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

MCID: SZR027 MIFTS: 19	Seizures, Cortical Blindness, and Microcephaly Syndrome Categories: Genetic diseases, Neuronal diseases, Eye diseases, Fetal diseases, Rare diseases
Genes Variations Tissues Symptoms & Phenotypes Download 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 ⁵⁷ ⁷⁵ ²⁹ ⁶

Scbms ⁵⁷ ⁷⁵

Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome ⁵⁹

Seizures, Cortical Blindness, Microcephaly Syndrome ⁵⁷

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset of seizures in first months of life

HPO:

³²

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: ⁵⁹

Rare neurological diseases

Rare eye diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 616632

Orphanet ⁵⁹ ORPHA477814

MedGen ⁴² C4225261 CN233219

MeSH ⁴⁴ D008831 D012640 D019575

SNOMED-CT via HPO ⁶⁹ 258211005 271611007 76976005 more

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Summaries for Seizures, Cortical Blindness, and Microcephaly Syndrome

OMIM : ⁵⁷ 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 seizures and microcephaly

UniProtKB/Swiss-Prot : ⁷⁵ 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

Symptoms via clinical synopsis from OMIM:

⁵⁷

Growth Height:
short stature

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

Muscle Soft Tissue:
hypotonia (in some patients)

Growth Other:
poor growth

Head And Neck Eyes:
cortical blindness
optic atrophy

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

Clinical features from OMIM:

616632

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

³² (show all 8)

#	Description	HPO Frequency	HPO Source Accession
1	seizures ³²		HP:0001250
2	microcephaly ³²		HP:0000252
3	optic atrophy ³²		HP:0000648
4	short stature ³²		HP:0004322
5	hypoplasia of the corpus callosum ³²		HP:0002079
6	generalized hypotonia ³²	occasional (7.5%)	HP:0001290
7	cortical visual impairment ³²		HP:0100704
8	poor speech ³²		HP:0002465

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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 ²⁹	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:

⁴¹

Eye

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Publications for Seizures, Cortical Blindness, and Microcephaly Syndrome

