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

SCBMS MCID: SZR027 MIFTS: 29	Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS) Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Publications Symptoms & Phenotypes Drugs 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 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:

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

MeSH ⁴⁴ D008831 D012640 D019575

Orphanet ⁵⁹ ORPHA477814

MedGen ⁴² C4225261 CN233219

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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). 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.

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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:

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

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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

Prucalopride

Approved

Phase 4

179474-81-8

Lactulose

Approved

Phase 4

4618-18-2

11333

Synonyms:

(2S,3R,4S,5R,6R)-2-[(2R,3S,4S,5R)-4,5-Dihydroxy-2,5-bis(hydroxymethyl)oxolan-3-yl]oxy-6-(hydroxymethyl)oxane-3,4,5-triol

4-O-b-D-Galactopyranosyl-D-fructofuranose

4-O-b-D-Galactopyranosyl-D-fructose

4-O-beta-delta-Galactopyranosyl-delta-fructofuranose

4-O-beta-delta-Galactopyranosyl-delta-fructose

4-O-beta-D-Galactopyranosyl-D-fructofuranose

4-O-beta-D-Galactopyranosyl-D-fructose

4-O-β-D-galactopyranosyl-D-fructofuranose

4-O-β-D-galactopyranosyl-D-fructose

Amivalex

Bifiteral

Cephulac

delta-Lactulose

D-Lactulose

Duphalac

Lactulosa

Lactulose

Lactulosum

Normase

Gastrointestinal Agents

Phase 4

Neurotransmitter Agents

Phase 4

Serotonin Receptor Agonists

Phase 4

Cathartics

Phase 4

Laxatives

Phase 4

Serotonin Agents

Phase 4

Serotonin

Investigational, Nutraceutical

Phase 4

50-67-9

5202

Synonyms:

3-(2-Aminoethyl)-1H-indol-5-ol

3-(2-Aminoethyl)indol-5-ol

3-(b-Aminoethyl)-5-hydroxyindole

5 Hydroxytryptamine

5-HT

5-HTA

5-Hydroxy-3-(b-aminoethyl)indole

5-Hydroxyltryptamine

5-Hydroxytriptamine

5-Hydroxytryptamine

5-Hydroxy-tryptamine

Antemovis

DS Substance

Enteramin

Enteramine

Hippophaine

Hydroxytryptamine

Serotonine

sérotonine

thrombocytin

Thrombocytin

thrombotonin

Thrombotonin

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

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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

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	Ercan-Sencicek AG...State MW	24781755	2015
2	Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. ⁷¹	Al-Maawali A...Stoler JM	26463574	2016
3	Efficacy and safety of acupuncture for functional constipation: a randomised, sham-controlled pilot trial. ³⁸	Lee HY...Choi SM	29903020	2018
4	Endothelin-1 mediated induction of extracellular matrix genes in strial marginal cells underlies strial pathology in Alport mice. ³⁸	Meehan DT...Cosgrove D	27553900	2016
5	Efficacy and Safety of Prucalopride in Chronic Constipation: An Integrated Analysis of Six Randomized, Controlled Clinical Trials. ³⁸	Camilleri M...Levine A	27056037	2016
6	A randomized, double-blind, placebo-controlled trial to evaluate the efficacy, safety, and tolerability of long-term treatment with prucalopride. ³⁸	Piessevaux H...Levine A	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	Yiannakou Y...Levine A	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	Ke M...Kim J	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	Cinca R...Halphen M	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	Ke M...Kim HJ	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	Quigley EM...Ausma J	19035970	2009

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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	1380.16	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Genetic Tests ²⁹ 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 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

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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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Sources for Seizures, Cortical Blindness, and Microcephaly Syndrome

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³⁴ ICD10 via Orphanet

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⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

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

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

Interventional clinical trials:

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