EHLMRS
MCID: EPL149
MIFTS: 28

Epilepsy, Hearing Loss, and Mental Retardation Syndrome (EHLMRS)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Hearing Loss, and Mental Retardation Syndrome

MalaCards integrated aliases for Epilepsy, Hearing Loss, and Mental Retardation Syndrome:

Name: Epilepsy, Hearing Loss, and Mental Retardation Syndrome 57 74 29 6 40 17
Ehlmrs 57 74
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome 59
Microcephaly-Intellectual Disability-Sensorineural Deafness-Epilepsy-Abnormal Muscle Tone Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
variable onset of seizures from neonatal to first year of life


HPO:

32
epilepsy, hearing loss, and mental retardation syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616577
Orphanet 59 ORPHA457351

Summaries for Epilepsy, Hearing Loss, and Mental Retardation Syndrome

OMIM : 57 Epilepsy, hearing loss, and mental retardation syndrome is an autosomal recessive disorder characterized by severe neurologic impairment including intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss. Most affected individuals are nonambulatory, cannot sit unassisted, and have no speech development. More variable features include feeding difficulties, poor growth, cortical visual impairment, spasticity, scoliosis, immunodeficiency, and thrombocytopenia (summary by Tanaka et al., 2015). (616577)

MalaCards based summary : Epilepsy, Hearing Loss, and Mental Retardation Syndrome, is also known as ehlmrs. An important gene associated with Epilepsy, Hearing Loss, and Mental Retardation Syndrome is SPATA5 (Spermatogenesis Associated 5). Affiliated tissues include eye, and related phenotypes are nystagmus and failure to thrive

UniProtKB/Swiss-Prot : 74 Epilepsy, hearing loss, and mental retardation syndrome: An autosomal recessive disorder characterized by intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss.

Related Diseases for Epilepsy, Hearing Loss, and Mental Retardation Syndrome

Symptoms & Phenotypes for Epilepsy, Hearing Loss, and Mental Retardation Syndrome

Human phenotypes related to Epilepsy, Hearing Loss, and Mental Retardation Syndrome:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 occasional (7.5%) HP:0000639
2 failure to thrive 32 occasional (7.5%) HP:0001508
3 scoliosis 32 occasional (7.5%) HP:0002650
4 immunodeficiency 32 occasional (7.5%) HP:0002721
5 strabismus 32 occasional (7.5%) HP:0000486
6 thrombocytopenia 32 occasional (7.5%) HP:0001873
7 hypoplasia of the corpus callosum 32 occasional (7.5%) HP:0002079
8 cns hypomyelination 32 occasional (7.5%) HP:0003429
9 cerebral visual impairment 32 occasional (7.5%) HP:0100704
10 seizures 32 HP:0001250
11 spasticity 32 HP:0001257
12 eeg abnormality 32 HP:0002353
13 global developmental delay 32 HP:0001263
14 microcephaly 32 HP:0000252
15 sensorineural hearing impairment 32 HP:0000407
16 intellectual disability, severe 32 HP:0010864
17 feeding difficulties 32 HP:0011968
18 absent speech 32 HP:0001344
19 muscular hypotonia of the trunk 32 HP:0008936
20 limb hypertonia 32 HP:0002509

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
spasticity
mental retardation, severe
eeg abnormalities
delayed development
more
Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Ears:
sensorineural hearing loss

Hematology:
thrombocytopenia (in some patients)

Growth Other:
failure to thrive (in some patients)

Head And Neck Head:
microcephaly

Muscle Soft Tissue:
limb hypertonia
axial hypotonia

Head And Neck Eyes:
nystagmus (in some patients)
strabismus (in some patients)
impaired vision
cortical visual impairment (in some patients)

Skeletal Spine:
scoliosis (in some patients)

Immunology:
immune deficiency (in some patients)

Clinical features from OMIM:

