HAYOS
MCID: HRL006
MIFTS: 26

Harel-Yoon Syndrome (HAYOS)

Categories: Cardiovascular diseases, Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Harel-Yoon Syndrome

MalaCards integrated aliases for Harel-Yoon Syndrome:

Name: Harel-Yoon Syndrome 57 58 73 36 29 6
Hayos 57 73
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome 58
Syndrome, Harel-Yoon 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
autosomal recessive (one family)

Miscellaneous:
onset in infancy
five unrelated patients with de novo heterozygous mutations have been reported
two sibs (family a) with a homozygous mutation have been reported (last curated november 2016)


HPO:

31
harel-yoon syndrome:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


Summaries for Harel-Yoon Syndrome

KEGG : 36 Harel-Yoon syndrome (HAYOS) is a neurological syndrome characterized by global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. It has been reported that HAYOS is caused by mutations in ATAD3A, encoding a mitochondrial membrane protein. ATAD3A is implicated in mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism.

MalaCards based summary : Harel-Yoon Syndrome, is also known as hayos. An important gene associated with Harel-Yoon Syndrome is ATAD3A (ATPase Family AAA Domain Containing 3A). Affiliated tissues include eye, and related phenotypes are intellectual disability and global developmental delay

OMIM® : 57 Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016). (617183) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Harel-Yoon syndrome: A syndrome characterized by global developmental delay, hypotonia, intellectual disability, and axonal neuropathy. Some patients have optic atrophy and hypertrophic cardiomyopathy. HAYOS inheritance can be autosomal dominant or autosomal recessive.

Related Diseases for Harel-Yoon Syndrome

Symptoms & Phenotypes for Harel-Yoon Syndrome

Human phenotypes related to Harel-Yoon Syndrome:

58 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 muscular hypotonia of the trunk 58 31 hallmark (90%) Very frequent (99-80%) HP:0008936
4 increased serum lactate 58 31 frequent (33%) Frequent (79-30%) HP:0002151
5 spastic gait 58 31 frequent (33%) Frequent (79-30%) HP:0002064
6 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
7 peripheral axonal neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0003477
8 lower limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0007210
9 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
10 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
11 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
12 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
13 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
14 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
15 pectus carinatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000768
16 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
17 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
18 delayed puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000823
19 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
20 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
21 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
22 hypertrophic cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001639
23 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
24 long face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000276
25 deeply set eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0000490
26 high forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000348
27 gait ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002066
28 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
29 cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001272
30 optic nerve hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000609
31 esotropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000565
32 3-methylglutaconic aciduria 58 31 occasional (7.5%) Occasional (29-5%) HP:0003535
33 positional foot deformity 58 31 occasional (7.5%) Occasional (29-5%) HP:0005656
34 corneal opacity 58 31 very rare (1%) Very rare (<4-1%) HP:0007957
35 seizure 31 very rare (1%) HP:0001250
36 spasticity 58 31 Frequent (79-30%) HP:0001257
37 seizures 58 Very rare (<4-1%)
38 frontal bossing 31 HP:0002007
39 ataxia 31 HP:0001251
40 delayed speech and language development 31 HP:0000750
41 generalized hypotonia 31 HP:0001290
42 distal amyotrophy 31 HP:0003693
43 inability to walk 31 HP:0002540
44 abnormal foot morphology 31 HP:0001760
45 generalized non-motor (absence) seizure 31 HP:0002121

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
intellectual disability
inability to walk
speech delay
delayed psychomotor development
axial hypotonia
more
Skeletal Spine:
scoliosis

Skeletal Pelvis:
hip dysplasia

Head And Neck Head:
high forehead

Muscle Soft Tissue:
hypotonia
distal limb muscle atrophy
mitochondrial respiratory enzymes deficiencies

Skeletal Feet:
foot deformities

Cardiovascular Heart:
hypertrophic cardiomyopathy (in some patients)

Head And Neck Face:
frontal bossing
micrognathia
prognathia (family a)
long face (family a)

Head And Neck Eyes:
nystagmus
optic atrophy
myopia
esotropia
deep-set eyes
more
Chest External Features:
pectus carinatum

Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Nose:
small nose

Neurologic Peripheral Nervous System:
axonal neuropathy

Laboratory Abnormalities:
increased lactate
methylglutaconic aciduria (in some patients)

Clinical features from OMIM®:

617183 (Updated 05-Mar-2021)

Drugs & Therapeutics for Harel-Yoon Syndrome

Search Clinical Trials , NIH Clinical Center for Harel-Yoon Syndrome

Genetic Tests for Harel-Yoon Syndrome

Genetic tests related to Harel-Yoon Syndrome:

# Genetic test Affiliating Genes
1 Harel-Yoon Syndrome 29 ATAD3A

Anatomical Context for Harel-Yoon Syndrome

MalaCards organs/tissues related to Harel-Yoon Syndrome:

40
Eye

Publications for Harel-Yoon Syndrome

Articles related to Harel-Yoon Syndrome:

# Title Authors PMID Year
1
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. 57 6
27640307 2016
2
A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome. 61
32607449 2020

Variations for Harel-Yoon Syndrome

ClinVar genetic disease variations for Harel-Yoon Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATAD3A NM_001170535.3(ATAD3A):c.158C>T (p.Thr53Ile) SNV Pathogenic 225697 rs1057517687 1:1447806-1447806 1:1512426-1512426
2 ATAD3A NM_001170535.3(ATAD3A):c.1582C>T (p.Arg528Trp) SNV Pathogenic 225696 rs1057517686 1:1464679-1464679 1:1529299-1529299
3 ATAD3A GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686) copy number loss Likely pathogenic 976729 1:762080-7309686
4 ATAD3A NM_001170535.3(ATAD3A):c.964-1G>T SNV Likely pathogenic 989289 1:1459218-1459218 1:1523838-1523838
5 ATAD3A NM_001170535.3(ATAD3A):c.283-60del Deletion Likely pathogenic 592109 rs1557458134 1:1452631-1452631 1:1517251-1517251
6 ATAD3A NM_001170535.3(ATAD3A):c.400G>A (p.Asp134Asn) SNV Uncertain significance 915434 1:1453111-1453111 1:1517731-1517731
7 ATAD3A NM_001170535.3(ATAD3A):c.229C>G (p.Leu77Val) SNV Uncertain significance 432628 rs138594222 1:1451415-1451415 1:1516035-1516035
8 ATAD3A NM_001170535.3(ATAD3A):c.1693C>T (p.His565Tyr) SNV Uncertain significance 522903 rs200344678 1:1469384-1469384 1:1534004-1534004
9 ATAD3A NM_001170535.3(ATAD3A):c.817C>A (p.Arg273Ser) SNV Uncertain significance 587626 rs574343682 1:1458190-1458190 1:1522810-1522810
10 ATAD3A NM_001170535.3(ATAD3A):c.736A>G (p.Lys246Glu) SNV Uncertain significance 992574 1:1455983-1455983 1:1520603-1520603

Expression for Harel-Yoon Syndrome

Search GEO for disease gene expression data for Harel-Yoon Syndrome.

Pathways for Harel-Yoon Syndrome

GO Terms for Harel-Yoon Syndrome

Sources for Harel-Yoon Syndrome

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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