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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	1404.61	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ 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 114)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	DIAPH1	NM_005219.4(DIAPH1): c.891G> A (p.Pro297=)	single nucleotide variant	Benign	rs116463365	GRCh37	Chromosome 5, 140958697: 140958697
2	DIAPH1	NM_005219.4(DIAPH1): c.891G> A (p.Pro297=)	single nucleotide variant	Benign	rs116463365	GRCh38	Chromosome 5, 141579130: 141579130
3	DIAPH1	NM_005219.4(DIAPH1): c.3765G> A (p.Glu1255=)	single nucleotide variant	Benign/Likely benign	rs35755269	GRCh37	Chromosome 5, 140896472: 140896472
4	DIAPH1	NM_005219.4(DIAPH1): c.3765G> A (p.Glu1255=)	single nucleotide variant	Benign/Likely benign	rs35755269	GRCh38	Chromosome 5, 141516905: 141516905
5	DIAPH1	NM_005219.4(DIAPH1): c.2525A> C (p.Gln842Pro)	single nucleotide variant	Benign/Likely benign	rs200220260	GRCh37	Chromosome 5, 140913958: 140913958
6	DIAPH1	NM_005219.4(DIAPH1): c.2525A> C (p.Gln842Pro)	single nucleotide variant	Benign/Likely benign	rs200220260	GRCh38	Chromosome 5, 141534391: 141534391
7	DIAPH1	NM_005219.4(DIAPH1): c.1364G> A (p.Arg455Gln)	single nucleotide variant	Uncertain significance	rs200004048	GRCh37	Chromosome 5, 140956355: 140956355
8	DIAPH1	NM_005219.4(DIAPH1): c.1364G> A (p.Arg455Gln)	single nucleotide variant	Uncertain significance	rs200004048	GRCh38	Chromosome 5, 141576788: 141576788
9	DIAPH1	NM_005219.4(DIAPH1): c.390C> T (p.Tyr130=)	single nucleotide variant	Benign/Likely benign	rs34296458	GRCh37	Chromosome 5, 140963703: 140963703
10	DIAPH1	NM_005219.4(DIAPH1): c.390C> T (p.Tyr130=)	single nucleotide variant	Benign/Likely benign	rs34296458	GRCh38	Chromosome 5, 141584136: 141584136
11	DIAPH1	NM_001079812.2(DIAPH1): c.2305C> T (p.Gln769Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs730882242	GRCh38	Chromosome 5, 141573518: 141573518
12	DIAPH1	NM_001079812.2(DIAPH1): c.2305C> T (p.Gln769Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs730882242	GRCh37	Chromosome 5, 140953085: 140953085
13	DIAPH1	NM_005219.4(DIAPH1): c.1736G> A (p.Arg579His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs182139018	GRCh37	Chromosome 5, 140953681: 140953681
14	DIAPH1	NM_005219.4(DIAPH1): c.1736G> A (p.Arg579His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs182139018	GRCh38	Chromosome 5, 141574114: 141574114
15	DIAPH1	NM_005219.4(DIAPH1): c.2769delT (p.Phe923Leufs)	deletion	Pathogenic	rs863225242	GRCh38	Chromosome 5, 141529181: 141529181
16	DIAPH1	NM_005219.4(DIAPH1): c.2769delT (p.Phe923Leufs)	deletion	Pathogenic	rs863225242	GRCh37	Chromosome 5, 140908748: 140908748
17	DIAPH1	NM_005219.4(DIAPH1): c.3145C> T (p.Arg1049Ter)	single nucleotide variant	Pathogenic	rs863225243	GRCh38	Chromosome 5, 141528456: 141528456
18	DIAPH1	NM_005219.4(DIAPH1): c.3145C> T (p.Arg1049Ter)	single nucleotide variant	Pathogenic	rs863225243	GRCh37	Chromosome 5, 140908023: 140908023
19	DIAPH1	NM_005219.4(DIAPH1): c.3227T> G (p.Phe1076Cys)	single nucleotide variant	Benign/Likely benign	rs143763573	GRCh38	Chromosome 5, 141527619: 141527619
20	DIAPH1	NM_005219.4(DIAPH1): c.3227T> G (p.Phe1076Cys)	single nucleotide variant	Benign/Likely benign	rs143763573	GRCh37	Chromosome 5, 140907186: 140907186
21	DIAPH1	NM_005219.4(DIAPH1): c.2889A> G (p.Ala963=)	single nucleotide variant	Likely benign	rs770304914	GRCh38	Chromosome 5, 141528831: 141528831
22	DIAPH1	NM_005219.4(DIAPH1): c.2889A> G (p.Ala963=)	single nucleotide variant	Likely benign	rs770304914	GRCh37	Chromosome 5, 140908398: 140908398
23	DIAPH1	NM_005219.4(DIAPH1): c.1851_1853dupTCC (p.Pro620_Leu621insPro)	duplication	Benign/Likely benign	rs761444075	GRCh37	Chromosome 5, 140953564: 140953566
24	DIAPH1	NM_005219.4(DIAPH1): c.1851_1853dupTCC (p.Pro620_Leu621insPro)	duplication	Benign/Likely benign	rs761444075	GRCh38	Chromosome 5, 141573997: 141573999
25	DIAPH1	NM_005219.4(DIAPH1): c.685-5A> G	single nucleotide variant	Conflicting interpretations of pathogenicity	rs367786290	GRCh38	Chromosome 5, 141580888: 141580888
