BRWS1
MCID: BRT038
MIFTS: 36

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 58 76 13 6
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 58 76 74
Cerebrofrontofacial Syndrome 58 76 74
Fryns-Aftimos Syndrome 58 76 74
Pachygyria, Mental Retardation, Epilepsy, and Characteristic Facies 58 76
Mental Retardation with Epilepsy and Characteristic Facies 58 76
Cerebrooculofacial Lymphatic Syndrome 58 76
Chromosome 7p22 Deletion Syndrome 58 76
Brws1 58 76
Cofls 58 76
Cerebrooculofacial Lymphatic Syndrome; Cofls 58
Baraitser-Winter Syndrome, Type 1 41
Hypertelorism 45

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
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 : 58 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, teebi type, 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 retrognathia and ventriculomegaly

UniProtKB/Swiss-Prot : 76 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 300)
# Related Disease Score Top Affiliating Genes
1 hypertelorism 12.6
2 hypertelorism, teebi type 12.5
3 hypertelorism, microtia, facial clefting syndrome 12.4
4 baraitser-winter cerebrofrontofacial syndrome 12.3
5 intellectual developmental disorder with hypertelorism and distinctive facies 12.3
6 hypertelorism, preauricular sinus, punctal pits, and deafness 12.2
7 intellectual deficit - short stature - hypertelorism 12.2
8 hypertelorism and tetralogy of fallot 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 11.8
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 11.1
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

Human phenotypes related to Baraitser-Winter Syndrome 1:

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

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
Brain, Heart, Myeloid

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:

