DEE25
MCID: DVL051
MIFTS: 38

Developmental and Epileptic Encephalopathy 25, with Amelogenesis Imperfecta (DEE25)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Developmental and Epileptic Encephalopathy 25, with Amelogenesis...

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 25, with Amelogenesis Imperfecta:

Name: Developmental and Epileptic Encephalopathy 25, with Amelogenesis Imperfecta 57 12
Early Infantile Epileptic Encephalopathy 25 12 20 15
Eiee25 57 20 73
Epileptic Encephalopathy, Early Infantile, 25, with Amelogenesis Imperfecta 57 73
Epileptic Encephalopathy, Early Infantile, 25 29 6
Dee25 57 12
Epileptic Encephalopathy, Early Infantile, 25, with Amelogenesis Imperfecta; Eiee25 57
Encephalopathy, Epileptic, Early Infantile, Type 25 39
Developmental and Epileptic Encephalopathy 25 12
Slc13a5 Deficiency 20

Characteristics:

OMIM®:

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

Miscellaneous:
onset in the first hours or days of life
seizures are poorly responsive to treatment
ketogenic diet may be effective
seizure severity and frequency tend to improve with age


HPO:

31
developmental and epileptic encephalopathy 25, with amelogenesis imperfecta:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080453
OMIM® 57 615905
OMIM Phenotypic Series 57 PS308350
MeSH 44 D013036

Summaries for Developmental and Epileptic Encephalopathy 25, with Amelogenesis...

OMIM® : 57 Developmental and epileptic encephalopathy-25 (DEE25) is an autosomal recessive neurologic disorder characterized by the onset of refractory seizures in early infancy. Most patients present with seizures in the neonatal period, which is often associated with status epilepticus. However, there is phenotypic variability, and some patients have onset of seizures later in infancy. Affected individuals show global developmental delay with intellectual disability and poor speech and communication. The seizures may remit somewhat with age, but there are persistent neurologic symptoms, including ataxia, spasticity, and abnormal involuntary movements. In addition to neurologic deficits, patients also have dental anomalies with amelogenesis imperfecta (summary by Thevenon et al., 2014 and Schossig et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (615905) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 25, with Amelogenesis Imperfecta, also known as early infantile epileptic encephalopathy 25, is related to early infantile epileptic encephalopathy and amelogenesis imperfecta, and has symptoms including ataxia, muscle spasticity and tonic seizures. An important gene associated with Developmental and Epileptic Encephalopathy 25, with Amelogenesis Imperfecta is SLC13A5 (Solute Carrier Family 13 Member 5). The drugs Sodium citrate and Citric acid have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotypes are spasticity and ataxia

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has material basis in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13.

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta: An autosomal recessive disease characterized by subclinical seizures appearing in the first days of life, evolving to severe epileptic disease. Affected individuals have profound or severe delayed development with lack of speech, and most patients do not acquire the ability to sit. Additional variable features include axial hypotonia, peripheral hypertonia, and abnormal involuntary movements such as dystonia and choreoathetosis. Dental abnormalities, including delayed eruption, hypodontia, tooth hypoplasia, yellow discoloration, thin enamel, and enamel chipping are observed in most patients.

Related Diseases for Developmental and Epileptic Encephalopathy 25, with Amelogenesis...

Graphical network of the top 20 diseases related to Developmental and Epileptic Encephalopathy 25, with Amelogenesis Imperfecta:



Diseases related to Developmental and Epileptic Encephalopathy 25, with Amelogenesis Imperfecta

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 25, with Amelogenesis...

Human phenotypes related to Developmental and Epileptic Encephalopathy 25, with Amelogenesis Imperfecta:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 HP:0001257
2 ataxia 31 HP:0001251
3 global developmental delay 31 HP:0001263
4 microcephaly 31 HP:0000252
5 delayed eruption of teeth 31 HP:0000684
6 hypodontia 31 HP:0000668
7 involuntary movements 31 HP:0004305
8 status epilepticus 31 HP:0002133
9 abnormality of the cerebral white matter 31 HP:0002500
10 generalized hypotonia 31 HP:0001290
11 amelogenesis imperfecta 31 HP:0000705
12 muscular hypotonia of the trunk 31 HP:0008936
13 epileptic encephalopathy 31 HP:0200134
14 delayed myelination 31 HP:0012448
15 multifocal seizures 31 HP:0031165

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
spasticity
ataxia
status epilepticus
epileptic encephalopathy
delayed myelination
more
Head And Neck Teeth:
hypodontia
amelogenesis imperfecta, hypoplastic
hypoplastic enamel
delayed eruption
worn molars
more
Head And Neck Head:
microcephaly

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM®:

615905 (Updated 05-Mar-2021)

UMLS symptoms related to Developmental and Epileptic Encephalopathy 25, with Amelogenesis Imperfecta:


ataxia, muscle spasticity, tonic seizures

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 25, with Amelogenesis...

