Seizures, Cortical Blindness, and Microcephaly Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SCBMS MCID: SZR027 MIFTS: 20	Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS) Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Seizures, Cortical Blindness, and Microcephaly Syndrome

MalaCards integrated aliases for Seizures, Cortical Blindness, and Microcephaly Syndrome:

Name: Seizures, Cortical Blindness, and Microcephaly Syndrome ⁵⁸ ⁷⁶ ³⁰ ⁶

Scbms ⁵⁸ ⁷⁶

Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome ⁶⁰

Seizures, Cortical Blindness, Microcephaly Syndrome ⁵⁸

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
onset of seizures in first months of life

HPO:

³³

seizures, cortical blindness, and microcephaly syndrome:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

Orphanet: ⁶⁰

Rare neurological diseases

Rare eye diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁸ 616632

MeSH ⁴⁵ D008831 D012640 D019575

Orphanet ⁶⁰ ORPHA477814

MedGen ⁴³ C4225261 CN233219

SNOMED-CT via HPO ⁷⁰ 128613002 204043002 237836003 more

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Summaries for Seizures, Cortical Blindness, and Microcephaly Syndrome

OMIM : ⁵⁸ Seizures, cortical blindness, and microcephaly syndrome (SCBMS) is an autosomal recessive neurodevelopmental disorder characterized by microcephaly, early-onset seizures, severely delayed psychomotor development, and cortical blindness. Affected individuals also tend to show poor overall growth with short stature (summary by Ercan-Sencicek et al., 2015). (616632)

MalaCards based summary : Seizures, Cortical Blindness, and Microcephaly Syndrome, is also known as scbms. An important gene associated with Seizures, Cortical Blindness, and Microcephaly Syndrome is DIAPH1 (Diaphanous Related Formin 1). Affiliated tissues include eye, and related phenotypes are generalized hypotonia and seizures

UniProtKB/Swiss-Prot : ⁷⁶ Seizures, cortical blindness, and microcephaly syndrome: A severe autosomal recessive neurodevelopmental disorder characterized by microcephaly, early-onset seizures, severely delayed psychomotor development, short stature, and cortical blindness.

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Related Diseases for Seizures, Cortical Blindness, and Microcephaly Syndrome

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Symptoms & Phenotypes for Seizures, Cortical Blindness, and Microcephaly Syndrome

Human phenotypes related to Seizures, Cortical Blindness, and Microcephaly Syndrome:

³³ (show all 8)

#	Description	HPO Frequency	HPO Source Accession
1	generalized hypotonia ³³	occasional (7.5%)	HP:0001290
2	seizures ³³		HP:0001250
3	microcephaly ³³		HP:0000252
4	optic atrophy ³³		HP:0000648
5	short stature ³³		HP:0004322
6	hypoplasia of the corpus callosum ³³		HP:0002079
7	cerebral visual impairment ³³		HP:0100704
8	poor speech ³³		HP:0002465

Symptoms via clinical synopsis from OMIM:

⁵⁸

Neurologic Central Nervous System:
seizures
hypoplasia of the corpus callosum
poor speech
delayed psychomotor development, moderate to severe

Growth Height:
short stature

Muscle Soft Tissue:
hypotonia (in some patients)

Head And Neck Eyes:
optic atrophy
cortical blindness

Growth Other:
poor growth

Head And Neck Head:
microcephaly (up to -10 sd)

Clinical features from OMIM:

616632

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Drugs & Therapeutics for Seizures, Cortical Blindness, and Microcephaly Syndrome

Search Clinical Trials , NIH Clinical Center for Seizures, Cortical Blindness, and Microcephaly Syndrome

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Genetic Tests for Seizures, Cortical Blindness, and Microcephaly Syndrome

Genetic tests related to Seizures, Cortical Blindness, and Microcephaly Syndrome:

#	Genetic test	Affiliating Genes
1	Seizures, Cortical Blindness, and Microcephaly Syndrome ³⁰	DIAPH1

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Anatomical Context for Seizures, Cortical Blindness, and Microcephaly Syndrome

MalaCards organs/tissues related to Seizures, Cortical Blindness, and Microcephaly Syndrome:

⁴²

Eye

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Publications for Seizures, Cortical Blindness, and Microcephaly Syndrome

Articles related to Seizures, Cortical Blindness, and Microcephaly Syndrome:

#	Title	Authors	Year
1	Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. ( 26463574 )	Al-Maawali A...Stoler JM	2016
2	Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. ( 24781755 )	Ercan-Sencicek AG...State MW	2015

