DEE85
MCID: DVL031
MIFTS: 26

Developmental and Epileptic Encephalopathy 85 with or Without Midline Brain Defects (DEE85)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Developmental and Epileptic Encephalopathy 85 with or Without...

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 85 with or Without Midline Brain Defects:

Name: Developmental and Epileptic Encephalopathy 85 with or Without Midline Brain Defects 57
Developmental and Epileptic Encephalopathy, 85, with or Without Midline Brain Defects 29 6
Epileptic Encephalopathy, Early Infantile, 85, with or Without Midline Brain Defects 57 72
Eiee85 57 72
Epileptic Encephalopathy, Early Infantile, 85, with or Without Midline Brain Defects; Eiee85 57
Developmental and Epileptic Encephalopathy 85, with or Without Midline Brain Defects 57
Dee85 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
de novo mutation
seizures are usually refractory
onset of seizures in the first months or years of life
seizures tend to occur in clusters
only females are affected

Inheritance:
x-linked dominant


HPO:

31
developmental and epileptic encephalopathy 85 with or without midline brain defects:
Onset and clinical course congenital onset seizure cluster
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 85 with or Without...

OMIM® : 57 Developmental and epileptic encephalopathy-85 with or without midline brain defects (DEE85) is an X-linked neurologic disorder characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features. The seizures tend to show a cyclic pattern with clustering. Many patients have midline brain defects on brain imaging, including thin corpus callosum and/or variable forms of holoprosencephaly (HPE). The severity and clinical manifestations are variable. Almost all reported patients are females with de novo mutations predicted to result in a loss of function (LOF). However, some patients may show skewed X inactivation, and the pathogenic mechanism may be due to a dominant-negative effect. The SMC1A protein is part of the multiprotein cohesin complex involved in chromatid cohesion during DNA replication and transcriptional regulation; DEE85 can thus be classified as a 'cohesinopathy' (summary by Symonds et al., 2017 and Kruszka et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (301044) (Updated 05-Apr-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 85 with or Without Midline Brain Defects, is also known as developmental and epileptic encephalopathy, 85, with or without midline brain defects. An important gene associated with Developmental and Epileptic Encephalopathy 85 with or Without Midline Brain Defects is SMC1A (Structural Maintenance Of Chromosomes 1A). Affiliated tissues include brain, eye and heart, and related phenotypes are scoliosis and hip dysplasia

UniProtKB/Swiss-Prot : 72 Epileptic encephalopathy, early infantile, 85, with or without midline brain defects: An X-linked 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. EIEE85 is characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features. Many patients have midline brain defects on brain imaging.

Related Diseases for Developmental and Epileptic Encephalopathy 85 with or Without...

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 85 with or Without...

Human phenotypes related to Developmental and Epileptic Encephalopathy 85 with or Without Midline Brain Defects:

