EHLMRS
MCID: EPL149
MIFTS: 30

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 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 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
18 scoliosis 58 31 occasional (7.5%) Very rare (<4-1%) HP:0002650
19 neonatal hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001319
20 immunodeficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002721
21 retrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000278
22 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
23 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
24 highly arched eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0002553
25 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
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 stereotypy 58 31 very rare (1%) Very rare (<4-1%) HP:0000733
42 atrial septal defect 58 31 very rare (1%) Very rare (<4-1%) HP:0001631
43 self-injurious behavior 58 31 very rare (1%) Very rare (<4-1%) HP:0100716
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 microcephaly 58 31 Very frequent (99-80%) HP:0000252
49 eeg abnormality 58 31 Very frequent (99-80%) HP:0002353
50 seizures 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
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:

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:

6 (show top 50) (show all 174) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SPATA5 NM_145207.3(SPATA5):c.394C>T (p.Gln132Ter)SNV Pathogenic 488607 rs1220351376 4:123850300-123850300 4:122929145-122929145
2 SPATA5 NM_145207.3(SPATA5):c.700C>T (p.Gln234Ter)SNV Pathogenic 488608 rs775269863 4:123855446-123855446 4:122934291-122934291
3 SPATA5 NM_145207.3(SPATA5):c.661C>T (p.Gln221Ter)SNV Pathogenic 542389 rs1553955672 4:123855407-123855407 4:122934252-122934252
4 SPATA5 NC_000004.12:g.(?_123056367)_(123057308_?)deldeletion Pathogenic 542396 4:123977522-123978463 4:123056367-123057308
5 SPATA5 NC_000004.12:g.(?_123056387)_(123057288_?)deldeletion Pathogenic 583652 4:123977542-123978443 4:123056387-123057288
6 SPATA5 NM_145207.3(SPATA5):c.1039_1040dup (p.Gln347fs)duplication Pathogenic 652524 4:123855784-123855785 4:122934629-122934630
7 SPATA5 NM_145207.3(SPATA5):c.2038G>T (p.Ala680Ser)SNV Pathogenic 666562 4:123949509-123949509 4:123028354-123028354
8 SPATA5 NM_145207.3(SPATA5):c.2409_2410del (p.Glu804fs)deletion Pathogenic 575536 rs1560667008 4:124177238-124177239 4:123256083-123256084
9 SPATA5 NM_145207.3(SPATA5):c.1820del (p.Asn607fs)deletion Pathogenic 651167 4:123900491-123900491 4:122979336-122979336
10 SPATA5 NM_145207.3(SPATA5):c.250C>T (p.Arg84Ter)SNV Pathogenic 844710 4:123848875-123848875 4:122927720-122927720
11 SPATA5 NM_145207.3(SPATA5):c.1030C>T (p.Gln344Ter)SNV Pathogenic 839145 4:123855776-123855776 4:122934621-122934621
12 SPATA5 NM_145207.3(SPATA5):c.1540C>T (p.Arg514Ter)SNV Pathogenic 856522 4:123868469-123868469 4:122947314-122947314
13 SPATA5 NM_145207.3(SPATA5):c.1612C>T (p.Arg538Ter)SNV Pathogenic 864697 4:123868541-123868541 4:122947386-122947386
14 SPATA5 NM_145207.3(SPATA5):c.1747C>T (p.Gln583Ter)SNV Pathogenic 838696 4:123900419-123900419 4:122979264-122979264
15 SPATA5 NM_145207.3(SPATA5):c.1963C>T (p.Arg655Ter)SNV Pathogenic 836262 4:123949434-123949434 4:123028279-123028279
16 SPATA5 NM_145207.3(SPATA5):c.298G>A (p.Ala100Thr)SNV Pathogenic 203536 rs796051895 4:123850204-123850204 4:122929049-122929049
17 SPATA5 NM_145207.3(SPATA5):c.1343C>T (p.Ser448Leu)SNV Pathogenic 203527 rs766034355 4:123859289-123859289 4:122938134-122938134
18 SPATA5 NM_145207.3(SPATA5):c.1574_1578del (p.Asn525fs)deletion Pathogenic 203529 rs796051891 4:123868503-123868507 4:122947348-122947352
19 SPATA5 NM_145207.3(SPATA5):c.556C>T (p.Arg186Ter)SNV Pathogenic 204306 rs796052095 4:123855302-123855302 4:122934147-122934147
20 SPATA5 NM_145207.3(SPATA5):c.1714+1G>ASNV Pathogenic 207803 rs149688478 4:123868644-123868644 4:122947489-122947489
21 SPATA5 NM_145207.3(SPATA5):c.983_985CAA[2] (p.Thr330del)short repeat Pathogenic/Likely pathogenic 207828 rs796052243 4:123855729-123855731 4:122934574-122934576
22 SPATA5 NM_145207.3(SPATA5):c.1883A>G (p.Asp628Gly)SNV Pathogenic/Likely pathogenic 203524 rs768528444 4:123949354-123949354 4:123028199-123028199
23 SPATA5 NM_145207.3(SPATA5):c.251G>A (p.Arg84Gln)SNV Pathogenic/Likely pathogenic 203534 rs745858366 4:123848876-123848876 4:122927721-122927721
24 SPATA5 NM_145207.3(SPATA5):c.447-2A>GSNV Likely pathogenic 841648 4:123854592-123854592 4:122933437-122933437
25 SPATA5 NM_145207.3(SPATA5):c.1586G>A (p.Arg529Gln)SNV Likely pathogenic 203523 rs567175477 4:123868515-123868515 4:122947360-122947360
26 SPATA5 NM_145207.3(SPATA5):c.2079+1dupduplication Likely pathogenic 569060 rs1560894236 4:123949549-123949550 4:123028394-123028395
27 SPATA5 duplication Likely pathogenic 584441 4:123847735-123851679
28 SPATA5 NM_145207.3(SPATA5):c.446+1G>ASNV Likely pathogenic 546179 rs1166181741 4:123850353-123850353 4:122929198-122929198
29 SPATA5 NM_145207.3(SPATA5):c.1715-1G>CSNV Likely pathogenic 568380 rs1263369560 4:123900386-123900386 4:122979231-122979231
30 SPATA5 NM_145207.3(SPATA5):c.2384C>G (p.Pro795Arg)SNV Likely pathogenic 488610 rs1553934697 4:124177214-124177214 4:123256059-123256059
31 SPATA5 NM_145207.3(SPATA5):c.766A>G (p.Ile256Val)SNV Conflicting interpretations of pathogenicity 475733 rs143384152 4:123855512-123855512 4:122934357-122934357
32 SPATA5 NM_145207.3(SPATA5):c.2081G>A (p.Gly694Glu)SNV Conflicting interpretations of pathogenicity 449961 rs141576468 4:123977543-123977543 4:123056388-123056388
33 SPATA5 NM_145207.3(SPATA5):c.1877G>C (p.Trp626Ser)SNV Conflicting interpretations of pathogenicity 426803 rs375343753 4:123949348-123949348 4:123028193-123028193
34 SPATA5 NM_145207.3(SPATA5):c.2219T>C (p.Leu740Ser)SNV Conflicting interpretations of pathogenicity 475725 rs199626476 4:124011739-124011739 4:123090584-123090584
35 SPATA5 NM_145207.3(SPATA5):c.2T>C (p.Met1Thr)SNV Conflicting interpretations of pathogenicity 475728 rs765170329 4:123844299-123844299 4:122923144-122923144
36 SPATA5 NM_145207.3(SPATA5):c.1159C>T (p.Pro387Ser)SNV Conflicting interpretations of pathogenicity 203535 rs201751275 4:123856880-123856880 4:122935725-122935725
37 SPATA5 NM_145207.3(SPATA5):c.1A>C (p.Met1Leu)SNV Conflicting interpretations of pathogenicity 203533 rs552219028 4:123844298-123844298 4:122923143-122923143
38 SPATA5 NM_145207.3(SPATA5):c.2405G>A (p.Arg802Lys)SNV Uncertain significance 915286 4:124177235-124177235 4:123256080-123256080
39 SPATA5 NM_145207.3(SPATA5):c.1978C>T (p.Pro660Ser)SNV Uncertain significance 847616 4:123949449-123949449 4:123028294-123028294
40 SPATA5 NM_145207.3(SPATA5):c.2088A>C (p.Glu696Asp)SNV Uncertain significance 858797 4:123977550-123977550 4:123056395-123056395
41 SPATA5 NM_145207.3(SPATA5):c.2117A>G (p.Glu706Gly)SNV Uncertain significance 862535 4:123977579-123977579 4:123056424-123056424
42 SPATA5 NM_145207.3(SPATA5):c.2144A>C (p.Lys715Thr)SNV Uncertain significance 855446 4:123978374-123978374 4:123057219-123057219
43 SPATA5 NM_145207.3(SPATA5):c.2233G>A (p.Val745Ile)SNV Uncertain significance 862411 4:124011753-124011753 4:123090598-123090598
44 SPATA5 NM_145207.3(SPATA5):c.2396C>A (p.Ala799Glu)SNV Uncertain significance 845071 4:124177226-124177226 4:123256071-123256071
45 SPATA5 NM_145207.3(SPATA5):c.2483C>G (p.Thr828Ser)SNV Uncertain significance 851363 4:124177313-124177313 4:123256158-123256158
46 SPATA5 NM_145207.3(SPATA5):c.2505G>C (p.Glu835Asp)SNV Uncertain significance 864824 4:124177335-124177335 4:123256180-123256180
47 SPATA5 NM_145207.3(SPATA5):c.2623G>A (p.Glu875Lys)SNV Uncertain significance 847421 4:124235160-124235160 4:123314005-123314005
48 SPATA5 NM_145207.3(SPATA5):c.2642A>G (p.Tyr881Cys)SNV Uncertain significance 838430 4:124235179-124235179 4:123314024-123314024
49 SPATA5 NM_145207.3(SPATA5):c.164-3T>CSNV Uncertain significance 850872 4:123848786-123848786 4:122927631-122927631
50 SPATA5 NM_145207.3(SPATA5):c.1151T>C (p.Ile384Thr)SNV Uncertain significance 567397 rs780025409 4:123856872-123856872 4:122935717-122935717

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
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57 OMIM via Orphanet
61 PubMed
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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