DEE89
MCID: DVL112
MIFTS: 24

Developmental and Epileptic Encephalopathy 89 (DEE89)

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 89

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 89:

Name: Developmental and Epileptic Encephalopathy 89 57 12 6
Dee89 57 12
Early Infantile Epileptic Encephalopathy 89 12

Characteristics:

OMIM®:

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

Miscellaneous:
onset at birth
death in childhood (in some patients)
vigabatrin treatment may control seizures


HPO:

31
developmental and epileptic encephalopathy 89:
Onset and clinical course neonatal death infantile onset neonatal onset death in childhood
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 89

OMIM® : 57 Developmental and epileptic encephalopathy-89 (DEE89) is a severe autosomal recessive disorder characterized by profound global developmental delay with impaired intellectual development, absent speech, inability to sit or walk due to axial hypotonia and spastic quadriparesis, and onset of seizures in the first days or months of life. EEG shows suppression-burst pattern or hypsarrhythmia, consistent with DEE or a clinical diagnosis of West syndrome. More variable features include joint contractures with foot deformities, dysmorphic facial features with cleft palate, and omphalocele. Affected individuals have poor motor skills, poor eye contact, and lack of language development; some die in infancy or early childhood. Brain imaging may be normal or show nonspecific abnormalities (summary by Chatron et al., 2020). (619124) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 89, is also known as dee89. An important gene associated with Developmental and Epileptic Encephalopathy 89 is GAD1 (Glutamate Decarboxylase 1). Affiliated tissues include eye and brain, and related phenotypes are macrocephaly and spasticity

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypotonia, and spastic quadriparesis that has material basis in homozygous or compound heterozygous mutation in GAD1 on chromosome 2q31.1.

Related Diseases for Developmental and Epileptic Encephalopathy 89

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 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 57 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 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

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 89

Human phenotypes related to Developmental and Epileptic Encephalopathy 89:

31 (show all 42)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 very rare (1%) HP:0000256
2 spasticity 31 very rare (1%) HP:0001257
3 hyperreflexia 31 very rare (1%) HP:0001347
4 scoliosis 31 very rare (1%) HP:0002650
5 global developmental delay 31 very rare (1%) HP:0001263
6 depressed nasal bridge 31 very rare (1%) HP:0005280
7 hypertelorism 31 very rare (1%) HP:0000316
8 wide nasal bridge 31 very rare (1%) HP:0000431
9 smooth philtrum 31 very rare (1%) HP:0000319
10 anteverted nares 31 very rare (1%) HP:0000463
11 flexion contracture 31 very rare (1%) HP:0001371
12 cleft palate 31 very rare (1%) HP:0000175
13 flat face 31 very rare (1%) HP:0012368
14 low-set ears 31 very rare (1%) HP:0000369
15 talipes equinovarus 31 very rare (1%) HP:0001762
16 downslanted palpebral fissures 31 very rare (1%) HP:0000494
17 upslanted palpebral fissure 31 very rare (1%) HP:0000582
18 highly arched eyebrow 31 very rare (1%) HP:0002553
19 thin upper lip vermilion 31 very rare (1%) HP:0000219
20 long philtrum 31 very rare (1%) HP:0000343
21 dystonia 31 very rare (1%) HP:0001332
22 narrow chest 31 very rare (1%) HP:0000774
23 microretrognathia 31 very rare (1%) HP:0000308
24 omphalocele 31 very rare (1%) HP:0001539
25 hypoplastic labia majora 31 very rare (1%) HP:0000059
26 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
27 cerebellar atrophy 31 very rare (1%) HP:0001272
28 sparse eyebrow 31 very rare (1%) HP:0045075
29 intellectual disability, profound 31 very rare (1%) HP:0002187
30 cerebral atrophy 31 very rare (1%) HP:0002059
31 tetraparesis 31 very rare (1%) HP:0002273
32 limb undergrowth 31 very rare (1%) HP:0009826
33 muscular hypotonia of the trunk 31 very rare (1%) HP:0008936
34 hypsarrhythmia 31 very rare (1%) HP:0002521
35 hypoplastic labia minora 31 very rare (1%) HP:0000064
36 clitoral hypertrophy 31 very rare (1%) HP:0008665
37 hyperkinetic movements 31 very rare (1%) HP:0002487
38 eeg with burst suppression 31 very rare (1%) HP:0010851
39 asymmetry of the ears 31 very rare (1%) HP:0010722
40 epileptic spasm 31 very rare (1%) HP:0011097
41 myoclonic seizure 31 very rare (1%) HP:0032794
42 bilateral tonic-clonic seizure with generalized onset 31 very rare (1%) HP:0025190

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
hyperreflexia
hypertonia
absent speech
infantile spasms
more
Skeletal Spine:
scoliosis

Head And Neck Nose:
depressed nasal bridge
anteverted nares
broad nasal bridge

Head And Neck Face:
smooth philtrum
flat face
microretrognathia
midface hypoplasia
bitemporal narrowing
more
Head And Neck Mouth:
cleft palate
thin upper lip
high-arched palate

Skeletal Feet:
pes cavus
foot deformities
rocker bottom feet

Skeletal Hands:
camptodactyly
adducted thumbs
short distal phalanges
small hands
prominent digital pads

Skeletal:
contractures

Head And Neck Head:
plagiocephaly (in some patients)

Growth Other:
failure to thrive
poor overall growth

Head And Neck Eyes:
nystagmus
hypertelorism
downslanting palpebral fissures
squint
poor or absent visual contact

Abdomen External Features:
umbilical hernia
omphalocele (in some patients)

Chest External Features:
short thorax

Skin Nails Hair Skin:
hemangioma

Skin Nails Hair Hair:
hirsutism
frontal upsweep

Head And Neck Ears:
dysmorphic ears

Skeletal Limbs:
contractures

Clinical features from OMIM®:

619124 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 89

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 89

Genetic Tests for Developmental and Epileptic Encephalopathy 89

Anatomical Context for Developmental and Epileptic Encephalopathy 89

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 89:

40
Eye, Brain

Publications for Developmental and Epileptic Encephalopathy 89

Articles related to Developmental and Epileptic Encephalopathy 89:

# Title Authors PMID Year
1
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. 6 57
32282878 2020
2
Cleft palate and decreased brain gamma-aminobutyric acid in mice lacking the 67-kDa isoform of glutamic acid decarboxylase. 57
9177246 1997

Variations for Developmental and Epileptic Encephalopathy 89

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 89:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GAD1 NM_000817.3(GAD1):c.1414-1G>C SNV Pathogenic 988956 2:171713527-171713527 2:170857017-170857017
2 GAD1 NM_000817.3(GAD1):c.692AGA[1] (p.Lys232del) Microsatellite Pathogenic 988957 2:171700607-171700609 2:170844097-170844099
3 GAD1 NM_000817.3(GAD1):c.812_816del (p.Val271fs) Deletion Pathogenic 988958 2:171702073-171702077 2:170845563-170845567
4 GAD1 NM_000817.3(GAD1):c.1591C>T (p.Arg531Ter) SNV Pathogenic 988959 2:171715383-171715383 2:170858873-170858873
5 GAD1 NM_000817.3(GAD1):c.1525G>A (p.Glu509Lys) SNV Pathogenic 988960 2:171715317-171715317 2:170858807-170858807

Expression for Developmental and Epileptic Encephalopathy 89

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 89.

Pathways for Developmental and Epileptic Encephalopathy 89

GO Terms for Developmental and Epileptic Encephalopathy 89

Sources for Developmental and Epileptic Encephalopathy 89

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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