31 (showing 60, show less)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 very rare (1%) HP:0002650
2 hip dysplasia 31 very rare (1%) HP:0001385
3 widely spaced teeth 31 very rare (1%) HP:0000687
4 short nose 31 very rare (1%) HP:0003196
5 microcephaly 31 very rare (1%) HP:0000252
6 smooth philtrum 31 very rare (1%) HP:0000319
7 anteverted nares 31 very rare (1%) HP:0000463
8 gastroesophageal reflux 31 very rare (1%) HP:0002020
9 stereotypy 31 very rare (1%) HP:0000733
10 absent speech 31 very rare (1%) HP:0001344
11 cleft palate 31 very rare (1%) HP:0000175
12 intrauterine growth retardation 31 very rare (1%) HP:0001511
13 retrognathia 31 very rare (1%) HP:0000278
14 atrial septal defect 31 very rare (1%) HP:0001631
15 dental crowding 31 very rare (1%) HP:0000678
16 downslanted palpebral fissures 31 very rare (1%) HP:0000494
17 upslanted palpebral fissure 31 very rare (1%) HP:0000582
18 downturned corners of mouth 31 very rare (1%) HP:0002714
19 overfolded helix 31 very rare (1%) HP:0000396
20 facial asymmetry 31 very rare (1%) HP:0000324
21 choanal atresia 31 very rare (1%) HP:0000453
22 talipes 31 very rare (1%) HP:0001883
23 highly arched eyebrow 31 very rare (1%) HP:0002553
24 thin upper lip vermilion 31 very rare (1%) HP:0000219
25 deeply set eye 31 very rare (1%) HP:0000490
26 low anterior hairline 31 very rare (1%) HP:0000294
27 short philtrum 31 very rare (1%) HP:0000322
28 ventricular septal defect 31 very rare (1%) HP:0001629
29 congenital diaphragmatic hernia 31 very rare (1%) HP:0000776
30 round face 31 very rare (1%) HP:0000311
31 severe global developmental delay 31 very rare (1%) HP:0011344
32 small hand 31 very rare (1%) HP:0200055
33 hypotelorism 31 very rare (1%) HP:0000601
34 midface retrusion 31 very rare (1%) HP:0011800
35 triangular face 31 very rare (1%) HP:0000325
36 synophrys 31 very rare (1%) HP:0000664
37 tapered finger 31 very rare (1%) HP:0001182
38 infantile spasms 31 very rare (1%) HP:0012469
39 short foot 31 very rare (1%) HP:0001773
40 single median maxillary incisor 31 very rare (1%) HP:0006315
41 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
42 poor eye contact 31 very rare (1%) HP:0000817
43 spastic tetraparesis 31 very rare (1%) HP:0001285
44 posteriorly rotated ears 31 very rare (1%) HP:0000358
45 hirsutism 31 very rare (1%) HP:0001007
46 generalized hypotonia 31 very rare (1%) HP:0001290
47 muscular hypotonia of the trunk 31 very rare (1%) HP:0008936
48 hypsarrhythmia 31 very rare (1%) HP:0002521
49 clinodactyly 31 very rare (1%) HP:0030084
50 narrow forehead 31 very rare (1%) HP:0000341
51 broad hallux 31 very rare (1%) HP:0010055
52 contracture of the proximal interphalangeal joint of the 3rd finger 31 very rare (1%) HP:0009471
53 unilateral ptosis 31 very rare (1%) HP:0007687
54 narrow nose 31 very rare (1%) HP:0000460
55 multifocal seizures 31 very rare (1%) HP:0031165
56 partial anomalous pulmonary venous return 31 very rare (1%) HP:0010773
57 delayed ability to walk 31 very rare (1%) HP:0031936
58 semilobar holoprosencephaly 31 very rare (1%) HP:0002507
59 bilateral tonic-clonic seizure 31 very rare (1%) HP:0002069
60 1-2 toe syndactyly 31 very rare (1%) HP:0010711

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
vertebral anomalies

Head And Neck Nose:
depressed nasal bridge
short nose
thin nose

Head And Neck Face:
smooth philtrum
full cheeks
retrognathia
short philtrum
round face
more
Abdomen Gastrointestinal:
gastroesophageal reflux
poor feeding
tube feeding

Head And Neck Ears:
low-set ears
posteriorly rotated ears
small ears

Head And Neck Eyes:
blepharophimosis
hypotelorism
synophrys
long eyelashes
deep-set eyes
more
Cardiovascular Heart:
patent foramen ovale
congenital heart defects (in some patients)
septal defects

Growth Other:
poor overall growth

Neurologic Central Nervous System:
developmental regression
global developmental delay
holoprosencephaly
cerebellar hypoplasia
status epilepticus
more
Head And Neck Head:
microcephaly
sloping forehead

Growth Height:
short stature

Head And Neck Mouth:
cleft palate
thin upper lip

Skin Nails Hair Hair:
low anterior hairline
hirsutism

Skeletal Hands:
camptodactyly
clinodactyly
small hands

Head And Neck Teeth:
crowded teeth
single central incisor

Skeletal Feet:
small feet

Clinical features from OMIM®:

301044 (Updated 05-Apr-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 85 with or Without...

