Details of Disease

General Information of Disease (ID: DIS7252W)

Disease Name Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
Synonyms HIDEA; HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES
Disease Hierarchy
DISYKSRF: Genetic disease
DIS7252W: Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
Disease Identifiers
MONDO ID
MONDO_0032780
UMLS CUI
C5193124
OMIM ID
618493
MedGen ID
1672905

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
P4HTM OTKELL7F Definitive Autosomal recessive [1]
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References

1 HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein. Clin Genet. 2022 Nov;102(5):444-450. doi: 10.1111/cge.14203. Epub 2022 Aug 19.