HAYOS
MCID: HRL006
MIFTS: 20

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 57 59 74 6
Hayos 57 74
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome 59

Characteristics:

OMIM:

57
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:

32
harel-yoon syndrome:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 57 617183
MeSH 44 D065886
Orphanet 59 ORPHA496790

Summaries for Harel-Yoon Syndrome

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)

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 : 74 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:

59 32 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001639
2 nystagmus 59 32 Occasional (29-5%) HP:0000639
3 intellectual disability 59 32 Very frequent (99-80%) HP:0001249
4 spasticity 59 32 Frequent (79-30%) HP:0001257
5 scoliosis 59 32 Occasional (29-5%) HP:0002650
6 mandibular prognathia 59 32 Occasional (29-5%) HP:0000303
7 global developmental delay 59 32 Very frequent (99-80%) HP:0001263
8 hip dysplasia 59 32 Occasional (29-5%) HP:0001385
9 pectus carinatum 59 32 Occasional (29-5%) HP:0000768
10 short nose 59 32 Occasional (29-5%) HP:0003196
11 optic atrophy 59 32 Occasional (29-5%) HP:0000648
12 micrognathia 59 32 Occasional (29-5%) HP:0000347
13 feeding difficulties 59 32 Occasional (29-5%) HP:0011968
14 myopia 59 32 Occasional (29-5%) HP:0000545
15 deeply set eye 59 32 Occasional (29-5%) HP:0000490
16 upslanted palpebral fissure 59 32 Occasional (29-5%) HP:0000582
17 long face 59 32 Occasional (29-5%) HP:0000276
18 high forehead 59 32 Occasional (29-5%) HP:0000348
19 cerebellar atrophy 59 32 Occasional (29-5%) HP:0001272
20 peripheral axonal neuropathy 59 32 Frequent (79-30%) HP:0003477
21 esotropia 59 32 Occasional (29-5%) HP:0000565
22 muscular hypotonia of the trunk 59 32 Very frequent (99-80%) HP:0008936
23 frontal bossing 32 HP:0002007
24 seizures 59 Very rare (<4-1%)
25 ataxia 32 HP:0001251
26 sleep disturbance 59 Occasional (29-5%)
27 cataract 59 Occasional (29-5%)
28 corneal opacity 59 Very rare (<4-1%)
29 delayed speech and language development 32 HP:0000750
30 delayed puberty 59 Occasional (29-5%)
31 generalized hypotonia 32 HP:0001290
32 cryptorchidism 59 Occasional (29-5%)
33 gait ataxia 59 Occasional (29-5%)
34 abnormality of the foot 32 HP:0001760
35 inability to walk 32 HP:0002540
36 increased serum lactate 59 Frequent (79-30%)
37 optic nerve hypoplasia 59 Occasional (29-5%)
38 absence seizure 32 HP:0002121
39 distal amyotrophy 32 HP:0003693
40 spastic gait 59 Frequent (79-30%)
41 positional foot deformity 59 Occasional (29-5%)
42 lower limb amyotrophy 59 Frequent (79-30%)
43 poor speech 59 Frequent (79-30%)
44 3-methylglutaconic aciduria 59 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

57
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:

41
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. 8 71
27640307 2016

Variations for Harel-Yoon Syndrome

ClinVar genetic disease variations for Harel-Yoon Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ATAD3A NM_018188.5(ATAD3A): c.1837C> T (p.His613Tyr) single nucleotide variant Pathogenic rs200344678 1:1469384-1469384 1:1534004-1534004
2 ATAD3A NM_018188.5(ATAD3A): c.1726C> T (p.Arg576Trp) single nucleotide variant Likely pathogenic rs1057517686 1:1464679-1464679 1:1529299-1529299
3 ATAD3A NM_018188.5(ATAD3A): c.367del (p.Arg123fs) deletion Likely pathogenic 1:1452631-1452631 1:1517251-1517251
4 ATAD3A NM_018188.5(ATAD3A): c.158C> T (p.Thr53Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs1057517687 1:1447806-1447806 1:1512426-1512426
5 ATAD3A NM_018188.5(ATAD3A): c.961C> A (p.Arg321Ser) single nucleotide variant Uncertain significance 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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