BRPS
MCID: BNB002
MIFTS: 35

Bainbridge-Ropers Syndrome (BRPS)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Bainbridge-Ropers Syndrome

MalaCards integrated aliases for Bainbridge-Ropers Syndrome:

Name: Bainbridge-Ropers Syndrome 57 53 75 29 6 40 73
Severe Feeding Difficulties-Failure to Thrive-Microcephaly Due to Asxl3 Deficiency Syndrome 53 59
Brps 57 75
Asxl3/bainbridge-Ropers Syndrome 53
Bainbridge-Roppers Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
severe feeding difficulties-failure to thrive-microcephaly due to asxl3 deficiency syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset in early infancy


Classifications:



Summaries for Bainbridge-Ropers Syndrome

OMIM : 57 Bainbridge-Ropers syndrome (BRPS) is a developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features (summary by Srivastava et al., 2016). (615485)

MalaCards based summary : Bainbridge-Ropers Syndrome, also known as severe feeding difficulties-failure to thrive-microcephaly due to asxl3 deficiency syndrome, is related to epilepsy and pontocerebellar hypoplasia. An important gene associated with Bainbridge-Ropers Syndrome is ASXL3 (ASXL Transcriptional Regulator 3), and among its related pathways/superpathways is Deubiquitination. Affiliated tissues include brain, and related phenotypes are hypertelorism and high palate

UniProtKB/Swiss-Prot : 75 Bainbridge-Ropers syndrome: A syndrome characterized by psychomotor retardation, feeding problems, severe postnatal growth retardation in some patients, arched eyebrows, anteverted nares, and ulnar deviation of the hands.

Wikipedia : 76 Bainbridge-Ropers syndrome is a very rare genetic disorder characterized by abnormalities including... more...

Related Diseases for Bainbridge-Ropers Syndrome

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

# Related Disease Score Top Affiliating Genes
1 epilepsy 10.6
2 pontocerebellar hypoplasia 10.4
3 microcephaly 10.4
4 athetosis 10.4
5 pontocerebellar hypoplasia type 1 10.4
6 poliomyelitis 10.3
7 hepatitis 10.2
8 hepatitis a 10.2
9 pertussis 10.0
10 tetanus 10.0

Graphical network of the top 20 diseases related to Bainbridge-Ropers Syndrome:



Diseases related to Bainbridge-Ropers Syndrome

Symptoms & Phenotypes for Bainbridge-Ropers Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
strabismus
downslanting palpebral fissures
upslanting palpebral fissures
arched eyebrows

Head And Neck Nose:
short nose
anteverted nares
prominent nasal bridge
broad nasal tip
low columella
more
Head And Neck Face:
prominent forehead

Neurologic Central Nervous System:
inability to walk
delayed psychomotor development
seizures (rare)
delayed walking
thin corpus callosum
more
Muscle Soft Tissue:
hypotonia

Skeletal Spine:
scoliosis (in some patients)

Head And Neck Teeth:
crowded teeth

Growth Other:
failure to thrive
poor overall growth
marfanoid habitus (in some patients)

Head And Neck Head:
microcephaly
narrow head

Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Mouth:
wide mouth
high-arched palate
everted lower lip

Neurologic Behavioral Psychiatric Manifestations:
autistic features
hand-flapping

Skeletal Hands:
arachnodactyly (in some patients)

Skeletal Feet:
pes planus (in some patients)


Clinical features from OMIM:

615485

Human phenotypes related to Bainbridge-Ropers Syndrome:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 high palate 32 HP:0000218
3 intellectual disability 32 HP:0001249
4 seizures 32 very rare (1%) HP:0001250
5 failure to thrive 32 HP:0001508
6 short nose 32 HP:0003196
7 microcephaly 32 HP:0000252
8 feeding difficulties 32 HP:0011968
9 strabismus 32 HP:0000486
10 severe global developmental delay 32 HP:0011344
11 everted lower lip vermilion 32 HP:0000232
12 absent speech 32 HP:0001344
13 inability to walk 32 HP:0002540
14 prominent nasal bridge 32 HP:0000426
15 wide mouth 32 HP:0000154
16 disproportionate tall stature 32 very rare (1%) HP:0001519
17 downslanted palpebral fissures 32 HP:0000494
18 upslanted palpebral fissure 32 HP:0000582
19 broad nasal tip 32 HP:0000455
20 highly arched eyebrow 32 HP:0002553
21 hypoplasia of the corpus callosum 32 HP:0002079
22 severe postnatal growth retardation 32 HP:0008850
23 delayed ability to walk 32 HP:0031936

Drugs & Therapeutics for Bainbridge-Ropers Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Bohring-Opitz Syndrome and ASXL Registry Recruiting NCT03303716

Search NIH Clinical Center for Bainbridge-Ropers Syndrome

Genetic Tests for Bainbridge-Ropers Syndrome

Genetic tests related to Bainbridge-Ropers Syndrome:

# Genetic test Affiliating Genes
1 Bainbridge-Ropers Syndrome 29 ASXL3

Anatomical Context for Bainbridge-Ropers Syndrome

MalaCards organs/tissues related to Bainbridge-Ropers Syndrome:

