DEE84
MCID: DVL107
MIFTS: 25

Developmental and Epileptic Encephalopathy 84 (DEE84)

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 84

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 84:

Name: Developmental and Epileptic Encephalopathy 84 57 12
Jamuar Syndrome 57 12 73
Developmental and Epileptic Encephalopathy, 84 29 6
Eiee84 57 73
Dee84 57 12
Epileptic Encephalopathy, Early Ifantile, 84; Eiee84 57
Encephalopathy, Epileptic, Early Infantile, Type 84 39
Epileptic Encephalopathy, Early Infantile, 84 73
Epileptic Encephalopathy, Early Ifantile, 84 57
Early Infantile Epileptic Encephalopathy 84 12

Characteristics:

OMIM®:

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

Miscellaneous:
death in childhood (in some patients)
onset in the first months of life
seizures are usually refractory to medication


HPO:

31
developmental and epileptic encephalopathy 84:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 84

OMIM® : 57 Developmental and epileptic encephalopathy-84 (DEE84) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first months or years of life. Affected individuals have severely impaired global development with impaired intellectual development, absent speech, and inability to walk. Other features include axial hypotonia, peripheral spasticity, feeding difficulties that sometimes necessitate tube feeding, and mild dysmorphic facial features. Brain imaging may show nonspecific findings such as cerebral/cerebellar atrophy and/or hypomyelination. The severity of the disorder is variable (summary by Hengel et al., 2020). For a discussion of genetic heterogeneity of DEE, see 308350. (618792) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 84, is also known as jamuar syndrome. An important gene associated with Developmental and Epileptic Encephalopathy 84 is UGDH (UDP-Glucose 6-Dehydrogenase). Affiliated tissues include eye, and related phenotypes are hyperreflexia and microcephaly

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and inability to walk that has material basis in homozygous or compound heterozygous mutation in UGDH on chromosome 4p14.

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 84: 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. EIEE84 is an autosomal recessive form characterized by onset of refractory seizures in the first months of life.

Related Diseases for Developmental and Epileptic Encephalopathy 84

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 84

Human phenotypes related to Developmental and Epileptic Encephalopathy 84:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 31 very rare (1%) HP:0001347
2 microcephaly 31 very rare (1%) HP:0000252
3 smooth philtrum 31 very rare (1%) HP:0000319
4 thick lower lip vermilion 31 very rare (1%) HP:0000179
5 epicanthus 31 very rare (1%) HP:0000286
6 deeply set eye 31 very rare (1%) HP:0000490
7 areflexia 31 very rare (1%) HP:0001284
8 pointed chin 31 very rare (1%) HP:0000307
9 dystonia 31 very rare (1%) HP:0001332
10 large earlobe 31 very rare (1%) HP:0009748
11 synophrys 31 very rare (1%) HP:0000664
12 plagiocephaly 31 very rare (1%) HP:0001357
13 babinski sign 31 very rare (1%) HP:0003487
14 gastrostomy tube feeding in infancy 31 very rare (1%) HP:0011471
15 generalized hypotonia 31 very rare (1%) HP:0001290
16 short palpebral fissure 31 very rare (1%) HP:0012745
17 muscular hypotonia of the trunk 31 very rare (1%) HP:0008936
18 epileptic encephalopathy 31 very rare (1%) HP:0200134
19 opisthotonus 31 very rare (1%) HP:0002179
20 delayed ability to sit 31 very rare (1%) HP:0025336
21 epileptic spasm 31 very rare (1%) HP:0011097
22 ptosis 31 HP:0000508
23 chorea 31 HP:0002072
24 ventriculomegaly 31 HP:0002119
25 blepharophimosis 31 HP:0000581
26 severe global developmental delay 31 HP:0011344
27 hypsarrhythmia 31 HP:0002521
28 eeg with burst suppression 31 HP:0010851
29 delayed cns myelination 31 HP:0002188

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
spasticity
hyperreflexia
tremor
chorea
more
Head And Neck Face:
short philtrum
pointed chin
flat philtrum
dysmorphic facial features (in some patients)

Head And Neck Ears:
protruding ears

Head And Neck Eyes:
ptosis
blepharophimosis
synophrys
epicanthal folds
deep-set eyes

Abdomen Gastrointestinal:
feeding difficulties
tube feeding

Head And Neck Mouth:
full lower lip

Clinical features from OMIM®:

618792 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 84

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 84

Genetic Tests for Developmental and Epileptic Encephalopathy 84

Genetic tests related to Developmental and Epileptic Encephalopathy 84:

# Genetic test Affiliating Genes
1 Developmental and Epileptic Encephalopathy, 84 29 UGDH

Anatomical Context for Developmental and Epileptic Encephalopathy 84

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 84:

40
Eye

Publications for Developmental and Epileptic Encephalopathy 84

Articles related to Developmental and Epileptic Encephalopathy 84:

# Title Authors PMID Year
1
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. 6 57
32001716 2020

Variations for Developmental and Epileptic Encephalopathy 84

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 84:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 UGDH NM_003359.4(UGDH):c.131C>T (p.Ala44Val) SNV Pathogenic 810659 rs749975104 4:39523002-39523002 4:39521382-39521382
2 UGDH NM_003359.4(UGDH):c.41A>G (p.Tyr14Cys) SNV Pathogenic 810662 rs369608407 4:39523092-39523092 4:39521472-39521472
3 UGDH NM_003359.4(UGDH):c.214T>G (p.Ser72Ala) SNV Pathogenic 810657 rs769243823 4:39515753-39515753 4:39514133-39514133
4 UGDH NM_003359.4(UGDH):c.244G>A (p.Ala82Thr) SNV Pathogenic 810656 rs1578274054 4:39515723-39515723 4:39514103-39514103
5 UGDH NM_003359.4(UGDH):c.193C>T (p.Arg65Ter) SNV Pathogenic 810658 rs200059198 4:39515774-39515774 4:39514154-39514154
6 UGDH NM_003359.4(UGDH):c.1100A>G (p.Tyr367Cys) SNV Pathogenic 810646 rs1578264574 4:39506928-39506928 4:39505308-39505308
7 UGDH NM_003359.4(UGDH):c.950G>A (p.Arg317Gln) SNV Pathogenic 592087 rs775162839 4:39507325-39507325 4:39505705-39505705

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 84:

73
# Symbol AA change Variation ID SNP ID
1 UGDH p.Tyr14Cys VAR_083750
2 UGDH p.Ala44Val VAR_083753 rs749975104
3 UGDH p.Ser72Ala VAR_083755
4 UGDH p.Ala82Thr VAR_083756
5 UGDH p.Tyr367Cys VAR_083767

Expression for Developmental and Epileptic Encephalopathy 84

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 84.

Pathways for Developmental and Epileptic Encephalopathy 84

GO Terms for Developmental and Epileptic Encephalopathy 84

Sources for Developmental and Epileptic Encephalopathy 84

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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