SCBMS
MCID: SZR027
MIFTS: 20

Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS)

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



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.

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:

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

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 30 DIAPH1

Anatomical Context for Seizures, Cortical Blindness, and Microcephaly Syndrome

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

42
Eye

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 )
2016
2
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. ( 24781755 )
2015

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.1848_1853delTCCTCC (p.Pro619_Pro620del) deletion Conflicting interpretations of pathogenicity rs3075570 GRCh38 Chromosome 5, 141573997: 141574002
36 DIAPH1 NM_005219.4(DIAPH1): c.1848_1853delTCCTCC (p.Pro619_Pro620del) deletion Conflicting interpretations of pathogenicity rs3075570 GRCh37 Chromosome 5, 140953564: 140953569
37 DIAPH1 NM_005219.4(DIAPH1): c.2162C> A (p.Pro721His) single nucleotide variant Uncertain significance rs373520931 GRCh38 Chromosome 5, 141573688: 141573688
38 DIAPH1 NM_005219.4(DIAPH1): c.2162C> A (p.Pro721His) single nucleotide variant Uncertain significance rs373520931 GRCh37 Chromosome 5, 140953255: 140953255
39 DIAPH1 NM_005219.4(DIAPH1): c.2032C> T (p.Pro678Ser) single nucleotide variant Benign/Likely benign rs186370335 GRCh38 Chromosome 5, 141573818: 141573818
40 DIAPH1 NM_005219.4(DIAPH1): c.2032C> T (p.Pro678Ser) single nucleotide variant Benign/Likely benign rs186370335 GRCh37 Chromosome 5, 140953385: 140953385
41 DIAPH1 NM_005219.4(DIAPH1): c.1423G> A (p.Glu475Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs193036129 GRCh38 Chromosome 5, 141576268: 141576268
42 DIAPH1 NM_005219.4(DIAPH1): c.1423G> A (p.Glu475Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs193036129 GRCh37 Chromosome 5, 140955835: 140955835
43 DIAPH1 NM_005219.4(DIAPH1): c.3313C> T (p.Arg1105Trp) single nucleotide variant Uncertain significance rs781577050 GRCh37 Chromosome 5, 140905989: 140905989
44 DIAPH1 NM_005219.4(DIAPH1): c.3313C> T (p.Arg1105Trp) single nucleotide variant Uncertain significance rs781577050 GRCh38 Chromosome 5, 141526422: 141526422
45 DIAPH1 NM_005219.4(DIAPH1): c.2158C> T (p.Leu720Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200606811 GRCh37 Chromosome 5, 140953259: 140953259
46 DIAPH1 NM_005219.4(DIAPH1): c.2158C> T (p.Leu720Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200606811 GRCh38 Chromosome 5, 141573692: 141573692
47 DIAPH1 NM_005219.4(DIAPH1): c.2099T> A (p.Ile700Asn) single nucleotide variant Uncertain significance rs199830182 GRCh37 Chromosome 5, 140953318: 140953318
48 DIAPH1 NM_005219.4(DIAPH1): c.2099T> A (p.Ile700Asn) single nucleotide variant Uncertain significance rs199830182 GRCh38 Chromosome 5, 141573751: 141573751
49 DIAPH1 NM_005219.4(DIAPH1): c.1985G> A (p.Gly662Asp) single nucleotide variant Benign rs200735096 GRCh37 Chromosome 5, 140953432: 140953432
50 DIAPH1 NM_005219.4(DIAPH1): c.1985G> A (p.Gly662Asp) single nucleotide variant Benign rs200735096 GRCh38 Chromosome 5, 141573865: 141573865

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

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