DEE91
MCID: DVL114
MIFTS: 26

Developmental and Epileptic Encephalopathy 91 (DEE91)

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 91

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 91:

Name: Developmental and Epileptic Encephalopathy 91 57 12 29
Epileptic Encephalopathy, Infantile or Early Childhood, 1 57 72
Iecee1 57 72
Epileptic Encephalopathy, Infantile or Early Childhood, 1; Iecee1 57
Encephalopathy, Epileptic, Infantile or Early Childhood, Type 1 39
Epileptic Encephalopathy, Infantile or Early Childhood 1 6
Infantile or Early Childhood Epileptic Encephalopathy 1 12
Dee91 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset of developmental delay in infancy
onset of seizures between first weeks and first years of life


HPO:

31
developmental and epileptic encephalopathy 91:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 91

OMIM® : 57 Developmental and epileptic encephalopathy-91 (DEE91) is characterized by delayed psychomotor development apparent in infancy and resulting in severely to profoundly impaired intellectual development with poor or absent speech. Most patients never achieve independent walking. Patients typically have onset of refractory multifocal seizures between the first weeks and years of life, and some may show developmental regression. Additional features, such as hypotonia and cortical visual impairment, are more variable (summary by Myers et al., 2017). For a discussion of genetic heterogeneity of DEE, see 308350. (617711) (Updated 05-Apr-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 91, is also known as epileptic encephalopathy, infantile or early childhood, 1. An important gene associated with Developmental and Epileptic Encephalopathy 91 is PPP3CA (Protein Phosphatase 3 Catalytic Subunit Alpha). Affiliated tissues include brain, and related phenotypes are spasticity and cerebral visual impairment

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has material basis in heterozygous mutation in the PPP3CA gene on chromosome 4q24.

UniProtKB/Swiss-Prot : 72 Epileptic encephalopathy, infantile or early childhood, 1: A form of epileptic encephalopathy, a heterogeneous group of severe childhood 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. IECEE1 is an autosomal dominant condition with onset of seizures between the first weeks and first years of life.

Related Diseases for Developmental and Epileptic Encephalopathy 91

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 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

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 91

Human phenotypes related to Developmental and Epileptic Encephalopathy 91:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 very rare (1%) HP:0001257
2 cerebral visual impairment 31 very rare (1%) HP:0100704
3 intellectual disability 31 HP:0001249
4 developmental regression 31 HP:0002376
5 global developmental delay 31 HP:0001263
6 hypertelorism 31 HP:0000316
7 absent speech 31 HP:0001344
8 talipes 31 HP:0001883
9 feeding difficulties 31 HP:0011968
10 cerebral atrophy 31 HP:0002059
11 generalized hypotonia 31 HP:0001290
12 unsteady gait 31 HP:0002317
13 hypsarrhythmia 31 HP:0002521
14 multifocal epileptiform discharges 31 HP:0010841
15 epileptic encephalopathy 31 HP:0200134
16 delayed myelination 31 HP:0012448
17 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
developmental regression
cerebral atrophy
unsteady gait
hypsarrhythmia
epileptic encephalopathy
more
Skeletal Feet:
talipes

Neurologic Behavioral Psychiatric Manifestations:
behavioral abnormalities
autistic features

Head And Neck Eyes:
hypertelorism
cortical visual impairment (in some patients)

Muscle Soft Tissue:
hypotonia

Abdomen Gastrointestinal:
poor feeding

Clinical features from OMIM®:

617711 (Updated 05-Apr-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 91

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 91

Genetic Tests for Developmental and Epileptic Encephalopathy 91

Genetic tests related to Developmental and Epileptic Encephalopathy 91:

# Genetic test Affiliating Genes
1 Developmental and Epileptic Encephalopathy 91 29 PPP3CA

Anatomical Context for Developmental and Epileptic Encephalopathy 91

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 91:

40
Brain

Publications for Developmental and Epileptic Encephalopathy 91

Articles related to Developmental and Epileptic Encephalopathy 91:

# Title Authors PMID Year
1
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. 6 57
29432562 2018
2
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. 57 6
28942967 2017
3
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability. 6
32238909 2020
4
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 57
25590979 2015
5
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 57
25262651 2014
6
Clinical and Genetic Study on a Chinese Patient with Infantile Onset Epileptic Encephalopathy carrying a PPP3CA Null Variant: a case report. 61
32593294 2020

Variations for Developmental and Epileptic Encephalopathy 91

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 91:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PPP3CA NM_000944.5(PPP3CA):c.843C>G (p.His281Gln) SNV Pathogenic 441274 rs199706529 GRCh37: 4:102004360-102004360
GRCh38: 4:101083203-101083203
2 PPP3CA NM_000944.5(PPP3CA):c.1333C>T (p.Gln445Ter) SNV Pathogenic 441271 rs1553920376 GRCh37: 4:101953430-101953430
GRCh38: 4:101032273-101032273
3 PPP3CA NM_000944.5(PPP3CA):c.275A>G (p.His92Arg) SNV Pathogenic 441272 rs1553925558 GRCh37: 4:102030220-102030220
GRCh38: 4:101109063-101109063
4 PPP3CA NM_000944.5(PPP3CA):c.844G>A (p.Glu282Lys) SNV Pathogenic 441275 rs1553923787 GRCh37: 4:102004359-102004359
GRCh38: 4:101083202-101083202
5 PPP3CA NM_000944.5(PPP3CA):c.1339G>A (p.Ala447Thr) SNV Pathogenic 441273 rs1553920374 GRCh37: 4:101953424-101953424
GRCh38: 4:101032267-101032267
6 PPP3CA NM_000944.5(PPP3CA):c.1308_1311dup (p.Ser438fs) Duplication Pathogenic 522802 rs1553920379 GRCh37: 4:101953451-101953452
GRCh38: 4:101032294-101032295
7 PPP3CA NM_000944.5(PPP3CA):c.1290dup (p.Met431fs) Duplication Pathogenic 599239 rs1560570541 GRCh37: 4:101953472-101953473
GRCh38: 4:101032315-101032316
8 PPP3CA NM_000944.5(PPP3CA):c.1311_1315del (p.Ser438fs) Deletion Pathogenic 802080 rs1578388765 GRCh37: 4:101953448-101953452
GRCh38: 4:101032291-101032295
9 PPP3CA NM_000944.5(PPP3CA):c.1477G>A (p.Asp493Asn) SNV Likely pathogenic 812184 GRCh37: 4:101947111-101947111
GRCh38: 4:101025954-101025954
10 PPP3CA NM_000944.5(PPP3CA):c.1283dup (p.Thr429fs) Duplication Likely pathogenic 931475 GRCh37: 4:101953479-101953480
GRCh38: 4:101032322-101032323
11 PPP3CA NM_000944.5(PPP3CA):c.1253_1254AG[1] (p.Ser419fs) Microsatellite Likely pathogenic 496636 rs1553920383 GRCh37: 4:101953507-101953508
GRCh38: 4:101032350-101032351

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 91:

72
# Symbol AA change Variation ID SNP ID
1 PPP3CA p.His92Arg VAR_080348 rs155392555
2 PPP3CA p.His281Gln VAR_080349 rs199706529
3 PPP3CA p.Glu282Lys VAR_080350 rs155392378
4 PPP3CA p.Asn150Ile VAR_081900
5 PPP3CA p.Asp234Glu VAR_081901

Expression for Developmental and Epileptic Encephalopathy 91

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 91.

Pathways for Developmental and Epileptic Encephalopathy 91

GO Terms for Developmental and Epileptic Encephalopathy 91

Sources for Developmental and Epileptic Encephalopathy 91

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