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 56 73 29 6
Scbms 56 73
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome 58
Seizures, Cortical Blindness, Microcephaly Syndrome 56

Characteristics:

OMIM:

56
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:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Seizures, Cortical Blindness, and Microcephaly Syndrome

OMIM : 56 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 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.

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:

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:

56
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 8)
# 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 Laxatives Phase 4
4 Cathartics Phase 4
5 Neurotransmitter Agents Phase 4
6 Serotonin Receptor Agonists Phase 4
7 Gastrointestinal Agents Phase 4
8
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:

40
Eye

Publications for Seizures, Cortical Blindness, and Microcephaly Syndrome

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

(show all 12)
# Title Authors PMID Year
1
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. 6 56
24781755 2015
2
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. 6
26463574 2016
3
Pericyte abnormalities precede strial capillary basement membrane thickening in Alport mice. 61
32234583 2020
4
Efficacy and safety of acupuncture for functional constipation: a randomised, sham-controlled pilot trial. 61
29903020 2018
5
Endothelin-1 mediated induction of extracellular matrix genes in strial marginal cells underlies strial pathology in Alport mice. 61
27553900 2016
6
Efficacy and Safety of Prucalopride in Chronic Constipation: An Integrated Analysis of Six Randomized, Controlled Clinical Trials. 61
27056037 2016
7
A randomized, double-blind, placebo-controlled trial to evaluate the efficacy, safety, and tolerability of long-term treatment with prucalopride. 61
25808103 2015
8
A randomized, double-blind, placebo-controlled, phase 3 trial to evaluate the efficacy, safety, and tolerability of prucalopride in men with chronic constipation. 61
25869393 2015
9
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
25273116 2014
10
Randomised clinical trial: macrogol/PEG 3350+electrolytes versus prucalopride in the treatment of chronic constipation -- a comparison in a controlled environment. 61
23480216 2013
11
Prucalopride in the treatment of chronic constipation in patients from the Asia-Pacific region: a randomized, double-blind, placebo-controlled study. 61
22882724 2012
12
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
19035970 2009

Variations for Seizures, Cortical Blindness, and Microcephaly Syndrome

ClinVar genetic disease variations for Seizures, Cortical Blindness, and Microcephaly Syndrome:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DIAPH1 NM_005219.5(DIAPH1):c.627C>A (p.Tyr209Ter)SNV Pathogenic 522646 rs369494682 5:140961936-140961936 5:141582369-141582369
2 DIAPH1 GRCh37/hg19 5q31.3(chr5:140953993-140992629)copy number loss Pathogenic 625826 5:140953993-140992629
3 DIAPH1 NC_000005.10:g.(?_141516831)_(141618934_?)deldeletion Pathogenic 831117 5:140896398-140998501
4 DIAPH1 NM_005219.5(DIAPH1):c.1549C>T (p.Gln517Ter)SNV Pathogenic 839955 5:140954626-140954626 5:141575059-141575059
5 DIAPH1 NM_005219.5(DIAPH1):c.2769del (p.Phe923fs)deletion Pathogenic 217753 rs863225242 5:140908748-140908748 5:141529181-141529181
6 DIAPH1 NM_005219.5(DIAPH1):c.3145C>T (p.Arg1049Ter)SNV Pathogenic 217754 rs863225243 5:140908023-140908023 5:141528456-141528456
7 DIAPH1 NM_005219.5(DIAPH1):c.2332C>T (p.Gln778Ter)SNV Pathogenic/Likely pathogenic 183344 rs730882242 5:140953085-140953085 5:141573518-141573518
8 DIAPH1 NM_005219.5(DIAPH1):c.77dup (p.Pro27fs)duplication Likely pathogenic 800526 5:140998404-140998405 5:141618837-141618838
9 DIAPH1 NM_005219.5(DIAPH1):c.1821_1823TCC[9] (p.Pro619_Pro620del)short repeat Conflicting interpretations of pathogenicity 351294 rs3075570 5:140953564-140953569 5:141573997-141574002
10 DIAPH1 NM_005219.5(DIAPH1):c.1423G>A (p.Glu475Lys)SNV Conflicting interpretations of pathogenicity 351296 rs193036129 5:140955835-140955835 5:141576268-141576268
11 DIAPH1 NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val)SNV Conflicting interpretations of pathogenicity 227300 rs189809247 5:140953648-140953648 5:141574081-141574081
12 DIAPH1 NM_005219.5(DIAPH1):c.685-5A>GSNV Conflicting interpretations of pathogenicity 228578 rs367786290 5:140960455-140960455 5:141580888-141580888
13 DIAPH1 NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His)SNV Conflicting interpretations of pathogenicity 194639 rs182139018 5:140953681-140953681 5:141574114-141574114
14 DIAPH1 NM_005219.5(DIAPH1):c.1821_1823TCC[8] (p.Pro618_Pro620del)short repeat Conflicting interpretations of pathogenicity 593399 rs3075570 5:140953564-140953572 5:141573997-141574005
15 DIAPH1 NM_005219.5(DIAPH1):c.2772C>T (p.Gly924=)SNV Conflicting interpretations of pathogenicity 582965 rs779376542 5:140908745-140908745 5:141529178-141529178
16 DIAPH1 NM_005219.5(DIAPH1):c.687T>C (p.Phe229=)SNV Conflicting interpretations of pathogenicity 45216 rs201149420 5:140960448-140960448 5:141580881-141580881
17 DIAPH1 NM_005219.5(DIAPH1):c.579C>T (p.Asp193=)SNV Conflicting interpretations of pathogenicity 542372 rs202061556 5:140962814-140962814 5:141583247-141583247
18 DIAPH1 NM_005219.5(DIAPH1):c.969A>G (p.Thr323=)SNV Conflicting interpretations of pathogenicity 542369 rs369453319 5:140958157-140958157 5:141578590-141578590
19 DIAPH1 NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala)SNV Conflicting interpretations of pathogenicity 542364 rs199749212 5:140953193-140953193 5:141573626-141573626
20 DIAPH1 NM_005219.5(DIAPH1):c.2158C>T (p.Leu720Phe)SNV Conflicting interpretations of pathogenicity 450432 rs200606811 5:140953259-140953259 5:141573692-141573692
21 DIAPH1 NM_005219.4(DIAPH1):c.3439-3deldeletion Conflicting interpretations of pathogenicity 475707 rs1335130331 5:140905743-140905743 5:141526176-141526176
22 DIAPH1 NM_005219.5(DIAPH1):c.3003C>G (p.Ile1001Met)SNV Uncertain significance 475705 rs1554201371 5:140908284-140908284 5:141528717-141528717
23 DIAPH1 NM_005219.5(DIAPH1):c.2009C>T (p.Pro670Leu)SNV Uncertain significance 475700 rs751847293 5:140953408-140953408 5:141573841-141573841
24 DIAPH1 NM_005219.5(DIAPH1):c.2099T>A (p.Ile700Asn)SNV Uncertain significance 475701 rs199830182 5:140953318-140953318 5:141573751-141573751