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Genes for Seizures, Cortical Blindness, and Microcephaly Syndrome

Genes related to Seizures, Cortical Blindness, and Microcephaly Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DIAPH1	Diaphanous Related Formin 1	Protein Coding	1380.04	Molecular basis known ⁵⁸ Pathogenic/Likely pathogenic ⁶ Causative germline mutation (loss of function) ⁶⁰ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	24781755 26463574

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Variations for Seizures, Cortical Blindness, and Microcephaly Syndrome

ClinVar genetic disease variations for Seizures, Cortical Blindness, and Microcephaly Syndrome:

⁶ (show top 50) (show all 151)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	DIAPH1	NM_005219.4(DIAPH1): c.3579C> T (p.Gly1193=)	single nucleotide variant	Benign/Likely benign	rs2302102	GRCh37	Chromosome 5, 140903792: 140903792
2	DIAPH1	NM_005219.4(DIAPH1): c.3579C> T (p.Gly1193=)	single nucleotide variant	Benign/Likely benign	rs2302102	GRCh38	Chromosome 5, 141524225: 141524225
3	DIAPH1	NM_005219.4(DIAPH1): c.891G> A (p.Pro297=)	single nucleotide variant	Benign	rs116463365	GRCh38	Chromosome 5, 141579130: 141579130
4	DIAPH1	NM_005219.4(DIAPH1): c.891G> A (p.Pro297=)	single nucleotide variant	Benign	rs116463365	GRCh37	Chromosome 5, 140958697: 140958697
5	DIAPH1	NM_005219.4(DIAPH1): c.3765G> A (p.Glu1255=)	single nucleotide variant	Benign/Likely benign	rs35755269	GRCh38	Chromosome 5, 141516905: 141516905
6	DIAPH1	NM_005219.4(DIAPH1): c.3765G> A (p.Glu1255=)	single nucleotide variant	Benign/Likely benign	rs35755269	GRCh37	Chromosome 5, 140896472: 140896472
7	DIAPH1	NM_005219.4(DIAPH1): c.3050T> C (p.Met1017Thr)	single nucleotide variant	Uncertain significance	rs376220834	GRCh38	Chromosome 5, 141528551: 141528551
8	DIAPH1	NM_005219.4(DIAPH1): c.3050T> C (p.Met1017Thr)	single nucleotide variant	Uncertain significance	rs376220834	GRCh37	Chromosome 5, 140908118: 140908118
9	DIAPH1	NM_005219.4(DIAPH1): c.2525A> C (p.Gln842Pro)	single nucleotide variant	Benign/Likely benign	rs200220260	GRCh37	Chromosome 5, 140913958: 140913958
10	DIAPH1	NM_005219.4(DIAPH1): c.2525A> C (p.Gln842Pro)	single nucleotide variant	Benign/Likely benign	rs200220260	GRCh38	Chromosome 5, 141534391: 141534391
11	DIAPH1	NM_005219.4(DIAPH1): c.1364G> A (p.Arg455Gln)	single nucleotide variant	Uncertain significance	rs200004048	GRCh37	Chromosome 5, 140956355: 140956355
12	DIAPH1	NM_005219.4(DIAPH1): c.1364G> A (p.Arg455Gln)	single nucleotide variant	Uncertain significance	rs200004048	GRCh38	Chromosome 5, 141576788: 141576788
13	DIAPH1	NM_005219.4(DIAPH1): c.390C> T (p.Tyr130=)	single nucleotide variant	Benign/Likely benign	rs34296458	GRCh37	Chromosome 5, 140963703: 140963703
14	DIAPH1	NM_005219.4(DIAPH1): c.390C> T (p.Tyr130=)	single nucleotide variant	Benign/Likely benign	rs34296458	GRCh38	Chromosome 5, 141584136: 141584136
15	DIAPH1	NM_001079812.2(DIAPH1): c.2305C> T (p.Gln769Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs730882242	GRCh38	Chromosome 5, 141573518: 141573518
16	DIAPH1	NM_001079812.2(DIAPH1): c.2305C> T (p.Gln769Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs730882242	GRCh37	Chromosome 5, 140953085: 140953085
17	DIAPH1	NM_005219.4(DIAPH1): c.1736G> A (p.Arg579His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs182139018	GRCh37	Chromosome 5, 140953681: 140953681
18	DIAPH1	NM_005219.4(DIAPH1): c.1736G> A (p.Arg579His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs182139018	GRCh38	Chromosome 5, 141574114: 141574114
19	DIAPH1	NM_005219.4(DIAPH1): c.2769delT (p.Phe923Leufs)	deletion	Pathogenic	rs863225242	GRCh38	Chromosome 5, 141529181: 141529181
20	DIAPH1	NM_005219.4(DIAPH1): c.2769delT (p.Phe923Leufs)	deletion	Pathogenic	rs863225242	GRCh37	Chromosome 5, 140908748: 140908748
21	DIAPH1	NM_005219.4(DIAPH1): c.3145C> T (p.Arg1049Ter)	single nucleotide variant	Pathogenic	rs863225243	GRCh38	Chromosome 5, 141528456: 141528456
22	DIAPH1	NM_005219.4(DIAPH1): c.3145C> T (p.Arg1049Ter)	single nucleotide variant	Pathogenic	rs863225243	GRCh37	Chromosome 5, 140908023: 140908023
23	DIAPH1	NM_005219.4(DIAPH1): c.3227T> G (p.Phe1076Cys)	single nucleotide variant	Benign/Likely benign	rs143763573	GRCh38	Chromosome 5, 141527619: 141527619
