MCID: EPL149
MIFTS: 24

Epilepsy, Hearing Loss, and Mental Retardation Syndrome

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Ear diseases, Fetal diseases, Rare diseases, Mental 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 75 29 6
Ehlmrs 57 75
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:



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 microcephaly and sensorineural hearing impairment

UniProtKB/Swiss-Prot : 75 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

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

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

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

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

Variations for Epilepsy, Hearing Loss, and Mental Retardation Syndrome

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

75
# 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

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

6
(show top 50) (show all 110)
# Gene Variation Type Significance SNP ID Assembly Location
1 SPATA5 NM_145207.2(SPATA5): c.1A> C (p.Met1Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs552219028 GRCh37 Chromosome 4, 123844298: 123844298
2 SPATA5 NM_145207.2(SPATA5): c.1A> C (p.Met1Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs552219028 GRCh38 Chromosome 4, 122923143: 122923143
3 SPATA5 NM_145207.2(SPATA5): c.298G> A (p.Ala100Thr) single nucleotide variant Pathogenic rs796051895 GRCh37 Chromosome 4, 123850204: 123850204
4 SPATA5 NM_145207.2(SPATA5): c.298G> A (p.Ala100Thr) single nucleotide variant Pathogenic rs796051895 GRCh38 Chromosome 4, 122929049: 122929049
5 SPATA5 NM_145207.2(SPATA5): c.1159C> T (p.Pro387Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs201751275 GRCh37 Chromosome 4, 123856880: 123856880
6 SPATA5 NM_145207.2(SPATA5): c.1159C> T (p.Pro387Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs201751275 GRCh38 Chromosome 4, 122935725: 122935725
7 SPATA5 NM_145207.2(SPATA5): c.1343C> T (p.Ser448Leu) single nucleotide variant Pathogenic rs766034355 GRCh38 Chromosome 4, 122938134: 122938134
8 SPATA5 NM_145207.2(SPATA5): c.1343C> T (p.Ser448Leu) single nucleotide variant Pathogenic rs766034355 GRCh37 Chromosome 4, 123859289: 123859289
9 SPATA5 NM_145207.2(SPATA5): c.1574_1578delATGCT (p.Asn525Thrfs) deletion Pathogenic rs796051891 GRCh37 Chromosome 4, 123868503: 123868507
10 SPATA5 NM_145207.2(SPATA5): c.1574_1578delATGCT (p.Asn525Thrfs) deletion Pathogenic rs796051891 GRCh38 Chromosome 4, 122947348: 122947352
11 SPATA5 NM_145207.2(SPATA5): c.1964G> A (p.Arg655Gln) single nucleotide variant Uncertain significance rs147873489 GRCh38 Chromosome 4, 123028280: 123028280
12 SPATA5 NM_145207.2(SPATA5): c.1964G> A (p.Arg655Gln) single nucleotide variant Uncertain significance rs147873489 GRCh37 Chromosome 4, 123949435: 123949435
13 SPATA5 NM_145207.2(SPATA5): c.2531C> T (p.Ala844Val) single nucleotide variant Uncertain significance rs796051892 GRCh37 Chromosome 4, 124235068: 124235068
14 SPATA5 NM_145207.2(SPATA5): c.2531C> T (p.Ala844Val) single nucleotide variant Uncertain significance rs796051892 GRCh38 Chromosome 4, 123313913: 123313913
15 SPATA5 NM_145207.2(SPATA5): c.556C> T (p.Arg186Ter) single nucleotide variant Pathogenic rs796052095 GRCh37 Chromosome 4, 123855302: 123855302
16 SPATA5 NM_145207.2(SPATA5): c.556C> T (p.Arg186Ter) single nucleotide variant Pathogenic rs796052095 GRCh38 Chromosome 4, 122934147: 122934147
17 SPATA5 NM_145207.2(SPATA5): c.989_991delCAA (p.Thr330del) deletion Pathogenic/Likely pathogenic rs796052243 GRCh37 Chromosome 4, 123855735: 123855737
18 SPATA5 NM_145207.2(SPATA5): c.989_991delCAA (p.Thr330del) deletion Pathogenic/Likely pathogenic rs796052243 GRCh38 Chromosome 4, 122934580: 122934582
19 SPATA5 NM_145207.2(SPATA5): c.2485G> T (p.Asp829Tyr) single nucleotide variant Benign/Likely benign rs35206443 GRCh38 Chromosome 4, 123256160: 123256160
20 SPATA5 NM_145207.2(SPATA5): c.2485G> T (p.Asp829Tyr) single nucleotide variant Benign/Likely benign rs35206443 GRCh37 Chromosome 4, 124177315: 124177315
21 SPATA5 NM_145207.2(SPATA5): c.1527C> T (p.Leu509=) single nucleotide variant Benign rs6534369 GRCh37 Chromosome 4, 123868456: 123868456
22 SPATA5 NM_145207.2(SPATA5): c.1527C> T (p.Leu509=) single nucleotide variant Benign rs6534369 GRCh38 Chromosome 4, 122947301: 122947301
