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

SCBMS MCID: SZR027 MIFTS: 26	Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS) Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Publications Symptoms & Phenotypes 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 ⁷³ ²⁹ ⁶

Scbms ⁵⁷ ⁷³

Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome ⁵⁸

Seizures, Cortical Blindness, Microcephaly Syndrome ⁵⁷

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

Miscellaneous:
onset of seizures in first months of life

HPO:

³¹

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: ⁵⁸

Rare neurological diseases

Rare eye diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM® ⁵⁷ 616632

MeSH ⁴⁴ D008831 D012640 D019575

Orphanet ⁵⁸ ORPHA477814

MedGen ⁴¹ C4225261 CN233219

SNOMED-CT via HPO ⁶⁸ 128613002 204043002 237836003 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) (Updated 05-Mar-2021)

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 microcephaly

UniProtKB/Swiss-Prot : ⁷³ 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:

³¹ (show all 8)

#	Description	HPO Frequency	HPO Source Accession
1	generalized hypotonia ³¹	occasional (7.5%)	HP:0001290
2	microcephaly ³¹		HP:0000252
3	optic atrophy ³¹		HP:0000648
4	short stature ³¹		HP:0004322
5	hypoplasia of the corpus callosum ³¹		HP:0002079
6	cerebral visual impairment ³¹		HP:0100704
7	poor speech ³¹		HP:0002465
8	seizure ³¹		HP:0001250

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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 (Updated 05-Mar-2021)

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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:

⁴⁰

Eye

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Publications for Seizures, Cortical Blindness, and Microcephaly Syndrome

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

(show all 13)

