BVSYS
MCID: BSL045
MIFTS: 31

Basel-Vanagaite-Smirin-Yosef Syndrome (BVSYS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Basel-Vanagaite-Smirin-Yosef Syndrome

MalaCards integrated aliases for Basel-Vanagaite-Smirin-Yosef Syndrome:

Name: Basel-Vanagaite-Smirin-Yosef Syndrome 57 58 72 29 6
Basel-Vanagait-Smirin-Yosef Syndrome 57 36 39
Bvsys 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
dysmorphic features are variable
seven patients from 4 families in israel have been reported (last curated july 2015)


HPO:

31
basel-vanagaite-smirin-yosef syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

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


Summaries for Basel-Vanagaite-Smirin-Yosef Syndrome

OMIM® : 57 Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015). (616449) (Updated 20-May-2021)

MalaCards based summary : Basel-Vanagaite-Smirin-Yosef Syndrome, also known as basel-vanagait-smirin-yosef syndrome, is related to alacrima, achalasia, and mental retardation syndrome and polymicrogyria with or without vascular-type ehlers-danlos syndrome. An important gene associated with Basel-Vanagaite-Smirin-Yosef Syndrome is MED25 (Mediator Complex Subunit 25). Affiliated tissues include eye and tongue, and related phenotypes are severe global developmental delay and nevus flammeus of the forehead

KEGG : 36 Basel-Vanagait-Smirin-Yosef syndrome (BVSYS) is a syndrome characterized by eye, brain, cardiac and palatal abnormalities as well as growth retardation, microcephaly and severe intellectual disability. It has been reported that mutations in MED25 cause this syndrome.

UniProtKB/Swiss-Prot : 72 Basel-Vanagaite-Smirin-Yosef syndrome: An autosomal recessive syndrome characterized by eye, brain, cardiac and palatal abnormalities as well as growth retardation, microcephaly and severe intellectual disability.

Related Diseases for Basel-Vanagaite-Smirin-Yosef Syndrome

Diseases related to Basel-Vanagaite-Smirin-Yosef Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.7
2 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.5
3 microcephaly 10.5
4 cleft lip 10.5
5 polymicrogyria 10.5

Graphical network of the top 20 diseases related to Basel-Vanagaite-Smirin-Yosef Syndrome:



Diseases related to Basel-Vanagaite-Smirin-Yosef Syndrome

Symptoms & Phenotypes for Basel-Vanagaite-Smirin-Yosef Syndrome

Human phenotypes related to Basel-Vanagaite-Smirin-Yosef Syndrome:

58 31 (show top 50) (show all 78)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
2 nevus flammeus of the forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0007413
3 inability to walk 58 31 hallmark (90%) Very frequent (99-80%) HP:0002540
4 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
5 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
6 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
7 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
8 everted lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000232
9 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
10 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
11 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
12 sparse scalp hair 58 31 frequent (33%) Frequent (79-30%) HP:0002209
13 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
14 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
15 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
16 microcornea 58 31 frequent (33%) Frequent (79-30%) HP:0000482
17 tented upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0010804
18 sparse eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0045075
19 exaggerated cupid's bow 58 31 frequent (33%) Frequent (79-30%) HP:0002263
20 developmental cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000519
21 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
22 prominent nasal tip 58 31 frequent (33%) Frequent (79-30%) HP:0005274
23 seizure 31 occasional (7.5%) HP:0001250
24 hypotonia 31 frequent (33%) HP:0001252
25 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
26 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
27 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
28 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
29 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
30 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
31 pectus carinatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000768
32 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
33 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
34 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
35 retrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000278
36 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
37 high, narrow palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002705
38 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
39 cholelithiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001081
40 reduced tendon reflexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001315
41 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
42 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
43 amblyopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000646
44 intellectual disability, moderate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002342
45 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
46 adducted thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0001181
47 high hypermetropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008499
48 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
49 recurrent pneumonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006532
50 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
seizures (in some patients)
delayed psychomotor development
dilated ventricles
thin corpus callosum
more
Head And Neck Mouth:
everted lower lip vermilion
cleft palate
tented upper lip
wide cupid bow

