BRWS1
MCID: BRT038
MIFTS: 37

Baraitser-Winter Syndrome 1 (BRWS1)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Baraitser-Winter Syndrome 1

MalaCards integrated aliases for Baraitser-Winter Syndrome 1:

Name: Baraitser-Winter Syndrome 1 57 75 13 6
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 57 75 73
Cerebrofrontofacial Syndrome 57 75 73
Fryns-Aftimos Syndrome 57 75 73
Pachygyria, Mental Retardation, Epilepsy, and Characteristic Facies 57 75
Mental Retardation with Epilepsy and Characteristic Facies 57 75
Cerebrooculofacial Lymphatic Syndrome 57 75
Chromosome 7p22 Deletion Syndrome 57 75
Brws1 57 75
Cofls 57 75
Cerebrooculofacial Lymphatic Syndrome; Cofls 57
Baraitser-Winter Syndrome, Type 1 40
Hypertelorism 44

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
some patients have a deletion of chromosome 7p22.1, consistent with a contiguous gene deletion syndrome


HPO:

32
baraitser-winter syndrome 1:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Baraitser-Winter Syndrome 1

OMIM : 57 BRWS is a rare developmental phenotype characterized by the combination of hypertelorism, broad nose with large tip and prominent root, congenital nonmyopathic ptosis, ridged metopic suture, arched eyebrows, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, and pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Intellectual disability and epilepsy are variable in severity and largely correlate with central nervous system anomalies (summary by Verloes et al., 2015). Di Donato et al. (2014) and Verloes et al. (2015) suggested that BRWS, Fryns-Aftimos syndrome, and cerebrofrontofacial syndrome represent the same clinical entity. The phenotype is highly variable (summary by Cuvertino et al., 2017). (243310)

MalaCards based summary : Baraitser-Winter Syndrome 1, also known as iris coloboma with ptosis, hypertelorism, and mental retardation, is related to hypertelorism and hypertelorism, microtia, facial clefting syndrome, and has symptoms including seizures An important gene associated with Baraitser-Winter Syndrome 1 is ACTB (Actin Beta). Affiliated tissues include brain, heart and myeloid, and related phenotypes are hypertelorism and low-set ears

UniProtKB/Swiss-Prot : 75 Baraitser-Winter syndrome 1: A rare developmental disorder characterized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain malformation consisting of anterior- predominant lissencephaly. Other typical features include postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss.

Related Diseases for Baraitser-Winter Syndrome 1

Diseases in the Baraitser-Winter Syndrome family:

Baraitser-Winter Syndrome 1 Baraitser-Winter Syndrome 2

Diseases related to Baraitser-Winter Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 299)
# Related Disease Score Top Affiliating Genes
1 hypertelorism 12.6
2 hypertelorism, microtia, facial clefting syndrome 12.4
3 hypertelorism, teebi type 12.4
4 baraitser-winter cerebrofrontofacial syndrome 12.2
5 hypertelorism, preauricular sinus, punctal pits, and deafness 12.2
6 intellectual deficit - short stature - hypertelorism 12.2
7 hypertelorism and tetralogy of fallot 12.0
8 intellectual developmental disorder with hypertelorism and distinctive facies 12.0
9 hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes 12.0
10 intellectual disability-short stature-hypertelorism syndrome 12.0
11 corpus callosum agenesis-macrocephaly-hypertelorism syndrome 12.0
12 opitz gbbb syndrome, type i 11.9
13 acrofrontofacionasal dysostosis 2 11.8
14 baraitser-winter syndrome 11.8
15 donnai-barrow syndrome 11.8
16 opitz-gbbb syndrome 11.7
17 opitz gbbb syndrome, type ii 11.7
18 seaver cassidy syndrome 11.6
19 elsahy-waters syndrome 11.6
20 hamamy syndrome 11.6
21 saethre-chotzen syndrome 11.5
22 gastrocutaneous syndrome 11.5
23 craniofacial-deafness-hand syndrome 11.5
24 wolf-hirschhorn syndrome 11.4
25 leopard syndrome 11.4
26 frontonasal dysplasia 1 11.3
27 sotos syndrome 1 11.3
28 external auditory canal, bilateral atresia of, with congenital vertical talus 11.3
29 bagatelle cassidy syndrome 11.3
30 santos mateus leal syndrome 11.3
31 leopard syndrome 1 11.2
32 noonan syndrome 1 11.2
33 3mc syndrome 2 11.2
34 mandibulofacial dysostosis with macroblepharon and macrostomia 11.2
35 telecanthus 11.1
36 gillessen-kaesbach-nishimura syndrome 11.1
37 krauss herman holmes syndrome 11.1
38 opitz-kaveggia syndrome 11.0
39 greig cephalopolysyndactyly syndrome 11.0
40 craniofrontonasal syndrome 11.0
41 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 10.9
42 ritscher-schinzel syndrome 1 10.9
43 nasodigitoacoustic syndrome 10.9
44 neu-laxova syndrome 1 10.9
45 3mc syndrome 1 10.9
46 weaver syndrome 10.9
47 acromelic frontonasal dysostosis 10.9
48 noonan syndrome-like disorder with loose anagen hair 1 10.9
49 loeys-dietz syndrome 1 10.9
50 loeys-dietz syndrome 10.9