#	Title	Authors	PMID	Year
1	Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. ⁶ ⁵⁷	Ercan-Sencicek AG...State MW	24781755	2015
2	Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. ⁶	Al-Maawali A...Stoler JM	26463574	2016
3	Pericyte abnormalities precede strial capillary basement membrane thickening in Alport mice. ⁶¹	Dufek B...Cosgrove D	32234583	2020
4	RNA-seq analysis of gene expression profiles in isolated stria vascularis from wild-type and Alport mice reveals key pathways underling Alport strial pathogenesis. ⁶¹	Dufek B...Cosgrove D	32822386	2020
5	Efficacy and safety of acupuncture for functional constipation: a randomised, sham-controlled pilot trial. ⁶¹	Lee HY...Choi SM	29903020	2018
6	Endothelin-1 mediated induction of extracellular matrix genes in strial marginal cells underlies strial pathology in Alport mice. ⁶¹	Meehan DT...Cosgrove D	27553900	2016
7	Efficacy and Safety of Prucalopride in Chronic Constipation: An Integrated Analysis of Six Randomized, Controlled Clinical Trials. ⁶¹	Camilleri M...Levine A	27056037	2016
8	A randomized, double-blind, placebo-controlled trial to evaluate the efficacy, safety, and tolerability of long-term treatment with prucalopride. ⁶¹	Piessevaux H...Levine A	25808103	2015
9	A randomized, double-blind, placebo-controlled, phase 3 trial to evaluate the efficacy, safety, and tolerability of prucalopride in men with chronic constipation. ⁶¹	Yiannakou Y...Levine A	25869393	2015
10	Effect of Prucalopride in the Treatment of Chronic Constipation in Asian and Non-Asian Women: A Pooled Analysis of 4 Randomized, Placebo-controlled Studies. ⁶¹	Ke M...Kim J	25273116	2014
11	Randomised clinical trial: macrogol/PEG 3350+electrolytes versus prucalopride in the treatment of chronic constipation -- a comparison in a controlled environment. ⁶¹	Cinca R...Halphen M	23480216	2013
12	Prucalopride in the treatment of chronic constipation in patients from the Asia-Pacific region: a randomized, double-blind, placebo-controlled study. ⁶¹	Ke M...Kim HJ	22882724	2012
13	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. ⁶¹	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	PubMed IDs
1	DIAPH1	Diaphanous Related Formin 1	Protein Coding	1395.65	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	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 171)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	DIAPH1	NM_005219.5(DIAPH1):c.2769del (p.Phe923fs)	Deletion	Pathogenic	217753	rs863225242	5:140908748-140908748	5:141529181-141529181
2	DIAPH1	NM_005219.5(DIAPH1):c.3145C>T (p.Arg1049Ter)	SNV	Pathogenic	217754	rs863225243	5:140908023-140908023	5:141528456-141528456
3	DIAPH1	NM_005219.5(DIAPH1):c.627C>A (p.Tyr209Ter)	SNV	Pathogenic	522646	rs369494682	5:140961936-140961936	5:141582369-141582369
4	DIAPH1	NM_005219.5(DIAPH1):c.2332C>T (p.Gln778Ter)	SNV	Pathogenic	183344	rs730882242	5:140953085-140953085	5:141573518-141573518
5	DIAPH1	GRCh37/hg19 5q31.3(chr5:140953993-140992629)	copy number loss	Pathogenic	625826		5:140953993-140992629
6	DIAPH1	NM_005219.5(DIAPH1):c.1549C>T (p.Gln517Ter)	SNV	Pathogenic	839955		5:140954626-140954626	5:141575059-141575059
7	DIAPH1	NM_005219.5(DIAPH1):c.2540_2541del (p.Lys847fs)	Deletion	Pathogenic	946228		5:140913942-140913943	5:141534375-141534376
8	DIAPH1	NC_000005.10:g.(?_141516831)_(141618934_?)del	Deletion	Pathogenic	831117		5:140896398-140998501
9	DIAPH1	NM_005219.5(DIAPH1):c.77dup (p.Pro27fs)	Duplication	Likely pathogenic	800526	rs1596421912	5:140998404-140998405	5:141618837-141618838
10	DIAPH1	NM_005219.5(DIAPH1):c.1269C>G (p.Asp423Glu)	SNV	Uncertain significance	475696	rs367981585	5:140957053-140957053	5:141577486-141577486
11	DIAPH1	NM_005219.5(DIAPH1):c.2009C>T (p.Pro670Leu)	SNV	Uncertain significance	475700	rs751847293	5:140953408-140953408	5:141573841-141573841
12	DIAPH1	NM_005219.5(DIAPH1):c.3358G>A (p.Glu1120Lys)	SNV	Uncertain significance	475706	rs756003432	5:140905944-140905944	5:141526377-141526377
13	DIAPH1	NM_005219.5(DIAPH1):c.3406A>T (p.Met1136Leu)	SNV	Uncertain significance	542356	rs1554200929	5:140905896-140905896	5:141526329-141526329
14	DIAPH1	NM_005219.5(DIAPH1):c.3811G>T (p.Ala1271Ser)	SNV	Uncertain significance	542357	rs1167599945	5:140896426-140896426	5:141516859-141516859
15	DIAPH1	NM_005219.5(DIAPH1):c.2158C>T (p.Leu720Phe)	SNV	Uncertain significance	450432	rs200606811	5:140953259-140953259	5:141573692-141573692
16	DIAPH1	NM_005219.5(DIAPH1):c.1748C>G (p.Pro583Arg)	SNV	Uncertain significance	542358	rs201719002	5:140953669-140953669	5:141574102-141574102
17	DIAPH1	NM_005219.5(DIAPH1):c.3097G>A (p.Asp1033Asn)	SNV	Uncertain significance	542359	rs1303934222	5:140908071-140908071	5:141528504-141528504
18	DIAPH1	NM_005219.5(DIAPH1):c.3313C>T (p.Arg1105Trp)	SNV	Uncertain significance	444663	rs781577050	5:140905989-140905989	5:141526422-141526422
19	DIAPH1	NM_005219.5(DIAPH1):c.3809G>A (p.Arg1270His)	SNV	Uncertain significance	542360	rs371664456	5:140896428-140896428	5:141516861-141516861