616577

Drugs & Therapeutics for Epilepsy, Hearing Loss, and Mental Retardation Syndrome

Search Clinical Trials , NIH Clinical Center for Epilepsy, Hearing Loss, and Mental Retardation Syndrome

Genetic Tests for Epilepsy, Hearing Loss, and Mental Retardation Syndrome

Genetic tests related to Epilepsy, Hearing Loss, and Mental Retardation Syndrome:

# Genetic test Affiliating Genes
1 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 29 SPATA5

Anatomical Context for Epilepsy, Hearing Loss, and Mental Retardation Syndrome

MalaCards organs/tissues related to Epilepsy, Hearing Loss, and Mental Retardation Syndrome:

41
Eye

Publications for Epilepsy, Hearing Loss, and Mental Retardation Syndrome

Articles related to Epilepsy, Hearing Loss, and Mental Retardation Syndrome:

# Title Authors PMID Year
1
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. 8 71
26299366 2015
2
Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression. 38
28293831 2017

Variations for Epilepsy, Hearing Loss, and Mental Retardation Syndrome

ClinVar genetic disease variations for Epilepsy, Hearing Loss, and Mental Retardation Syndrome:

6 (show top 50) (show all 105)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SPATA5 NM_145207.3(SPATA5): c.394C> T (p.Gln132Ter) single nucleotide variant Pathogenic rs1220351376 4:123850300-123850300 4:122929145-122929145
2 SPATA5 NM_145207.3(SPATA5): c.700C> T (p.Gln234Ter) single nucleotide variant Pathogenic rs775269863 4:123855446-123855446 4:122934291-122934291
3 SPATA5 NM_145207.3(SPATA5): c.661C> T (p.Gln221Ter) single nucleotide variant Pathogenic rs1553955672 4:123855407-123855407 4:122934252-122934252
4 SPATA5 NC_000004.11: g.(?_123977522)_(123978463_?)del deletion Pathogenic 4:123977522-123978463 4:123056367-123057308
5 SPATA5 NM_145207.3(SPATA5): c.298G> A (p.Ala100Thr) single nucleotide variant Pathogenic rs796051895 4:123850204-123850204 4:122929049-122929049
6 SPATA5 NM_145207.3(SPATA5): c.1343C> T (p.Ser448Leu) single nucleotide variant Pathogenic rs766034355 4:123859289-123859289 4:122938134-122938134
7 SPATA5 NM_145207.3(SPATA5): c.1574_1578del (p.Asn525fs) deletion Pathogenic rs796051891 4:123868503-123868507 4:122947348-122947352
8 SPATA5 NC_000004.11: g.(?_123977542)_(123978443_?)del deletion Pathogenic 4:123977542-123978443 4:123056387-123057288
9 SPATA5 NM_145207.3(SPATA5): c.556C> T (p.Arg186Ter) single nucleotide variant Pathogenic rs796052095 4:123855302-123855302 4:122934147-122934147
10 SPATA5 NM_145207.3(SPATA5): c.1714+1G> A single nucleotide variant Pathogenic 4:123868644-123868644 4:122947489-122947489
11 SPATA5 NM_145207.3(SPATA5): c.1039_1040dup (p.Gln347fs) duplication Pathogenic 4:123855784-123855785 4:122934630-122934631
12 SPATA5 NM_145207.3(SPATA5): c.2409_2410del (p.Glu804fs) deletion Pathogenic 4:124177239-124177240 4:123256084-123256085
13 SPATA5 NM_145207.3(SPATA5): c.1820del (p.Asn607fs) deletion Pathogenic 4:123900492-123900492 4:122979337-122979337
14 SPATA5 NM_145207.3(SPATA5): c.983_985CAA[2] (p.Thr330del) short repeat Pathogenic/Likely pathogenic rs796052243 4:123855735-123855737 4:122934580-122934582
15 SPATA5 NM_145207.3(SPATA5): c.251G> A (p.Arg84Gln) single nucleotide variant Pathogenic/Likely pathogenic rs745858366 4:123848876-123848876 4:122927721-122927721
16 SPATA5 NM_145207.3(SPATA5): c.1715-1G> C single nucleotide variant Likely pathogenic 4:123900386-123900386 4:122979231-122979231
17 SPATA5 duplication Likely pathogenic 4:123847735-123851679 :0-0
18 SPATA5 NM_145207.3(SPATA5): c.2384C> G (p.Pro795Arg) single nucleotide variant Likely pathogenic rs1553934697 4:124177214-124177214 4:123256059-123256059
19 SPATA5 NM_001317799.1(SPATA5): c.2077dup (p.Val693Glyfs) duplication Likely pathogenic 4:123949551-123949551 4:123028396-123028396
20 SPATA5 NM_145207.3(SPATA5): c.766A> G (p.Ile256Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143384152 4:123855512-123855512 4:122934357-122934357
21 SPATA5 NM_145207.3(SPATA5): c.2081G> A (p.Gly694Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs141576468 4:123977543-123977543 4:123056388-123056388
22 SPATA5 NM_145207.3(SPATA5): c.1877G> C (p.Trp626Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs375343753 4:123949348-123949348 4:123028193-123028193