26	DIAPH1	NM_005219.4(DIAPH1): c.685-5A> G	single nucleotide variant	Conflicting interpretations of pathogenicity	rs367786290	GRCh37	Chromosome 5, 140960455: 140960455
27	DIAPH1	NM_005219.4(DIAPH1): c.1407T> C (p.Ile469=)	single nucleotide variant	Benign/Likely benign	rs75860159	GRCh37	Chromosome 5, 140955851: 140955851
28	DIAPH1	NM_005219.4(DIAPH1): c.1407T> C (p.Ile469=)	single nucleotide variant	Benign/Likely benign	rs75860159	GRCh38	Chromosome 5, 141576284: 141576284
29	DIAPH1	NM_005219.4(DIAPH1): c.627C> T (p.Tyr209=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs369494682	GRCh37	Chromosome 5, 140961936: 140961936
30	DIAPH1	NM_005219.4(DIAPH1): c.627C> T (p.Tyr209=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs369494682	GRCh38	Chromosome 5, 141582369: 141582369
31	DIAPH1	NM_005219.4(DIAPH1): c.1964C> A (p.Pro655His)	single nucleotide variant	Uncertain significance	rs367669306	GRCh37	Chromosome 5, 140953453: 140953453
32	DIAPH1	NM_005219.4(DIAPH1): c.1964C> A (p.Pro655His)	single nucleotide variant	Uncertain significance	rs367669306	GRCh38	Chromosome 5, 141573886: 141573886
33	DIAPH1	NM_005219.4(DIAPH1): c.1848_1853delTCCTCC (p.Pro619_Pro620del)	deletion	Conflicting interpretations of pathogenicity	rs760344729	GRCh37	Chromosome 5, 140953564: 140953569
34	DIAPH1	NM_005219.4(DIAPH1): c.1848_1853delTCCTCC (p.Pro619_Pro620del)	deletion	Conflicting interpretations of pathogenicity	rs760344729	GRCh38	Chromosome 5, 141573997: 141574002
35	DIAPH1	NM_005219.4(DIAPH1): c.2162C> A (p.Pro721His)	single nucleotide variant	Uncertain significance	rs373520931	GRCh37	Chromosome 5, 140953255: 140953255
36	DIAPH1	NM_005219.4(DIAPH1): c.2162C> A (p.Pro721His)	single nucleotide variant	Uncertain significance	rs373520931	GRCh38	Chromosome 5, 141573688: 141573688
37	DIAPH1	NM_005219.4(DIAPH1): c.2032C> T (p.Pro678Ser)	single nucleotide variant	Benign/Likely benign	rs186370335	GRCh37	Chromosome 5, 140953385: 140953385
38	DIAPH1	NM_005219.4(DIAPH1): c.2032C> T (p.Pro678Ser)	single nucleotide variant	Benign/Likely benign	rs186370335	GRCh38	Chromosome 5, 141573818: 141573818
39	DIAPH1	NM_005219.4(DIAPH1): c.1423G> A (p.Glu475Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs193036129	GRCh37	Chromosome 5, 140955835: 140955835
40	DIAPH1	NM_005219.4(DIAPH1): c.1423G> A (p.Glu475Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs193036129	GRCh38	Chromosome 5, 141576268: 141576268
41	DIAPH1	NM_005219.4(DIAPH1): c.3313C> T (p.Arg1105Trp)	single nucleotide variant	Uncertain significance	rs781577050	GRCh37	Chromosome 5, 140905989: 140905989
42	DIAPH1	NM_005219.4(DIAPH1): c.3313C> T (p.Arg1105Trp)	single nucleotide variant	Uncertain significance	rs781577050	GRCh38	Chromosome 5, 141526422: 141526422
43	DIAPH1	NM_005219.4(DIAPH1): c.2158C> T (p.Leu720Phe)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200606811	GRCh37	Chromosome 5, 140953259: 140953259
44	DIAPH1	NM_005219.4(DIAPH1): c.2158C> T (p.Leu720Phe)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200606811	GRCh38	Chromosome 5, 141573692: 141573692
45	DIAPH1	NM_005219.4(DIAPH1): c.2099T> A (p.Ile700Asn)	single nucleotide variant	Uncertain significance	rs199830182	GRCh38	Chromosome 5, 141573751: 141573751
46	DIAPH1	NM_005219.4(DIAPH1): c.2099T> A (p.Ile700Asn)	single nucleotide variant	Uncertain significance	rs199830182	GRCh37	Chromosome 5, 140953318: 140953318
47	DIAPH1	NM_005219.4(DIAPH1): c.1985G> A (p.Gly662Asp)	single nucleotide variant	Benign	rs200735096	GRCh37	Chromosome 5, 140953432: 140953432
48	DIAPH1	NM_005219.4(DIAPH1): c.1985G> A (p.Gly662Asp)	single nucleotide variant	Benign	rs200735096	GRCh38	Chromosome 5, 141573865: 141573865
49	DIAPH1	NM_005219.4(DIAPH1): c.1269C> G (p.Asp423Glu)	single nucleotide variant	Uncertain significance	rs367981585	GRCh38	Chromosome 5, 141577486: 141577486
50	DIAPH1	NM_005219.4(DIAPH1): c.1269C> G (p.Asp423Glu)	single nucleotide variant	Uncertain significance	rs367981585	GRCh37	Chromosome 5, 140957053: 140957053

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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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