20	DIAPH1	NM_005219.5(DIAPH1):c.1964C>A (p.Pro655His)	SNV	Uncertain significance	351292	rs367669306	5:140953453-140953453	5:141573886-141573886
21	DIAPH1	NM_005219.5(DIAPH1):c.2162C>A (p.Pro721His)	SNV	Uncertain significance	351289	rs373520931	5:140953255-140953255	5:141573688-141573688
22	DIAPH1	NM_005219.5(DIAPH1):c.1821_1823TCC[14] (p.Pro618_Pro620dup)	Microsatellite	Uncertain significance	542361	rs3075570	5:140953563-140953564	5:141573996-141573997
23	DIAPH1	NM_005219.5(DIAPH1):c.1364G>A (p.Arg455Gln)	SNV	Uncertain significance	163074	rs200004048	5:140956355-140956355	5:141576788-141576788
24	DIAPH1	NM_005219.5(DIAPH1):c.3727A>G (p.Met1243Val)	SNV	Uncertain significance	542362	rs1554199642	5:140896510-140896510	5:141516943-141516943
25	DIAPH1	NM_005219.5(DIAPH1):c.2602C>T (p.Arg868Cys)	SNV	Uncertain significance	542363	rs1554201531	5:140909244-140909244	5:141529677-141529677
26	DIAPH1	NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala)	SNV	Uncertain significance	542364	rs199749212	5:140953193-140953193	5:141573626-141573626
27	DIAPH1	NM_005219.5(DIAPH1):c.259G>A (p.Val87Ile)	SNV	Uncertain significance	569503	rs368889655	5:140966650-140966650	5:141587083-141587083
28	DIAPH1	NM_005219.5(DIAPH1):c.2354C>T (p.Ser785Phe)	SNV	Uncertain significance	572032	rs532205362	5:140953063-140953063	5:141573496-141573496
29	DIAPH1	NM_005219.5(DIAPH1):c.3050T>C (p.Met1017Thr)	SNV	Uncertain significance	178340	rs376220834	5:140908118-140908118	5:141528551-141528551
30	DIAPH1	NM_005219.5(DIAPH1):c.2800C>T (p.Arg934Trp)	SNV	Uncertain significance	573683	rs200688040	5:140908487-140908487	5:141528920-141528920
31	DIAPH1	NM_005219.5(DIAPH1):c.2668A>G (p.Met890Val)	SNV	Uncertain significance	574584	rs200251893	5:140909178-140909178	5:141529611-141529611
32	DIAPH1	NM_005219.5(DIAPH1):c.217G>A (p.Ala73Thr)	SNV	Uncertain significance	575565	rs184081055	5:140966692-140966692	5:141587125-141587125
33	DIAPH1	NM_005219.5(DIAPH1):c.3157G>A (p.Glu1053Lys)	SNV	Uncertain significance	575625	rs1003389476	5:140907256-140907256	5:141527689-141527689
34	DIAPH1	NM_005219.5(DIAPH1):c.2424C>A (p.Asn808Lys)	SNV	Uncertain significance	577243	rs766731479	5:140951542-140951542	5:141571975-141571975
35	DIAPH1	NM_005219.5(DIAPH1):c.3486G>A (p.Met1162Ile)	SNV	Uncertain significance	578439	rs747116749	5:140905693-140905693	5:141526126-141526126
36	DIAPH1	NM_005219.5(DIAPH1):c.3175C>G (p.Leu1059Val)	SNV	Uncertain significance	578663	rs200394036	5:140907238-140907238	5:141527671-141527671
37	DIAPH1	NM_005219.5(DIAPH1):c.1639G>C (p.Glu547Gln)	SNV	Uncertain significance	581935	rs1317819365	5:140954536-140954536	5:141574969-141574969
38	DIAPH1	NM_005219.5(DIAPH1):c.2772C>T (p.Gly924=)	SNV	Uncertain significance	582965	rs779376542	5:140908745-140908745	5:141529178-141529178
39	DIAPH1	NM_005219.5(DIAPH1):c.1280+3A>G	SNV	Uncertain significance	583322	rs747583916	5:140957039-140957039	5:141577472-141577472
40	DIAPH1	NM_005219.5(DIAPH1):c.44G>A (p.Arg15Gln)	SNV	Uncertain significance	639045	rs1596422064	5:140998438-140998438	5:141618871-141618871
41	DIAPH1	NM_005219.5(DIAPH1):c.1151G>T (p.Arg384Leu)	SNV	Uncertain significance	644123	rs200927557	5:140957804-140957804	5:141578237-141578237
42	DIAPH1	NM_005219.5(DIAPH1):c.1409A>G (p.Asp470Gly)	SNV	Uncertain significance	645115	rs1596381822	5:140955849-140955849	5:141576282-141576282
43	DIAPH1	NM_005219.5(DIAPH1):c.3318G>A (p.Met1106Ile)	SNV	Uncertain significance	646075	rs1596337513	5:140905984-140905984	5:141526417-141526417
44	DIAPH1	NM_005219.5(DIAPH1):c.1565C>T (p.Ala522Val)	SNV	Uncertain significance	647693	rs373896015	5:140954610-140954610	5:141575043-141575043
45	DIAPH1	NM_005219.5(DIAPH1):c.3230C>G (p.Pro1077Arg)	SNV	Uncertain significance	163067	rs376593325	5:140907183-140907183	5:141527616-141527616
46	DIAPH1	NM_005219.5(DIAPH1):c.2365G>A (p.Ala789Thr)	SNV	Uncertain significance	647923	rs1596376794	5:140951601-140951601	5:141572034-141572034
47	DIAPH1	NM_005219.5(DIAPH1):c.1571A>T (p.His524Leu)	SNV	Uncertain significance	648734	rs369527502	5:140954604-140954604	5:141575037-141575037
48	DIAPH1	NM_005219.5(DIAPH1):c.2107C>G (p.Pro703Ala)	SNV	Uncertain significance	228575	rs201433617	5:140953310-140953310	5:141573743-141573743
49	DIAPH1	NM_005219.5(DIAPH1):c.234T>G (p.Asp78Glu)	SNV	Uncertain significance	651079	rs1292590118	5:140966675-140966675	5:141587108-141587108
50	DIAPH1	NM_005219.5(DIAPH1):c.1753G>C (p.Ala585Pro)	SNV	Uncertain significance	651087	rs200973081	5:140953664-140953664	5:141574097-141574097

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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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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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

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