BVSYS
MCID: BSL045
MIFTS: 24

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 58 76 30 6
Basel-Vanagait-Smirin-Yosef Syndrome 58 41
Bvsys 58 76
Congenital Cataract-Microcephaly-Nevus Flammeus Simplex-Severe Intellectual Disability Syndrome 60

Characteristics:

OMIM:

58
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:

33
basel-vanagaite-smirin-yosef syndrome:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Basel-Vanagaite-Smirin-Yosef Syndrome

OMIM : 58 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)

MalaCards based summary : Basel-Vanagaite-Smirin-Yosef Syndrome, is also known as basel-vanagait-smirin-yosef syndrome. An important gene associated with Basel-Vanagaite-Smirin-Yosef Syndrome is MED25 (Mediator Complex Subunit 25). Affiliated tissues include eye, brain and skin, and related phenotypes are seizures and scoliosis

UniProtKB/Swiss-Prot : 76 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

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

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

33 (show all 25)
# Description HPO Frequency HPO Source Accession
1 seizures 33 occasional (7.5%) HP:0001250
2 scoliosis 33 occasional (7.5%) HP:0002650
3 kyphosis 33 occasional (7.5%) HP:0002808
4 hydronephrosis 33 occasional (7.5%) HP:0000126
5 abnormal cardiac septum morphology 33 occasional (7.5%) HP:0001671
6 hypertelorism 33 HP:0000316
7 ptosis 33 HP:0000508
8 spasticity 33 HP:0001257
9 cataract 33 HP:0000518
10 global developmental delay 33 HP:0001263
11 microcephaly 33 HP:0000252
12 cleft palate 33 HP:0000175
13 strabismus 33 HP:0000486
14 epicanthus 33 HP:0000286
15 everted lower lip vermilion 33 HP:0000232
16 nevus 33 HP:0003764
17 ventriculomegaly 33 HP:0002119
18 short philtrum 33 HP:0000322
19 hypospadias 33 HP:0000047
20 downslanted palpebral fissures 33 HP:0000494
21 tented upper lip vermilion 33 HP:0010804
22 microcornea 33 HP:0000482
23 sparse hair 33 HP:0008070
24 generalized hypotonia 33 HP:0001290
25 hypoplasia of the corpus callosum 33 HP:0002079

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
ptosis
strabismus
microcornea
downslanting palpebral fissures
more
Head And Neck Mouth:
cleft palate
everted lower lip vermilion
tented upper lip
wide cupid bow

Genitourinary External Genitalia Male:
hypospadias

Muscle Soft Tissue:
hypotonia

Cardiovascular Heart:
septal defects (in some patients)

Head And Neck Head:
microcephaly (1 patient)

Neurologic Central Nervous System:
spasticity
delayed psychomotor development
seizures (in some patients)
thin corpus callosum
dilated ventricles
more
Head And Neck Face:
short philtrum

Skin Nails Hair Hair:
sparse hair
receding frontal hairline

Genitourinary Kidneys:
hydronephrosis (1 patient)

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

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

Clinical features from OMIM:

616449

MGI Mouse Phenotypes related to Basel-Vanagaite-Smirin-Yosef Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.62 FUZ MED25

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 30 MED25

Anatomical Context for Basel-Vanagaite-Smirin-Yosef Syndrome

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

42
Eye, Brain, Skin

Publications for Basel-Vanagaite-Smirin-Yosef Syndrome

Variations for Basel-Vanagaite-Smirin-Yosef Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 MED25 p.Tyr39Cys VAR_073949 rs794729668

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MED25 NM_030973.3(MED25): c.116A> G (p.Tyr39Cys) single nucleotide variant Pathogenic rs794729668 GRCh38 Chromosome 19, 49818457: 49818457
2 MED25 NM_030973.3(MED25): c.116A> G (p.Tyr39Cys) single nucleotide variant Pathogenic rs794729668 GRCh37 Chromosome 19, 50321714: 50321714
3 MED25 NM_030973.3: c.1919delC deletion Pathogenic GRCh38 Chromosome 19, 49835899: 49835899
4 MED25 NM_030973.3: c.1919delC deletion Pathogenic GRCh37 Chromosome 19, 50339156: 50339156
5 MED25 NM_030973.3(MED25): c.556C> T (p.Arg186Trp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 19, 49829816: 49829816
6 MED25 NM_030973.3(MED25): c.556C> T (p.Arg186Trp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 19, 50333073: 50333073

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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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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20 FMA
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35 ICD10 via Orphanet
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59 OMIM via Orphanet
63 PubMed
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70 SNOMED-CT via HPO
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73 Tocris
74 UMLS
75 UMLS via Orphanet
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