MCID: HRL006
MIFTS: 20

Harel-Yoon Syndrome

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

Aliases & Classifications for Harel-Yoon Syndrome

MalaCards integrated aliases for Harel-Yoon Syndrome:

Name: Harel-Yoon Syndrome 57 59 75 6
Hayos 57 75
Optic Atrophy-Peripheral 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:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



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 long face and mandibular prognathia

UniProtKB/Swiss-Prot : 75 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

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

Human phenotypes related to Harel-Yoon Syndrome:

32 (show all 28)
# Description HPO Frequency HPO Source Accession
1 long face 32 HP:0000276
2 mandibular prognathia 32 HP:0000303
3 micrognathia 32 HP:0000347
4 high forehead 32 HP:0000348
5 deeply set eye 32 HP:0000490
6 myopia 32 HP:0000545
7 esotropia 32 HP:0000565
8 upslanted palpebral fissure 32 HP:0000582
9 nystagmus 32 HP:0000639
10 optic atrophy 32 HP:0000648
11 delayed speech and language development 32 HP:0000750
12 intellectual disability 32 HP:0001249
13 ataxia 32 HP:0001251
14 global developmental delay 32 HP:0001263
15 cerebellar atrophy 32 HP:0001272
16 generalized hypotonia 32 HP:0001290
17 hip dysplasia 32 HP:0001385
18 hypertrophic cardiomyopathy 32 occasional (7.5%) HP:0001639
19 abnormality of the foot 32 HP:0001760
20 frontal bossing 32 HP:0002007
21 absence seizures 32 HP:0002121
22 inability to walk 32 HP:0002540
23 scoliosis 32 HP:0002650
24 short nose 32 HP:0003196
25 peripheral axonal neuropathy 32 HP:0003477
26 distal amyotrophy 32 HP:0003693
27 muscular hypotonia of the trunk 32 HP:0008936
28 feeding difficulties 32 HP:0011968

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

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 Uncertain significance rs1057517687 GRCh38 Chromosome 1, 1512426: 1512426
4 ATAD3A NM_001170535.2(ATAD3A): c.158C> T (p.Thr53Ile) single nucleotide variant Uncertain significance 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

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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