SENEBAC
MCID: SZR029
MIFTS: 16

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

Categories: 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 56 6
Seizures, Early-Onset, with Neurodegeneration and Brain Calcification 56
Senebac 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 56 618875

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

OMIM : 56 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)

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.

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

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

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
cerebellar atrophy
encephalopathy
poor head control
cerebral atrophy
more
Abdomen Gastrointestinal:
tube feeding

Respiratory:
aspiration
tracheostomy

Head And Neck Eyes:
poor visual attention

Clinical features from OMIM:

618875

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. 56 6
32100099 2020
2
Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification. 6 56
32197075 2020
3
Mice deficient in NRROS show abnormal microglial development and neurological disorders. 56
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
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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30 HMDB
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32 ICD10
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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