SENEBAC
MCID: SZR029
MIFTS: 21

Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications (SENEBAC)

Categories: Eye diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Seizures, Early-Onset, with Neurodegeneration and Brain...

MalaCards integrated aliases for Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications:

Name: Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications 57 6
Seizures, Early-Onset, with Neurodegeneration and Brain Calcification 57 73
Senebac 57 73

Characteristics:

OMIM®:

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

Miscellaneous:
progressive disorder
onset of seizures in the first months or years of life
death in childhood (in some patients)


HPO:

31
seizures, early-onset, with neurodegeneration and brain calcifications:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Seizures, Early-Onset, with Neurodegeneration and Brain...

OMIM® : 57 Early-onset seizures with neurodegeneration and brain calcifications (SENEBAC) is an autosomal recessive encephalopathy characterized by onset of refractory seizures in the first year of life. Affected individuals tend to have normal or mildly delayed development early in life, but show significant and progressive developmental regression associated with seizure onset. Features include hypotonia, peripheral spasticity, poor eye contact, and absent speech. Most require tube feeding; death in childhood may occur. Brain imaging shows cerebral atrophy, loss of white matter, and punctate calcifications, suggestive of abnormal neuroinflammation (summary by Smith et al., 2020 and Dong et al., 2020). (618875) (Updated 05-Mar-2021)

MalaCards based summary : Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications, is also known as seizures, early-onset, with neurodegeneration and brain calcification. An important gene associated with Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications is NRROS (Negative Regulator Of Reactive Oxygen Species). Affiliated tissues include brain and eye, and related phenotypes are global developmental delay and hypoplasia of the corpus callosum

UniProtKB/Swiss-Prot : 73 Seizures, early-onset, with neurodegeneration and brain calcification: An autosomal recessive neurodegenerative disorder clinically characterized by refractory seizures apparent in the first year of life, mild early developmental delay, and developmental regression after seizure onset. Other features include hypotonia, hyperreflexia, peripheral spasticity, poor eye contact, absent speech, poor head control, and inability to walk. Brain imaging shows reduced white matter volume with delayed myelination, and punctate calcifications.

Related Diseases for Seizures, Early-Onset, with Neurodegeneration and Brain...

Symptoms & Phenotypes for Seizures, Early-Onset, with Neurodegeneration and Brain...

Human phenotypes related to Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
3 muscular hypotonia of the trunk 31 very rare (1%) HP:0008936
4 delayed cns myelination 31 very rare (1%) HP:0002188
5 appendicular hypotonia 31 very rare (1%) HP:0012389
6 seizure 31 very rare (1%) HP:0001250
7 cerebral atrophy 31 HP:0002059
8 periventricular leukomalacia 31 HP:0006970

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
hyperreflexia
encephalopathy
poor head control
cerebellar atrophy
cerebral atrophy
more
Abdomen Gastrointestinal:
tube feeding

Respiratory:
aspiration
tracheostomy

Head And Neck Eyes:
poor visual attention

Clinical features from OMIM®:

618875 (Updated 05-Mar-2021)

Drugs & Therapeutics for Seizures, Early-Onset, with Neurodegeneration and Brain...

Search Clinical Trials , NIH Clinical Center for Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications

Genetic Tests for Seizures, Early-Onset, with Neurodegeneration and Brain...

Anatomical Context for Seizures, Early-Onset, with Neurodegeneration and Brain...

MalaCards organs/tissues related to Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications:

40
Brain, Eye

Publications for Seizures, Early-Onset, with Neurodegeneration and Brain...

Articles related to Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications:

# Title Authors PMID Year
1
Biallelic mutations in NRROS cause an early onset lethal microgliopathy. 57 6
32100099 2020
2
Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification. 57 6
32197075 2020
3
Mice deficient in NRROS show abnormal microglial development and neurological disorders. 57
28459434 2017

Variations for Seizures, Early-Onset, with Neurodegeneration and Brain...

ClinVar genetic disease variations for Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NRROS NM_198565.3(NRROS):c.1777C>T (p.Gln593Ter) SNV Pathogenic 873027 3:196388291-196388291 3:196661420-196661420
2 NRROS NM_198565.3(NRROS):c.29T>C (p.Leu10Pro) SNV Pathogenic 873028 3:196381439-196381439 3:196654568-196654568
3 NRROS NM_198565.3(NRROS):c.1257del (p.Gly420fs) Deletion Pathogenic 873029 3:196387771-196387771 3:196660900-196660900
4 NRROS NM_198565.3(NRROS):c.1981del (p.Leu661fs) Deletion Pathogenic 873030 3:196388494-196388494 3:196661623-196661623
5 NRROS NM_198565.3(NRROS):c.1644del (p.Thr549fs) Deletion Pathogenic 873031 3:196388158-196388158 3:196661287-196661287
6 NRROS NM_198565.3(NRROS):c.190del (p.Leu64fs) Deletion Pathogenic 873032 3:196386702-196386702 3:196659831-196659831

Expression for Seizures, Early-Onset, with Neurodegeneration and Brain...

Search GEO for disease gene expression data for Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications.

Pathways for Seizures, Early-Onset, with Neurodegeneration and Brain...

GO Terms for Seizures, Early-Onset, with Neurodegeneration and Brain...

Sources for Seizures, Early-Onset, with Neurodegeneration and Brain...

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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