneal clouding; Cardiac abnormalities; Facial coarseness; Dysostosis multiplex
IDUA	Slowly progressive MPS I6	AR	Joint stiffness; Corneal clouding; Cardiac abnormalities; Facial coarseness; Dysostosis multiplex
Alpha-mannosidosis	AR	Facial coarseness; Dysostosis multiplex	Organomegaly; Cognitive impairment; Hearing impairment; Normal level of serum hydrolases SLC17A5
Free sialic acid storage disorders	AR	Facial coarseness; Skeletal abnormalities	Organomegaly; Cognitive impairment; Neurologic abnormalities ...

Source: GeneReviews — "Mucolipidosis III Gamma"

Kisho

familial mucolipidosis

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Constitutional

Skeletal

Musculoskeletal

Development

Cardiac

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

familial mucolipidosis

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Constitutional

Skeletal

Musculoskeletal

Development

Cardiac

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications