DEE81
MCID: DVL104
MIFTS: 24

Developmental and Epileptic Encephalopathy 81 (DEE81)

Categories: Cancer diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Developmental and Epileptic Encephalopathy 81

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 81:

Name: Developmental and Epileptic Encephalopathy 81 57 12
Developmental and Epileptic Encephalopathy, 81 29 6
Epileptic Encephalopathy, Early Infantile, 81 57 72
Eiee81 57 72
Dee81 57 12
Epileptic Encephalopathy, Early Infantile, 81; Eiee81 57
Early Infantile Epileptic Encephalopathy 81 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
death in childhood (in some patients)
onset soon after birth


HPO:

31
developmental and epileptic encephalopathy 81:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0112217
OMIM® 57 618663
OMIM Phenotypic Series 57 PS308350
MeSH 44 D013036

Summaries for Developmental and Epileptic Encephalopathy 81

OMIM® : 57 Developmental and epileptic encephalopathy-81 (DEE81) is an autosomal recessive neurodevelopmental disorder typically characterized by onset of severe refractory seizures soon after birth or in the first months of life. Affected individuals show little developmental progress with no eye contact and no motor or cognitive development. Other features may include facial dysmorphism, such as hypotonic facies and epicanthal folds, as well as sensorineural hearing loss and peripheral neuropathy. Brain imaging shows cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy (summary by Esposito et al., 2019; Maddirevula et al., 2019). For a discussion of genetic heterogeneity of DEE, see 308350. (618663) (Updated 20-May-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 81, is also known as developmental and epileptic encephalopathy, 81. An important gene associated with Developmental and Epileptic Encephalopathy 81 is DMXL2 (Dmx Like 2). Affiliated tissues include eye and liver, and related phenotypes are high palate and global developmental delay

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of severe refractory seizures, little developmental progress, cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy that has material basis in homozygous or compound heterozygous mutation in DMXL2 on chromosome 15q21.2.

UniProtKB/Swiss-Prot : 72 Epileptic encephalopathy, early infantile, 81: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE81 is an autosomal recessive form characterized by onset soon after birth, little developmental progress with no eye contact and no motor or cognitive development. Other features may include facial dysmorphism, such as hypotonic facies and epicanthal folds, as well as sensorineural hearing loss and peripheral neuropathy.

Related Diseases for Developmental and Epileptic Encephalopathy 81

Diseases in the Developmental and Epileptic Encephalopathy family:

Developmental and Epileptic Encephalopathy 9 Developmental and Epileptic Encephalopathy 8
Developmental and Epileptic Encephalopathy 2 Developmental and Epileptic Encephalopathy 36
Developmental and Epileptic Encephalopathy 90 Developmental and Epileptic Encephalopathy 1
Developmental and Epileptic Encephalopathy 3 Developmental and Epileptic Encephalopathy 4
Developmental and Epileptic Encephalopathy 39 Developmental and Epileptic Encephalopathy 5
Developmental and Epileptic Encephalopathy 7 Developmental and Epileptic Encephalopathy 11
Developmental and Epileptic Encephalopathy 12 Developmental and Epileptic Encephalopathy 13
Developmental and Epileptic Encephalopathy 14 Developmental and Epileptic Encephalopathy 15
Developmental and Epileptic Encephalopathy 16 Developmental and Epileptic Encephalopathy 94
Developmental and Epileptic Encephalopathy 17 Developmental and Epileptic Encephalopathy 18
Developmental and Epileptic Encephalopathy 19 Developmental and Epileptic Encephalopathy 21
Developmental and Epileptic Encephalopathy 23 Developmental and Epileptic Encephalopathy 24
Developmental and Epileptic Encephalopathy 26 Developmental and Epileptic Encephalopathy 27
Developmental and Epileptic Encephalopathy 28 Developmental and Epileptic Encephalopathy 29
Developmental and Epileptic Encephalopathy 30 Developmental and Epileptic Encephalopathy 31
Developmental and Epileptic Encephalopathy 32 Developmental and Epileptic Encephalopathy 33
Developmental and Epileptic Encephalopathy 50 Developmental and Epileptic Encephalopathy 34
Developmental and Epileptic Encephalopathy 35 Developmental and Epileptic Encephalopathy 37
Developmental and Epileptic Encephalopathy 38 Developmental and Epileptic Encephalopathy 40
Developmental and Epileptic Encephalopathy 41 Developmental and Epileptic Encephalopathy 42
Developmental and Epileptic Encephalopathy 43 Developmental and Epileptic Encephalopathy 44
Developmental and Epileptic Encephalopathy 45 Developmental and Epileptic Encephalopathy 46
Developmental and Epileptic Encephalopathy 47 Developmental and Epileptic Encephalopathy 48
Developmental and Epileptic Encephalopathy 49 Developmental and Epileptic Encephalopathy 51
Developmental and Epileptic Encephalopathy 52 Developmental and Epileptic Encephalopathy 53
Developmental and Epileptic Encephalopathy 54 Developmental and Epileptic Encephalopathy 55
Developmental and Epileptic Encephalopathy 56 Developmental and Epileptic Encephalopathy 91
Developmental and Epileptic Encephalopathy 57 Developmental and Epileptic Encephalopathy 92
Developmental and Epileptic Encephalopathy 58 Developmental and Epileptic Encephalopathy 59
Developmental and Epileptic Encephalopathy 60 Developmental and Epileptic Encephalopathy 61
Developmental and Epileptic Encephalopathy 62 Developmental and Epileptic Encephalopathy 63
Developmental and Epileptic Encephalopathy 64 Developmental and Epileptic Encephalopathy 65
Developmental and Epileptic Encephalopathy 93 Developmental and Epileptic Encephalopathy 66
Developmental and Epileptic Encephalopathy 67 Developmental and Epileptic Encephalopathy 68
Developmental and Epileptic Encephalopathy 69 Developmental and Epileptic Encephalopathy 70
Developmental and Epileptic Encephalopathy 71 Developmental and Epileptic Encephalopathy 72
Developmental and Epileptic Encephalopathy 73 Developmental and Epileptic Encephalopathy 74
Developmental and Epileptic Encephalopathy 75 Developmental and Epileptic Encephalopathy 76
Developmental and Epileptic Encephalopathy 78 Developmental and Epileptic Encephalopathy 79
Developmental and Epileptic Encephalopathy 80 Developmental and Epileptic Encephalopathy 81
Developmental and Epileptic Encephalopathy 82 Developmental and Epileptic Encephalopathy 83
Developmental and Epileptic Encephalopathy 84 Developmental and Epileptic Encephalopathy 86
Developmental and Epileptic Encephalopathy 87 Developmental and Epileptic Encephalopathy 88
Developmental and Epileptic Encephalopathy 89 Developmental and Epileptic Encephalopathy 6b

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 81

Human phenotypes related to Developmental and Epileptic Encephalopathy 81:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 high palate 31 very rare (1%) HP:0000218
2 global developmental delay 31 very rare (1%) HP:0001263
3 sensorineural hearing impairment 31 very rare (1%) HP:0000407
4 epicanthus 31 very rare (1%) HP:0000286
5 dolichocephaly 31 very rare (1%) HP:0000268
6 downslanted palpebral fissures 31 very rare (1%) HP:0000494
7 peripheral neuropathy 31 very rare (1%) HP:0009830
8 severe muscular hypotonia 31 very rare (1%) HP:0006829
9 infantile spasms 31 very rare (1%) HP:0012469
10 intellectual disability, profound 31 very rare (1%) HP:0002187
11 concave nasal ridge 31 very rare (1%) HP:0011120
12 myopathic facies 31 very rare (1%) HP:0002058
13 eeg with burst suppression 31 very rare (1%) HP:0010851
14 small forehead 31 very rare (1%) HP:0000350
15 focal clonic seizure 31 very rare (1%) HP:0002266
16 myoclonic seizure 31 very rare (1%) HP:0032794
17 tonic seizure 31 very rare (1%) HP:0032792

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Ears:
low-set ears
sensorineural hearing loss

Neurologic Peripheral Nervous System:
peripheral neuropathy

Muscle Soft Tissue:
hypotonia
limb edema, non-pitting (in some patients)

Head And Neck Mouth:
high-arched palate

Head And Neck Head:
microcephaly (in some patients)
macrocephaly (in some patients)

Head And Neck Face:
short philtrum
high forehead
myopathic facies
short forehead

Neurologic Central Nervous System:
leukoencephalopathy
cerebral atrophy
epileptic encephalopathy
delayed myelination
thin corpus callosum
more
Head And Neck Eyes:
downslanting palpebral fissures
epicanthal folds
no eye contact

Head And Neck Nose:
saddle nose

Respiratory:
respiratory insufficiency, neonatal

Clinical features from OMIM®:

618663 (Updated 20-May-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 81

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 81

Genetic Tests for Developmental and Epileptic Encephalopathy 81

Genetic tests related to Developmental and Epileptic Encephalopathy 81:

# Genetic test Affiliating Genes
1 Developmental and Epileptic Encephalopathy, 81 29 DMXL2

Anatomical Context for Developmental and Epileptic Encephalopathy 81

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 81:

40
Eye, Liver

Publications for Developmental and Epileptic Encephalopathy 81

Articles related to Developmental and Epileptic Encephalopathy 81:

# Title Authors PMID Year
1
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course. 57 6
31688942 2019
2
Autozygome and high throughput confirmation of disease genes candidacy. 6 57
30237576 2019

Variations for Developmental and Epileptic Encephalopathy 81

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 81:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DMXL2 NM_015263.4(DMXL2):c.6257_6258insTTACATGA (p.Glu2086fs) Insertion Pathogenic 694529 rs1595955503 GRCh37: 15:51773045-51773046
GRCh38: 15:51480848-51480849
2 DMXL2 NM_001174117.2(DMXL2):c.2765-3612C>A SNV Pathogenic 694530 rs1596016716 GRCh37: 15:51790943-51790943
GRCh38: 15:51498746-51498746
3 DMXL2 NM_001174117.2(DMXL2):c.2765-3612C>G SNV Pathogenic 694531 rs1596016716 GRCh37: 15:51790943-51790943
GRCh38: 15:51498746-51498746
4 DMXL2 NM_015263.4(DMXL2):c.5135C>T (p.Ala1712Val) SNV Pathogenic 694532 rs372749193 GRCh37: 15:51780233-51780233
GRCh38: 15:51488036-51488036
5 DMXL2 NM_015263.4(DMXL2):c.7518-1G>A SNV Pathogenic 694533 rs1595908479 GRCh37: 15:51757849-51757849
GRCh38: 15:51465652-51465652

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 81:

72
# Symbol AA change Variation ID SNP ID
1 DMXL2 p.Ala1712Val VAR_083447 rs372749193

Expression for Developmental and Epileptic Encephalopathy 81

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 81.

Pathways for Developmental and Epileptic Encephalopathy 81

GO Terms for Developmental and Epileptic Encephalopathy 81

Sources for Developmental and Epileptic Encephalopathy 81

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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