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hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities (HIDEA) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities

MONDO:0032780

Also known as:HIDEA

Overview

GeneticsAutosomal recessive · P4HTM (chr 3)

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: Profound intellectual disability, Hip contracture, Generalized hypotonia, and Coarse facial features and others; and very common findings: Exotropia and Obesity. 40 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Inability to walk, Seizure, Profound intellectual disability

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.

P4HTM encodes prolyl 4-hydroxylase, transmembrane (502 aa). Catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates HIF1A at 'Pro-402' and 'Pro-564'. Highest expression in Pituitary (91.8 TPM) and Brain Cerebellum (65.8 TPM).

Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities is associated with mutations in the P4HTM gene on chromosome 3.

P4HTM is classified as a druggable target (Druggable Genome and Transcription Factor categories) with score 5.2.

Diagnosis

Genetic testing for P4HTM is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 8 always present features, 2 very common features, 4 common features.

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618493

Orphanet

European rare disease database

Orphanet:656273

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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hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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