|
HIDEA
MCID: HYP859
MIFTS: 25
|
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities (HIDEA)
Categories:
Eye diseases, Genetic diseases, Neuronal diseases
|
|
|
|
Aliases & Classifications for Hypotonia, Hypoventilation, Impaired Intellectual Development,...
MalaCards integrated aliases for Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities:
Name: Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities
56
6
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy death due to respiratory insufficiency may occur HPO:31
hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset Classifications: |
|
OMIM :
56
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities (HIDEA) is an autosomal recessive neurodevelopmental syndrome characterized by global developmental delay, poor or absent speech, hypotonia, variable ocular movement and visual abnormalities, and respiratory difficulties, including hypoventilation, and sleep apnea. Patients may have significant breathing problems during respiratory infections that may lead to early death (summary by Rahikkala et al., 2019). (618493)
MalaCards based summary : Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities, also known as hidea, is related to attention deficit-hyperactivity disorder and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities is P4HTM (Prolyl 4-Hydroxylase, Transmembrane). Affiliated tissues include eye, and related phenotypes are coarse facial features and microcephaly UniProtKB/Swiss-Prot : 73 Hypotonia, hyperventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities: An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, poor or absent speech, hypotonia, variable ocular movement and visual abnormalities, and respiratory difficulties. Disease onset is in infancy and death due to respiratory insufficiency may occur. |
Diseases related to Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities:
|
Human phenotypes related to Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities:31 (show all 34)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618493 |
|
|
MalaCards organs/tissues related to Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities:40
Eye
|
Articles related to Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities:
|
Genes related to Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities:6
UniProtKB/Swiss-Prot genetic disease variations for Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities:73
|
|
Search
GEO
for disease gene expression data for Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities.
|
|
|
|