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 56 73 29 6 39 17
Ehlmrs 56 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:

56
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 : 56 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 brain and eye, and related phenotypes are scoliosis and immunodeficiency

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 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 occasional (7.5%) Very rare (<4-1%) HP:0002650
2 immunodeficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002721
3 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
4 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
5 cerebral visual impairment 58 31 occasional (7.5%) Frequent (79-30%) HP:0100704
6 failure to thrive 31 occasional (7.5%) HP:0001508
7 nystagmus 31 occasional (7.5%) HP:0000639
8 strabismus 31 occasional (7.5%) HP:0000486
9 cns hypomyelination 31 occasional (7.5%) HP:0003429
10 seizures 58 31 Frequent (79-30%) HP:0001250
11 spasticity 58 31 Frequent (79-30%) HP:0001257
12 eeg abnormality 58 31 Very frequent (99-80%) HP:0002353
13 global developmental delay 58 31 Very frequent (99-80%) HP:0001263
14 microcephaly 58 31 Very frequent (99-80%) HP:0000252
15 sensorineural hearing impairment 58 31 Very frequent (99-80%) HP:0000407
16 intellectual disability, severe 58 31 Frequent (79-30%) HP:0010864
17 absent speech 58 31 Frequent (79-30%) HP:0001344
18 limb hypertonia 58 31 Occasional (29-5%) HP:0002509
19 brain atrophy 58 Occasional (29-5%)
20 constipation 58 Occasional (29-5%)
21 self-injurious behavior 58 Very rare (<4-1%)
22 depressed nasal bridge 58 Occasional (29-5%)
23 feeding difficulties 31 HP:0011968
24 underdeveloped nasal alae 58 Occasional (29-5%)
25 neonatal hypotonia 58 Occasional (29-5%)
26 cerebral cortical atrophy 58 Occasional (29-5%)
27 intellectual disability, moderate 58 Frequent (79-30%)
28 visual impairment 58 Very frequent (99-80%)
29 congenital microcephaly 58 Occasional (29-5%)
30 stereotypy 58 Very rare (<4-1%)
31 highly arched eyebrow 58 Occasional (29-5%)
32 generalized myoclonic seizures 58 Frequent (79-30%)
33 retrognathia 58 Occasional (29-5%)
34 atrial septal defect 58 Very rare (<4-1%)
35 inability to walk 58 Frequent (79-30%)
36 generalized tonic-clonic seizures 58 Frequent (79-30%)
37 infantile muscular hypotonia 58 Frequent (79-30%)
38 absence seizure 58 Frequent (79-30%)
39 hypsarrhythmia 58 Occasional (29-5%)
40 autistic behavior 58 Frequent (79-30%)
41 infantile spasms 58 Occasional (29-5%)
42 long nose 58 Occasional (29-5%)
43 poor eye contact 58 Frequent (79-30%)
44 gastrostomy tube feeding in infancy 58 Very rare (<4-1%)
45 severe expressive language delay 58 Frequent (79-30%)
46 severe receptive language delay 58 Frequent (79-30%)
47 abnormality of brain morphology 58 Frequent (79-30%)
48 muscular hypotonia of the trunk 31 HP:0008936
49 cerebral hypomyelination 58 Frequent (79-30%)
50 exodeviation 58 Very rare (<4-1%)

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
spasticity
mental retardation, severe
eeg abnormalities
delayed development
more
Head And Neck Head:
microcephaly

Head And Neck Ears:
sensorineural hearing loss

Hematology:
thrombocytopenia (in some patients)

Growth Other:
failure to thrive (in some patients)

Abdomen Gastrointestinal:
feeding difficulties

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:

40
Brain, 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. 56 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:

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# 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.1574_1578del (p.Asn525fs)deletion Pathogenic 203529 rs796051891 4:123868503-123868507 4:122947348-122947352
4 SPATA5 NM_145207.3(SPATA5):c.556C>T (p.Arg186Ter)SNV Pathogenic 204306 rs796052095 4:123855302-123855302 4:122934147-122934147
5 SPATA5 NM_145207.3(SPATA5):c.1714+1G>ASNV Pathogenic 207803 rs149688478 4:123868644-123868644 4:122947489-122947489
6 SPATA5 NM_145207.3(SPATA5):c.394C>T (p.Gln132Ter)SNV Pathogenic 488607 rs1220351376 4:123850300-123850300 4:122929145-122929145
7 SPATA5 NM_145207.3(SPATA5):c.700C>T (p.Gln234Ter)SNV Pathogenic 488608 rs775269863 4:123855446-123855446 4:122934291-122934291
8 SPATA5 NM_145207.3(SPATA5):c.661C>T (p.Gln221Ter)SNV Pathogenic 542389 rs1553955672 4:123855407-123855407 4:122934252-122934252
9 SPATA5 NC_000004.11:g.(?_123977522)_(123978463_?)deldeletion Pathogenic 542396 4:123977522-123978463 4:123056367-123057308
10 SPATA5 NC_000004.11:g.(?_123977542)_(123978443_?)deldeletion Pathogenic 583652 4:123977542-123978443 4:123056387-123057288
11 SPATA5 NM_145207.3(SPATA5):c.1039_1040dup (p.Gln347fs)duplication Pathogenic 652524 4:123855784-123855785 4:122934629-122934630
12 SPATA5 NM_145207.3(SPATA5):c.2409_2410del (p.Glu804fs)deletion Pathogenic 575536 rs1560667008 4:124177238-124177239 4:123256083-123256084
13 SPATA5 NM_145207.3(SPATA5):c.1820del (p.Asn607fs)deletion Pathogenic 651167 4:123900491-123900491 4:122979336-122979336
14 SPATA5 NM_145207.3(SPATA5):c.2038G>T (p.Ala680Ser)SNV Pathogenic 666562 4:123949509-123949509 4:123028354-123028354
15 SPATA5 NM_145207.3(SPATA5):c.983_985CAA[2] (p.Thr330del)short repeat Pathogenic/Likely pathogenic 207828 rs796052243 4:123855729-123855731 4:122934574-122934576
16 SPATA5 NM_145207.3(SPATA5):c.251G>A (p.Arg84Gln)SNV Pathogenic/Likely pathogenic 203534 rs745858366 4:123848876-123848876 4:122927721-122927721
17 SPATA5 NM_145207.3(SPATA5):c.2384C>G (p.Pro795Arg)SNV Likely pathogenic 488610 rs1553934697 4:124177214-124177214 4:123256059-123256059
18 SPATA5 duplication Likely pathogenic 584441 4:123847735-123851679
19 SPATA5 NM_145207.3(SPATA5):c.1715-1G>CSNV Likely pathogenic 568380 rs1263369560 4:123900386-123900386 4:122979231-122979231
20 SPATA5 NM_145207.3(SPATA5):c.2079+1dupduplication Likely pathogenic 569060 rs1560894236 4:123949549-123949550 4:123028394-123028395
21 SPATA5 NM_145207.3(SPATA5):c.2T>C (p.Met1Thr)SNV Conflicting interpretations of pathogenicity 475728 rs765170329 4:123844299-123844299 4:122923144-122923144
22 SPATA5 NM_145207.3(SPATA5):c.1A>C (p.Met1Leu)SNV Conflicting interpretations of pathogenicity 203533 rs552219028 4:123844298-123844298 4:122923143-122923143
23 SPATA5 NM_145207.3(SPATA5):c.1159C>T (p.Pro387Ser)SNV Conflicting interpretations of pathogenicity 203535 rs201751275 4:123856880-123856880 4:122935725-122935725
24 SPATA5 NM_145207.3(SPATA5):c.1877G>C (p.Trp626Ser)SNV Conflicting interpretations of pathogenicity 426803 rs375343753 4:123949348-123949348 4:123028193-123028193
25 SPATA5 NM_145207.3(SPATA5):c.2081G>A (p.Gly694Glu)SNV Conflicting interpretations of pathogenicity 449961 rs141576468 4:123977543-123977543 4:123056388-123056388
26 SPATA5 NM_145207.3(SPATA5):c.1100A>T (p.Glu367Val)SNV Uncertain significance 475714 rs972337890 4:123855846-123855846 4:122934691-122934691
27 SPATA5 NM_145207.3(SPATA5):c.2219T>C (p.Leu740Ser)SNV Uncertain significance 475725 rs199626476 4:124011739-124011739 4:123090584-123090584
