Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

MalaCards integrated aliases for Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy:

Name: Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy ⁵⁷ ⁷⁵ ⁶

Ndmsca ⁵⁷ ⁷⁵

Neurodevelopmental Disorder with Microcephaly, Seizures, Cortical Atrophy ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
three patients from 2 unrelated consanguineous families have been reported (last curated december 2017)

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 617802

MedGen ⁴² C4540493 CN679649

MeSH ⁴⁴ D065886

SNOMED-CT via HPO ⁶⁹ 228156007 247578003 91138005 more

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Summaries for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

UniProtKB/Swiss-Prot : ⁷⁵ Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy: An autosomal recessive neurodevelopmental disorder characterized by severe developmental delay, intellectual disability, severe microcephaly, and cortical atrophy.

MalaCards based summary : Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy, is also known as ndmsca. An important gene associated with Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy is VARS (Valyl-TRNA Synthetase). Related phenotypes are intellectual disability and seizures

Description from OMIM: 617802

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Related Diseases for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

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Symptoms & Phenotypes for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

Symptoms via clinical synopsis from OMIM:

⁵⁷

Neurologic Central Nervous System:
intellectual disability
seizures
cortical atrophy
delayed psychomotor development

Head And Neck Head:
microcephaly

Clinical features from OMIM:

617802

Human phenotypes related to Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy:

³²

#	Description	HPO Source Accession
1	intellectual disability ³²	HP:0001249
2	seizures ³²	HP:0001250
3	global developmental delay ³²	HP:0001263
4	cerebral cortical atrophy ³²	HP:0002120

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Drugs & Therapeutics for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy

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Genetic Tests for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

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Anatomical Context for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

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Publications for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

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Genes for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

Genes related to Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	VARS	Valyl-TRNA Synthetase	Protein Coding	928.74	Molecular basis known ⁵⁷ Pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	26539891

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Variations for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy:

⁶ (show all 24)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	VARS	NM_006295.2(VARS): c.3173G> A (p.Arg1058Gln)	single nucleotide variant	Likely pathogenic	rs769369302	GRCh37	Chromosome 6, 31747500: 31747500
2	VARS	NM_006295.2(VARS): c.3173G> A (p.Arg1058Gln)	single nucleotide variant	Likely pathogenic	rs769369302	GRCh38	Chromosome 6, 31779723: 31779723
3	VARS	NM_006295.2(VARS): c.2653C> T (p.Leu885Phe)	single nucleotide variant	Likely pathogenic	rs1060499734	GRCh38	Chromosome 6, 31780935: 31780935
4	VARS	NM_006295.2(VARS): c.2653C> T (p.Leu885Phe)	single nucleotide variant	Likely pathogenic	rs1060499734	GRCh37	Chromosome 6, 31748712: 31748712
5	VARS	NM_006295.2(VARS): c.2074G> C (p.Ala692Pro)	single nucleotide variant	Pathogenic	rs747824231	GRCh37	Chromosome 6, 31750138: 31750138
6	VARS	NM_006295.2(VARS): c.2074G> C (p.Ala692Pro)	single nucleotide variant	Pathogenic	rs747824231	GRCh38	Chromosome 6, 31782361: 31782361
7	VARS	NM_006295.2(VARS): c.1324C> T (p.Arg442Ter)	single nucleotide variant	Pathogenic	rs763777257	GRCh37	Chromosome 6, 31753046: 31753046
8	VARS	NM_006295.2(VARS): c.1324C> T (p.Arg442Ter)	single nucleotide variant	Pathogenic	rs763777257	GRCh38	Chromosome 6, 31785269: 31785269
9	VARS; VARS2	NM_006295.2(VARS): c.1981C> A (p.Pro661Thr)	single nucleotide variant	Likely pathogenic		GRCh38	Chromosome 6, 31782540: 31782540
10	VARS; VARS2	NM_006295.2(VARS): c.1981C> A (p.Pro661Thr)	single nucleotide variant	Likely pathogenic		GRCh37	Chromosome 6, 31750317: 31750317
11	VARS	NM_006295.2(VARS): c.2825G> A (p.Arg942Gln)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 6, 31780541: 31780541
12	VARS	NM_006295.2(VARS): c.2825G> A (p.Arg942Gln)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 6, 31748318: 31748318
13	VARS	NM_006295.2(VARS): c.2464G> A (p.Gly822Ser)	single nucleotide variant	Pathogenic	rs376864621	GRCh37	Chromosome 6, 31749338: 31749338
14	VARS	NM_006295.2(VARS): c.2464G> A (p.Gly822Ser)	single nucleotide variant	Pathogenic	rs376864621	GRCh38	Chromosome 6, 31781561: 31781561
15	VARS	NM_006295.2(VARS): c.1325G> A (p.Arg442Gln)	single nucleotide variant	Pathogenic	rs762729609	GRCh38	Chromosome 6, 31785268: 31785268
16	VARS	NM_006295.2(VARS): c.1325G> A (p.Arg442Gln)	single nucleotide variant	Pathogenic	rs762729609	GRCh37	Chromosome 6, 31753045: 31753045
17	VARS	NM_006295.2(VARS): c.1300C> G (p.Leu434Val)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 6, 31785293: 31785293
18	VARS	NM_006295.2(VARS): c.1300C> G (p.Leu434Val)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 6, 31753070: 31753070
19	VARS	NM_006295.2(VARS): c.1210C> T (p.Arg404Trp)	single nucleotide variant	Pathogenic	rs749228986	GRCh37	Chromosome 6, 31753401: 31753401
20	VARS	NM_006295.2(VARS): c.1210C> T (p.Arg404Trp)	single nucleotide variant	Pathogenic	rs749228986	GRCh38	Chromosome 6, 31785624: 31785624
21	VARS	NM_006295.2(VARS): c.1199A> C (p.Gln400Pro)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 6, 31785635: 31785635
22	VARS	NM_006295.2(VARS): c.1199A> C (p.Gln400Pro)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 6, 31753412: 31753412
23	VARS	NM_006295.2(VARS): c.219_232dup (p.Leu78Argfs)	duplication	Pathogenic		GRCh37	Chromosome 6, 31762763: 31762776
24	VARS	NM_006295.2(VARS): c.219_232dup (p.Leu78Argfs)	duplication	Pathogenic		GRCh38	Chromosome 6, 31794986: 31794999

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Expression for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy.

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Pathways for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

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GO Terms for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

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Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy (NDMSCA)

Aliases & Classifications for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

MalaCards integrated aliases for Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy:

Characteristics:

OMIM:

Classifications:

External Ids:

Summaries for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

Related Diseases for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy:

Drugs & Therapeutics for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

Genetic Tests for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

Anatomical Context for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

Publications for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

Genes for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

Genes related to Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy (1 elite genes):

Variations for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy:

Expression for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

Pathways for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

GO Terms for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

Sources for Neurodevelopmental Disorder with Microcephaly, Seizures, and...