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hypotonia-cystinuria syndrome (HCS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypotonia-cystinuria syndrome

MONDO:0011669

Also known as:HCScystinuria with mitochondrial diseasehypotonia-cystinuria syndrome type 1

Find Clinical TrialsTrials

Overview

A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.

GeneticsAutosomal recessive

OnsetANTENATAL, NEONATAL, CONGENITAL

Clinical Trials1 registered

ResearchLimited published research (1 article)

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: Cystinuria, Failure to thrive, Feeding difficulties in infancy, and Postnatal growth retardation and others; and common findings: Seizure, Increased circulating lactate concentration, and Hypocalcemia. 35 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	6	Low muscle tone (hypotonia), Generalized hypotonia, Muscle weakness

Prognosis

Phenotype severity distribution: 10 always present features, 3 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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.

1 clinical trial registered. Interventions under study include procedural interventions. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

1 publication has been identified in PubMed for hypotonia-cystinuria syndrome. Research spans Other (100%).

Recent Publications

Cuk M (2024). [PMID: 39062725](https://pubmed.ncbi.nlm.nih.gov/39062725/). *Genes (Basel)*. [Other]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 3:08 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:606407

Orphanet

European rare disease database

Orphanet:163690 Orphanet:238517

GARD

Genetic and Rare Diseases Info Center

GARD:16998

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→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

Kisho

hypotonia-cystinuria syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Identification and characterisation of a novel homozygous KDM5A variant associated with severe axial hypotonia, seizures, and cardiac anomalies.

Acceptance without Answers - Rare Disease Day 2026

hypotonia-cystinuria syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Identification and characterisation of a novel homozygous KDM5A variant associated with severe axial hypotonia, seizures, and cardiac anomalies.

Acceptance without Answers - Rare Disease Day 2026