28 SPATA5 NM_145207.3(SPATA5):c.1964G>A (p.Arg655Gln)SNV Uncertain significance 203526 rs147873489 4:123949435-123949435 4:123028280-123028280
29 SPATA5 NM_145207.3(SPATA5):c.2531C>T (p.Ala844Val)SNV Uncertain significance 203530 rs796051892 4:124235068-124235068 4:123313913-123313913
30 SPATA5 NM_145207.3(SPATA5):c.1963C>G (p.Arg655Gly)SNV Uncertain significance 542388 rs763737752 4:123949434-123949434 4:123028279-123028279
31 SPATA5 NM_145207.3(SPATA5):c.1502G>A (p.Arg501His)SNV Uncertain significance 542387 rs148135198 4:123868431-123868431 4:122947276-122947276
32 SPATA5 NM_145207.3(SPATA5):c.367G>T (p.Val123Leu)SNV Uncertain significance 475729 rs150058325 4:123850273-123850273 4:122929118-122929118
33 SPATA5 NM_145207.3(SPATA5):c.436G>A (p.Val146Met)SNV Uncertain significance 475731 rs374771569 4:123850342-123850342 4:122929187-122929187
34 SPATA5 NM_145207.3(SPATA5):c.1622C>G (p.Pro541Arg)SNV Uncertain significance 475722 rs143957561 4:123868551-123868551 4:122947396-122947396
35 SPATA5 NM_145207.3(SPATA5):c.2485G>A (p.Asp829Asn)SNV Uncertain significance 475727 rs35206443 4:124177315-124177315 4:123256160-123256160
36 SPATA5 NM_145207.3(SPATA5):c.1154C>T (p.Pro385Leu)SNV Uncertain significance 475716 rs1553956091 4:123856875-123856875 4:122935720-122935720
37 SPATA5 NM_145207.3(SPATA5):c.1441A>T (p.Met481Leu)SNV Uncertain significance 475719 rs769181441 4:123859387-123859387 4:122938232-122938232
38 SPATA5 NM_145207.3(SPATA5):c.2321G>A (p.Arg774His)SNV Uncertain significance 475726 rs539850739 4:124011841-124011841 4:123090686-123090686
39 SPATA5 NM_145207.3(SPATA5):c.2074A>G (p.Ile692Val)SNV Uncertain significance 542382 rs370427695 4:123949545-123949545 4:123028390-123028390
40 SPATA5 NM_145207.3(SPATA5):c.637G>A (p.Asp213Asn)SNV Uncertain significance 574573 rs139066705 4:123855383-123855383 4:122934228-122934228
41 SPATA5 NM_145207.3(SPATA5):c.1151T>C (p.Ile384Thr)SNV Uncertain significance 567397 rs780025409 4:123856872-123856872 4:122935717-122935717
42 SPATA5 NM_145207.3(SPATA5):c.1664G>C (p.Ser555Thr)SNV Uncertain significance 572155 rs111333879 4:123868593-123868593 4:122947438-122947438
43 SPATA5 NM_145207.3(SPATA5):c.1912A>G (p.Lys638Glu)SNV Uncertain significance 568026 rs560475969 4:123949383-123949383 4:123028228-123028228
44 SPATA5 NM_145207.3(SPATA5):c.65C>G (p.Ser22Cys)SNV Uncertain significance 566797 rs1560780127 4:123844362-123844362 4:122923207-122923207
45 SPATA5 NM_145207.3(SPATA5):c.778A>G (p.Ile260Val)SNV Uncertain significance 575117 rs200105631 4:123855524-123855524 4:122934369-122934369
46 SPATA5 NM_145207.3(SPATA5):c.1049T>A (p.Val350Glu)SNV Uncertain significance 577371 rs1286156167 4:123855795-123855795 4:122934640-122934640
47 SPATA5 NM_145207.3(SPATA5):c.1345A>G (p.Ile449Val)SNV Uncertain significance 576839 rs1175885311 4:123859291-123859291 4:122938136-122938136
48 SPATA5 NM_145207.3(SPATA5):c.2134-4C>GSNV Uncertain significance 542381 rs375025031 4:123978360-123978360 4:123057205-123057205
49 SPATA5 NM_145207.3(SPATA5):c.2635C>T (p.Arg879Cys)SNV Uncertain significance 542385 rs28716389 4:124235172-124235172 4:123314017-123314017
50 SPATA5 NM_145207.3(SPATA5):c.830A>T (p.Asp277Val)SNV Uncertain significance 542383 rs150370442 4:123855576-123855576 4:122934421-122934421

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

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