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hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

MONDO:0014131

Also known as:SHAHEEN syndromeSHNS

Overview

GeneticsAutosomal recessive · COG6 (chr 13)

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 sometimes findings: Microcephaly. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Delayed speech and language development, Intellectual disability
Skin

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.

COG6 encodes component of oligomeric golgi complex 6 (657 aa). Required for normal Golgi function Highest expression in Pituitary (15.0 TPM) and Cells Cultured fibroblasts (13.1 TPM).

Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is associated with mutations in the COG6 gene on chromosome 13.

COG6 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for COG6 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome has been reported in the published literature.

Prognosis

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 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome.

200 publications have been identified in PubMed for hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome. Kisho has analyzed 98 by research type. Research spans Review / Meta-Analysis (38%), Basic Science / Preclinical (21%), and Epidemiology / Natural History (16%).

Research Type	Count	% of Total
Research summaries	37

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 1:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615328

Orphanet

European rare disease database

Orphanet:363523

GARD

Genetic and Rare Diseases Info Center

GARD:17562

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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Kisho

hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications