Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

renal hypomagnesemia 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

renal hypomagnesemia 4

MONDO:0012717

Also known as:EGF familial primary hypomagnesemiaEGF primary hypomagnesemiaHOMG4

Overview

Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene.

GeneticsAutosomal recessive · EGF (chr 4)

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: Moderate intellectual disability, Hypomagnesemia, Seizure, and Global developmental delay.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Moderate intellectual disability, Seizure, Global developmental delay

Explore clinical features

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.

EGF encodes epidermal growth factor (1,207 aa). EGF stimulates the growth of various epidermal and epithelial tissues in vivo and in vitro and of some fibroblasts in cell culture. Highest expression in Kidney Medulla (43.6 TPM) and Muscle Skeletal (23.0 TPM).

Renal hypomagnesemia 4 has limited evidence linking it to mutations in the EGF gene on chromosome 4.

EGF is classified as a druggable target (Clinically Actionable, Drug Resistance, Druggable Genome, and Growth Factor categories) with score 8.7.

Diagnosis

Genetic testing for EGF is available. Testing is considered research-grade for diagnosis.

Biomarker and diagnostic research for renal hypomagnesemia 4 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 always present features.

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 renal hypomagnesemia 4.

52 publications have been identified in PubMed for renal hypomagnesemia 4. Research spans Case Report / Case Series (46%), Review / Meta-Analysis (13%), and Clinical Trial Publication (13%).

Research Type	Count	% of Total
Patient case studies	24	46%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 8:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611718

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

renal hypomagnesemia 4

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications