HAYOS
MCID: HRL006
MIFTS: 24

Harel-Yoon Syndrome (HAYOS)

Categories: 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 56 58 73 29 6
Hayos 56 73
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome 58
Syndrome, Harel-Yoon 39

Characteristics:

OMIM:

56
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

OMIM : 56 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)

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

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 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
10 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
11 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
12 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
13 pectus carinatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000768
14 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
15 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
16 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
17 delayed puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000823
18 hypertrophic cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001639
19 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
20 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
21 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
22 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
23 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
24 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
25 long face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000276
26 deeply set eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0000490
27 high forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000348
28 gait ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002066
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 delayed speech and language development 31 HP:0000750
38 seizures 58 Very rare (<4-1%)
39 ataxia 31 HP:0001251
40 frontal bossing 31 HP:0002007
41 abnormality of the foot 31 HP:0001760
42 distal amyotrophy 31 HP:0003693
43 generalized hypotonia 31 HP:0001290
44 inability to walk 31 HP:0002540
45 generalized non-motor (absence) seizure 31 HP:0002121

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
inability to walk
speech delay
delayed psychomotor development
axial hypotonia
more
Skeletal Spine:
scoliosis

Head And Neck Eyes:
optic atrophy
nystagmus
myopia
esotropia
deep-set eyes
more
Head And Neck Face:
frontal bossing
micrognathia
prognathia (family a)
long face (family a)

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

Skeletal Feet:
foot deformities

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

Skeletal Pelvis:
hip dysplasia

Chest External Features:
pectus carinatum

Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Head:
high forehead

Head And Neck Nose:
small nose

Neurologic Peripheral Nervous System:
axonal neuropathy

Cardiovascular Heart:
hypertrophic cardiomyopathy (in some patients)

Clinical features from OMIM:

617183

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. 6 56
27640307 2016

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.1582C>T (p.Arg528Trp)SNV Pathogenic/Likely pathogenic 225696 rs1057517686 1:1464679-1464679 1:1529299-1529299
2 ATAD3A NM_001170535.3(ATAD3A):c.283-60deldeletion Likely pathogenic 592109 rs1557458134 1:1452631-1452631 1:1517251-1517251
3 ATAD3A NM_001170535.3(ATAD3A):c.158C>T (p.Thr53Ile)SNV Conflicting interpretations of pathogenicity 225697 rs1057517687 1:1447806-1447806 1:1512426-1512426
4 ATAD3A NM_001170535.3(ATAD3A):c.400G>A (p.Asp134Asn)SNV Uncertain significance 915434 1:1453111-1453111 1:1517731-1517731
5 ATAD3A NM_001170535.3(ATAD3A):c.1693C>T (p.His565Tyr)SNV Uncertain significance 522903 rs200344678 1:1469384-1469384 1:1534004-1534004
6 ATAD3A NM_001170535.3(ATAD3A):c.817C>A (p.Arg273Ser)SNV Uncertain significance 587626 rs574343682 1:1458190-1458190 1:1522810-1522810

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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