Graphical network of the top 20 diseases related to Baraitser-Winter Syndrome 1:



Diseases related to Baraitser-Winter Syndrome 1

Symptoms & Phenotypes for Baraitser-Winter Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
ptosis
chorioretinal coloboma
prominent epicanthal folds
microphthalmia (rare)
more
Head And Neck Neck:
short neck

Growth Other:
failure to thrive
pre- and postnatal growth retardation

Head And Neck Head:
microcephaly
trigonocephaly
metopic ridging

Head And Neck Face:
long philtrum
pointed chin
midface hypoplasia
prominent/full/wide cheeks
retrognathia (in some patients)

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Mouth:
thin upper lip
large mouth
thick/prominent/everted lower lip
cleft lip/palate (in some patients)

Genitourinary External Genitalia Male:
small penis

Genitourinary Kidneys:
renal abnormalities

Skeletal Limbs:
limited extension of knees and elbows (in some patients)

Laboratory Abnormalities:
chromosome inversion - inv2(p12q14) in 2 patients

Head And Neck Ears:
low-set ears
hearing loss, sensorineural (in some patients)
abnormally shaped ears
overfolded helices

Neurologic Central Nervous System:
intellectual disability
developmental delay
hypotonia
seizures (in some patients)
enlarged ventricles (in some patients)
more
Head And Neck Nose:
short nose
broad nasal bridge
upturned nose
large, squared nose tip
prominent nasal root on profile

Growth Height:
short stature
height in childhood <5th percentile

Cardiovascular Vascular:
patent ductus arteriosus

Cardiovascular Heart:
bicuspid aortic valve
aortic stenosis

Skin Nails Hair Hair:
low posterior hair line

Growth Weight:
weight in childhood <5th percentile

Skeletal Spine:
kyphosis/scoliosis (in some patients)
pectus (in some patients)

Skeletal Feet:
duplicated hallux (rare)


Clinical features from OMIM:

243310

Human phenotypes related to Baraitser-Winter Syndrome 1:

32 (show all 44)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 short neck 32 HP:0000470
4 agenesis of corpus callosum 32 HP:0001274
5 ptosis 32 HP:0000508
6 intellectual disability 32 HP:0001249
7 seizures 32 HP:0001250
8 muscular hypotonia 32 HP:0001252
9 failure to thrive 32 HP:0001508
10 global developmental delay 32 HP:0001263
11 wide nasal bridge 32 HP:0000431
12 short nose 32 HP:0003196
13 microcephaly 32 HP:0000252
14 sensorineural hearing impairment 32 HP:0000407
15 anteverted nares 32 HP:0000463
16 short stature 32 HP:0004322
17 abnormality of metabolism/homeostasis 32 HP:0001939
18 long philtrum 32 HP:0000343
19 retrognathia 32 occasional (7.5%) HP:0000278
20 patent ductus arteriosus 32 HP:0001643
21 epicanthus 32 HP:0000286
22 cryptorchidism 32 HP:0000028
23 postnatal growth retardation 32 HP:0008897
24 low posterior hairline 32 HP:0002162
25 bicuspid aortic valve 32 HP:0001647
26 ventriculomegaly 32 occasional (7.5%) HP:0002119
27 chorioretinal coloboma 32 HP:0000567
28 wide mouth 32 HP:0000154
29 microphthalmia 32 occasional (7.5%) HP:0000568
30 overfolded helix 32 HP:0000396
31 thin upper lip vermilion 32 HP:0000219
32 pointed chin 32 HP:0000307
33 midface retrusion 32 HP:0011800
34 highly arched eyebrow 32 occasional (7.5%) HP:0002553
35 long palpebral fissure 32 HP:0000637
36 iris coloboma 32 HP:0000612
37 cleft upper lip 32 occasional (7.5%) HP:0000204
38 pachygyria 32 HP:0001302
39 oral cleft 32 occasional (7.5%) HP:0000202
40 micropenis 32 HP:0000054
41 generalized hypotonia 32 HP:0001290
42 trigonocephaly 32 HP:0000243
43 aortic valve stenosis 32 HP:0001650
44 duplication of phalanx of hallux 32 occasional (7.5%) HP:0010066

