SCBMS
MCID: SZR027
MIFTS: 29

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 57 74 29 6
Scbms 57 74
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:



External Ids:

OMIM 57 616632
Orphanet 59 ORPHA477814

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). The drugs Prucalopride and Lactulose have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are generalized hypotonia and seizures

UniProtKB/Swiss-Prot : 74 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:

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

Symptoms via clinical synopsis from OMIM:

57
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

Drugs for Seizures, Cortical Blindness, and Microcephaly Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prucalopride Approved Phase 4 179474-81-8
2
Lactulose Approved Phase 4 4618-18-2 11333
3 Gastrointestinal Agents Phase 4
4 Neurotransmitter Agents Phase 4
5 Serotonin Receptor Agonists Phase 4
6 Cathartics Phase 4
7 Laxatives Phase 4
8 Serotonin Agents Phase 4
9
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Multicenter, Single-Arm, Interventional, Phase 4 Study to Evaluate the Efficacy and Safety of Prucalopride in Combination With PEG or Lactulose in Women With Chronic Constipation (CC) Completed NCT02228616 Phase 4 Prucalopride;Polyethylene glycol (PEG);Lactulose
2 A Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Prucalopride (Resolor) Tablets in Participants With Chronic Constipation Completed NCT01116206 Phase 3 Prucalopride;Placebo

Search 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

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

(show all 11)
# Title Authors PMID Year
1
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. 8 71
24781755 2015
2
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. 71
26463574 2016
3
Efficacy and safety of acupuncture for functional constipation: a randomised, sham-controlled pilot trial. 38
29903020 2018
4
Endothelin-1 mediated induction of extracellular matrix genes in strial marginal cells underlies strial pathology in Alport mice. 38
27553900 2016
5
Efficacy and Safety of Prucalopride in Chronic Constipation: An Integrated Analysis of Six Randomized, Controlled Clinical Trials. 38
27056037 2016
6
A randomized, double-blind, placebo-controlled trial to evaluate the efficacy, safety, and tolerability of long-term treatment with prucalopride. 38
25808103 2015
7
A randomized, double-blind, placebo-controlled, phase 3 trial to evaluate the efficacy, safety, and tolerability of prucalopride in men with chronic constipation. 38
25869393 2015
8
Effect of Prucalopride in the Treatment of Chronic Constipation in Asian and Non-Asian Women: A Pooled Analysis of 4 Randomized, Placebo-controlled Studies. 38
25273116 2014
9
Randomised clinical trial: macrogol/PEG 3350+electrolytes versus prucalopride in the treatment of chronic constipation -- a comparison in a controlled environment. 38
23480216 2013
10
Prucalopride in the treatment of chronic constipation in patients from the Asia-Pacific region: a randomized, double-blind, placebo-controlled study. 38
22882724 2012
11
Clinical trial: the efficacy, impact on quality of life, and safety and tolerability of prucalopride in severe chronic constipation--a 12-week, randomized, double-blind, placebo-controlled study. 38
19035970 2009

