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 57 75 29 6
Basel-Vanagait-Smirin-Yosef Syndrome 57 40
Bvsys 57 75
Congenital Cataract-Microcephaly-Nevus Flammeus Simplex-Severe Intellectual Disability Syndrome 59

Characteristics:

OMIM:

57
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:

32
basel-vanagaite-smirin-yosef syndrome:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



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)

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 hypertelorism and ptosis

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 ptosis 32 HP:0000508
3 seizures 32 occasional (7.5%) HP:0001250
4 spasticity 32 HP:0001257
5 scoliosis 32 occasional (7.5%) HP:0002650
6 kyphosis 32 occasional (7.5%) HP:0002808
7 cataract 32 HP:0000518
8 global developmental delay 32 HP:0001263
9 microcephaly 32 HP:0000252
10 cleft palate 32 HP:0000175
11 strabismus 32 HP:0000486
12 epicanthus 32 HP:0000286
13 everted lower lip vermilion 32 HP:0000232
14 nevus 32 HP:0003764
15 ventriculomegaly 32 HP:0002119
16 short philtrum 32 HP:0000322
17 hypospadias 32 HP:0000047
18 downslanted palpebral fissures 32 HP:0000494
19 tented upper lip vermilion 32 HP:0010804
20 microcornea 32 HP:0000482
21 hydronephrosis 32 occasional (7.5%) HP:0000126
22 sparse hair 32 HP:0008070
23 generalized hypotonia 32 HP:0001290
24 hypoplasia of the corpus callosum 32 HP:0002079
25 abnormal cardiac septum morphology 32 occasional (7.5%) HP:0001671

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

46
# 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 29 MED25

Anatomical Context for Basel-Vanagaite-Smirin-Yosef Syndrome

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

41
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:

75
# 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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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