UMLS symptoms related to Baraitser-Winter Syndrome 1:


seizures

Drugs & Therapeutics for Baraitser-Winter Syndrome 1

Search Clinical Trials , NIH Clinical Center for Baraitser-Winter Syndrome 1

Cochrane evidence based reviews: hypertelorism

Genetic Tests for Baraitser-Winter Syndrome 1

Anatomical Context for Baraitser-Winter Syndrome 1

MalaCards organs/tissues related to Baraitser-Winter Syndrome 1:

41
Brain, Heart, Myeloid, Skin, Bone, Eye

Publications for Baraitser-Winter Syndrome 1

Articles related to Baraitser-Winter Syndrome 1:

# Title Authors Year
1
Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome. ( 27868373 )
2017
2
Generalized epilepsy in Baraitser-Winter cerebrofrontofacial syndrome. ( 28413780 )
2017
3
Baraitser-Winter Cerebrofrontofacial Syndrome. ( 27625340 )
2016
4
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. ( 27240540 )
2016
5
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. ( 25052316 )
2015
6
Baraitser-Winter Cerebrofrontofacial Syndrome ( 26583190 )
1993

Variations for Baraitser-Winter Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Baraitser-Winter Syndrome 1:

75
# Symbol AA change Variation ID SNP ID
1 ACTB p.Asn12Asp VAR_067810 rs281875331
2 ACTB p.Leu65Val VAR_067811 rs281875332
3 ACTB p.Arg196Cys VAR_067812 rs281875333
4 ACTB p.Arg196His VAR_067813 rs281875334

ClinVar genetic disease variations for Baraitser-Winter Syndrome 1:

6 (show top 50) (show all 104)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACTB NM_001101.4(ACTB): c.547C> T (p.Arg183Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894003 GRCh37 Chromosome 7, 5568167: 5568167
2 ACTB NM_001101.4(ACTB): c.547C> T (p.Arg183Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894003 GRCh38 Chromosome 7, 5528536: 5528536
3 ACTB NM_001101.4(ACTB): c.587G> A (p.Arg196His) single nucleotide variant Pathogenic rs281875334 GRCh37 Chromosome 7, 5568127: 5568127
4 ACTB NM_001101.4(ACTB): c.587G> A (p.Arg196His) single nucleotide variant Pathogenic rs281875334 GRCh38 Chromosome 7, 5528496: 5528496
5 ACTB NM_001101.4(ACTB): c.586C> T (p.Arg196Cys) single nucleotide variant Likely pathogenic rs281875333 GRCh37 Chromosome 7, 5568128: 5568128
6 ACTB NM_001101.4(ACTB): c.586C> T (p.Arg196Cys) single nucleotide variant Likely pathogenic rs281875333 GRCh38 Chromosome 7, 5528497: 5528497
7 ACTB NM_001101.4(ACTB): c.193C> G (p.Leu65Val) single nucleotide variant Pathogenic rs281875332 GRCh37 Chromosome 7, 5568962: 5568962
8 ACTB NM_001101.4(ACTB): c.193C> G (p.Leu65Val) single nucleotide variant Pathogenic rs281875332 GRCh38 Chromosome 7, 5529331: 5529331
9 ACTB NM_001101.4(ACTB): c.34A> G (p.Asn12Asp) single nucleotide variant Pathogenic rs281875331 GRCh37 Chromosome 7, 5569255: 5569255
10 ACTB NM_001101.4(ACTB): c.34A> G (p.Asn12Asp) single nucleotide variant Pathogenic rs281875331 GRCh38 Chromosome 7, 5529624: 5529624
11 ACTB NM_001101.4(ACTB): c.349G> A (p.Glu117Lys) single nucleotide variant Pathogenic rs397515470 GRCh37 Chromosome 7, 5568806: 5568806
12 ACTB NM_001101.4(ACTB): c.349G> A (p.Glu117Lys) single nucleotide variant Pathogenic rs397515470 GRCh38 Chromosome 7, 5529175: 5529175
13 ACTB NM_001101.4(ACTB): c.446C> T (p.Thr149Ile) single nucleotide variant Pathogenic rs587779775 GRCh37 Chromosome 7, 5568268: 5568268
14 ACTB NM_001101.4(ACTB): c.193C> T (p.Leu65Phe) single nucleotide variant Pathogenic rs281875332 GRCh37 Chromosome 7, 5568962: 5568962
15 ACTB NM_001101.4(ACTB): c.193C> T (p.Leu65Phe) single nucleotide variant Pathogenic rs281875332 GRCh38 Chromosome 7, 5529331: 5529331
16 ACTB NM_001101.4(ACTB): c.209C> T (p.Pro70Leu) single nucleotide variant Pathogenic rs587779769 GRCh37 Chromosome 7, 5568946: 5568946
17 ACTB NM_001101.4(ACTB): c.209C> T (p.Pro70Leu) single nucleotide variant Pathogenic rs587779769 GRCh38 Chromosome 7, 5529315: 5529315
18 ACTB NM_001101.4(ACTB): c.220G> A (p.Gly74Ser) single nucleotide variant Likely pathogenic rs587779770 GRCh37 Chromosome 7, 5568935: 5568935
19 ACTB NM_001101.4(ACTB): c.220G> A (p.Gly74Ser) single nucleotide variant Likely pathogenic rs587779770 GRCh38 Chromosome 7, 5529304: 5529304
20 ACTB NM_001101.4(ACTB): c.224T> C (p.Ile75Thr) single nucleotide variant Likely pathogenic rs587779771 GRCh37 Chromosome 7, 5568931: 5568931
21 ACTB NM_001101.4(ACTB): c.224T> C (p.Ile75Thr) single nucleotide variant Likely pathogenic rs587779771 GRCh38 Chromosome 7, 5529300: 5529300
22 ACTB NM_001101.4(ACTB): c.307G> C (p.Val103Leu) single nucleotide variant Pathogenic rs587779772 GRCh37 Chromosome 7, 5568848: 5568848
23 ACTB NM_001101.4(ACTB): c.307G> C (p.Val103Leu) single nucleotide variant Pathogenic rs587779772 GRCh38 Chromosome 7, 5529217: 5529217
24 ACTB NM_001101.4(ACTB): c.34A> C (p.Asn12His) single nucleotide variant Pathogenic rs281875331 GRCh37 Chromosome 7, 5569255: 5569255
25 ACTB NM_001101.4(ACTB): c.34A> C (p.Asn12His) single nucleotide variant Pathogenic rs281875331 GRCh38 Chromosome 7, 5529624: 5529624
26 ACTB NM_001101.4(ACTB): c.356T> C (p.Met119Thr) single nucleotide variant Pathogenic rs587779773 GRCh37 Chromosome 7, 5568799: 5568799