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 100)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DIAPH1 NM_005219.5(DIAPH1): c.2769del (p.Phe923fs) deletion Pathogenic rs863225242 5:140908748-140908748 5:141529181-141529181
2 DIAPH1 NM_005219.5(DIAPH1): c.3145C> T (p.Arg1049Ter) single nucleotide variant Pathogenic rs863225243 5:140908023-140908023 5:141528456-141528456
3 DIAPH1 GRCh37/hg19 5q31.3(chr5: 140953993-140992629) copy number loss Pathogenic 5:140953993-140992629 :0-0
4 DIAPH1 NM_005219.5(DIAPH1): c.2332C> T (p.Gln778Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882242 5:140953085-140953085 5:141573518-141573518
5 DIAPH1 NM_005219.5(DIAPH1): c.627C> A (p.Tyr209Ter) single nucleotide variant Likely pathogenic rs369494682 5:140961936-140961936 5:141582369-141582369
6 DIAPH1 NM_005219.5(DIAPH1): c.2158C> T (p.Leu720Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200606811 5:140953259-140953259 5:141573692-141573692
7 DIAPH1 NM_005219.5(DIAPH1): c.1736G> A (p.Arg579His) single nucleotide variant Conflicting interpretations of pathogenicity rs182139018 5:140953681-140953681 5:141574114-141574114
8 DIAPH1 NM_005219.5(DIAPH1): c.685-5A> G single nucleotide variant Conflicting interpretations of pathogenicity rs367786290 5:140960455-140960455 5:141580888-141580888
9 DIAPH1 NM_005219.5(DIAPH1): c.1423G> A (p.Glu475Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs193036129 5:140955835-140955835 5:141576268-141576268
10 DIAPH1 NM_005219.5(DIAPH1): c.627C> T (p.Tyr209=) single nucleotide variant Conflicting interpretations of pathogenicity rs369494682 5:140961936-140961936 5:141582369-141582369
11 DIAPH1 NM_005219.5(DIAPH1): c.1821_1823TCC[9] (p.Pro619_Pro620del) short repeat Conflicting interpretations of pathogenicity rs3075570 5:140953564-140953569 5:141573997-141574002
12 DIAPH1 NM_005219.5(DIAPH1): c.1821_1823TCC[8] (p.Pro618_Pro620del) short repeat Conflicting interpretations of pathogenicity 5:140953564-140953572 5:141573997-141574005
13 DIAPH1 NM_005219.5(DIAPH1): c.2162C> A (p.Pro721His) single nucleotide variant Uncertain significance rs373520931 5:140953255-140953255 5:141573688-141573688
14 DIAPH1 NM_005219.5(DIAPH1): c.1964C> A (p.Pro655His) single nucleotide variant Uncertain significance rs367669306 5:140953453-140953453 5:141573886-141573886
15 DIAPH1 NM_005219.5(DIAPH1): c.3767C> T (p.Thr1256Ile) single nucleotide variant Uncertain significance 5:140896470-140896470 5:141516903-141516903
16 DIAPH1 NM_005219.5(DIAPH1): c.3322C> T (p.His1108Tyr) single nucleotide variant Uncertain significance 5:140905980-140905980 5:141526413-141526413
17 DIAPH1 NM_005219.5(DIAPH1): c.3318G> A (p.Met1106Ile) single nucleotide variant Uncertain significance 5:140905984-140905984 5:141526417-141526417
18 DIAPH1 NM_005219.5(DIAPH1): c.2944C> T (p.Leu982Phe) single nucleotide variant Uncertain significance 5:140908343-140908343 5:141528776-141528776
19 DIAPH1 NM_005219.5(DIAPH1): c.2841C> T (p.Ser947=) single nucleotide variant Uncertain significance 5:140908446-140908446 5:141528879-141528879
20 DIAPH1 NM_005219.5(DIAPH1): c.2758T> C (p.Ser920Pro) single nucleotide variant Uncertain significance 5:140908759-140908759 5:141529192-141529192
21 DIAPH1 NM_005219.5(DIAPH1): c.2365G> T (p.Ala789Ser) single nucleotide variant Uncertain significance 5:140951601-140951601 5:141572034-141572034
22 DIAPH1 NM_005219.5(DIAPH1): c.2365G> A (p.Ala789Thr) single nucleotide variant Uncertain significance 5:140951601-140951601 5:141572034-141572034
23 DIAPH1 NM_005219.5(DIAPH1): c.2141C> T (p.Pro714Leu) single nucleotide variant Uncertain significance 5:140953276-140953276 5:141573709-141573709
24 DIAPH1 NM_005219.5(DIAPH1): c.2137A> G (p.Met713Val) single nucleotide variant Uncertain significance 5:140953280-140953280 5:141573713-141573713