23 SPATA5 NM_145207.2(SPATA5): c.2081G> A (p.Gly694Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs141576468 GRCh38 Chromosome 4, 123056388: 123056388
24 SPATA5 NM_145207.2(SPATA5): c.2081G> A (p.Gly694Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs141576468 GRCh37 Chromosome 4, 123977543: 123977543
25 SPATA5 NM_145207.2(SPATA5): c.384C> T (p.Ala128=) single nucleotide variant Likely benign GRCh37 Chromosome 4, 123850290: 123850290
26 SPATA5 NM_145207.2(SPATA5): c.384C> T (p.Ala128=) single nucleotide variant Likely benign GRCh38 Chromosome 4, 122929135: 122929135
27 SPATA5 NM_145207.2(SPATA5): c.585G> A (p.Val195=) single nucleotide variant Likely benign rs372782312 GRCh37 Chromosome 4, 123855331: 123855331
28 SPATA5 NM_145207.2(SPATA5): c.585G> A (p.Val195=) single nucleotide variant Likely benign rs372782312 GRCh38 Chromosome 4, 122934176: 122934176
29 SPATA5 NM_145207.2(SPATA5): c.807G> T (p.Leu269=) single nucleotide variant Benign rs17006342 GRCh37 Chromosome 4, 123855553: 123855553
30 SPATA5 NM_145207.2(SPATA5): c.807G> T (p.Leu269=) single nucleotide variant Benign rs17006342 GRCh38 Chromosome 4, 122934398: 122934398
31 SPATA5 NM_145207.2(SPATA5): c.1100A> T (p.Glu367Val) single nucleotide variant Uncertain significance rs972337890 GRCh37 Chromosome 4, 123855846: 123855846
32 SPATA5 NM_145207.2(SPATA5): c.1100A> T (p.Glu367Val) single nucleotide variant Uncertain significance rs972337890 GRCh38 Chromosome 4, 122934691: 122934691
33 SPATA5 NM_145207.2(SPATA5): c.1587G> T (p.Arg529=) single nucleotide variant Likely benign rs140187138 GRCh37 Chromosome 4, 123868516: 123868516
34 SPATA5 NM_145207.2(SPATA5): c.1587G> T (p.Arg529=) single nucleotide variant Likely benign rs140187138 GRCh38 Chromosome 4, 122947361: 122947361
35 SPATA5 NM_145207.2(SPATA5): c.2219T> C (p.Leu740Ser) single nucleotide variant Uncertain significance rs199626476 GRCh37 Chromosome 4, 124011739: 124011739
36 SPATA5 NM_145207.2(SPATA5): c.2219T> C (p.Leu740Ser) single nucleotide variant Uncertain significance rs199626476 GRCh38 Chromosome 4, 123090584: 123090584
37 SPATA5 NM_145207.2(SPATA5): c.2T> C (p.Met1Thr) single nucleotide variant Uncertain significance rs765170329 GRCh38 Chromosome 4, 122923144: 122923144
38 SPATA5 NM_145207.2(SPATA5): c.2T> C (p.Met1Thr) single nucleotide variant Uncertain significance rs765170329 GRCh37 Chromosome 4, 123844299: 123844299
39 SPATA5 NM_145207.2(SPATA5): c.80G> C (p.Cys27Ser) single nucleotide variant Benign rs35430470 GRCh38 Chromosome 4, 122923222: 122923222
40 SPATA5 NM_145207.2(SPATA5): c.80G> C (p.Cys27Ser) single nucleotide variant Benign rs35430470 GRCh37 Chromosome 4, 123844377: 123844377
41 SPATA5 NM_145207.2(SPATA5): c.1209C> T (p.Ile403=) single nucleotide variant Likely benign rs751925881 GRCh38 Chromosome 4, 122935775: 122935775
42 SPATA5 NM_145207.2(SPATA5): c.1209C> T (p.Ile403=) single nucleotide variant Likely benign rs751925881 GRCh37 Chromosome 4, 123856930: 123856930
43 SPATA5 NM_145207.2(SPATA5): c.367G> T (p.Val123Leu) single nucleotide variant Uncertain significance rs150058325 GRCh38 Chromosome 4, 122929118: 122929118
44 SPATA5 NM_145207.2(SPATA5): c.367G> T (p.Val123Leu) single nucleotide variant Uncertain significance rs150058325 GRCh37 Chromosome 4, 123850273: 123850273
45 SPATA5 NM_145207.2(SPATA5): c.436G> A (p.Val146Met) single nucleotide variant Uncertain significance rs374771569 GRCh38 Chromosome 4, 122929187: 122929187
46 SPATA5 NM_145207.2(SPATA5): c.436G> A (p.Val146Met) single nucleotide variant Uncertain significance rs374771569 GRCh37 Chromosome 4, 123850342: 123850342
47 SPATA5 NM_145207.2(SPATA5): c.1131G> A (p.Glu377=) single nucleotide variant Benign rs139089747 GRCh38 Chromosome 4, 122934722: 122934722
48 SPATA5 NM_145207.2(SPATA5): c.1131G> A (p.Glu377=) single nucleotide variant Benign rs139089747 GRCh37 Chromosome 4, 123855877: 123855877
49 SPATA5 NM_145207.2(SPATA5): c.1334+6_1334+9delCTTT deletion Likely benign GRCh38 Chromosome 4, 122936162: 122936165
50 SPATA5 NM_145207.2(SPATA5): c.1334+6_1334+9delCTTT deletion Likely benign GRCh37 Chromosome 4, 123857317: 123857320

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 NUDT6 SPATA5

Sources for Epilepsy, Hearing Loss, and Mental Retardation Syndrome

3 CDC
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17 ExPASy
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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