HIDEA
MCID: HYP859
MIFTS: 27

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

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Respiratory 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 57 6
Hidea 57 73
Hypotonia, Hyperventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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® : 57 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) (Updated 05-Mar-2021)

MalaCards based summary : Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities, also known as hidea, is related to alacrima, achalasia, and mental retardation syndrome and dysautonomia. 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 temporal lobe, 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.

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 alacrima, achalasia, and mental retardation syndrome 10.1
2 dysautonomia 10.1
3 hypotonia 10.1
4 attention deficit-hyperactivity disorder 9.9
5 sleep apnea 9.9
6 epilepsy 9.9
7 central sleep apnea 9.9

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
global developmental delay
unsteady gait
inability to walk
delayed walking
more
Abdomen Gastrointestinal:
constipation

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

Skeletal Spine:
scoliosis
kyphosis

Metabolic Features:
hypothermia
hyperthermia
poor temperature regulation

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 (Updated 05-Mar-2021)

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, Temporal Lobe

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). 6 57 61
30940925 2019
2
Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome. 6 57
25078763 2014
3
Lack of P4H-TM in mice results in age-related retinal and renal alterations. 57
27466183 2016
4
Further delineation of HIDEA syndrome. 61
32965080 2020
5
Structure of transmembrane prolyl 4-hydroxylase reveals unique organization of EF and dioxygenase domains. 61
33334883 2020
6
Looking for indicative magnetic resonance imaging signs of hippocampal developmental abnormalities in patients with mesial temporal lobe epilepsy and healthy controls. 61
32697339 2020
7
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 rs182812551 3:49042479-49042479 3:49005046-49005046
2 P4HTM NM_177939.3(P4HTM):c.482A>C (p.His161Pro) SNV Pathogenic 635795 rs1576606484 3:49038916-49038916 3:49001483-49001483
3 P4HTM NM_177939.3(P4HTM):c.286dup (p.Gln96fs) Duplication Pathogenic 635796 rs1576601503 3:49027971-49027972 3:48990538-48990539
4 P4HTM NM_177939.3(P4HTM):c.1411C>T (p.Gln471Ter) SNV Pathogenic 635797 rs1576610000 3:49044242-49044242 3:49006809-49006809
5 P4HTM NM_177939.3(P4HTM):c.949del (p.Val317fs) Deletion Pathogenic 635798 rs1576608329 3:49042355-49042355 3:49004922-49004922

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,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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