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 85 with or Without Midline Brain Defects

Genetic Tests for Developmental and Epileptic Encephalopathy 85 with or Without...

Genetic tests related to Developmental and Epileptic Encephalopathy 85 with or Without Midline Brain Defects:

# Genetic test Affiliating Genes
1 Developmental and Epileptic Encephalopathy, 85, with or Without Midline Brain Defects 29 SMC1A

Anatomical Context for Developmental and Epileptic Encephalopathy 85 with or Without...

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 85 with or Without Midline Brain Defects:

40
Brain, Eye, Heart

Publications for Developmental and Epileptic Encephalopathy 85 with or Without...

Articles related to Developmental and Epileptic Encephalopathy 85 with or Without Midline Brain Defects:

(showing 6, show less)
# Title Authors PMID Year
1
Cohesin complex-associated holoprosencephaly. 6 57
31334757 2019
2
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases. 6 57
28166369 2017
3
De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum. 57 6
26752331 2016
4
Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A. 57 6
26358754 2015
5
Novel SMC1A frameshift mutations in children with developmental delay and epilepsy. 6 57
26386245 2015
6
A case of cohesinopathy with a novel de-novo SMC1A splice site mutation. 57
23863341 2013

Variations for Developmental and Epileptic Encephalopathy 85 with or Without...

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 85 with or Without Midline Brain Defects:

6 (showing 10, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMC1A NM_006306.4(SMC1A):c.1911+1G>T SNV Pathogenic 864840 GRCh37: X:53432424-53432424
GRCh38: X:53405492-53405492
2 SMC1A NM_006306.4(SMC1A):c.3549_3552dup (p.Ile1185fs) Duplication Pathogenic 208627 rs863225459 GRCh37: X:53407606-53407607
GRCh38: X:53380685-53380686
3 SMC1A NM_006306.4(SMC1A):c.2364del (p.Asn788fs) Deletion Pathogenic 864843 GRCh37: X:53430554-53430554
GRCh38: X:53403622-53403622
4 SMC1A NM_006306.4(SMC1A):c.2197G>T (p.Glu733Ter) SNV Pathogenic 864844 GRCh37: X:53430825-53430825
GRCh38: X:53403893-53403893
5 SMC1A NM_006306.4(SMC1A):c.2477del (p.Asn826fs) Deletion Pathogenic 864845 GRCh37: X:53426596-53426596
GRCh38: X:53399674-53399674
6 SMC1A NM_006306.4(SMC1A):c.3115C>T (p.Gln1039Ter) SNV Pathogenic 864846 GRCh37: X:53410033-53410033
GRCh38: X:53383112-53383112
7 SMC1A NM_006306.4(SMC1A):c.2683C>G (p.Arg895Gly) SNV Pathogenic 864847 GRCh37: X:53423417-53423417
GRCh38: X:53396497-53396497
8 SMC1A NM_006306.4(SMC1A):c.2394del (p.Lys798fs) Deletion Pathogenic 864848 GRCh37: X:53430524-53430524
GRCh38: X:53403592-53403592
9 SMC1A NM_006306.4(SMC1A):c.2853_2856del (p.Ser951fs) Deletion Pathogenic 208626 rs863225458 GRCh37: X:53423153-53423156
GRCh38: X:53396233-53396236
10 SMC1A NM_006306.4(SMC1A):c.1342_1348del (p.Ser448fs) Deletion Likely pathogenic 973949 GRCh37: X:53436190-53436196
GRCh38: X:53409259-53409265

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 85 with or Without Midline Brain Defects:

72 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 SMC1A p.Arg895Gly VAR_083975

Expression for Developmental and Epileptic Encephalopathy 85 with or Without...

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 85 with or Without Midline Brain Defects.

Pathways for Developmental and Epileptic Encephalopathy 85 with or Without...

GO Terms for Developmental and Epileptic Encephalopathy 85 with or Without...

Sources for Developmental and Epileptic Encephalopathy 85 with or Without...

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
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32 ICD10
33 ICD10 via Orphanet
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45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
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69 Tocris
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71 UMLS via Orphanet
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