BBRSAY
MCID: BRB006
MIFTS: 39

Barber-Say Syndrome (BBRSAY)

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

Aliases & Classifications for Barber-Say Syndrome

MalaCards integrated aliases for Barber-Say Syndrome:

Name: Barber-Say Syndrome 58 12 77 60 76 38 30 6 15 41
Hypertrichosis, Atrophic Skin, Ectropion, and Macrostomia 58 54 76
Barber Say Syndrome 54 45 74
Bbrsay 58 76
Bss 58 76
Hypertrichosis-Atrophic Skin-Ectropion-Macrostomia Syndrome 60
Hypertrichosis Atrophic Skin Ectropion Macrostomia 54

Characteristics:

Orphanet epidemiological data:

60
barber-say syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
barber-say syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Barber-Say Syndrome

NIH Rare Diseases : 54 Barber Say syndrome is a very rare condition characterized by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It has been described in less than 20 patients in the medical literature. Barber Say syndrome has a variable presentation, with reports of both mild and severe cases. Inheritance has been debated, with qualities suggestive of autosomal dominant and autosomal recessive. A recent study suggests that at least some cases of Barber Say syndrome are caused by dominant mutations in the TWIST2 gene. Treatment remains a challenge for both patients and doctors, and requires a multidisciplinary approach.

MalaCards based summary : Barber-Say Syndrome, also known as hypertrichosis, atrophic skin, ectropion, and macrostomia, is related to ablepharon-macrostomia syndrome and say syndrome, and has symptoms including dry skin An important gene associated with Barber-Say Syndrome is TWIST2 (Twist Family BHLH Transcription Factor 2), and among its related pathways/superpathways is Proteoglycans in cancer. Affiliated tissues include skin, breast and eye, and related phenotypes are hypertelorism and failure to thrive

Disease Ontology : 12 A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has material basis in heterozygous mutation in the TWIST2 gene on chromosome 2q37.

OMIM : 58 Barber-Say syndrome is a rare congenital condition characterized by severe hypertrichosis, especially of the back, skin abnormalities such as hyperlaxity and redundancy, and facial dysmorphism, including macrostomia, eyelid deformities, ocular telecanthus, abnormal and low-set ears, bulbous nasal tip with hypoplastic alae nasi, and low frontal hairline (summary by Roche et al., 2010). (209885)

CDC : 3 BSE (bovine spongiform encephalopathy) is a progressive neurological disorder of cattle that results from infection by an unusual transmissible agent called a prion. The nature of the transmissible agent is not well understood. Currently, the most accepted theory is that the agent is a modified form of a normal protein known as prion protein. For reasons that are not yet understood, the normal prion protein changes into a pathogenic (harmful) form that then damages the central nervous system of cattle.

UniProtKB/Swiss-Prot : 76 Barber-Say syndrome: A rare ectodermal dysplasia characterized by ectropion, macrostomia, ear abnormalities, broad nasal bridge, bulbous nose, redundant skin, hypertrichosis, dental abnormalities, and variable other features.

Wikipedia : 77 Barber-Say syndrome (BSS) is a very rare congenital disorder associated with excessive hair growth... more...

Related Diseases for Barber-Say Syndrome

Diseases related to Barber-Say Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 19, show less)
# Related Disease Score Top Affiliating Genes
1 ablepharon-macrostomia syndrome 32.1 CYP26C1 TWIST2
2 say syndrome 31.0 LOC100287387 TWIST2
3 bernard-soulier syndrome 12.1
4 camptocormism 11.5
5 brooke-spiegler syndrome 11.4
6 brown-sequard syndrome 11.3
7 macrostomia, isolated 10.5
8 bronchitis 10.4
9 ectropion 10.3
10 hypertrichosis 10.3
11 endophthalmitis 10.2
12 hypertelorism 10.2
13 glaucoma-related pigment dispersion syndrome 10.1
14 acute insulin response 10.1
15 common cold 10.1
16 partial trisomy distal 4q 9.9 TWIST1 TWIST2
17 focal facial dermal dysplasia 9.7 CYP26C1 TWIST2
18 saethre-chotzen syndrome 9.7 TWIST1 TWIST2
19 aplasia cutis congenita 9.6 CYP26C1 TWIST2