Head And Neck Face:
short philtrum

Muscle Soft Tissue:
hypotonia

Cardiovascular Heart:
septal defects (in some patients)

Skeletal Spine:
scoliosis (1 patient)
kyphosis (1 patient)

Head And Neck Eyes:
ptosis
hypertelorism
strabismus
microcornea
downslanting palpebral fissures
more
Genitourinary External Genitalia Male:
hypospadias

Skin Nails Hair Hair:
sparse hair
receding frontal hairline

Genitourinary Kidneys:
hydronephrosis (1 patient)

Head And Neck Head:
microcephaly (1 patient)

Skin Nails Hair Skin:
nevus flammeus simplex on the forehead
transparent skin

Clinical features from OMIM®:

616449 (Updated 20-May-2021)

Drugs & Therapeutics for Basel-Vanagaite-Smirin-Yosef Syndrome

Search Clinical Trials , NIH Clinical Center for Basel-Vanagaite-Smirin-Yosef Syndrome

Genetic Tests for Basel-Vanagaite-Smirin-Yosef Syndrome

Genetic tests related to Basel-Vanagaite-Smirin-Yosef Syndrome:

# Genetic test Affiliating Genes
1 Basel-Vanagaite-Smirin-Yosef Syndrome 29 MED25

Anatomical Context for Basel-Vanagaite-Smirin-Yosef Syndrome

MalaCards organs/tissues related to Basel-Vanagaite-Smirin-Yosef Syndrome:

40
Eye, Tongue

Publications for Basel-Vanagaite-Smirin-Yosef Syndrome

Articles related to Basel-Vanagaite-Smirin-Yosef Syndrome:

# Title Authors PMID Year
1
Homozygous MED25 mutation implicated in eye-intellectual disability syndrome. 6 57
25792360 2015
2
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding. 61
32816121 2021
3
Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients. 61
32324310 2020
4
Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation. 61
31602195 2019

Variations for Basel-Vanagaite-Smirin-Yosef Syndrome

ClinVar genetic disease variations for Basel-Vanagaite-Smirin-Yosef Syndrome:

6 (show all 23)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MED25 NM_030973.3(MED25):c.116A>G (p.Tyr39Cys) SNV Pathogenic 203445 rs794729668 GRCh37: 19:50321714-50321714
GRCh38: 19:49818457-49818457
2 MED25 NM_030973.3(MED25):c.1919del (p.Pro640fs) Deletion Pathogenic 619179 rs1223073957 GRCh37: 19:50339154-50339154
GRCh38: 19:49835897-49835897
3 MED25 NM_030973.3(MED25):c.316G>A (p.Gly106Arg) SNV Likely pathogenic 421749 rs535472885 GRCh37: 19:50331716-50331716
GRCh38: 19:49828459-49828459
4 MED25 NM_030973.4(MED25):c.1628_1637del (p.Asn543fs) Deletion Likely pathogenic 973234 GRCh37: 19:50338386-50338395
GRCh38: 19:49835129-49835138
5 MED25 NM_030973.3(MED25):c.556C>T (p.Arg186Trp) SNV Likely pathogenic 619180 rs776291104 GRCh37: 19:50333073-50333073
GRCh38: 19:49829816-49829816
6 MED25 NM_030973.3(MED25):c.1438C>G (p.Leu480Val) SNV Uncertain significance 216779 rs148214958 GRCh37: 19:50335628-50335628
GRCh38: 19:49832371-49832371
7 MED25 NM_030973.4(MED25):c.1855C>A (p.Gln619Lys) SNV Uncertain significance 994068 GRCh37: 19:50339092-50339092
GRCh38: 19:49835835-49835835
8 MED25 NM_030973.4(MED25):c.930A>T (p.Gln310His) SNV Uncertain significance 995689 GRCh37: 19:50333973-50333973
GRCh38: 19:49830716-49830716
9 MED25 NM_030973.4(MED25):c.377A>T (p.Asp126Val) SNV Uncertain significance 1030940 GRCh37: 19:50331777-50331777
GRCh38: 19:49828520-49828520
10 MED25 NM_030973.3(MED25):c.904C>T (p.Arg302Cys) SNV Uncertain significance 241615 rs775122561 GRCh37: 19:50333852-50333852
GRCh38: 19:49830595-49830595
11 MED25 NM_030973.4(MED25):c.1934A>G (p.Gln645Arg) SNV Uncertain significance 1032919 GRCh37: 19:50339171-50339171
GRCh38: 19:49835914-49835914
12 MED25 NM_030973.3(MED25):c.1231-8C>T SNV Likely benign 476797 rs200594031 GRCh37: 19:50335185-50335185
GRCh38: 19:49831928-49831928
13 MED25 NM_030973.3(MED25):c.664C>T (p.Leu222=) SNV Likely benign 215945 rs147538736 GRCh37: 19:50333181-50333181
GRCh38: 19:49829924-49829924
14 MED25 NM_030973.3(MED25):c.1004C>T (p.Ala335Val) SNV Likely benign 1324 rs145770066 GRCh37: 19:50334047-50334047
GRCh38: 19:49830790-49830790
15 MED25 NM_030973.3(MED25):c.1794C>T (p.Ala598=) SNV Benign 215536 rs185100172 GRCh37: 19:50339031-50339031
GRCh38: 19:49835774-49835774
16 MED25 NM_030973.3(MED25):c.597C>A (p.Ala199=) SNV Benign 379339 rs149788020 GRCh37: 19:50333114-50333114
GRCh38: 19:49829857-49829857
17 MED25 NM_030973.3(MED25):c.1727C>G (p.Ala576Gly) SNV Benign 220933 rs193291405 GRCh37: 19:50338843-50338843
GRCh38: 19:49835586-49835586
18 MED25 NM_030973.3(MED25):c.2031G>A (p.Ala677=) SNV Benign 138200 rs57854058 GRCh37: 19:50339548-50339548
GRCh38: 19:49836291-49836291
19 MED25 NM_030973.3(MED25):c.-12A>G SNV Benign 138201 rs114843375 GRCh37: 19:50321587-50321587
GRCh38: 19:49818330-49818330
20 MED25 NM_030973.3(MED25):c.1483-7C>T SNV Benign 221177 rs2017698 GRCh37: 19:50338236-50338236
GRCh38: 19:49834979-49834979
21 MED25 NM_030973.3(MED25):c.2088G>A (p.Leu696=) SNV Benign 221058 rs371157406 GRCh37: 19:50339605-50339605
GRCh38: 19:49836348-49836348
22 MED25 NM_030973.3(MED25):c.1482+19G>A SNV Benign 811662 rs4802632 GRCh37: 19:50335691-50335691
GRCh38: 19:49832434-49832434
23 MED25 NM_030973.3(MED25):c.819+14C>T SNV Benign 811694 rs188257265 GRCh37: 19:50333489-50333489
GRCh38: 19:49830232-49830232

UniProtKB/Swiss-Prot genetic disease variations for Basel-Vanagaite-Smirin-Yosef Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 MED25 p.Tyr39Cys VAR_073949 rs794729668

Expression for Basel-Vanagaite-Smirin-Yosef Syndrome

Search GEO for disease gene expression data for Basel-Vanagaite-Smirin-Yosef Syndrome.

Pathways for Basel-Vanagaite-Smirin-Yosef Syndrome

GO Terms for Basel-Vanagaite-Smirin-Yosef Syndrome

Sources for Basel-Vanagaite-Smirin-Yosef Syndrome

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45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
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68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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