DEE38
MCID: DVL064
MIFTS: 26

Developmental and Epileptic Encephalopathy 38 (DEE38)

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 38

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 38:

Name: Developmental and Epileptic Encephalopathy 38 57 12
Epileptic Encephalopathy, Early Infantile, 38 57 72 29 6
Early Infantile Epileptic Encephalopathy 38 12 15
Eiee38 57 72
Dee38 57 12
Glycosylphosphatidylinositol Biosynthesis Defect 23; Gpibd23 57
Epileptic Encephalopathy, Early Infantile, 38; Eiee38 57
Glycosylphosphatidylinositol Biosynthesis Defect 23 57
Gpibd23 57

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
progressive disorder
severe disorder
death in early childhood (in some patients)


HPO:

31
developmental and epileptic encephalopathy 38:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0080417
OMIM® 57 617020
OMIM Phenotypic Series 57 PS308350
MeSH 44 D013036

Summaries for Developmental and Epileptic Encephalopathy 38

OMIM® : 57 Developmental and epileptic encephalopathy-38 (DEE38) is an autosomal recessive neurologic and neurodegenerative disorder characterized by the onset of various type of seizures usually between about 4 and 7 months of age. Prior to the onset of seizures, most infants show severely impaired global development, hypotonia with poor head control, and visual inattention with roving eye movements and nystagmus. Seizures are usually refractory to treatment and associated with status epilepticus. Patients have little or no development with inability to walk or speak, spasticity or abnormal movements, and often cortical blindness. There is failure to thrive, and many require tube-feeding. Death in early childhood due to aspiration or intractable epilepsy may occur. The disorder is associated with a defect in GPI-anchoring of membrane-bound proteins (summary by Palmer et al., 2016; Davids et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). (617020) (Updated 05-Apr-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 38, is also known as epileptic encephalopathy, early infantile, 38. An important gene associated with Developmental and Epileptic Encephalopathy 38 is ARV1 (ARV1 Homolog, Fatty Acid Homeostasis Modulator). Affiliated tissues include eye, bone and brain, and related phenotypes are retinal dystrophy and ataxia

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has material basis in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42.

UniProtKB/Swiss-Prot : 72 Epileptic encephalopathy, early infantile, 38: 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. EIEE38 inheritance is autosomal recessive.

Related Diseases for Developmental and Epileptic Encephalopathy 38

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 38

Human phenotypes related to Developmental and Epileptic Encephalopathy 38:

31 (showing 9, show less)
# Description HPO Frequency HPO Source Accession
1 retinal dystrophy 31 occasional (7.5%) HP:0000556
2 ataxia 31 HP:0001251
3 global developmental delay 31 HP:0001263
4 hypertonia 31 HP:0001276
5 dystonia 31 HP:0001332
6 status epilepticus 31 HP:0002133
7 intellectual disability, profound 31 HP:0002187
8 generalized hypotonia 31 HP:0001290
9 epileptic encephalopathy 31 HP:0200134

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
spasticity
ataxia
chorea
absent speech
dystonia
more
Skeletal Spine:
scoliosis

Abdomen Gastrointestinal:
feeding difficulties
tube feeding

Skeletal:
osteopenia (in some patients)
bone defects (in some patients)

Immunology:
elevated ige (family a)

Growth Other:
failure to thrive

Head And Neck Eyes:
nystagmus
retinal dystrophy
hypermetropia
cortical blindness
impaired vision
more
Respiratory Airways:
aspiration

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

Laboratory Abnormalities:
defective gpi-anchor synthesis
increased serum iron (family a)
impaired cholesterol esterification (family a)

Clinical features from OMIM®:

617020 (Updated 05-Apr-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 38

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 38

Genetic Tests for Developmental and Epileptic Encephalopathy 38

Genetic tests related to Developmental and Epileptic Encephalopathy 38:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 38 29 ARV1

Anatomical Context for Developmental and Epileptic Encephalopathy 38

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 38:

40
Eye, Bone, Brain

Publications for Developmental and Epileptic Encephalopathy 38

Articles related to Developmental and Epileptic Encephalopathy 38:

(showing 3, show less)
# Title Authors PMID Year
1
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency. 6 61 57
32165008 2020
2
Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy. 57 6
27270415 2016
3
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 6 57
25558065 2015

Variations for Developmental and Epileptic Encephalopathy 38

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 38:

6 (showing 8, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARV1 NM_022786.3(ARV1):c.294+1G>A SNV Pathogenic 224496 rs150619347 GRCh37: 1:231124186-231124186
GRCh38: 1:230988440-230988440
2 ARV1 NM_022786.3(ARV1):c.565G>A (p.Gly189Arg) SNV Pathogenic 183341 rs730882241 GRCh37: 1:231131622-231131622
GRCh38: 1:230995876-230995876
3 ARV1 NM_022786.3(ARV1):c.*4+1G>A SNV Pathogenic 1034009 GRCh37: 1:231133014-231133014
GRCh38: 1:230997268-230997268
4 ARV1 NM_022786.3(ARV1):c.175-2A>G SNV Likely pathogenic 1028780 GRCh37: 1:231124064-231124064
GRCh38: 1:230988318-230988318
5 ARV1 NM_022786.3(ARV1):c.363_364del (p.Ser122fs) Deletion Likely pathogenic 982604 GRCh37: 1:231125924-231125925
GRCh38: 1:230990178-230990179
6 ARV1 NM_022786.3(ARV1):c.292_294+1del Deletion Uncertain significance 982891 GRCh37: 1:231124183-231124186
GRCh38: 1:230988437-230988440
7 ARV1 NM_022786.3(ARV1):c.674-2A>T SNV Uncertain significance 520804 rs1192627743 GRCh37: 1:231132865-231132865
GRCh38: 1:230997119-230997119
8 ARV1 NM_022786.3(ARV1):c.29A>G (p.Gln10Arg) SNV Uncertain significance 1034010 GRCh37: 1:231114880-231114880
GRCh38: 1:230979134-230979134

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 38:

72 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 ARV1 p.Gly189Arg VAR_077051 rs730882241

Expression for Developmental and Epileptic Encephalopathy 38

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 38.

Pathways for Developmental and Epileptic Encephalopathy 38

GO Terms for Developmental and Epileptic Encephalopathy 38

Sources for Developmental and Epileptic Encephalopathy 38

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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