25 DIAPH1 NM_005219.5(DIAPH1): c.1852_1860dup (p.Pro618_Pro620dup) duplication Uncertain significance 5:140953556-140953557 5:141573996-141574004
26 DIAPH1 NM_005219.5(DIAPH1): c.1859C> T (p.Pro620Leu) single nucleotide variant Uncertain significance 5:140953558-140953558 5:141573991-141573991
27 DIAPH1 NM_005219.5(DIAPH1): c.1753G> C (p.Ala585Pro) single nucleotide variant Uncertain significance 5:140953664-140953664 5:141574097-141574097
28 DIAPH1 NM_005219.5(DIAPH1): c.1571A> T (p.His524Leu) single nucleotide variant Uncertain significance 5:140954604-140954604 5:141575037-141575037
29 DIAPH1 NM_005219.5(DIAPH1): c.1565C> T (p.Ala522Val) single nucleotide variant Uncertain significance 5:140954610-140954610 5:141575043-141575043
30 DIAPH1 NM_005219.5(DIAPH1): c.1409A> G (p.Asp470Gly) single nucleotide variant Uncertain significance 5:140955849-140955849 5:141576282-141576282
31 DIAPH1 NM_005219.5(DIAPH1): c.1151G> T (p.Arg384Leu) single nucleotide variant Uncertain significance 5:140957804-140957804 5:141578237-141578237
32 DIAPH1 NM_005219.5(DIAPH1): c.556G> C (p.Glu186Gln) single nucleotide variant Uncertain significance 5:140962837-140962837 5:141583270-141583270
33 DIAPH1 NM_005219.5(DIAPH1): c.234T> G (p.Asp78Glu) single nucleotide variant Uncertain significance 5:140966675-140966675 5:141587108-141587108
34 DIAPH1 NM_005219.5(DIAPH1): c.44G> A (p.Arg15Gln) single nucleotide variant Uncertain significance 5:140998438-140998438 5:141618871-141618871
35 DIAPH1 NM_005219.5(DIAPH1): c.2354C> T (p.Ser785Phe) single nucleotide variant Uncertain significance 5:140953063-140953063 5:141573496-141573496
36 DIAPH1 NM_005219.5(DIAPH1): c.217G> A (p.Ala73Thr) single nucleotide variant Uncertain significance 5:140966692-140966692 5:141587125-141587125
37 DIAPH1 NM_005219.5(DIAPH1): c.3157G> A (p.Glu1053Lys) single nucleotide variant Uncertain significance 5:140907256-140907256 5:141527689-141527689
38 DIAPH1 NM_005219.5(DIAPH1): c.2800C> T (p.Arg934Trp) single nucleotide variant Uncertain significance 5:140908487-140908487 5:141528920-141528920
39 DIAPH1 NM_005219.5(DIAPH1): c.2668A> G (p.Met890Val) single nucleotide variant Uncertain significance 5:140909178-140909178 5:141529611-141529611
40 DIAPH1 NM_005219.5(DIAPH1): c.1280+3A> G single nucleotide variant Uncertain significance 5:140957039-140957039 5:141577472-141577472
41 DIAPH1 NM_005219.5(DIAPH1): c.724C> G (p.Leu242Val) single nucleotide variant Uncertain significance 5:140960411-140960411 5:141580844-141580844
42 DIAPH1 NM_005219.5(DIAPH1): c.3486G> A (p.Met1162Ile) single nucleotide variant Uncertain significance 5:140905693-140905693 5:141526126-141526126
43 DIAPH1 NM_005219.5(DIAPH1): c.3175C> G (p.Leu1059Val) single nucleotide variant Uncertain significance 5:140907238-140907238 5:141527671-141527671
44 DIAPH1 NM_005219.5(DIAPH1): c.1821_1823TCC[16] (p.Pro616_Pro620dup) short repeat Uncertain significance 5:140953564-140953578 5:141573997-141574011
45 DIAPH1 NM_005219.5(DIAPH1): c.2772C> T (p.Gly924=) single nucleotide variant Uncertain significance 5:140908745-140908745 5:141529178-141529178
46 DIAPH1 NM_005219.5(DIAPH1): c.2424C> A (p.Asn808Lys) single nucleotide variant Uncertain significance 5:140951542-140951542 5:141571975-141571975
47 DIAPH1 NM_005219.5(DIAPH1): c.1848_1862del (p.Pro618_Pro622del) deletion Uncertain significance 5:140953555-140953569 5:141573988-141574002
48 DIAPH1 NM_005219.5(DIAPH1): c.1639G> C (p.Glu547Gln) single nucleotide variant Uncertain significance 5:140954536-140954536 5:141574969-141574969
49 DIAPH1 NM_005219.5(DIAPH1): c.259G> A (p.Val87Ile) single nucleotide variant Uncertain significance 5:140966650-140966650 5:141587083-141587083
50 DIAPH1 NM_005219.5(DIAPH1): c.2107C> G (p.Pro703Ala) single nucleotide variant Uncertain significance rs201433617 5:140953310-140953310 5:141573743-141573743

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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