27 ACTB NM_001101.4(ACTB): c.356T> C (p.Met119Thr) single nucleotide variant Pathogenic rs587779773 GRCh38 Chromosome 7, 5529168: 5529168
28 ACTB NM_001101.4(ACTB): c.359C> T (p.Thr120Ile) single nucleotide variant Pathogenic rs587779774 GRCh37 Chromosome 7, 5568796: 5568796
29 ACTB NM_001101.4(ACTB): c.359C> T (p.Thr120Ile) single nucleotide variant Pathogenic rs587779774 GRCh38 Chromosome 7, 5529165: 5529165
30 ACTB NM_001101.4(ACTB): c.446C> T (p.Thr149Ile) single nucleotide variant Pathogenic rs587779775 GRCh38 Chromosome 7, 5528637: 5528637
31 ACTB NM_001101.4(ACTB): c.586C> A (p.Arg196Ser) single nucleotide variant Pathogenic rs281875333 GRCh37 Chromosome 7, 5568128: 5568128
32 ACTB NM_001101.4(ACTB): c.586C> A (p.Arg196Ser) single nucleotide variant Pathogenic rs281875333 GRCh38 Chromosome 7, 5528497: 5528497
33 ACTB NM_001101.4(ACTB): c.611C> G (p.Ala204Gly) single nucleotide variant Pathogenic rs587779776 GRCh37 Chromosome 7, 5568103: 5568103
34 ACTB NM_001101.4(ACTB): c.611C> G (p.Ala204Gly) single nucleotide variant Pathogenic rs587779776 GRCh38 Chromosome 7, 5528472: 5528472
35 ACTB NM_001101.4(ACTB): c.625G> A (p.Val209Met) single nucleotide variant Pathogenic/Likely pathogenic rs587779777 GRCh37 Chromosome 7, 5568089: 5568089
36 ACTB NM_001101.4(ACTB): c.625G> A (p.Val209Met) single nucleotide variant Pathogenic/Likely pathogenic rs587779777 GRCh38 Chromosome 7, 5528458: 5528458
37 ACTB NM_001101.4(ACTB): c.64G> A (p.Ala22Thr) single nucleotide variant Likely pathogenic rs587780273 GRCh37 Chromosome 7, 5569225: 5569225
38 ACTB NM_001101.4(ACTB): c.64G> A (p.Ala22Thr) single nucleotide variant Likely pathogenic rs587780273 GRCh38 Chromosome 7, 5529594: 5529594
39 ACTB NM_001101.4(ACTB): c.1023C> T (p.Ile341=) single nucleotide variant Benign rs58704474 GRCh37 Chromosome 7, 5567484: 5567484
40 ACTB NM_001101.4(ACTB): c.1023C> T (p.Ile341=) single nucleotide variant Benign rs58704474 GRCh38 Chromosome 7, 5527853: 5527853
41 ACTB NM_001101.4(ACTB): c.942G> A (p.Gln314=) single nucleotide variant Benign rs11546939 GRCh37 Chromosome 7, 5567677: 5567677
42 ACTB NM_001101.4(ACTB): c.942G> A (p.Gln314=) single nucleotide variant Benign rs11546939 GRCh38 Chromosome 7, 5528046: 5528046
43 ACTB NM_001101.4(ACTB): c.123+1G> A single nucleotide variant Uncertain significance rs794729643 GRCh37 Chromosome 7, 5569165: 5569165
44 ACTB NM_001101.4(ACTB): c.123+1G> A single nucleotide variant Uncertain significance rs794729643 GRCh38 Chromosome 7, 5529534: 5529534
45 ACTB NM_001101.4(ACTB): c.1090G> A (p.Glu364Lys) single nucleotide variant Pathogenic rs368352689 GRCh37 Chromosome 7, 5567417: 5567417
46 ACTB NM_001101.4(ACTB): c.1090G> A (p.Glu364Lys) single nucleotide variant Pathogenic rs368352689 GRCh38 Chromosome 7, 5527786: 5527786
47 ACTB NM_001101.4(ACTB): c.802G> C (p.Gly268Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 5528281: 5528281
48 ACTB NM_001101.4(ACTB): c.802G> C (p.Gly268Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 5567912: 5567912
49 ACTB NM_001101.4(ACTB): c.168C> T (p.Asp56=) single nucleotide variant Benign rs13447398 GRCh37 Chromosome 7, 5568987: 5568987
50 ACTB NM_001101.4(ACTB): c.168C> T (p.Asp56=) single nucleotide variant Benign rs13447398 GRCh38 Chromosome 7, 5529356: 5529356

Expression for Baraitser-Winter Syndrome 1

Search GEO for disease gene expression data for Baraitser-Winter Syndrome 1.

Pathways for Baraitser-Winter Syndrome 1

GO Terms for Baraitser-Winter Syndrome 1

Sources for Baraitser-Winter Syndrome 1

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