HAYOS
MCID: HRL006
MIFTS: 21

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 58 60 76 6
Hayos 58 76
Optic Atrophy-Peripheral Neuropathy-Developmental Delay Syndrome 60

Characteristics:

OMIM:

58
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:

33
harel-yoon syndrome:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Harel-Yoon Syndrome

OMIM : 58 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 hypertrophic cardiomyopathy and nystagmus

UniProtKB/Swiss-Prot : 76 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:

60 33 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001639
2 nystagmus 60 33 Occasional (29-5%) HP:0000639
3 intellectual disability 60 33 Very frequent (99-80%) HP:0001249
4 spasticity 60 33 Frequent (79-30%) HP:0001257
5 scoliosis 60 33 Occasional (29-5%) HP:0002650
6 mandibular prognathia 60 33 Occasional (29-5%) HP:0000303
7 global developmental delay 60 33 Very frequent (99-80%) HP:0001263
8 hip dysplasia 60 33 Occasional (29-5%) HP:0001385
9 short nose 60 33 Occasional (29-5%) HP:0003196
10 optic atrophy 60 33 Occasional (29-5%) HP:0000648
11 micrognathia 60 33 Occasional (29-5%) HP:0000347
12 feeding difficulties 60 33 Occasional (29-5%) HP:0011968
13 myopia 60 33 Occasional (29-5%) HP:0000545
14 deeply set eye 60 33 Occasional (29-5%) HP:0000490
15 upslanted palpebral fissure 60 33 Occasional (29-5%) HP:0000582
16 long face 60 33 Occasional (29-5%) HP:0000276
17 high forehead 60 33 Occasional (29-5%) HP:0000348
18 cerebellar atrophy 60 33 Occasional (29-5%) HP:0001272
19 peripheral axonal neuropathy 60 33 Frequent (79-30%) HP:0003477
20 esotropia 60 33 Occasional (29-5%) HP:0000565
21 muscular hypotonia of the trunk 60 33 Very frequent (99-80%) HP:0008936
22 frontal bossing 33 HP:0002007
23 seizures 60 Very rare (<4-1%)
24 ataxia 33 HP:0001251
25 sleep disturbance 60 Occasional (29-5%)
26 cataract 60 Occasional (29-5%)
27 corneal opacity 60 Very rare (<4-1%)
28 delayed speech and language development 33 HP:0000750
29 pectus carinatum 60 Occasional (29-5%)
30 delayed puberty 60 Occasional (29-5%)
31 cryptorchidism 60 Occasional (29-5%)
32 gait ataxia 60 Occasional (29-5%)
33 abnormality of the foot 33 HP:0001760
34 inability to walk 33 HP:0002540
35 increased serum lactate 60 Frequent (79-30%)
36 optic nerve hypoplasia 60 Occasional (29-5%)
37 generalized hypotonia 33 HP:0001290
38 spastic gait 60 Frequent (79-30%)
39 positional foot deformity 60 Occasional (29-5%)
40 lower limb amyotrophy 60 Frequent (79-30%)
41 distal amyotrophy 33 HP:0003693
42 poor speech 60 Frequent (79-30%)
43 3-methylglutaconic aciduria 60 Occasional (29-5%)
44 absence seizure 33 HP:0002121

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Face:
frontal bossing
micrognathia
prognathia (family a)
long face (family a)

Neurologic Central Nervous System:
intellectual disability
inability to walk
delayed psychomotor development
speech delay
axial hypotonia
more
Skeletal Pelvis:
hip dysplasia

Abdomen Gastrointestinal:
feeding difficulties

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)

Head And Neck Eyes:
nystagmus
optic atrophy
myopia
esotropia
deep-set eyes
more
Skeletal Spine:
scoliosis

Chest External Features:
pectus carinatum

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

Anatomical Context for Harel-Yoon Syndrome

MalaCards organs/tissues related to Harel-Yoon Syndrome:

42
Eye

Publications for Harel-Yoon Syndrome

Variations for Harel-Yoon Syndrome

ClinVar genetic disease variations for Harel-Yoon Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATAD3A NM_001170535.2(ATAD3A): c.1582C> T (p.Arg528Trp) single nucleotide variant Likely pathogenic rs1057517686 GRCh38 Chromosome 1, 1529299: 1529299
2 ATAD3A NM_001170535.2(ATAD3A): c.1582C> T (p.Arg528Trp) single nucleotide variant Likely pathogenic rs1057517686 GRCh37 Chromosome 1, 1464679: 1464679
3 ATAD3A NM_001170535.2(ATAD3A): c.158C> T (p.Thr53Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs1057517687 GRCh38 Chromosome 1, 1512426: 1512426
4 ATAD3A NM_001170535.2(ATAD3A): c.158C> T (p.Thr53Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs1057517687 GRCh37 Chromosome 1, 1447806: 1447806
5 ATAD3A NM_018188.4(ATAD3A): c.1837C> T (p.His613Tyr) single nucleotide variant Pathogenic rs200344678 GRCh37 Chromosome 1, 1469384: 1469384
6 ATAD3A NM_018188.4(ATAD3A): c.1837C> T (p.His613Tyr) single nucleotide variant Pathogenic rs200344678 GRCh38 Chromosome 1, 1534004: 1534004
7 ATAD3A NM_018188.4(ATAD3A): c.961C> A (p.Arg321Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 1522810: 1522810
8 ATAD3A NM_018188.4(ATAD3A): c.961C> A (p.Arg321Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 1458190: 1458190
9 ATAD3A NM_018188.4(ATAD3A): c.367del (p.Arg123Glyfs) deletion Likely pathogenic GRCh37 Chromosome 1, 1452631: 1452631
10 ATAD3A NM_018188.4(ATAD3A): c.367del (p.Arg123Glyfs) deletion Likely pathogenic GRCh38 Chromosome 1, 1517251: 1517251

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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