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
Hidea 56 73
Hypotonia, Hyperventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities 73

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:



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

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 obesity and coarse facial features

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.

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

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



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

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

Human phenotypes related to Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities:

31 (show all 34)
# Description HPO Frequency HPO Source Accession
1 obesity 31 very rare (1%) HP:0001513
2 coarse facial features 31 very rare (1%) HP:0000280
3 short stature 31 very rare (1%) HP:0004322
4 microcephaly 31 very rare (1%) HP:0000252
5 intellectual disability 31 HP:0001249
6 seizures 31 HP:0001250
7 constipation 31 HP:0002019
8 hypothermia 31 HP:0002045
9 eeg abnormality 31 HP:0002353
10 scoliosis 31 HP:0002650
11 kyphosis 31 HP:0002808
12 sleep apnea 31 HP:0010535
13 mandibular prognathia 31 HP:0000303
14 global developmental delay 31 HP:0001263
15 depressed nasal bridge 31 HP:0005280
16 thick vermilion border 31 HP:0012471
17 optic atrophy 31 HP:0000648
18 fever 31 HP:0001945
19 prominent forehead 31 HP:0011220
20 generalized hypotonia 31 HP:0001290
21 myopia 31 HP:0000545
22 inability to walk 31 HP:0002540
23 elbow flexion contracture 31 HP:0002987
24 amblyopia 31 HP:0000646
25 recurrent pneumonia 31 HP:0006532
26 hypoventilation 31 HP:0002791
27 astigmatism 31 HP:0000483
28 cerebral visual impairment 31 HP:0100704
29 unsteady gait 31 HP:0002317
30 exotropia 31 HP:0000577
31 hypermetropia 31 HP:0000540
32 pendular nystagmus 31 HP:0012043
33 delayed ability to walk 31 HP:0031936
34 finger joint hypermobility 31 HP:0006094

Symptoms via clinical synopsis from OMIM:

56
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, Hypoventilation, Impaired Intellectual Development,...

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

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

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

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

40
Eye

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

Articles related to Hypotonia, Hypoventilation, 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). 61 6 56
30940925 2019
2
Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome. 6 56
25078763 2014
3
Lack of P4H-TM in mice results in age-related retinal and renal alterations. 56
27466183 2016
4
The HIDEA School-Based Screening Scale for Teachers to Detect ADHD Markers in Elementary Students. 61
28693702 2017

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

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 P4HTM NM_177939.3(P4HTM):c.1073G>A (p.Arg358His)SNV Pathogenic 635794 3:49042479-49042479 3:49005046-49005046
2 P4HTM NM_177939.3(P4HTM):c.1411C>T (p.Gln471Ter)SNV Pathogenic 635797 3:49044242-49044242 3:49006809-49006809
3 P4HTM NM_177939.3(P4HTM):c.949del (p.Val317fs)deletion Pathogenic 635798 3:49042355-49042355 3:49004922-49004922
4 P4HTM NM_177939.3(P4HTM):c.482A>C (p.His161Pro)SNV Uncertain significance 635795 3:49038916-49038916 3:49001483-49001483
5 P4HTM NM_177939.3(P4HTM):c.286dup (p.Gln96fs)duplication Uncertain significance 635796 3:49027975-49027975 3:48990542-48990542

UniProtKB/Swiss-Prot genetic disease variations for Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities:

73
# Symbol AA change Variation ID SNP ID
1 P4HTM p.His161Pro VAR_082950

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

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

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

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

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

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