76
# 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 106)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACTB NM_001101.4(ACTB): c.123+1G> A single nucleotide variant Uncertain significance rs794729643 GRCh37 Chromosome 7, 5569165: 5569165
2 ACTB NM_001101.4(ACTB): c.123+1G> A single nucleotide variant Uncertain significance rs794729643 GRCh38 Chromosome 7, 5529534: 5529534
3 ACTB NM_001101.4(ACTB): c.1090G> A (p.Glu364Lys) single nucleotide variant Pathogenic rs368352689 GRCh37 Chromosome 7, 5567417: 5567417
4 ACTB NM_001101.4(ACTB): c.1090G> A (p.Glu364Lys) single nucleotide variant Pathogenic rs368352689 GRCh38 Chromosome 7, 5527786: 5527786
5 ACTB NM_001101.4(ACTB): c.547C> T (p.Arg183Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894003 GRCh37 Chromosome 7, 5568167: 5568167
6 ACTB NM_001101.4(ACTB): c.547C> T (p.Arg183Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894003 GRCh38 Chromosome 7, 5528536: 5528536
7 ACTB NM_001101.4(ACTB): c.587G> A (p.Arg196His) single nucleotide variant Pathogenic rs281875334 GRCh37 Chromosome 7, 5568127: 5568127
8 ACTB NM_001101.4(ACTB): c.587G> A (p.Arg196His) single nucleotide variant Pathogenic rs281875334 GRCh38 Chromosome 7, 5528496: 5528496
9 ACTB NM_001101.4(ACTB): c.586C> T (p.Arg196Cys) single nucleotide variant Likely pathogenic rs281875333 GRCh37 Chromosome 7, 5568128: 5568128
10 ACTB NM_001101.4(ACTB): c.586C> T (p.Arg196Cys) single nucleotide variant Likely pathogenic rs281875333 GRCh38 Chromosome 7, 5528497: 5528497
11 ACTB NM_001101.4(ACTB): c.193C> G (p.Leu65Val) single nucleotide variant Pathogenic rs281875332 GRCh37 Chromosome 7, 5568962: 5568962
12 ACTB NM_001101.4(ACTB): c.193C> G (p.Leu65Val) single nucleotide variant Pathogenic rs281875332 GRCh38 Chromosome 7, 5529331: 5529331
13 ACTB NM_001101.4(ACTB): c.34A> G (p.Asn12Asp) single nucleotide variant Pathogenic rs281875331 GRCh37 Chromosome 7, 5569255: 5569255
14 ACTB NM_001101.4(ACTB): c.34A> G (p.Asn12Asp) single nucleotide variant Pathogenic rs281875331 GRCh38 Chromosome 7, 5529624: 5529624
15 ACTB NM_001101.4(ACTB): c.349G> A (p.Glu117Lys) single nucleotide variant Pathogenic rs397515470 GRCh37 Chromosome 7, 5568806: 5568806
16 ACTB NM_001101.4(ACTB): c.349G> A (p.Glu117Lys) single nucleotide variant Pathogenic rs397515470 GRCh38 Chromosome 7, 5529175: 5529175
17 ACTB NM_001101.4(ACTB): c.193C> T (p.Leu65Phe) single nucleotide variant Pathogenic rs281875332 GRCh37 Chromosome 7, 5568962: 5568962
18 ACTB NM_001101.4(ACTB): c.193C> T (p.Leu65Phe) single nucleotide variant Pathogenic rs281875332 GRCh38 Chromosome 7, 5529331: 5529331
19 ACTB NM_001101.4(ACTB): c.209C> T (p.Pro70Leu) single nucleotide variant Pathogenic rs587779769 GRCh37 Chromosome 7, 5568946: 5568946
20 ACTB NM_001101.4(ACTB): c.209C> T (p.Pro70Leu) single nucleotide variant Pathogenic rs587779769 GRCh38 Chromosome 7, 5529315: 5529315
21 ACTB NM_001101.4(ACTB): c.220G> A (p.Gly74Ser) single nucleotide variant Likely pathogenic rs587779770 GRCh37 Chromosome 7, 5568935: 5568935
22 ACTB NM_001101.4(ACTB): c.220G> A (p.Gly74Ser) single nucleotide variant Likely pathogenic rs587779770 GRCh38 Chromosome 7, 5529304: 5529304
23 ACTB NM_001101.4(ACTB): c.224T> C (p.Ile75Thr) single nucleotide variant Likely pathogenic rs587779771 GRCh37 Chromosome 7, 5568931: 5568931
24 ACTB NM_001101.4(ACTB): c.224T> C (p.Ile75Thr) single nucleotide variant Likely pathogenic rs587779771 GRCh38 Chromosome 7, 5529300: 5529300
25 ACTB NM_001101.4(ACTB): c.307G> C (p.Val103Leu) single nucleotide variant Pathogenic rs587779772 GRCh37 Chromosome 7, 5568848: 5568848
26 ACTB NM_001101.4(ACTB): c.307G> C (p.Val103Leu) single nucleotide variant Pathogenic rs587779772 GRCh38 Chromosome 7, 5529217: 5529217
27 ACTB NM_001101.4(ACTB): c.34A> C (p.Asn12His) single nucleotide variant Pathogenic rs281875331 GRCh37 Chromosome 7, 5569255: 5569255
28 ACTB NM_001101.4(ACTB): c.34A> C (p.Asn12His) single nucleotide variant Pathogenic rs281875331 GRCh38 Chromosome 7, 5529624: 5529624
29 ACTB NM_001101.4(ACTB): c.356T> C (p.Met119Thr) single nucleotide variant Pathogenic rs587779773 GRCh37 Chromosome 7, 5568799: 5568799
30 ACTB NM_001101.4(ACTB): c.356T> C (p.Met119Thr) single nucleotide variant Pathogenic rs587779773 GRCh38 Chromosome 7, 5529168: 5529168
31 ACTB NM_001101.4(ACTB): c.359C> T (p.Thr120Ile) single nucleotide variant Pathogenic rs587779774 GRCh37 Chromosome 7, 5568796: 5568796
32 ACTB NM_001101.4(ACTB): c.359C> T (p.Thr120Ile) single nucleotide variant Pathogenic rs587779774 GRCh38 Chromosome 7, 5529165: 5529165
33 ACTB NM_001101.4(ACTB): c.446C> T (p.Thr149Ile) single nucleotide variant Pathogenic rs587779775 GRCh37 Chromosome 7, 5568268: 5568268
34 ACTB NM_001101.4(ACTB): c.446C> T (p.Thr149Ile) single nucleotide variant Pathogenic rs587779775 GRCh38 Chromosome 7, 5528637: 5528637
35 ACTB NM_001101.4(ACTB): c.586C> A (p.Arg196Ser) single nucleotide variant Pathogenic rs281875333 GRCh37 Chromosome 7, 5568128: 5568128
36 ACTB NM_001101.4(ACTB): c.586C> A (p.Arg196Ser) single nucleotide variant Pathogenic rs281875333 GRCh38 Chromosome 7, 5528497: 5528497
37 ACTB NM_001101.4(ACTB): c.611C> G (p.Ala204Gly) single nucleotide variant Pathogenic rs587779776 GRCh37 Chromosome 7, 5568103: 5568103
38 ACTB NM_001101.4(ACTB): c.611C> G (p.Ala204Gly) single nucleotide variant Pathogenic rs587779776 GRCh38 Chromosome 7, 5528472: 5528472
39 ACTB NM_001101.4(ACTB): c.625G> A (p.Val209Met) single nucleotide variant Pathogenic/Likely pathogenic rs587779777 GRCh37 Chromosome 7, 5568089: 5568089
40 ACTB NM_001101.4(ACTB): c.625G> A (p.Val209Met) single nucleotide variant Pathogenic/Likely pathogenic rs587779777 GRCh38 Chromosome 7, 5528458: 5528458
41 ACTB NM_001101.4(ACTB): c.64G> A (p.Ala22Thr) single nucleotide variant Likely pathogenic rs587780273 GRCh37 Chromosome 7, 5569225: 5569225
42 ACTB NM_001101.4(ACTB): c.64G> A (p.Ala22Thr) single nucleotide variant Likely pathogenic rs587780273 GRCh38 Chromosome 7, 5529594: 5529594
43 ACTB NM_001101.4(ACTB): c.1023C> T (p.Ile341=) single nucleotide variant Benign rs58704474 GRCh37 Chromosome 7, 5567484: 5567484
44 ACTB NM_001101.4(ACTB): c.1023C> T (p.Ile341=) single nucleotide variant Benign rs58704474 GRCh38 Chromosome 7, 5527853: 5527853
45 ACTB NM_001101.4(ACTB): c.942G> A (p.Gln314=) single nucleotide variant Benign rs11546939 GRCh37 Chromosome 7, 5567677: 5567677
46 ACTB NM_001101.4(ACTB): c.942G> A (p.Gln314=) single nucleotide variant Benign rs11546939 GRCh38 Chromosome 7, 5528046: 5528046
47 ACTB NM_001101.4(ACTB): c.802G> C (p.Gly268Arg) single nucleotide variant Pathogenic rs1554329269 GRCh38 Chromosome 7, 5528281: 5528281
48 ACTB NM_001101.4(ACTB): c.802G> C (p.Gly268Arg) single nucleotide variant Pathogenic rs1554329269 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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