EHLMRS
MCID: EPL149
MIFTS: 30

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

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic 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 73 29 6 39 17
Ehlmrs 57 73
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome 58
Microcephaly-Intellectual Disability-Sensorineural Deafness-Epilepsy-Abnormal Muscle Tone Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

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


HPO:

31
epilepsy, hearing loss, and mental retardation syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


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) (Updated 05-Mar-2021)

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 brain, and related phenotypes are global developmental delay and sensorineural hearing impairment

UniProtKB/Swiss-Prot : 73 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:

58 31 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
3 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
4 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
5 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
6 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
7 poor eye contact 58 31 frequent (33%) Frequent (79-30%) HP:0000817
8 inability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0002540
9 cerebral visual impairment 58 31 occasional (7.5%) Frequent (79-30%) HP:0100704
10 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
11 cerebral hypomyelination 58 31 frequent (33%) Frequent (79-30%) HP:0006808
12 severe expressive language delay 58 31 frequent (33%) Frequent (79-30%) HP:0006863
13 severe receptive language delay 58 31 frequent (33%) Frequent (79-30%) HP:0011352
14 bilateral tonic-clonic seizure 31 frequent (33%) HP:0002069
15 generalized myoclonic seizure 31 frequent (33%) HP:0002123
16 generalized non-motor (absence) seizure 31 frequent (33%) HP:0002121
17 scoliosis 58 31 occasional (7.5%) Very rare (<4-1%) HP:0002650
18 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
19 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
20 neonatal hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001319
21 immunodeficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002721
22 retrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000278
23 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
24 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
25 highly arched eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0002553
26 underdeveloped nasal alae 58 31 occasional (7.5%) Occasional (29-5%) HP:0000430
27 infantile spasms 58 31 occasional (7.5%) Occasional (29-5%) HP:0012469
28 long nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003189
29 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
30 hypsarrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002521
31 limb hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002509
32 broad eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0011229
33 global brain atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002283
34 congenital microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0011451
35 high nonceruloplasmin-bound serum copper 58 31 occasional (7.5%) Occasional (29-5%) HP:0010838
36 eeg with frontal sharp slow waves 58 31 occasional (7.5%) Occasional (29-5%) HP:0011290
37 failure to thrive 31 occasional (7.5%) HP:0001508
38 nystagmus 31 occasional (7.5%) HP:0000639
39 strabismus 31 occasional (7.5%) HP:0000486
40 cns hypomyelination 31 occasional (7.5%) HP:0003429
41 self-injurious behavior 58 31 very rare (1%) Very rare (<4-1%) HP:0100716
42 stereotypy 58 31 very rare (1%) Very rare (<4-1%) HP:0000733
43 atrial septal defect 58 31 very rare (1%) Very rare (<4-1%) HP:0001631
44 gastrostomy tube feeding in infancy 58 31 very rare (1%) Very rare (<4-1%) HP:0011471
45 limb dystonia 58 31 very rare (1%) Very rare (<4-1%) HP:0002451
46 exodeviation 58 31 very rare (1%) Very rare (<4-1%) HP:0020049
47 sacral hypertrichosis 58 31 very rare (1%) Very rare (<4-1%) HP:0004532
48 eeg abnormality 58 31 Very frequent (99-80%) HP:0002353
49 microcephaly 58 31 Very frequent (99-80%) HP:0000252
50 seizures 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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:

40
Eye, Brain

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. 57 6
26299366 2015
2
Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression. 61
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 224)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SPATA5 NM_145207.3(SPATA5):c.298G>A (p.Ala100Thr) SNV Pathogenic 203536 rs796051895 4:123850204-123850204 4:122929049-122929049
2 SPATA5 NM_145207.3(SPATA5):c.1343C>T (p.Ser448Leu) SNV Pathogenic 203527 rs766034355 4:123859289-123859289 4:122938134-122938134
3 SPATA5 NM_145207.3(SPATA5):c.556C>T (p.Arg186Ter) SNV Pathogenic 204306 rs796052095 4:123855302-123855302 4:122934147-122934147
4 SPATA5 NM_145207.3(SPATA5):c.1963C>T (p.Arg655Ter) SNV Pathogenic 836262 4:123949434-123949434 4:123028279-123028279
5 SPATA5 NM_145207.3(SPATA5):c.1030C>T (p.Gln344Ter) SNV Pathogenic 839145 4:123855776-123855776 4:122934621-122934621
6 SPATA5 NM_145207.3(SPATA5):c.1883A>G (p.Asp628Gly) SNV Pathogenic 203524 rs768528444 4:123949354-123949354 4:123028199-123028199
7 SPATA5 NM_145207.3(SPATA5):c.250C>T (p.Arg84Ter) SNV Pathogenic 844710 4:123848875-123848875 4:122927720-122927720
8 SPATA5 NM_145207.3(SPATA5):c.1540C>T (p.Arg514Ter) SNV Pathogenic 856522 4:123868469-123868469 4:122947314-122947314
9 SPATA5 NM_145207.3(SPATA5):c.1612C>T (p.Arg538Ter) SNV Pathogenic 864697 4:123868541-123868541 4:122947386-122947386
10 SPATA5 NM_145207.3(SPATA5):c.1747C>T (p.Gln583Ter) SNV Pathogenic 838696 4:123900419-123900419 4:122979264-122979264
11 SPATA5 NM_145207.3(SPATA5):c.1820del (p.Asn607fs) Deletion Pathogenic 651167 rs1578612173 4:123900491-123900491 4:122979336-122979336
12 SPATA5 NM_145207.3(SPATA5):c.2038G>T (p.Ala680Ser) SNV Pathogenic 666562 rs1578710903 4:123949509-123949509 4:123028354-123028354
13 SPATA5 NM_145207.3(SPATA5):c.1714+1G>A SNV Pathogenic 207803 rs149688478 4:123868644-123868644 4:122947489-122947489
14 SPATA5 NM_145207.3(SPATA5):c.1574_1578del (p.Asn525fs) Deletion Pathogenic 203529 rs796051891 4:123868503-123868507 4:122947348-122947352
15 SPATA5 NM_145207.3(SPATA5):c.2409_2410del (p.Glu804fs) Deletion Pathogenic 575536 rs1560667008 4:124177238-124177239 4:123256083-123256084
16 SPATA5 NM_145207.3(SPATA5):c.2145_2151del (p.Ala716fs) Deletion Pathogenic 934221 4:123978374-123978380 4:123057219-123057225
17 SPATA5 NM_145207.3(SPATA5):c.1528C>T (p.Arg510Ter) SNV Pathogenic 75286 rs267600009 4:123868457-123868457 4:122947302-122947302
18 SPATA5 NM_145207.3(SPATA5):c.1579C>T (p.Gln527Ter) SNV Pathogenic 944975 4:123868508-123868508 4:122947353-122947353
19 SPATA5 NM_145207.3(SPATA5):c.1333C>T (p.Arg445Ter) SNV Pathogenic 948275 4:123857310-123857310 4:122936155-122936155
20 SPATA5 NM_145207.3(SPATA5):c.785del (p.Asn262fs) Deletion Pathogenic 949726 4:123855529-123855529 4:122934374-122934374
21 SPATA5 NM_145207.3(SPATA5):c.1964del (p.Arg655fs) Deletion Pathogenic 951542 4:123949435-123949435 4:123028280-123028280
22 SPATA5 NM_145207.3(SPATA5):c.421del (p.Ala141fs) Deletion Pathogenic 946570 4:123850326-123850326 4:122929171-122929171
23 SPATA5 NM_145207.3(SPATA5):c.1073del (p.Gly357_Leu358insTer) Deletion Pathogenic 373135 rs751291521 4:123855818-123855818 4:122934663-122934663
24 SPATA5 NM_145207.3(SPATA5):c.2140C>T (p.Arg714Ter) SNV Pathogenic 971669 4:123978370-123978370 4:123057215-123057215
25 SPATA5 NM_145207.3(SPATA5):c.580C>T (p.Arg194Ter) SNV Pathogenic 969483 4:123855326-123855326 4:122934171-122934171
26 SPATA5 NM_145207.3(SPATA5):c.661C>T (p.Gln221Ter) SNV Pathogenic 542389 rs1553955672 4:123855407-123855407 4:122934252-122934252