Drugs for Developmental and Epileptic Encephalopathy 25, with Amelogenesis Imperfecta (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational 68-04-2
2
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
3 Citrate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 SLC13A5 Deficiency: A Prospective Natural History Study - Remote Only (International) Recruiting NCT04681781

Search NIH Clinical Center for Developmental and Epileptic Encephalopathy 25, with Amelogenesis Imperfecta

Genetic Tests for Developmental and Epileptic Encephalopathy 25, with Amelogenesis...

Genetic tests related to Developmental and Epileptic Encephalopathy 25, with Amelogenesis Imperfecta:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 25 29 SLC13A5

Anatomical Context for Developmental and Epileptic Encephalopathy 25, with Amelogenesis...

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 25, with Amelogenesis Imperfecta:

40
Brain

Publications for Developmental and Epileptic Encephalopathy 25, with Amelogenesis...

Articles related to Developmental and Epileptic Encephalopathy 25, with Amelogenesis Imperfecta:

# Title Authors PMID Year
1
SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome. 57 6
27600704 2017
2
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia. 6 57
26384929 2015
3
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life. 6 57
24995870 2014
4
Punctate white matter lesions in full-term infants with neonatal seizures associated with SLC13A5 mutations. 57
27913086 2017
5
Kohlschütter-Tönz syndrome in siblings without ROGDI mutation. 57
25284547 2014
6
Consequences of NaCT/SLC13A5/mINDY deficiency: good versus evil, separated only by the blood-brain barrier. 61
33544126 2021
7
Functional Distinction between Human and Mouse Sodium-Coupled Citrate Transporters and Its Biologic Significance: An Attempt for Structural Basis Using a Homology Modeling Approach. 61
33040525 2020
8
Epilepsy and EEG Phenotype of SLC13A5 Citrate Transporter Disorder. 61
32551328 2020

Variations for Developmental and Epileptic Encephalopathy 25, with Amelogenesis...

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 25, with Amelogenesis Imperfecta:

