DEE71
MCID: DVL095
MIFTS: 22

Developmental and Epileptic Encephalopathy 71 (DEE71)

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 71

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 71:

Name: Developmental and Epileptic Encephalopathy 71 57 12
Glutaminase Deficiency with Neonatal Epileptic Encephalopathy 57 12 73
Developmental and Epileptic Encephalopathy, 71 29 6
Epileptic Encephalopathy, Early Infantile, 71 57 73
Eiee71 57 73
Dee71 57 12
Neonatal Epileptic Encephalopathy Due to Glutaminase Deficiency 58
Epileptic Encephalopathy, Early Infantile, 71; Eiee71 57
Early Infantile Epileptic Encephalopathy 71 12

Characteristics:

OMIM®:

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

Miscellaneous:
onset at birth
death in first weeks of life
two unrelated families have been reported (last curated february 2019)


HPO:

31
developmental and epileptic encephalopathy 71:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0112207
OMIM® 57 618328
OMIM Phenotypic Series 57 PS308350
MeSH 44 D013036
Orphanet 58 ORPHA557064

Summaries for Developmental and Epileptic Encephalopathy 71

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 71: 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. EIEE71 is an autosomal recessive form with onset at birth. Death occurs in first weeks of life.

MalaCards based summary : Developmental and Epileptic Encephalopathy 71, also known as glutaminase deficiency with neonatal epileptic encephalopathy, is related to infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development. An important gene associated with Developmental and Epileptic Encephalopathy 71 is GLS (Glutaminase). Affiliated tissues include brain, and related phenotypes are neonatal hypotonia and respiratory failure

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has material basis in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2.

OMIM® : 57 Developmental and epileptic encephalopathy-71 (DEE71) is characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth. Glutamine levels are significantly increased (z score 3.2-11.7). Three patients have been described (summary by Rumping et al., 2019). (618328) (Updated 05-Mar-2021)

Related Diseases for Developmental and Epileptic Encephalopathy 71

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

Diseases related to Developmental and Epileptic Encephalopathy 71 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development 11.3

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 71

Human phenotypes related to Developmental and Epileptic Encephalopathy 71:

31
# Description HPO Frequency HPO Source Accession
1 neonatal hypotonia 31 HP:0001319
2 respiratory failure 31 HP:0002878
3 epileptic encephalopathy 31 HP:0200134
4 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Respiratory:
respiratory insufficiency
respiratory failure

Muscle Soft Tissue:
hypotonia, neonatal, severe

Neurologic Central Nervous System:
epileptic encephalopathy
lack of spontaneous movements
seizures, refractory, early-onset
eeg shows burst-suppression pattern
brain imaging shows simplified gyral structure
more
Laboratory Abnormalities:
newborn guthrie card shows increased glutamine

Clinical features from OMIM®:

618328 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 71

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 71

Genetic Tests for Developmental and Epileptic Encephalopathy 71

Genetic tests related to Developmental and Epileptic Encephalopathy 71:

# Genetic test Affiliating Genes
1 Developmental and Epileptic Encephalopathy, 71 29 GLS

Anatomical Context for Developmental and Epileptic Encephalopathy 71

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 71:

40
Brain

Publications for Developmental and Epileptic Encephalopathy 71

Articles related to Developmental and Epileptic Encephalopathy 71:

# Title Authors PMID Year
1
Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy. 6 57
30575854 2019

Variations for Developmental and Epileptic Encephalopathy 71

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 71:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GLS NM_014905.4(GLS):c.241C>T (p.Gln81Ter) SNV Pathogenic 618997 rs1559310284 2:191746051-191746051 2:190881325-190881325
2 GLS NM_014905.4(GLS):c.815G>A (p.Arg272Lys) SNV Pathogenic 618998 rs1558972120 2:191766752-191766752 2:190902026-190902026
3 GLS NM_001256310.2(GLS):c.695dup (p.Asp232fs) Duplication Uncertain significance 618996 rs1558971345 2:191765378-191765379 2:190900652-190900653

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 71:

73
# Symbol AA change Variation ID SNP ID
1 GLS p.Arg272Lys VAR_081972 rs155897212

Expression for Developmental and Epileptic Encephalopathy 71

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 71.

Pathways for Developmental and Epileptic Encephalopathy 71

GO Terms for Developmental and Epileptic Encephalopathy 71

Sources for Developmental and Epileptic Encephalopathy 71

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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