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spondyloepimetaphyseal dysplasia, Shohat type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spondyloepimetaphyseal dysplasia, Shohat type

MONDO:0011252

Also known as:SEMD, Shohat typeSEMD Shohat typeSEMDSH

Overview

A spondyloepimetaphyseal dysplasia characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.

GeneticsAutosomal recessive · DDRGK1 (chr 20)

OnsetINFANTILE, ANTENATAL

ResearchLimited published research (2 articles)

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: Disproportionate short-limb short stature, Limb undergrowth, and Short neck; and sometimes findings: Hoarse voice. 28 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	8	Short femoral neck, Narrow vertebral interpedicular distance, Excessive inward curve of the lower back (lumbar hyperlordosis)

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.

DDRGK1 encodes DDRGK domain containing 1 (314 aa). Component of the UFM1 ribosome E3 ligase (UREL) complex, a multiprotein complex that catalyzes ufmylation of endoplasmic reticulum-docked proteins. Highest expression in Brain Cerebellar Hemisphere (110.4 TPM) and Brain Cerebellum (108.5 TPM).

Spondyloepimetaphyseal dysplasia, Shohat type is associated with mutations in the DDRGK1 gene on chromosome 20.

DDRGK1 is classified as a druggable target (Nuclear Hormone Receptor category) with score 0.0.

Diagnosis

Genetic testing for DDRGK1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present 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.

No clinical trials have been registered for spondyloepimetaphyseal dysplasia, Shohat type.

2 publications have been identified in PubMed for spondyloepimetaphyseal dysplasia, Shohat type. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

Yan T (2025). [PMID: 40468360](https://pubmed.ncbi.nlm.nih.gov/40468360/). *Mol Neurodegener*. [Review / Meta-Analysis]
Katoku-Kikyo N (2025). [PMID: 40307229](https://pubmed.ncbi.nlm.nih.gov/40307229/). *Nat Commun*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 9:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:602557

Orphanet

European rare disease database

Orphanet:93352

GARD

Genetic and Rare Diseases Info Center

GARD:4980

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?

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spondyloepimetaphyseal dysplasia, Shohat type

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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