HAYOS
MCID: HRL006
MIFTS: 22

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 dominant inheritance autosomal recessive 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 intellectual disability and global developmental delay

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 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
3 muscular hypotonia of the trunk 60 33 hallmark (90%) Very frequent (99-80%) HP:0008936
4 increased serum lactate 60 33 frequent (33%) Frequent (79-30%) HP:0002151
5 spastic gait 60 33 frequent (33%) Frequent (79-30%) HP:0002064
6 peripheral axonal neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0003477
7 lower limb amyotrophy 60 33 frequent (33%) Frequent (79-30%) HP:0007210
8 poor speech 60 33 frequent (33%) Frequent (79-30%) HP:0002465
9 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
10 sleep disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0002360
11 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
12 mandibular prognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000303
13 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
14 hip dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001385
15 pectus carinatum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000768
16 short nose 60 33 occasional (7.5%) Occasional (29-5%) HP:0003196
17 optic atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000648
18 delayed puberty 60 33 occasional (7.5%) Occasional (29-5%) HP:0000823
19 hypertrophic cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001639
20 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
21 feeding difficulties 60 33 occasional (7.5%) Occasional (29-5%) HP:0011968
22 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
23 myopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000545
24 gait ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002066
25 optic nerve hypoplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000609
26 deeply set eye 60 33 occasional (7.5%) Occasional (29-5%) HP:0000490
27 upslanted palpebral fissure 60 33 occasional (7.5%) Occasional (29-5%) HP:0000582
28 long face 60 33 occasional (7.5%) Occasional (29-5%) HP:0000276
29 high forehead 60 33 occasional (7.5%) Occasional (29-5%) HP:0000348
30 cerebellar atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001272
31 positional foot deformity 60 33 occasional (7.5%) Occasional (29-5%) HP:0005656
32 esotropia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000565
33 3-methylglutaconic aciduria 60 33 occasional (7.5%) Occasional (29-5%) HP:0003535
34 seizures 60 33 very rare (1%) Very rare (<4-1%) HP:0001250
35 corneal opacity 60 33 very rare (1%) Very rare (<4-1%) HP:0007957
36 spasticity 60 33 Frequent (79-30%) HP:0001257
37 frontal bossing 33 HP:0002007
38 ataxia 33 HP:0001251
39 delayed speech and language development 33 HP:0000750
40 abnormality of the foot 33 HP:0001760
41 inability to walk 33 HP:0002540
42 absence seizure 33 HP:0002121
43 generalized hypotonia 33 HP:0001290
44 distal amyotrophy 33 HP:0003693

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

Articles related to Harel-Yoon Syndrome:

# Title Authors Year
1
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. ( 27640307 )
2016

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
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31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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37 IUPHAR
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45 MeSH
46 MESH via Orphanet
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50 NCI
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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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