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thrombocytopenia 12 with or without myopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

thrombocytopenia 12 with or without myopathy

MONDO:0958325

Overview

GeneticsAutosomal recessive · GNE (chr 9)

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.

Features include always present findings: Menorrhagia, Increased mean platelet volume, Bruising susceptibility, and Petechiae and others; and common findings: Increased megakaryocyte count and Epistaxis. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	3	Increased mean platelet volume, Anti-platelet antigen antibody positivity, Low platelet count (thrombocytopenia)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GNE encodes glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (722 aa). Bifunctional enzyme that possesses both UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities, and serves as the initiator of the biosynthetic pathway leading to the production of N-acetylneuraminic acid (NeuAc), a critical precursor in the synthesis of sialic acids. Highest expression in Liver (33.4 TPM) and Minor Salivary Gland (24.0 TPM).

Thrombocytopenia 12 with or without myopathy is associated with mutations in the GNE gene on chromosome 9.

GNE is classified as a druggable target (Enzyme and Kinase categories) with score 0.0.

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

Suggestive Findings

GNE myopathy should be suspected in individuals with the following findings.

Clinical findings

Myopathy presenting in young adults with bilateral foot drop caused by anterior tibialis weakness, followed by slowly progressive skeletal muscle weakness. Although there is relative sparing of the quadriceps, they may become affected at late stages of the disease. The clinical picture varies depending on the stage of disease progression at which individuals are evaluated .

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 thrombocytopenia 12 with or without myopathy. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Individuals with GNE myopathy are often evaluated and managed by a multidisciplinary team that includes clinical geneticists, neuromuscular specialists, physiatrists, physical and occupational therapists, and if needed, pulmonologists. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with GNE myopathy, 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 GNE Myopathy

Prognosis

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

GeneReviews

Surveillance Guidelines

Routine follow up with the multidisciplinary team is recommended annually, or more frequently as determined by managing physician . Table 5. Recommended Multidisciplinary Team Surveillance for Individuals with GNE Myopathy

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 thrombocytopenia 12 with or without myopathy.

245 publications have been identified in PubMed for thrombocytopenia 12 with or without myopathy. Kisho has analyzed 147 by research type. Research spans Review / Meta-Analysis (50%), Basic Science / Preclinical (20%), and Case Report / Case Series (12%).

Research Type	Count	% of Total
Research summaries	73	50%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620757

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

GeneReviews

Differential Diagnosis

The differential diagnosis includes adult-onset distal myopathies and myopathies with rimmed vacuoles . Table 2. Genes of Interest in the Differential Diagnosis of GNE Myopathy

Gene	Disorder	MOI	Age at Onset (Years)	Initial Muscle Group Involved	Serum Creatine Kinase Concentration	Muscle Biopsy
ANO5	Miyoshi muscular dystrophy 3 (See ANO5 Muscle Disease.)	AR	20-25	Posterior lower legs; asymmetry	10x ULN	Myopathic changes (rarely) necrotic fibers
DNAJB6	LGMD1D1 (OMIM 603511)	AD	18-50	Lower leg posterior anterior; ± dysphagia	Normal to 8x ULN	Myofibrillar myopathy2 rimmed vacuoles
DYSF	Miyoshi distal myopathy (See Dysferlinopathy.)	AR	15-30	Posterior lower leg	10x ULN	Myopathic changes
LDB3 (ZASP)	Zaspopathy3 (myofibrillar myopathy 4) (OMIM 609452)	AD	40-70	Lower leg	Normal to 6x ULN	Myofibrillar myopathy2 ± rimmed vacuoles
MATR3	Amyotrophic lateral sclerosis 214 (OMIM 606070)	AD	35-60	Asymmetric lower leg ± hands; dysphagia; dysphonia	Normal to 8x ULN	Myopathic changes rimmed vacuoles
MYH7	Laing distal myopathy5	AD	0-50	Anterior lower leg	Normal to 4x ULN	Type 1 fiber atrophy
MYOT	Myotilinopathy6 (myofibrillar myopathy 3) (OMIM 609200)	AD	40-70	Lower leg post ant	Normal to 2x ULN	Myofibrillar myopathy2 ± rimmed vacuoles
TIA1	Welander distal myopathy7 (OMIM 604454)	AD	40-60	Finger extensors	Normal or slightly	Myopathic changes rimmed vacuoles
TTN (exon 364)	Udd distal myopathy – tibial muscular dystrophy8	AD	35	Anterior lower leg	Normal or slightly	Myopathic changes ± rimmed vacuoles
TTN	Limb-girdle muscular dystrophy, autosomal recessive, 108 (LGMDR10) (OMIM 608807)	AR	14-44	Anterior lower leg	Normal to 8x ULN	Myopathic changes ± rimmed vacuoles
VCP	Inclusion body myopathy, Paget disease frontotemporal dementia9; (IBMPFD)	AD	35	Hip girdle	Normal to 5x ULN	Myopathic changes rimmed vacuoles AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance; ULN = upper limit of normal; XL = X-linked 1.

Source: GeneReviews — "GNE Myopathy"

System/Concern	Evaluation	Comment
Musculoskeletal	Neuromuscular, physical medicine rehab/PT/OT evaluation	To determine extent of disease as determined by:; Muscle strength; Balance; Function; Fine motor skills; Impact on activities of daily living; Need for ongoing PT/OT; Need for AFOs, assistive ambulatory devices; Need for adaptive devices; Need for handicapped parking
Respiratory	Respiratory function tests incl supine sitting spirometry, MIP, MEP	To evaluate for effects of muscle weakness on respiratory function esp in nonambulatory individuals
Cardiac	Baseline echocardiogram	To evaluate for evidence of cardiac involvement Genetic
counseling	By genetics professional1	To review results of genetic testing to inform patients families about the nature, MOI, implications of GNE myopathy to facilitate medical personal decision making Family support resources
Treatment of Manifestations in Individuals with GNE Myopathy Manifestation/Concern	Treatment	Considerations/Other
Musculoskeletal	PT, rehab medicine	Ambulatory assistive devices, balanced physical activity,1 regular exercise as tolerated. Activities of
daily living	PT	Transfers (e.g., from bed to wheelchair, wheelchair to car); Medical alert system for those unable to stand after a fall OT
Respiratory	Respiratory function	A concern mostly in nonambulatory affected individuals OT = occupational therapy; PT = physical therapy 1. All affected individuals should consult their physician before beginning an exercise program.
Recommended Multidisciplinary Team Surveillance for Individuals with GNE Myopathy System/Concern	Evaluation	Frequency
Neuromuscular	Evaluate disease progression; coordinate care.	Rehab medicine; Muscle strength testing using a quantitative scale, e.g., MMT, hand-held dynamometry, or QMA1 to evaluate progressive muscle involvement; Physical function, e.g., 6-min walk test, AMAT2; Activities of daily living
therapy	Evaluation management for balance need for AFOs, cane, walker, wheelchair, powerchair	At least annually, or more frequently based on needs Occupational
therapy	Evaluation management of fine motor skills hand function, e.g., Jebsen Hand Function Test3	At least annually
Respiratory	PFTs incl supine sitting spirometry, MIP MEP on affected individuals at advanced stages of disease	As needed, if symptomatic or if abnormal PFTs Cardiac

Kisho

thrombocytopenia 12 with or without myopathy

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

thrombocytopenia 12 with or without myopathy

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications