SCBMS
MCID: SZR027
MIFTS: 26

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 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:

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


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.

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®:

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)

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 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 13)
# Title Authors PMID Year
1
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. 6 57
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
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
32822386 2020
5
Efficacy and safety of acupuncture for functional constipation: a randomised, sham-controlled pilot trial. 61
29903020 2018
6
Endothelin-1 mediated induction of extracellular matrix genes in strial marginal cells underlies strial pathology in Alport mice. 61
27553900 2016
7
Efficacy and Safety of Prucalopride in Chronic Constipation: An Integrated Analysis of Six Randomized, Controlled Clinical Trials. 61
27056037 2016
8
A randomized, double-blind, placebo-controlled trial to evaluate the efficacy, safety, and tolerability of long-term treatment with prucalopride. 61
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
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
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
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
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
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 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

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

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
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30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
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72 UMLS via Orphanet
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