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hypospadias 2, X-linked - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypospadias 2, X-linked

MONDO:0010423

Also known as:hypospadias 2, X-linked, X-linked recessiveHYSP2

Overview

GeneticsX-linked · MAMLD1 (chr X)

ResearchLimited published research (4 articles)

Clinical Presentation

Features include always present findings: Penoscrotal hypospadias.

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.

MAMLD1 encodes mastermind like domain containing 1 (774 aa). Transactivates the HES3 promoter independently of NOTCH proteins. HES3 is a non-canonical NOTCH target gene which lacks binding sites for RBPJ Highest expression in Testis (36.4 TPM) and Ovary (33.9 TPM).

Hypospadias 2, X-linked is associated with mutations in the MAMLD1 gene on chromosome X.

The MAMLD1 protein participates in Signaling by NOTCH1 and NOTCH3 Intracellular Domain Regulates Transcription pathways.

MAMLD1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for MAMLD1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 hypospadias 2, X-linked.

4 publications have been identified in PubMed for hypospadias 2, X-linked. Research spans Case Report / Case Series (100%).

Recent Publications

Wu Q (2026). [PMID: 41842826](https://pubmed.ncbi.nlm.nih.gov/41842826/). *J Craniofac Surg*. [Case Report / Case Series]
Gan L (2025). [PMID: 39779334](https://pubmed.ncbi.nlm.nih.gov/39779334/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]
Yan Y (2025). [PMID: 40350402](https://pubmed.ncbi.nlm.nih.gov/40350402/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]
Margiotti K (2024). [PMID: 38962685](https://pubmed.ncbi.nlm.nih.gov/38962685/). *Case Rep Pediatr*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:03 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300758

GARD

Genetic and Rare Diseases Info Center

GARD:18186

Questions for Your Care Team

→Should female family members consider carrier screening for MAMLD1?
→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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hypospadias 2, X-linked

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team