6 (show top 50) (show all 169)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC13A5 NM_177550.4(SLC13A5):c.1207_1217dup (p.Pro407fs) Duplication Pathogenic 218172 rs863225447 17:6596420-6596421 17:6693101-6693102
2 SLC13A5 NM_177550.4(SLC13A5):c.1280C>T (p.Ser427Leu) SNV Pathogenic 218170 rs548065551 17:6594255-6594255 17:6690936-6690936
3 SLC13A5 NM_177550.4(SLC13A5):c.1022G>A (p.Trp341Ter) SNV Pathogenic 218171 rs150203483 17:6599078-6599078 17:6695759-6695759
4 SLC13A5 NM_001143838.3(SLC13A5):c.1438-1196G>C SNV Pathogenic 218174 rs863225448 17:6590853-6590853 17:6687534-6687534
5 SLC13A5 NM_177550.4(SLC13A5):c.308G>A (p.Trp103Ter) SNV Pathogenic 652323 rs1597676674 17:6610021-6610021 17:6706702-6706702
6 KIAA0753 NC_000017.10:g.(?_6328760)_(6616672_?)del Deletion Pathogenic 583807 17:6328760-6616672
7 SLC13A5 NC_000017.11:g.(?_6686187)_(6713353_?)del Deletion Pathogenic 830864 17:6589506-6616672
8 SLC13A5 NM_177550.5(SLC13A5):c.930del (p.Leu312fs) Deletion Pathogenic 934267 17:6599170-6599170 17:6695851-6695851
9 SLC13A5 NM_177550.4(SLC13A5):c.997C>T (p.Arg333Ter) SNV Pathogenic 280534 rs773770609 17:6599103-6599103 17:6695784-6695784
10 SLC13A5 NM_177550.4(SLC13A5):c.425C>T (p.Thr142Met) SNV Pathogenic/Likely pathogenic 218173 rs761917087 17:6607319-6607319 17:6704000-6704000
11 SLC13A5 NM_177550.4(SLC13A5):c.655G>A (p.Gly219Arg) SNV Pathogenic/Likely pathogenic 140752 rs144332569 17:6606350-6606350 17:6703031-6703031
12 SLC13A5 NM_177550.4(SLC13A5):c.1475T>C (p.Leu492Pro) SNV Likely pathogenic 375390 rs1057519449 17:6590948-6590948 17:6687629-6687629
13 SLC13A5 NM_177550.4(SLC13A5):c.1156+1G>A SNV Likely pathogenic 475191 rs1555541483 17:6597415-6597415 17:6694096-6694096
14 SLC13A5 NM_177550.5(SLC13A5):c.232-2A>G SNV Likely pathogenic 933614 17:6610099-6610099 17:6706780-6706780
15 SLC13A5 NM_177550.5(SLC13A5):c.1276-1G>A SNV Likely pathogenic 803300 rs1597657030 17:6594260-6594260 17:6690941-6690941
16 SLC13A5 NM_177550.5(SLC13A5):c.272T>C (p.Leu91Pro) SNV Likely pathogenic 803302 rs1555543400 17:6610057-6610057 17:6706738-6706738
17 SLC13A5 NM_177550.5(SLC13A5):c.103-1G>A SNV Likely pathogenic 803303 rs1597677742 17:6610476-6610476 17:6707157-6707157
18 SLC13A5 NM_177550.5(SLC13A5):c.839+1G>A SNV Likely pathogenic 838825 17:6604322-6604322 17:6701003-6701003
19 SLC13A5 NM_177550.4(SLC13A5):c.1463T>C (p.Leu488Pro) SNV Likely pathogenic 140754 rs587777578 17:6590960-6590960 17:6687641-6687641
20 SLC13A5 NM_177550.5(SLC13A5):c.434C>T (p.Thr145Met) SNV Conflicting interpretations of pathogenicity 803301 rs1202091819 17:6607310-6607310 17:6703991-6703991
21 SLC13A5 NM_177550.4(SLC13A5):c.441G>A (p.Met147Ile) SNV Uncertain significance 475197 rs764711084 17:6607303-6607303 17:6703984-6703984
22 SLC13A5 NM_177550.4(SLC13A5):c.285_290CGTGGC[3] (p.97_98AV[3]) Microsatellite Uncertain significance 503837 rs1555543390 17:6610032-6610033 17:6706713-6706714
23 SLC13A5 NM_177550.5(SLC13A5):c.1460C>T (p.Pro487Leu) SNV Uncertain significance 933613 17:6590963-6590963 17:6687644-6687644
24 SLC13A5 NC_000017.11:g.(?_6686187)_(6713353_?)dup Duplication Uncertain significance 831005 17:6589506-6616672
25 SLC13A5 NM_177550.5(SLC13A5):c.1564G>A (p.Val522Ile) SNV Uncertain significance 834467 17:6590859-6590859 17:6687540-6687540
26 SLC13A5 NM_177550.5(SLC13A5):c.9G>A (p.Ser3=) SNV Uncertain significance 837199 17:6616644-6616644 17:6713325-6713325
27 SLC13A5 NM_177550.5(SLC13A5):c.931C>T (p.Pro311Ser) SNV Uncertain significance 837641 17:6599169-6599169 17:6695850-6695850
28 SLC13A5 NM_177550.5(SLC13A5):c.712A>G (p.Asn238Asp) SNV Uncertain significance 937501 17:6606293-6606293 17:6702974-6702974
29 SLC13A5 NM_177550.5(SLC13A5):c.737A>G (p.Asp246Gly) SNV Uncertain significance 939748 17:6604425-6604425 17:6701106-6701106
30 SLC13A5 NM_177550.5(SLC13A5):c.569G>A (p.Gly190Asp) SNV Uncertain significance 940383 17:6606436-6606436 17:6703117-6703117
31 SLC13A5 NM_177550.5(SLC13A5):c.1259T>C (p.Leu420Pro) SNV Uncertain significance 941376 17:6596379-6596379 17:6693060-6693060
32 SLC13A5 NM_177550.5(SLC13A5):c.644C>T (p.Ala215Val) SNV Uncertain significance 943501 17:6606361-6606361 17:6703042-6703042
33 SLC13A5 NM_177550.5(SLC13A5):c.919C>T (p.Arg307Trp) SNV Uncertain significance 944203 17:6599181-6599181 17:6695862-6695862
34 SLC13A5 NM_177550.5(SLC13A5):c.248T>G (p.Met83Arg) SNV Uncertain significance 945772 17:6610081-6610081 17:6706762-6706762
35 SLC13A5 NM_177550.5(SLC13A5):c.325A>G (p.Ile109Val) SNV Uncertain significance 945792 17:6610004-6610004 17:6706685-6706685
36 SLC13A5 NM_177550.5(SLC13A5):c.1646G>A (p.Arg549Gln) SNV Uncertain significance 946341 17:6589587-6589587 17:6686268-6686268
37 SLC13A5 NM_177550.5(SLC13A5):c.1138C>T (p.Arg380Cys) SNV Uncertain significance 948320 17:6597434-6597434 17:6694115-6694115
38 SLC13A5 NM_177550.5(SLC13A5):c.1000G>T (p.Asp334Tyr) SNV Uncertain significance 948672 17:6599100-6599100 17:6695781-6695781
39 SLC13A5 NM_177550.4(SLC13A5):c.991T>A (p.Phe331Ile) SNV Uncertain significance 429897 rs142301014 17:6599109-6599109 17:6695790-6695790
40 SLC13A5 NM_177550.5(SLC13A5):c.1199A>T (p.Lys400Met) SNV Uncertain significance 949540 17:6596439-6596439 17:6693120-6693120
41 SLC13A5 NM_177550.5(SLC13A5):c.1645C>T (p.Arg549Trp) SNV Uncertain significance 951028 17:6589588-6589588 17:6686269-6686269
42 SLC13A5 NM_177550.5(SLC13A5):c.335G>A (p.Arg112His) SNV Uncertain significance 952560 17:6609994-6609994 17:6706675-6706675
43 SLC13A5 NM_177550.5(SLC13A5):c.499G>C (p.Glu167Gln) SNV Uncertain significance 956571 17:6607245-6607245 17:6703926-6703926
44 SLC13A5 NM_177550.5(SLC13A5):c.362C>T (p.Pro121Leu) SNV Uncertain significance 957486 17:6609967-6609967 17:6706648-6706648
45 SLC13A5 NM_177550.5(SLC13A5):c.1445C>T (p.Ser482Phe) SNV Uncertain significance 958142 17:6590978-6590978 17:6687659-6687659
46 SLC13A5 NM_177550.5(SLC13A5):c.802G>A (p.Ala268Thr) SNV Uncertain significance 958780 17:6604360-6604360 17:6701041-6701041
47 SLC13A5 NM_177550.5(SLC13A5):c.169G>T (p.Ala57Ser) SNV Uncertain significance 959471 17:6610409-6610409 17:6707090-6707090
48 SLC13A5 NM_177550.5(SLC13A5):c.970T>C (p.Phe324Leu) SNV Uncertain significance 960537 17:6599130-6599130 17:6695811-6695811
49 SLC13A5 NM_177550.5(SLC13A5):c.304C>T (p.Arg102Cys) SNV Uncertain significance 961368 17:6610025-6610025 17:6706706-6706706
50 SLC13A5 NM_177550.5(SLC13A5):c.1127A>G (p.Lys376Arg) SNV Uncertain significance 962623 17:6597445-6597445 17:6694126-6694126

