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

hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature

MONDO:0957495

Overview

GeneticsX-linked · C1GALT1C1 (chr X)

OnsetCONGENITAL

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: Hemolytic-uremic syndrome, Prominent nasolabial fold, Hyperechogenic kidneys, and Retrognathia and others; and common findings: Disproportionate short stature, Moderate proteinuria, Recurrent infections, and Low red blood cell count (anemia) and others.

Organ System	Phenotype Count	Example Features
Blood and immune system	8	Hemolytic-uremic syndrome, Recurrent infections, Low red blood cell count (anemia)

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.

C1GALT1C1 encodes C1GALT1 specific chaperone 1 (318 aa). Probable chaperone required for the generation of 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins.

Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature has limited evidence linking it to mutations in the C1GALT1C1 gene on chromosome X.

The C1GALT1C1 protein participates in C1GALT1C1 mutants, Defective C1GALT1C1 causes TNPS, and Defective C1GALT1C1 does not bind C1GALT1 pathways.

C1GALT1C1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for C1GALT1C1 is available. Testing is considered research-grade for diagnosis.

Prognosis

Phenotype severity distribution: 12 always present features, 15 common features.

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:48 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:301110

Questions for Your Care Team

→Should female family members consider carrier screening for C1GALT1C1?
→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

hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features