23 SPATA5 NM_145207.3(SPATA5): c.1A> C (p.Met1Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs552219028 4:123844298-123844298 4:122923143-122923143
24 SPATA5 NM_145207.3(SPATA5): c.1159C> T (p.Pro387Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs201751275 4:123856880-123856880 4:122935725-122935725
25 SPATA5 NM_145207.3(SPATA5): c.1964G> A (p.Arg655Gln) single nucleotide variant Uncertain significance rs147873489 4:123949435-123949435 4:123028280-123028280
26 SPATA5 NM_145207.3(SPATA5): c.2531C> T (p.Ala844Val) single nucleotide variant Uncertain significance rs796051892 4:124235068-124235068 4:123313913-123313913
27 SPATA5 NM_145207.3(SPATA5): c.2074A> G (p.Ile692Val) single nucleotide variant Uncertain significance rs370427695 4:123949545-123949545 4:123028390-123028390
28 SPATA5 NM_145207.3(SPATA5): c.2134-4C> G single nucleotide variant Uncertain significance rs375025031 4:123978360-123978360 4:123057205-123057205
29 SPATA5 NM_145207.3(SPATA5): c.2635C> T (p.Arg879Cys) single nucleotide variant Uncertain significance rs28716389 4:124235172-124235172 4:123314017-123314017
30 SPATA5 NM_145207.3(SPATA5): c.830A> T (p.Asp277Val) single nucleotide variant Uncertain significance rs150370442 4:123855576-123855576 4:122934421-122934421
31 SPATA5 NM_145207.3(SPATA5): c.1133T> G (p.Leu378Arg) single nucleotide variant Uncertain significance rs1553955916 4:123855879-123855879 4:122934724-122934724
32 SPATA5 NM_145207.3(SPATA5): c.2000A> G (p.Tyr667Cys) single nucleotide variant Uncertain significance rs998357703 4:123949471-123949471 4:123028316-123028316
33 SPATA5 NM_145207.3(SPATA5): c.2456T> C (p.Val819Ala) single nucleotide variant Uncertain significance rs149604630 4:124177286-124177286 4:123256131-123256131
34 SPATA5 NM_145207.3(SPATA5): c.2214-5A> G single nucleotide variant Uncertain significance 4:124011729-124011729 4:123090574-123090574
35 SPATA5 NM_145207.3(SPATA5): c.1A> G (p.Met1Val) single nucleotide variant Uncertain significance 4:123844298-123844298 4:122923143-122923143
36 SPATA5 NM_145207.3(SPATA5): c.1A> T (p.Met1Leu) single nucleotide variant Uncertain significance 4:123844298-123844298 4:122923143-122923143
37 SPATA5 NM_145207.3(SPATA5): c.133A> G (p.Thr45Ala) single nucleotide variant Uncertain significance 4:123844430-123844430 4:122923275-122923275
38 SPATA5 NM_145207.3(SPATA5): c.223A> G (p.Met75Val) single nucleotide variant Uncertain significance 4:123848848-123848848 4:122927693-122927693
39 SPATA5 NM_145207.3(SPATA5): c.229T> G (p.Ser77Ala) single nucleotide variant Uncertain significance 4:123848854-123848854 4:122927699-122927699
40 SPATA5 NM_145207.3(SPATA5): c.410C> T (p.Ala137Val) single nucleotide variant Uncertain significance 4:123850316-123850316 4:122929161-122929161
41 SPATA5 NM_145207.3(SPATA5): c.416T> A (p.Leu139Gln) single nucleotide variant Uncertain significance 4:123850322-123850322 4:122929167-122929167
42 SPATA5 NM_145207.3(SPATA5): c.560C> T (p.Pro187Leu) single nucleotide variant Uncertain significance 4:123855306-123855306 4:122934151-122934151
43 SPATA5 NM_145207.3(SPATA5): c.649A> G (p.Met217Val) single nucleotide variant Uncertain significance 4:123855395-123855395 4:122934240-122934240
44 SPATA5 NM_145207.3(SPATA5): c.665C> T (p.Ser222Phe) single nucleotide variant Uncertain significance 4:123855411-123855411 4:122934256-122934256
45 SPATA5 NM_145207.3(SPATA5): c.700C> A (p.Gln234Lys) single nucleotide variant Uncertain significance 4:123855446-123855446 4:122934291-122934291
46 SPATA5 NM_145207.3(SPATA5): c.889A> G (p.Arg297Gly) single nucleotide variant Uncertain significance 4:123855635-123855635 4:122934480-122934480
47 SPATA5 NM_145207.3(SPATA5): c.998A> G (p.Asn333Ser) single nucleotide variant Uncertain significance 4:123855744-123855744 4:122934589-122934589
48 SPATA5 NM_145207.3(SPATA5): c.637G> A (p.Asp213Asn) single nucleotide variant Uncertain significance 4:123855383-123855383 4:122934228-122934228
49 SPATA5 NM_145207.3(SPATA5): c.1151T> C (p.Ile384Thr) single nucleotide variant Uncertain significance 4:123856872-123856872 4:122935717-122935717
50 SPATA5 NM_145207.3(SPATA5): c.1664G> C (p.Ser555Thr) single nucleotide variant Uncertain significance 4:123868593-123868593 4:122947438-122947438