41
Brain

Publications for Bainbridge-Ropers Syndrome

Articles related to Bainbridge-Ropers Syndrome:

(show all 12)
# Title Authors Year
1
Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome. ( 29367179 )
2018
2
A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome. ( 29305346 )
2018
3
Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1. ( 29316359 )
2018
4
Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in<i>ASXL3</i>. ( 29445472 )
2018
5
Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in <i>ASXL3</i> shows overlap with the associated Bainbridge-Ropers syndrome. ( 29628764 )
2018
6
Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. 140 (2018) 166-170]. ( 30104120 )
2018
7
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. ( 27901041 )
2017
8
Global developmental delay and postnatal microcephaly: Bainbridge-Ropers syndrome with a new mutation in ASXL3. ( 28431838 )
2017
9
Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. ( 28100473 )
2017
10
Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome. ( 28955728 )
2017
11
De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome. ( 26647312 )
2016
12
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. ( 27075689 )
2016

Variations for Bainbridge-Ropers Syndrome

ClinVar genetic disease variations for Bainbridge-Ropers Syndrome:

6 (show all 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 ASXL3 NM_030632.2(ASXL3): c.1210C> T (p.Gln404Ter) single nucleotide variant Pathogenic rs587777061 GRCh37 Chromosome 18, 31318578: 31318578
2 ASXL3 NM_030632.2(ASXL3): c.1210C> T (p.Gln404Ter) single nucleotide variant Pathogenic rs587777061 GRCh38 Chromosome 18, 33738614: 33738614
3 ASXL3 NM_030632.2(ASXL3): c.1396C> T (p.Gln466Ter) single nucleotide variant Pathogenic rs587777062 GRCh37 Chromosome 18, 31318764: 31318764
4 ASXL3 NM_030632.2(ASXL3): c.1396C> T (p.Gln466Ter) single nucleotide variant Pathogenic rs587777062 GRCh38 Chromosome 18, 33738800: 33738800
5 ASXL3 NM_030632.2(ASXL3): c.1422dup (p.Glu475Terfs) duplication Pathogenic GRCh37 Chromosome 18, 31318790: 31318790
6 ASXL3 NM_030632.2(ASXL3): c.1422dup (p.Glu475Terfs) duplication Pathogenic GRCh38 Chromosome 18, 33738826: 33738826
7 ASXL3 NM_030632.2(ASXL3): c.1192_1195delACAG (p.Thr398Profs) deletion Pathogenic rs797045317 GRCh38 Chromosome 18, 33738596: 33738599
8 ASXL3 NM_030632.2(ASXL3): c.1192_1195delACAG (p.Thr398Profs) deletion Pathogenic rs797045317 GRCh37 Chromosome 18, 31318560: 31318563
9 ASXL3 NM_030632.2(ASXL3): c.1682C> A (p.Ser561Ter) single nucleotide variant Pathogenic rs869312696 GRCh37 Chromosome 18, 31319050: 31319050
10 ASXL3 NM_030632.2(ASXL3): c.1682C> A (p.Ser561Ter) single nucleotide variant Pathogenic rs869312696 GRCh38 Chromosome 18, 33739086: 33739086
11 ASXL3 NM_030632.2(ASXL3): c.6640T> C (p.Ser2214Pro) single nucleotide variant Uncertain significance rs878853168 GRCh37 Chromosome 18, 31326452: 31326452
12 ASXL3 NM_030632.2(ASXL3): c.6640T> C (p.Ser2214Pro) single nucleotide variant Uncertain significance rs878853168 GRCh38 Chromosome 18, 33746488: 33746488
13 ASXL3 NM_030632.2(ASXL3): c.3349C> T (p.Arg1117Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs868044680 GRCh37 Chromosome 18, 31323161: 31323161
14 ASXL3 NM_030632.2(ASXL3): c.3349C> T (p.Arg1117Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs868044680 GRCh38 Chromosome 18, 33743197: 33743197
15 ASXL3 NM_030632.2(ASXL3): c.1484delC (p.Pro495Leufs) deletion Pathogenic rs886043487 GRCh37 Chromosome 18, 31318852: 31318852
16 ASXL3 NM_030632.2(ASXL3): c.1484delC (p.Pro495Leufs) deletion Pathogenic rs886043487 GRCh38 Chromosome 18, 33738888: 33738888
17 ASXL3 NM_030632.2(ASXL3): c.1961dupC (p.Ser655Terfs) duplication Pathogenic rs1057519498 GRCh37 Chromosome 18, 31319329: 31319329
18 ASXL3 NM_030632.2(ASXL3): c.1961dupC (p.Ser655Terfs) duplication Pathogenic rs1057519498 GRCh38 Chromosome 18, 33739365: 33739365
19 ASXL3 NM_030632.2(ASXL3): c.1471C> T (p.Gln491Ter) single nucleotide variant Pathogenic rs1060499602 GRCh38 Chromosome 18, 33738875: 33738875
20 ASXL3 NM_030632.2(ASXL3): c.1471C> T (p.Gln491Ter) single nucleotide variant Pathogenic rs1060499602 GRCh37 Chromosome 18, 31318839: 31318839
