DEE44
MCID: DVL069
MIFTS: 27

Developmental and Epileptic Encephalopathy 44 (DEE44)

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 44

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 44:

Name: Developmental and Epileptic Encephalopathy 44 57 12
Epileptic Encephalopathy, Early Infantile, 44 57 73 29 6
Eiee44 57 73
Dee44 57 12
Epileptic Encephalopathy, Early Infantile, 44; Eiee44 57
Encephalopathy, Epileptic, Early Infantile, Type 44 39
Early Infantile Epileptic Encephalopathy 44 12

Characteristics:

OMIM®:

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

Miscellaneous:
death in childhood (in some patients)
onset in the first weeks or months of life (up to 12 months)


HPO:

31
developmental and epileptic encephalopathy 44:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 44

OMIM® : 57 Developmental and epileptic encephalopathy-44 (DEE44) is an autosomal recessive neurologic disorder characterized by the onset of refractory infantile spasms or myoclonus usually in the first weeks or months of life, up to about 12 months of age. Affected infants may have normal or mildly delayed development before the onset of seizures, but thereafter show developmental stagnation and severe neurologic impairment. EEG in some patients shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Additional features include poor feeding and poor overall growth with microcephaly, axial hypotonia with peripheral hypertonia or spasticity, abnormal movements, limited eye contact, and profoundly impaired intellectual development with absent language. Many patients require tube feeding, and some die in childhood (summary by Muona et al., 2016; Colin et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (617132) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 44, also known as epileptic encephalopathy, early infantile, 44, is related to spinocerebellar ataxia, autosomal recessive 24. An important gene associated with Developmental and Epileptic Encephalopathy 44 is UBA5 (Ubiquitin Like Modifier Activating Enzyme 5). Affiliated tissues include eye, and related phenotypes are spasticity and failure to thrive

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has material basis in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 44: 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. EIEE44 transmission pattern is consistent with autosomal recessive inheritance.

Related Diseases for Developmental and Epileptic Encephalopathy 44

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 44 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 24 9.5 UBA5 NPHP3-ACAD11

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 44

Human phenotypes related to Developmental and Epileptic Encephalopathy 44:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 HP:0001257
2 failure to thrive 31 HP:0001508
3 short stature 31 HP:0004322
4 gastroesophageal reflux 31 HP:0002020
5 intellectual disability, severe 31 HP:0010864
6 absent speech 31 HP:0001344
7 irritability 31 HP:0000737
8 mask-like facies 31 HP:0000298
9 dystonia 31 HP:0001332
10 hypoplasia of the corpus callosum 31 HP:0002079
11 poor eye contact 31 HP:0000817
12 encephalopathy 31 HP:0001298
13 feeding difficulties 31 HP:0011968
14 cerebellar atrophy 31 HP:0001272
15 cerebral atrophy 31 HP:0002059
16 postnatal microcephaly 31 HP:0005484
17 athetosis 31 HP:0002305
18 generalized hypotonia 31 HP:0001290
19 delayed myelination 31 HP:0012448
20 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
spasticity
myoclonus
dystonia
infantile spasms
encephalopathy
more
Growth Height:
short stature

Neurologic Behavioral Psychiatric Manifestations:
irritability

Head And Neck Head:
microcephaly, postnatal

Growth Other:
failure to thrive
poor overall growth

Abdomen Gastrointestinal:
gastroesophageal reflux
poor feeding
tube feeding

Head And Neck Eyes:
poor eye contact
poor visual pursuit

Head And Neck Face:
expressionless face

Clinical features from OMIM®:

617132 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 44

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 44

Genetic Tests for Developmental and Epileptic Encephalopathy 44

Genetic tests related to Developmental and Epileptic Encephalopathy 44:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 44 29 UBA5

Anatomical Context for Developmental and Epileptic Encephalopathy 44

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 44:

40
Eye

Publications for Developmental and Epileptic Encephalopathy 44

Articles related to Developmental and Epileptic Encephalopathy 44:

# Title Authors PMID Year
1
Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy. 57 6
27545674 2016
2
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy. 57 6
27545681 2016

Variations for Developmental and Epileptic Encephalopathy 44

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 44:

6 (show all 19)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NPHP3-ACAD11 NM_024818.4(UBA5):c.503G>A (p.Gly168Glu) SNV Pathogenic 265754 rs886039761 3:132389817-132389817 3:132670973-132670973
2 NPHP3-ACAD11 NM_198329.3(UBA5):c.-5G>A SNV Pathogenic 265746 rs774318611 3:132384669-132384669 3:132665825-132665825
3 NPHP3-ACAD11 NM_001321238.1(UBA5):c.28-2988A>G SNV Pathogenic 265755 rs532178791 3:132384674-132384674 3:132665830-132665830
4 NPHP3-ACAD11 NM_024818.4(UBA5):c.778G>A (p.Val260Met) SNV Pathogenic 265752 rs886039759 3:132390987-132390987 3:132672143-132672143
5 NPHP3-ACAD11 NM_024818.4(UBA5):c.855C>A (p.Tyr285Ter) SNV Pathogenic 265747 rs745968949 3:132394134-132394134 3:132675290-132675290
6 NPHP3-ACAD11 NM_024818.4(UBA5):c.904C>T (p.Gln302Ter) SNV Pathogenic 265750 rs886039757 3:132394183-132394183 3:132675339-132675339
7 NPHP3-ACAD11 NM_024818.4(UBA5):c.1165G>T (p.Asp389Tyr) SNV Pathogenic 265753 rs886039760 3:132395320-132395320 3:132676476-132676476
8 NPHP3-ACAD11 NM_024818.4(UBA5):c.971_972insC (p.Lys324fs) Insertion Pathogenic 265751 rs886039758 3:132394471-132394472 3:132675627-132675628
9 NPHP3-ACAD11 NM_001321238.1(UBA5):c.28-2976C>T SNV Pathogenic 265748 rs886039756 3:132384686-132384686 3:132665842-132665842
10 NPHP3-ACAD11 NM_024818.6(UBA5):c.160dup (p.Ser54fs) Duplication Pathogenic 973257 3:132379540-132379541 3:132660696-132660697
11 NPHP3-ACAD11 NM_024818.4(UBA5):c.562C>T (p.Arg188Ter) SNV Pathogenic 265749 rs374052333 3:132389876-132389876 3:132671032-132671032
12 NPHP3-ACAD11 NM_024818.4(UBA5):c.1111G>A (p.Ala371Thr) SNV Pathogenic 265745 rs114925667 3:132394747-132394747 3:132675903-132675903
13 NPHP3-ACAD11 NM_024818.4(UBA5):c.1111G>A (p.Ala371Thr) SNV Pathogenic 265745 rs114925667 3:132394747-132394747 3:132675903-132675903
14 NPHP3-ACAD11 NM_024818.4(UBA5):c.684G>A (p.Ala228=) SNV Likely pathogenic 489201 rs1313071575 3:132390725-132390725 3:132671881-132671881
15 NPHP3-ACAD11 NM_024818.4(UBA5):c.562C>T (p.Arg188Ter) SNV Likely pathogenic 265749 rs374052333 3:132389876-132389876 3:132671032-132671032
16 NPHP3-ACAD11 NM_024818.5(UBA5):c.215G>A (p.Arg72His) SNV Likely pathogenic 809545 rs150313260 3:132384835-132384835 3:132665991-132665991
17 NPHP3-ACAD11 NM_024818.4(UBA5):c.910G>A (p.Asp304Asn) SNV Likely pathogenic 488630 rs772888455 3:132394189-132394189 3:132675345-132675345
18 NPHP3-ACAD11 NM_024818.4(UBA5):c.907T>C (p.Cys303Arg) SNV Conflicting interpretations of pathogenicity 522846 rs1553770577 3:132394186-132394186 3:132675342-132675342
19 NPHP3-ACAD11 NM_024818.6(UBA5):c.460G>A (p.Val154Met) SNV Uncertain significance 982589 3:132389094-132389094 3:132670250-132670250

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 44:

73
# Symbol AA change Variation ID SNP ID
1 UBA5 p.Arg55His VAR_077153 rs774318611
2 UBA5 p.Met57Val VAR_077154 rs532178791
3 UBA5 p.Gly168Glu VAR_077155 rs886039761
4 UBA5 p.Val260Met VAR_077156 rs886039759
5 UBA5 p.Ala371Thr VAR_077158 rs114925667
6 UBA5 p.Asp389Tyr VAR_077159 rs886039760

Expression for Developmental and Epileptic Encephalopathy 44

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 44.

Pathways for Developmental and Epileptic Encephalopathy 44

GO Terms for Developmental and Epileptic Encephalopathy 44

Sources for Developmental and Epileptic Encephalopathy 44

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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