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 25, with Amelogenesis Imperfecta:

73
# Symbol AA change Variation ID SNP ID
1 SLC13A5 p.Thr142Met VAR_078912 rs761917087
2 SLC13A5 p.Gly219Arg VAR_078913 rs144332569
3 SLC13A5 p.Thr227Met VAR_078914 rs587777577
4 SLC13A5 p.Ser427Leu VAR_078916 rs548065551
5 SLC13A5 p.Leu488Pro VAR_078917 rs587777578
6 SLC13A5 p.Asp524His VAR_078918 rs863225448

Expression for Developmental and Epileptic Encephalopathy 25, with Amelogenesis...

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 25, with Amelogenesis Imperfecta.

Pathways for Developmental and Epileptic Encephalopathy 25, with Amelogenesis...

GO Terms for Developmental and Epileptic Encephalopathy 25, with Amelogenesis...

Cellular components related to Developmental and Epileptic Encephalopathy 25, with Amelogenesis Imperfecta according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 centriole GO:0005814 8.62 KIAA0753 CEP120

Biological processes related to Developmental and Epileptic Encephalopathy 25, with Amelogenesis Imperfecta according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sodium ion transport GO:0006814 9.16 SLC13A5 SLC13A2
2 anion transmembrane transport GO:0098656 8.96 SLC13A5 SLC13A2
3 succinate transmembrane transport GO:0071422 8.62 SLC13A5 SLC13A2

Molecular functions related to Developmental and Epileptic Encephalopathy 25, with Amelogenesis Imperfecta according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 8.96 SLC13A5 SLC13A2
2 succinate transmembrane transporter activity GO:0015141 8.62 SLC13A5 SLC13A2

Sources for Developmental and Epileptic Encephalopathy 25, with Amelogenesis...

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
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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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