21 ASXL3 NM_030632.2(ASXL3): c.3364C> T (p.Gln1122Ter) single nucleotide variant Pathogenic rs1064793765 GRCh37 Chromosome 18, 31323176: 31323176
22 ASXL3 NM_030632.2(ASXL3): c.3364C> T (p.Gln1122Ter) single nucleotide variant Pathogenic rs1064793765 GRCh38 Chromosome 18, 33743212: 33743212
23 ASXL3 NM_030632.2(ASXL3): c.3464C> A (p.Ser1155Ter) single nucleotide variant Pathogenic rs377619533 GRCh37 Chromosome 18, 31323276: 31323276
24 ASXL3 NM_030632.2(ASXL3): c.3464C> A (p.Ser1155Ter) single nucleotide variant Pathogenic rs377619533 GRCh38 Chromosome 18, 33743312: 33743312
25 ASXL3 NM_030632.2(ASXL3): c.3106C> T (p.Arg1036Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1131691668 GRCh37 Chromosome 18, 31322918: 31322918
26 ASXL3 NM_030632.2(ASXL3): c.3106C> T (p.Arg1036Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1131691668 GRCh38 Chromosome 18, 33742954: 33742954
27 ASXL3 NM_030632.2(ASXL3): c.1978_1981delGACA (p.Asp660Asnfs) deletion Pathogenic GRCh37 Chromosome 18, 31319346: 31319349
28 ASXL3 NM_030632.2(ASXL3): c.1978_1981delGACA (p.Asp660Asnfs) deletion Pathogenic GRCh38 Chromosome 18, 33739382: 33739385
29 ASXL3 NM_030632.2(ASXL3): c.2074G> C (p.Ala692Pro) single nucleotide variant not provided GRCh38 Chromosome 18, 33739478: 33739478
30 ASXL3 NM_030632.2(ASXL3): c.2074G> C (p.Ala692Pro) single nucleotide variant not provided GRCh37 Chromosome 18, 31319442: 31319442
31 ASXL3 NM_030632.2(ASXL3): c.4399C> T (p.Arg1467Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 18, 31324211: 31324211
32 ASXL3 NM_030632.2(ASXL3): c.4399C> T (p.Arg1467Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 18, 33744247: 33744247
33 ASXL3 NM_030632.2(ASXL3): c.4330C> T (p.Arg1444Ter) single nucleotide variant Conflicting interpretations of pathogenicity GRCh38 Chromosome 18, 33744178: 33744178
34 ASXL3 NM_030632.2(ASXL3): c.4330C> T (p.Arg1444Ter) single nucleotide variant Conflicting interpretations of pathogenicity GRCh37 Chromosome 18, 31324142: 31324142
35 ASXL3 NM_030632.2(ASXL3): c.1448dup (p.Thr484Asnfs) duplication Pathogenic GRCh37 Chromosome 18, 31318816: 31318816
36 ASXL3 NM_030632.2(ASXL3): c.1448dup (p.Thr484Asnfs) duplication Pathogenic GRCh38 Chromosome 18, 33738852: 33738852
37 ASXL3 NM_030632.2(ASXL3): c.4144C> T (p.Gln1382Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 18, 31323956: 31323956
38 ASXL3 NM_030632.2(ASXL3): c.4144C> T (p.Gln1382Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 18, 33743992: 33743992
39 ASXL3 NM_030632.2(ASXL3): c.3039+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 18, 31320408: 31320408
40 ASXL3 NM_030632.2(ASXL3): c.3039+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 18, 33740444: 33740444
41 ASXL3 NM_030632.2(ASXL3): c.4072_4085del (p.Val1358Asnfs) deletion Likely pathogenic GRCh38 Chromosome 18, 33743920: 33743933
42 ASXL3 NM_030632.2(ASXL3): c.4072_4085del (p.Val1358Asnfs) deletion Likely pathogenic GRCh37 Chromosome 18, 31323884: 31323897
43 ASXL3 NM_030632.2(ASXL3): c.1500del (p.Glu500Aspfs) deletion Pathogenic GRCh37 Chromosome 18, 31318868: 31318868
44 ASXL3 NM_030632.2(ASXL3): c.1500del (p.Glu500Aspfs) deletion Pathogenic GRCh38 Chromosome 18, 33738904: 33738904

Expression for Bainbridge-Ropers Syndrome

Search GEO for disease gene expression data for Bainbridge-Ropers Syndrome.

Pathways for Bainbridge-Ropers Syndrome

Pathways related to Bainbridge-Ropers Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.34 BAP1 HIST1H2AK

GO Terms for Bainbridge-Ropers Syndrome

Cellular components related to Bainbridge-Ropers Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 8.96 ASXL3 HIST1H2AK
2 PR-DUB complex GO:0035517 8.62 ASXL3 BAP1

Biological processes related to Bainbridge-Ropers Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 8.62 BAP1 HIST1H2AK

Molecular functions related to Bainbridge-Ropers Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 8.62 ASXL3 BAP1

Sources for Bainbridge-Ropers 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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