24	DIAPH1	NM_005219.4(DIAPH1): c.3227T> G (p.Phe1076Cys)	single nucleotide variant	Benign/Likely benign	rs143763573	GRCh37	Chromosome 5, 140907186: 140907186
25	DIAPH1	NM_005219.4(DIAPH1): c.2889A> G (p.Ala963=)	single nucleotide variant	Likely benign	rs770304914	GRCh38	Chromosome 5, 141528831: 141528831
26	DIAPH1	NM_005219.4(DIAPH1): c.2889A> G (p.Ala963=)	single nucleotide variant	Likely benign	rs770304914	GRCh37	Chromosome 5, 140908398: 140908398
27	DIAPH1	NM_005219.4(DIAPH1): c.1851_1853dupTCC (p.Pro620_Leu621insPro)	duplication	Benign/Likely benign	rs3075570	GRCh37	Chromosome 5, 140953564: 140953566
28	DIAPH1	NM_005219.4(DIAPH1): c.1851_1853dupTCC (p.Pro620_Leu621insPro)	duplication	Benign/Likely benign	rs3075570	GRCh38	Chromosome 5, 141573997: 141573999
29	DIAPH1	NM_005219.4(DIAPH1): c.685-5A> G	single nucleotide variant	Conflicting interpretations of pathogenicity	rs367786290	GRCh38	Chromosome 5, 141580888: 141580888
30	DIAPH1	NM_005219.4(DIAPH1): c.685-5A> G	single nucleotide variant	Conflicting interpretations of pathogenicity	rs367786290	GRCh37	Chromosome 5, 140960455: 140960455
31	DIAPH1	NM_005219.4(DIAPH1): c.1407T> C (p.Ile469=)	single nucleotide variant	Benign/Likely benign	rs75860159	GRCh37	Chromosome 5, 140955851: 140955851
32	DIAPH1	NM_005219.4(DIAPH1): c.1407T> C (p.Ile469=)	single nucleotide variant	Benign/Likely benign	rs75860159	GRCh38	Chromosome 5, 141576284: 141576284
33	DIAPH1	NM_005219.4(DIAPH1): c.627C> T (p.Tyr209=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs369494682	GRCh38	Chromosome 5, 141582369: 141582369
34	DIAPH1	NM_005219.4(DIAPH1): c.627C> T (p.Tyr209=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs369494682	GRCh37	Chromosome 5, 140961936: 140961936
35	DIAPH1	NM_005219.4(DIAPH1): c.1964C> A (p.Pro655His)	single nucleotide variant	Uncertain significance	rs367669306	GRCh38	Chromosome 5, 141573886: 141573886
36	DIAPH1	NM_005219.4(DIAPH1): c.1964C> A (p.Pro655His)	single nucleotide variant	Uncertain significance	rs367669306	GRCh37	Chromosome 5, 140953453: 140953453
37	DIAPH1	NM_005219.4(DIAPH1): c.1848_1853delTCCTCC (p.Pro619_Pro620del)	deletion	Conflicting interpretations of pathogenicity	rs3075570	GRCh38	Chromosome 5, 141573997: 141574002
38	DIAPH1	NM_005219.4(DIAPH1): c.1848_1853delTCCTCC (p.Pro619_Pro620del)	deletion	Conflicting interpretations of pathogenicity	rs3075570	GRCh37	Chromosome 5, 140953564: 140953569
39	DIAPH1	NM_005219.4(DIAPH1): c.2162C> A (p.Pro721His)	single nucleotide variant	Uncertain significance	rs373520931	GRCh38	Chromosome 5, 141573688: 141573688
40	DIAPH1	NM_005219.4(DIAPH1): c.2162C> A (p.Pro721His)	single nucleotide variant	Uncertain significance	rs373520931	GRCh37	Chromosome 5, 140953255: 140953255
41	DIAPH1	NM_005219.4(DIAPH1): c.2032C> T (p.Pro678Ser)	single nucleotide variant	Benign/Likely benign	rs186370335	GRCh38	Chromosome 5, 141573818: 141573818
42	DIAPH1	NM_005219.4(DIAPH1): c.2032C> T (p.Pro678Ser)	single nucleotide variant	Benign/Likely benign	rs186370335	GRCh37	Chromosome 5, 140953385: 140953385
43	DIAPH1	NM_005219.4(DIAPH1): c.1423G> A (p.Glu475Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs193036129	GRCh38	Chromosome 5, 141576268: 141576268
44	DIAPH1	NM_005219.4(DIAPH1): c.1423G> A (p.Glu475Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs193036129	GRCh37	Chromosome 5, 140955835: 140955835
45	DIAPH1	NM_005219.4(DIAPH1): c.3313C> T (p.Arg1105Trp)	single nucleotide variant	Uncertain significance	rs781577050	GRCh37	Chromosome 5, 140905989: 140905989
46	DIAPH1	NM_005219.4(DIAPH1): c.3313C> T (p.Arg1105Trp)	single nucleotide variant	Uncertain significance	rs781577050	GRCh38	Chromosome 5, 141526422: 141526422
47	DIAPH1	NM_005219.4(DIAPH1): c.2158C> T (p.Leu720Phe)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200606811	GRCh37	Chromosome 5, 140953259: 140953259
48	DIAPH1	NM_005219.4(DIAPH1): c.2158C> T (p.Leu720Phe)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200606811	GRCh38	Chromosome 5, 141573692: 141573692
49	DIAPH1	NM_005219.4(DIAPH1): c.2099T> A (p.Ile700Asn)	single nucleotide variant	Uncertain significance	rs199830182	GRCh37	Chromosome 5, 140953318: 140953318
50	DIAPH1	NM_005219.4(DIAPH1): c.2099T> A (p.Ile700Asn)	single nucleotide variant	Uncertain significance	rs199830182	GRCh38	Chromosome 5, 141573751: 141573751

