MCID: SZR027
MIFTS: 19

Seizures, Cortical Blindness, and Microcephaly Syndrome

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Fetal diseases, Rare diseases

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:



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.

Related Diseases for Seizures, Cortical Blindness, and Microcephaly Syndrome

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

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

Search Clinical Trials , NIH Clinical Center 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:

# Genetic test Affiliating Genes
1 Seizures, Cortical Blindness, and Microcephaly Syndrome 29 DIAPH1

Anatomical Context for Seizures, Cortical Blindness, and Microcephaly Syndrome

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

41
Eye

Publications for Seizures, Cortical Blindness, and Microcephaly Syndrome

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

Expression for Seizures, Cortical Blindness, and Microcephaly Syndrome

Search GEO for disease gene expression data 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

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