MCID: RGD002
MIFTS: 28

Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Categories: Genetic diseases, Neuronal diseases, Rare diseases

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

MalaCards integrated aliases for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:

Name: Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 54 24 71 29 13 69
Rmfsl 24 71
Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome 56
Lethal Neonatal Rigidity-Multifocal Seizure Syndrome 56
Muscle Rigidity 42

Characteristics:

Orphanet epidemiological data:

56
lethal neonatal spasticity-epileptic encephalopathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
death in infancy
onset at or soon after birth


HPO:

32
rigidity and multifocal seizure syndrome, lethal neonatal:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


Summaries for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

UniProtKB/Swiss-Prot : 71 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 malignant hyperthermia and neurodegeneration with brain iron accumulation 1, and has symptoms including optic atrophy, hypertonia and microcephaly. An important gene associated with Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal is BRAT1 (BRCA1 Associated ATM Activator 1). Affiliated tissues include bone, tongue and cortex.

OMIM : 54
Lethal neonatal rigidity and multifocal seizure syndrome is a severe autosomal recessive epileptic encephalopathy characterized by onset of rigidity and intractable seizures at or soon after birth. Affected infants achieve no developmental milestones and die within the first months or years of life (summary by Saitsu et al., 2014). (614498)

Related Diseases for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Graphical network of the top 20 diseases related to Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:



Diseases related to Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Symptoms & Phenotypes for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Symptoms via clinical synopsis from OMIM:

54

Skeletal:
joint contractures

Respiratory:
apnea

Head And Neck- Face:
micrognathia (in some patients)

Head And Neck- Eyes:
optic atrophy (1 family)

Prenatal Manifestations- Movement:
episodic myoclonic spasms

Neurologic- Central Nervous System:
hyperreflexia
extensor plantar responses
hypertonia
lack of psychomotor development
clonus
more
Cardiovascular- Heart:
bradycardia

Head And Neck- Head:
microcephaly, progressive
small head (-1.5 to 2 sd)

Skeletal- Skull:
small or absent fontanels
depressed frontal bones
overlapping cranial sutures


Clinical features from OMIM:

614498

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

32 (show all 18)
id Description HPO Frequency HPO Source Accession
1 optic atrophy 32 occasional (7.5%) HP:0000648
2 hypertonia 32 HP:0001276
3 microcephaly 32 HP:0000252
4 micrognathia 32 occasional (7.5%) HP:0000347
5 global developmental delay 32 HP:0001263
6 rigidity 32 HP:0002063
7 apnea 32 HP:0002104
8 clonus 32 HP:0002169
9 delayed myelination 32 occasional (7.5%) HP:0012448
10 bradycardia 32 HP:0001662
11 gliosis 32 HP:0002171
12 babinski sign 32 HP:0003487
13 dysautonomia 32 HP:0002459
14 myoclonic spasms 32 HP:0003739
15 progressive microcephaly 32 HP:0000253
16 flexion contracture 32 HP:0001371
17 generalized myoclonic seizures 32 HP:0002123
18 neuronal loss in central nervous system 32 HP:0002529

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


clonus

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

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

Cochrane evidence based reviews: muscle rigidity

Genetic Tests for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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

id Genetic test Affiliating Genes
1 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 29 24 BRAT1

Anatomical Context for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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

39
Bone, Tongue, Cortex, Cerebellum

Publications for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Variations for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 BRAT1 NM_152743.3(BRAT1): c.638dupA (p.Val214Glyfs) duplication Pathogenic rs730880324 GRCh37 Chromosome 7, 2583389: 2583389
2 BRAT1 NM_152743.3(BRAT1): c.453_454insGAGAAGAT (p.Leu152Glufs) insertion Pathogenic rs727505362 GRCh38 Chromosome 7, 2543939: 2543940
3 BRAT1 NM_152743.3(BRAT1): c.176T> C (p.Leu59Pro) single nucleotide variant Pathogenic rs727505363 GRCh37 Chromosome 7, 2587064: 2587064
4 BRAT1 NM_152743.3(BRAT1): c.962_963delTC (p.Leu321Profs) deletion Pathogenic rs727505364 GRCh37 Chromosome 7, 2581806: 2581807
5 BRAT1 NM_152743.3(BRAT1): c.1177delG (p.Ala393Leufs) deletion Pathogenic rs727505365 GRCh37 Chromosome 7, 2581076: 2581076
6 BRAT1 NM_152743.3(BRAT1): c.1857G> A (p.Trp619Ter) single nucleotide variant Pathogenic rs794729222 GRCh37 Chromosome 7, 2578312: 2578312
7 BRAT1 NM_152743.3(BRAT1): c.294dupA (p.Leu99Thrfs) duplication Pathogenic rs776913277 GRCh37 Chromosome 7, 2584679: 2584679
8 BRAT1 NM_152743.3(BRAT1): c.964C> T (p.Gln322Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 2581805: 2581805

Expression for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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

Pathways for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

GO Terms for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Sources for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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10 dbSNP
11 DGIdb
16 ExPASy
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28 GO
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30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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