HIDEA
MCID: HYP844
MIFTS: 19

Hypotonia, Hyperventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities (HIDEA)

Categories: Genetic diseases

Aliases & Classifications for Hypotonia, Hyperventilation, Impaired Intellectual Development,...

MalaCards integrated aliases for Hypotonia, Hyperventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities:

Name: Hypotonia, Hyperventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities 57 6
Hidea 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
death due to respiratory insufficiency may occur


Classifications:



External Ids:

OMIM 57 618493

Summaries for Hypotonia, Hyperventilation, Impaired Intellectual Development,...

OMIM : 57 Hypotonia, hyperventilation, 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, Hyperventilation, 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, Hyperventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities is P4HTM (Prolyl 4-Hydroxylase, Transmembrane). Affiliated tissues include eye.

Related Diseases for Hypotonia, Hyperventilation, Impaired Intellectual Development,...

Diseases related to Hypotonia, Hyperventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 attention deficit-hyperactivity disorder 10.2
2 alacrima, achalasia, and mental retardation syndrome 10.2
3 sleep apnea 10.2
4 central sleep apnea 10.2
5 dysautonomia 10.2
6 hypotonia 10.2

Graphical network of the top 20 diseases related to Hypotonia, Hyperventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities:



Diseases related to Hypotonia, Hyperventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities

Symptoms & Phenotypes for Hypotonia, Hyperventilation, Impaired Intellectual Development,...

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
global developmental delay
inability to walk
unsteady gait
delayed walking
more
Metabolic Features:
hypothermia
hyperthermia
poor temperature regulation

Respiratory:
sleep apnea
hypoventilation
pneumonia, recurrent
bradypnea
bipap at night

Head And Neck Face:
prominent forehead
prominent chin
coarse facial features (in some patients)

Muscle Soft Tissue:
hypotonia

Head And Neck Mouth:
thick lips

Skeletal Limbs:
elbow contractures
knee deformities

Head And Neck Head:
small head circumference (in some patients)

Skeletal Feet:
planovalgus deformities

Neurologic Behavioral Psychiatric Manifestations:
abnormal sleep behavior

Abdomen Gastrointestinal:
constipation

Skeletal Spine:
scoliosis
kyphosis

Head And Neck Eyes:
optic atrophy
strabismus
myopia
amblyopia
astigmatism
more
Skeletal Hands:
finger joint hypermobility

Head And Neck Nose:
low nasal bridge

Growth Height:
short stature (in some patients)

Growth Weight:
obesity (in some patients)

Skeletal Pelvis:
hip flexion

Skin Nails Hair Hair:
thick coarse hair

Clinical features from OMIM:

618493

Drugs & Therapeutics for Hypotonia, Hyperventilation, Impaired Intellectual Development,...

Search Clinical Trials , NIH Clinical Center for Hypotonia, Hyperventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities

Genetic Tests for Hypotonia, Hyperventilation, Impaired Intellectual Development,...

Anatomical Context for Hypotonia, Hyperventilation, Impaired Intellectual Development,...

MalaCards organs/tissues related to Hypotonia, Hyperventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities:

41
Eye

Publications for Hypotonia, Hyperventilation, Impaired Intellectual Development,...

Articles related to Hypotonia, Hyperventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities:

# Title Authors PMID Year
1
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome). 38 8 71
30940925 2019
2
Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome. 8 71
25078763 2014
3
Lack of P4H-TM in mice results in age-related retinal and renal alterations. 8
27466183 2016
4
The HIDEA School-Based Screening Scale for Teachers to Detect ADHD Markers in Elementary Students. 38
28693702 2017

Variations for Hypotonia, Hyperventilation, Impaired Intellectual Development,...

ClinVar genetic disease variations for Hypotonia, Hyperventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 P4HTM NM_177938.2(P4HTM): c.1073G> A (p.Arg358Gln) single nucleotide variant Pathogenic 3:49042479-49042479 3:49005046-49005046
2 P4HTM NM_177938.2(P4HTM): c.482A> C (p.His161Pro) single nucleotide variant Pathogenic 3:49038916-49038916 3:49001483-49001483
3 P4HTM NM_177938.2(P4HTM): c.286dupC duplication Pathogenic 3:49027975-49027975 3:48990542-48990542
4 P4HTM NM_177938.2(P4HTM): c.1594C> T (p.Gln532Ter) single nucleotide variant Pathogenic 3:49044242-49044242 3:49006809-49006809
5 P4HTM NM_177938.2(P4HTM): c.949delG deletion Pathogenic 3:49042355-49042355 3:49004922-49004922

Expression for Hypotonia, Hyperventilation, Impaired Intellectual Development,...

Search GEO for disease gene expression data for Hypotonia, Hyperventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities.

Pathways for Hypotonia, Hyperventilation, Impaired Intellectual Development,...

GO Terms for Hypotonia, Hyperventilation, Impaired Intellectual Development,...

Sources for Hypotonia, Hyperventilation, Impaired Intellectual Development,...

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73 UMLS via Orphanet
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