27 SPATA5 NM_145207.3(SPATA5):c.394C>T (p.Gln132Ter) SNV Pathogenic 488607 rs1220351376 4:123850300-123850300 4:122929145-122929145
28 SPATA5 NM_145207.3(SPATA5):c.700C>T (p.Gln234Ter) SNV Pathogenic 488608 rs775269863 4:123855446-123855446 4:122934291-122934291
29 SPATA5 NM_145207.3(SPATA5):c.1039_1040dup (p.Gln347fs) Duplication Pathogenic 652524 rs1578528119 4:123855784-123855785 4:122934629-122934630
30 SPATA5 NC_000004.12:g.(?_123056367)_(123057308_?)del Deletion Pathogenic 542396 4:123977522-123978463 4:123056367-123057308
31 SPATA5 NC_000004.12:g.(?_123056387)_(123057288_?)del Deletion Pathogenic 583652 4:123977542-123978443 4:123056387-123057288
32 SPATA5 NM_145207.3(SPATA5):c.251G>A (p.Arg84Gln) SNV Pathogenic 203534 rs745858366 4:123848876-123848876 4:122927721-122927721
33 SPATA5 NM_145207.3(SPATA5):c.1741A>T (p.Lys581Ter) SNV Pathogenic 992965 4:123900413-123900413 4:122979258-122979258
34 SPATA5 NM_145207.3(SPATA5):c.983_985CAA[2] (p.Thr330del) Microsatellite Pathogenic/Likely pathogenic 207828 rs796052243 4:123855729-123855731 4:122934574-122934576
35 SPATA5 NM_145207.3(SPATA5):c.164-1053_446+1328dup Duplication Likely pathogenic 584441 4:123847734-123847735 4:122926579-122926580
36 SPATA5 NM_145207.3(SPATA5):c.2384C>G (p.Pro795Arg) SNV Likely pathogenic 488610 rs1553934697 4:124177214-124177214 4:123256059-123256059
37 SPATA5 NM_145207.3(SPATA5):c.1822_1824del (p.Asp608del) Deletion Likely pathogenic 984704 4:123900492-123900494 4:122979337-122979339
38 SPATA5 NM_145207.3(SPATA5):c.2079+1dup Duplication Likely pathogenic 569060 rs1560894236 4:123949549-123949550 4:123028394-123028395
39 SPATA5 NM_145207.3(SPATA5):c.1715-1G>C SNV Likely pathogenic 568380 rs1263369560 4:123900386-123900386 4:122979231-122979231
40 SPATA5 NM_145207.3(SPATA5):c.1586G>A (p.Arg529Gln) SNV Likely pathogenic 203523 rs567175477 4:123868515-123868515 4:122947360-122947360
41 SPATA5 NM_145207.3(SPATA5):c.447-2A>G SNV Likely pathogenic 841648 4:123854592-123854592 4:122933437-122933437
42 SPATA5 NM_145207.3(SPATA5):c.446+1G>A SNV Likely pathogenic 546179 rs1166181741 4:123850353-123850353 4:122929198-122929198
43 SPATA5 NM_145207.3(SPATA5):c.1912A>G (p.Lys638Glu) SNV Conflicting interpretations of pathogenicity 568026 rs560475969 4:123949383-123949383 4:123028228-123028228
44 SPATA5 NM_145207.3(SPATA5):c.2531C>T (p.Ala844Val) SNV Uncertain significance 203530 rs796051892 4:124235068-124235068 4:123313913-123313913
45 SPATA5 NM_145207.3(SPATA5):c.65C>G (p.Ser22Cys) SNV Uncertain significance 566797 rs1560780127 4:123844362-123844362 4:122923207-122923207
46 SPATA5 NM_145207.3(SPATA5):c.1151T>C (p.Ile384Thr) SNV Uncertain significance 567397 rs780025409 4:123856872-123856872 4:122935717-122935717
47 SPATA5 NM_145207.3(SPATA5):c.1159C>T (p.Pro387Ser) SNV Uncertain significance 203535 rs201751275 4:123856880-123856880 4:122935725-122935725
48 SPATA5 NM_145207.3(SPATA5):c.1964G>A (p.Arg655Gln) SNV Uncertain significance 203526 rs147873489 4:123949435-123949435 4:123028280-123028280
49 SPATA5 NM_145207.3(SPATA5):c.2527G>A (p.Ala843Thr) SNV Uncertain significance 982723 4:124235064-124235064 4:123313909-123313909
50 SPATA5 NM_145207.3(SPATA5):c.1169T>G (p.Val390Gly) SNV Uncertain significance 982753 4:123856890-123856890 4:122935735-122935735

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

73
# 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

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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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