25 DIAPH1 NM_005219.5(DIAPH1):c.1269C>G (p.Asp423Glu)SNV Uncertain significance 475696 rs367981585 5:140957053-140957053 5:141577486-141577486
26 DIAPH1 NM_005219.5(DIAPH1):c.3358G>A (p.Glu1120Lys)SNV Uncertain significance 475706 rs756003432 5:140905944-140905944 5:141526377-141526377
27 DIAPH1 NM_005219.5(DIAPH1):c.3313C>T (p.Arg1105Trp)SNV Uncertain significance 444663 rs781577050 5:140905989-140905989 5:141526422-141526422
28 DIAPH1 NM_005219.5(DIAPH1):c.3701C>T (p.Ala1234Val)SNV Uncertain significance 475709 rs764739820 5:140896536-140896536 5:141516969-141516969
29 DIAPH1 NM_005219.5(DIAPH1):c.1748C>G (p.Pro583Arg)SNV Uncertain significance 542358 rs201719002 5:140953669-140953669 5:141574102-141574102
30 DIAPH1 NM_005219.5(DIAPH1):c.1821_1823TCC[14] (p.Pro618_Pro620dup)short repeat Uncertain significance 542361 rs3075570 5:140953563-140953564 5:141573996-141573997
31 DIAPH1 NM_005219.5(DIAPH1):c.3811G>T (p.Ala1271Ser)SNV Uncertain significance 542357 rs1167599945 5:140896426-140896426 5:141516859-141516859
32 DIAPH1 NM_005219.5(DIAPH1):c.3809G>A (p.Arg1270His)SNV Uncertain significance 542360 rs371664456 5:140896428-140896428 5:141516861-141516861
33 DIAPH1 NM_005219.5(DIAPH1):c.3051G>A (p.Met1017Ile)SNV Uncertain significance 504567 rs373275414 5:140908117-140908117 5:141528550-141528550
34 DIAPH1 NM_005219.5(DIAPH1):c.3574+6G>CSNV Uncertain significance 517343 rs538555634 5:140905599-140905599 5:141526032-141526032
35 DIAPH1 NM_005219.5(DIAPH1):c.3727A>G (p.Met1243Val)SNV Uncertain significance 542362 rs1554199642 5:140896510-140896510 5:141516943-141516943
36 DIAPH1 NM_005219.5(DIAPH1):c.3406A>T (p.Met1136Leu)SNV Uncertain significance 542356 rs1554200929 5:140905896-140905896 5:141526329-141526329
37 DIAPH1 NM_005219.5(DIAPH1):c.3097G>A (p.Asp1033Asn)SNV Uncertain significance 542359 rs1303934222 5:140908071-140908071 5:141528504-141528504
38 DIAPH1 NM_005219.5(DIAPH1):c.2602C>T (p.Arg868Cys)SNV Uncertain significance 542363 rs1554201531 5:140909244-140909244 5:141529677-141529677
39 DIAPH1 NM_005219.5(DIAPH1):c.2107C>T (p.Pro703Ser)SNV Uncertain significance 548628 rs201433617 5:140953310-140953310 5:141573743-141573743
40 DIAPH1 NM_005219.5(DIAPH1):c.2354C>T (p.Ser785Phe)SNV Uncertain significance 572032 rs532205362 5:140953063-140953063 5:141573496-141573496
41 DIAPH1 NM_005219.5(DIAPH1):c.217G>A (p.Ala73Thr)SNV Uncertain significance 575565 rs184081055 5:140966692-140966692 5:141587125-141587125
42 DIAPH1 NM_005219.5(DIAPH1):c.3157G>A (p.Glu1053Lys)SNV Uncertain significance 575625 rs1003389476 5:140907256-140907256 5:141527689-141527689
43 DIAPH1 NM_005219.5(DIAPH1):c.2800C>T (p.Arg934Trp)SNV Uncertain significance 573683 rs200688040 5:140908487-140908487 5:141528920-141528920
44 DIAPH1 NM_005219.5(DIAPH1):c.2668A>G (p.Met890Val)SNV Uncertain significance 574584 rs200251893 5:140909178-140909178 5:141529611-141529611
45 DIAPH1 NM_005219.5(DIAPH1):c.1280+3A>GSNV Uncertain significance 583322 rs747583916 5:140957039-140957039 5:141577472-141577472
46 DIAPH1 NM_005219.5(DIAPH1):c.724C>G (p.Leu242Val)SNV Uncertain significance 568520 rs766359994 5:140960411-140960411 5:141580844-141580844
47 DIAPH1 NM_005219.5(DIAPH1):c.3486G>A (p.Met1162Ile)SNV Uncertain significance 578439 rs747116749 5:140905693-140905693 5:141526126-141526126
48 DIAPH1 NM_005219.5(DIAPH1):c.3175C>G (p.Leu1059Val)SNV Uncertain significance 578663 rs200394036 5:140907238-140907238 5:141527671-141527671
49 DIAPH1 NM_005219.5(DIAPH1):c.3767C>T (p.Thr1256Ile)SNV Uncertain significance 655958 5:140896470-140896470 5:141516903-141516903
50 DIAPH1 NM_005219.5(DIAPH1):c.3322C>T (p.His1108Tyr)SNV Uncertain significance 655416 5:140905980-140905980 5:141526413-141526413

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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57 OMIM via Orphanet
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