MCID: RGD002
MIFTS: 19

Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal malady

Category: Genetic diseases (common)

Aliases & Classifications for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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Aliases & Descriptions for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:

Name: Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 49 11 22 67 65
Rmfsl 22 67
 
Lethal Neonatal Rigidity-Multifocal Seizure Syndrome 24

Characteristics:

HPO:

61
rigidity and multifocal seizure syndrome, lethal neonatal:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 614498
MedGen34 C3281029
UMLS65 C3281029

Summaries for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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UniProtKB/Swiss-Prot:67 Rigidity and multifocal seizure syndrome, lethal neonatal: A lethal, neonatal, neurologic disorder characterized by episodic jerking that is apparent in utero, lack of psychomotor development, axial and limb rigidity, frequent multifocal seizures, and dysautonomia. At birth, affected individuals have small heads, overlapping cranial sutures, small or absent fontanels, and depressed frontal bones. Infants show poorly responsive focal jerks of the tongue, face and arms in a nearly continuous sequence throughout life.

MalaCards based summary: Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal, also known as rmfsl, is related to lethal neonatal spasticity-epileptic encephalopathy syndrome, and has symptoms including micrognathia, optic atrophy and delayed myelination. An important gene associated with Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal is BRAT1 (BRCA1 Associated ATM Activator 1). Affiliated tissues include bone and tongue.

OMIM:49 Lethal neonatal rigidity and multifocal seizure syndrome is a severe autosomal recessive epileptic encephalopathy... (614498) more...

Related Diseases for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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Diseases related to Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1lethal neonatal spasticity-epileptic encephalopathy syndrome11.5

Symptoms for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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Symptoms by clinical synopsis from OMIM:

614498

Clinical features from OMIM:

614498

HPO human phenotypes related to Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:

(show all 17)
id Description Frequency HPO Source Accession
1 micrognathia rare (5%) HP:0000347
2 optic atrophy rare (5%) HP:0000648
3 delayed myelination rare (5%) HP:0012448
4 microcephaly HP:0000252
5 global developmental delay HP:0001263
6 hypertonia HP:0001276
7 flexion contracture HP:0001371
8 bradycardia HP:0001662
9 rigidity HP:0002063
10 apnea HP:0002104
11 generalized myoclonic seizures HP:0002123
12 clonus HP:0002169
13 gliosis HP:0002171
14 dysautonomia HP:0002459
15 neuronal loss in central nervous system HP:0002529
16 babinski sign HP:0003487
17 myoclonic spasms HP:0003739

UMLS symptoms related to Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:


clonus

Drugs & Therapeutics for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Genetic Tests for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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Genetic tests related to Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:

id Genetic test Affiliating Genes
1 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal22 BRAT1

Anatomical Context for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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MalaCards organs/tissues related to Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:

33
Bone, Tongue

Animal Models for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal or affiliated genes

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Publications for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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Variations for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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Clinvar genetic disease variations for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:

5
id Gene Variation Type Significance SNP ID Assembly Location
1BRAT1NM_152743.3(BRAT1): c.453_454insGAGAAGAT (p.Leu152Glufs)insertionPathogenicrs727505362GRCh38Chr 7, 2543939: 2543940
2BRAT1NM_152743.3(BRAT1): c.176T> C (p.Leu59Pro)single nucleotide variantPathogenicrs727505363GRCh37Chr 7, 2587064: 2587064
3BRAT1NM_152743.3(BRAT1): c.962_963delTC (p.Leu321Profs)deletionPathogenicrs727505364GRCh37Chr 7, 2581806: 2581807
4BRAT1NM_152743.3(BRAT1): c.1177delG (p.Ala393Leufs)deletionPathogenicrs727505365GRCh37Chr 7, 2581076: 2581076
5BRAT1NM_152743.3(BRAT1): c.1857G> A (p.Trp619Ter)single nucleotide variantPathogenicrs794729222GRCh37Chr 7, 2578312: 2578312
6BRAT1NM_152743.3(BRAT1): c.638dupA (p.Val214Glyfs)duplicationPathogenicrs730880324GRCh37Chr 7, 2583389: 2583389

Expression for genes affiliated with Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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Search GEO for disease gene expression data for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal.

Pathways for genes affiliated with Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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GO Terms for genes affiliated with Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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Sources for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet