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developmental and epileptic encephalopathy 105 with hypopituitarism - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and epileptic encephalopathy 105 with hypopituitarism

MONDO:0031028

Also known as:DEE105

Overview

A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has material basis in homozygous or compound heterozygous mutation in the HID1 gene on chromosome 17q25.

GeneticsAutosomal recessive · HID1 (chr 17)

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: Motor delay, Absent speech, Pituitary hypothyroidism, and Synophrys; and very common findings: Bilateral tonic-clonic seizure, Anterior pituitary hypoplasia, Low muscle tone (hypotonia), and EEG with generalized slow activity and others. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Myoclonic seizure

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.

HID1 encodes HID1 domain containing (788 aa). May play an important role in the development of cancers in a broad range of tissues Highest expression in Brain Cerebellum (295.2 TPM) and Brain Cerebellar Hemisphere (270.8 TPM).

Developmental and epileptic encephalopathy 105 with hypopituitarism is associated with mutations in the HID1 gene on chromosome 17.

HID1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for HID1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 7 very common features, 9 common features.

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 2:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619983

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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developmental and epileptic encephalopathy 105 with hypopituitarism

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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