Graphical network of the top 20 diseases related to Barber-Say Syndrome:



Diseases related to Barber-Say Syndrome

Symptoms & Phenotypes for Barber-Say Syndrome

Human phenotypes related to Barber-Say Syndrome:

60 33 (showing 37, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
3 hearing impairment 60 33 occasional (7.5%) Very frequent (99-80%) HP:0000365
4 wide nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000431
5 anteverted nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0000463
6 delayed eruption of teeth 60 33 occasional (7.5%) Very frequent (99-80%) HP:0000684
7 generalized hirsutism 60 33 hallmark (90%) Very frequent (99-80%) HP:0002230
8 telecanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000506
9 wide mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000154
10 aplasia/hypoplasia of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0008065
11 bulbous nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0000414
12 redundant skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0001582
13 aplasia/hypoplasia of the eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0100840
14 ectropion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000656
15 sparse or absent eyelashes 60 33 hallmark (90%) Very frequent (99-80%) HP:0200102
16 hyperextensible skin 60 33 frequent (33%) Frequent (79-30%) HP:0000974
17 hypoplastic nipples 60 33 frequent (33%) Frequent (79-30%) HP:0002557
18 breast aplasia 60 33 frequent (33%) Frequent (79-30%) HP:0100783
19 abnormality of the pinna 60 33 occasional (7.5%) Occasional (29-5%) HP:0000377
20 atresia of the external auditory canal 60 33 occasional (7.5%) Occasional (29-5%) HP:0000413
21 shawl scrotum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000049
22 ablepharon 60 33 occasional (7.5%) Occasional (29-5%) HP:0011224
23 intellectual disability 33 occasional (7.5%) HP:0001249
24 micrognathia 33 occasional (7.5%) HP:0000347
25 high, narrow palate 33 occasional (7.5%) HP:0002705
26 low-set ears 33 HP:0000369
27 mandibular prognathia 33 HP:0000303
28 dry skin 33 HP:0000958
29 underdeveloped nasal alae 33 HP:0000430
30 abnormality of the face 60 Very frequent (99-80%)
31 thin vermilion border 33 HP:0000233
32 abnormality of female external genitalia 33 HP:0000055
33 abnormality of male external genitalia 33 HP:0000032
34 absent nipple 33 HP:0002561
35 dermal atrophy 33 HP:0004334
36 hypertrichosis 33 HP:0000998
37 sparse and thin eyebrow 33 HP:0000535

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
telecanthus
sparse eyebrows
eyelid ectropion

Skin Nails Hair Skin:
dry skin
redundant skin

Chest Breasts:
hypoplastic nipples
absent nipples

Neurologic Central Nervous System:
mental retardation (in some patients)

Head And Neck Teeth:
delayed eruption (rare)

Genitourinary External Genitalia Female:
anomalous

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

Head And Neck Nose:
bulbous nose
hypoplastic alae nasi

Head And Neck Face:
mandibular prognathism
micrognathia (in some patients)

Head And Neck Mouth:
macrostomia
thin lips
high-arched palate (in some patients)

Genitourinary External Genitalia Male:
anomalous

Skin Nails Hair Hair:
hypertrichosis, generalized

Clinical features from OMIM:

209885

UMLS symptoms related to Barber-Say Syndrome:


dry skin

MGI Mouse Phenotypes related to Barber-Say Syndrome:

47 (showing 2, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.13 CYP26C1 TWIST1 TWIST2
2 limbs/digits/tail MP:0005371 8.8 CYP26C1 TWIST1 TWIST2

Drugs & Therapeutics for Barber-Say Syndrome

Search Clinical Trials , NIH Clinical Center for Barber-Say Syndrome

Cochrane evidence based reviews: barber say syndrome

Genetic Tests for Barber-Say Syndrome

Genetic tests related to Barber-Say Syndrome:

# Genetic test Affiliating Genes
1 Barber-Say Syndrome 30 TWIST2

Anatomical Context for Barber-Say Syndrome

MalaCards organs/tissues related to Barber-Say Syndrome:

42
Skin, Breast, Eye

Publications for Barber-Say Syndrome

Articles related to Barber-Say Syndrome:

(showing 20, show less)
# Title Authors Year
1
Multidisciplinary eyelid reconstruction in Barber-Say syndrome: A case report. ( 30455119 )
2019
2
Barber Say Syndrome (A New Case Report). ( 30984591 )
2019
3
Clinical Description, Molecular Analysis of TWIST2 Gene, and Surgical Treatment in a Patient With Barber-Say Syndrome. ( 29329175 )
2018
4
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View. ( 28690482 )
2017
5
Barber-say syndrome: a confirmed case of TWIST2 gene mutation. ( 28680619 )
2017
6
Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview. ( 27196381 )
2016
7
Transmission of Barber-Say syndrome from a mosaic father to his child in an Indian family. ( 27092433 )
2016
8
General anesthesia of a Japanese infant with Barber-Say syndrome: a case report. ( 29497666 )
2016
9
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. ( 26119818 )
2015
10
A case of Barber-Say syndrome in a male Japanese newborn. ( 25614816 )
2014
11
Barber-Say syndrome in a father and daughter. ( 20799330 )
2010
12
Oral and dental abnormalities in Barber-Say syndrome. ( 20830793 )
2010
13
Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder. ( 19760652 )
2009
14
What syndrome is this? Barber-Say syndrome. ( 16650233 )
2006
15
Oculoplastic approach to treating Barber-Say syndrome. ( 16714944 )
2006
16
Autosomal dominant inheritance of Barber-Say syndrome. ( 10440829 )
1999
17
Barber-Say Syndrome: report of a new case. ( 9674915 )
1998
18
Macrostomia, hypertelorism, atrophic skin, severe hypertrichosis without ectropion: milder form of Barber-Say Syndrome. ( 9415700 )
1997
19
Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): report of a new case. ( 8368246 )
1993
20
Macrostomia, ectropion, atrophic skin, hypertrichosis: another observation. ( 1867254 )
1991

Variations for Barber-Say Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Barber-Say Syndrome:

76 (showing 2, show less)
# Symbol AA change Variation ID SNP ID
1 TWIST2 p.Glu75Ala VAR_074674 rs796065048
2 TWIST2 p.Glu75Gln VAR_074676 rs796065049

ClinVar genetic disease variations for Barber-Say Syndrome:

6 (showing 6, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 TWIST2 NM_057179.2(TWIST2): c.224A> C (p.Glu75Ala) single nucleotide variant Pathogenic rs1553565143 GRCh38 Chromosome 2, 238848439: 238848439
2 TWIST2 NM_057179.2(TWIST2): c.224A> C (p.Glu75Ala) single nucleotide variant Pathogenic rs1553565143 GRCh37 Chromosome 2, 239757080: 239757080
3 TWIST2 NM_057179.2(TWIST2): c.223G> C (p.Glu75Gln) single nucleotide variant Pathogenic rs1553565140 GRCh38 Chromosome 2, 238848438: 238848438
4 TWIST2 NM_057179.2(TWIST2): c.223G> C (p.Glu75Gln) single nucleotide variant Pathogenic rs1553565140 GRCh37 Chromosome 2, 239757079: 239757079
5 TWIST2 NM_057179.2(TWIST2): c.229_234dupCAGCGC (p.Arg78_Thr79insGlnArg) duplication Pathogenic rs869320750 GRCh38 Chromosome 2, 238848444: 238848449
6 TWIST2 NM_057179.2(TWIST2): c.229_234dupCAGCGC (p.Arg78_Thr79insGlnArg) duplication Pathogenic rs869320750 GRCh37 Chromosome 2, 239757085: 239757090

Expression for Barber-Say Syndrome

Search GEO for disease gene expression data for Barber-Say Syndrome.

Pathways for Barber-Say Syndrome

Pathways related to Barber-Say Syndrome according to GeneCards Suite gene sharing:

(showing 1, show less)
# Super pathways Score Top Affiliating Genes
1 10.93 TWIST1 TWIST2

GO Terms for Barber-Say Syndrome

Biological processes related to Barber-Say Syndrome according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of osteoblast differentiation GO:0045668 8.62 TWIST1 TWIST2

Molecular functions related to Barber-Say Syndrome according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 protein dimerization activity GO:0046983 8.62 TWIST1 TWIST2

Sources for Barber-Say Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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