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Hearing Loss, and Mental Retardation Syndrome:

74
# Symbol AA change Variation ID SNP ID
1 SPATA5 p.Arg84Gln VAR_075775 rs745858366
2 SPATA5 p.Ser90Ile VAR_075776 rs796051893
3 SPATA5 p.Ala100Thr VAR_075777 rs796051895
4 SPATA5 p.Ser448Leu VAR_075779 rs766034355
5 SPATA5 p.Val488Leu VAR_075780
6 SPATA5 p.Arg529Gln VAR_075781 rs567175477
7 SPATA5 p.Trp626Cys VAR_075782 rs796052222
8 SPATA5 p.Asp628Gly VAR_075783 rs768528444
9 SPATA5 p.Arg784Gln VAR_075784 rs796051894
10 SPATA5 p.Ala844Val VAR_075785 rs796051892

Expression for Epilepsy, Hearing Loss, and Mental Retardation Syndrome

Search GEO for disease gene expression data for Epilepsy, Hearing Loss, and Mental Retardation Syndrome.

Pathways for Epilepsy, Hearing Loss, and Mental Retardation Syndrome

GO Terms for Epilepsy, Hearing Loss, and Mental Retardation Syndrome

Cellular components related to Epilepsy, Hearing Loss, and Mental Retardation Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.62 SPATA5 NUDT6

Sources for Epilepsy, Hearing Loss, and Mental Retardation 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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