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Expression for Seizures, Cortical Blindness, and Microcephaly Syndrome

Search GEO for disease gene expression data for Seizures, Cortical Blindness, and Microcephaly Syndrome.

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Pathways for Seizures, Cortical Blindness, and Microcephaly Syndrome

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GO Terms for Seizures, Cortical Blindness, and Microcephaly Syndrome

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Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS)

Aliases & Classifications for Seizures, Cortical Blindness, and Microcephaly Syndrome

MalaCards integrated aliases for Seizures, Cortical Blindness, and Microcephaly Syndrome:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Seizures, Cortical Blindness, and Microcephaly Syndrome

Related Diseases for Seizures, Cortical Blindness, and Microcephaly Syndrome

Symptoms & Phenotypes for Seizures, Cortical Blindness, and Microcephaly Syndrome

Human phenotypes related to Seizures, Cortical Blindness, and Microcephaly Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Seizures, Cortical Blindness, and Microcephaly Syndrome

Genetic Tests for Seizures, Cortical Blindness, and Microcephaly Syndrome

Genetic tests related to Seizures, Cortical Blindness, and Microcephaly Syndrome:

Anatomical Context for Seizures, Cortical Blindness, and Microcephaly Syndrome

MalaCards organs/tissues related to Seizures, Cortical Blindness, and Microcephaly Syndrome:

Publications for Seizures, Cortical Blindness, and Microcephaly Syndrome

Articles related to Seizures, Cortical Blindness, and Microcephaly Syndrome:

Genes for Seizures, Cortical Blindness, and Microcephaly Syndrome

Genes related to Seizures, Cortical Blindness, and Microcephaly Syndrome (1 elite genes):

Variations for Seizures, Cortical Blindness, and Microcephaly Syndrome

ClinVar genetic disease variations for Seizures, Cortical Blindness, and Microcephaly Syndrome:

Expression for Seizures, Cortical Blindness, and Microcephaly Syndrome

Pathways for Seizures, Cortical Blindness, and Microcephaly Syndrome

GO Terms for Seizures, Cortical Blindness, and Microcephaly Syndrome

Sources for Seizures, Cortical Blindness, and Microcephaly Syndrome