BRPS
MCID: BNB002
MIFTS: 36

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 58 54 76 30 6 41 74
Severe Feeding Difficulties-Failure to Thrive-Microcephaly Due to Asxl3 Deficiency Syndrome 54 60
Brps 58 76
Asxl3/bainbridge-Ropers Syndrome 54
Bainbridge-Roppers Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset in early infancy


Classifications:



Summaries for Bainbridge-Ropers Syndrome

OMIM : 58 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 skin, brain and smooth muscle, and related phenotypes are seizures and disproportionate tall stature

UniProtKB/Swiss-Prot : 76 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 : 77 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:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 epilepsy 10.7
2 pontocerebellar hypoplasia 10.4
3 microcephaly 10.4
4 athetosis 10.4
5 pontocerebellar hypoplasia type 1 10.4
6 hepatitis 10.3
7 hepatitis a 10.3
8 poliomyelitis 10.3
9 nevus comedonicus 10.2
10 pertussis 10.0
11 tetanus 10.0
12 diphtheria 10.0
13 vaccinia 10.0
14 chickenpox 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

Human phenotypes related to Bainbridge-Ropers Syndrome:

33 (show all 23)
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 disproportionate tall stature 33 very rare (1%) HP:0001519
3 hypertelorism 33 HP:0000316
4 high palate 33 HP:0000218
5 intellectual disability 33 HP:0001249
6 failure to thrive 33 HP:0001508
7 short nose 33 HP:0003196
8 microcephaly 33 HP:0000252
9 feeding difficulties 33 HP:0011968
10 strabismus 33 HP:0000486
11 severe global developmental delay 33 HP:0011344
12 everted lower lip vermilion 33 HP:0000232
13 absent speech 33 HP:0001344
14 inability to walk 33 HP:0002540
15 prominent nasal bridge 33 HP:0000426
16 wide mouth 33 HP:0000154
17 downslanted palpebral fissures 33 HP:0000494
18 upslanted palpebral fissure 33 HP:0000582
19 broad nasal tip 33 HP:0000455
20 highly arched eyebrow 33 HP:0002553
21 hypoplasia of the corpus callosum 33 HP:0002079
22 severe postnatal growth retardation 33 HP:0008850
23 delayed ability to walk 33 HP:0031936

Symptoms via clinical synopsis from OMIM:

58
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

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 30 ASXL3

Anatomical Context for Bainbridge-Ropers Syndrome

MalaCards organs/tissues related to Bainbridge-Ropers Syndrome:

42
Skin, Brain, Smooth Muscle

Publications for Bainbridge-Ropers Syndrome

Articles related to Bainbridge-Ropers Syndrome:

(show all 22)
# Title Authors Year
1
Global developmental delay and postnatal microcephaly: Bainbridge-Ropers syndrome with a new mutation in ASXL3. ( 28431838 )
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
Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome. ( 29367179 )
2018
5
Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3. ( 29445472 )
2018
6
Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome. ( 29628764 )
2018
7
Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. 140 (2018) 166-170]. ( 30104120 )
2018
8
Identification and Functional Analysis of Novel Bradykinin-Related Peptides (BRPs) from Skin Secretions of Five Asian Frogs. ( 30008150 )
2018
9
Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome. ( 28955728 )
2017
10
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. ( 27901041 )
2017
11
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
12
De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome. ( 26647312 )
2016
13
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. ( 27075689 )
2016
14
Determination of urinary bromophenols (BrPs) as potential biomarkers for human exposure to polybrominated diphenyl ethers (PBDEs) using gas chromatography-tandem mass spectrometry (GC-MS/MS). ( 27085014 )
2016
15
Bradykinin-related peptides (BRPs) from skin secretions of three genera of phyllomedusine leaf frogs and their comparative pharmacological effects on mammalian smooth muscles. ( 24394432 )
2014
16
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. ( 23383720 )
2013
17
Calibration of the human immunoglobulin BRPs for ACA and molecular size (batch 1) and for Fc function and molecular size (batches 1 & 2). ( 23327889 )
2012
18
Mass spectrometric study of bradykinin-related peptides (BRPs) from the skin secretion of Russian ranid frogs. ( 21416530 )
2011
19
Amolopkinins W1 and W2--novel bradykinin-related peptides (BRPs) from the skin of the Chinese torrent frog, Amolops wuyiensis: antagonists of bradykinin-induced smooth muscle contraction of the rat ileum. ( 19428766 )
2009
20
3PFDB--a database of best representative PSSM profiles (BRPs) of protein families generated using a novel data mining approach. ( 19961575 )
2009
21
Skin bradykinin-related peptides (BRPs) and their biosynthetic precursors (kininogens): comparisons between various taxa of Chinese and North American ranid frogs. ( 18164514 )
2008
22
The complex array of bradykinin-related peptides (BRPs) in the peptidome of pickerel frog (Rana palustris) skin secretion is the product of transcriptional economy. ( 17459523 )
2007

Variations for Bainbridge-Ropers Syndrome

ClinVar genetic disease variations for Bainbridge-Ropers Syndrome:

6 (show all 42)
# 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 rs1555742148 GRCh37 Chromosome 18, 31318790: 31318790
6 ASXL3 NM_030632.2(ASXL3): c.1422dup (p.Glu475Terfs) duplication Pathogenic rs1555742148 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.1961dupC (p.Ser655Terfs) duplication Pathogenic rs1057519498 GRCh37 Chromosome 18, 31319329: 31319329
16 ASXL3 NM_030632.2(ASXL3): c.1961dupC (p.Ser655Terfs) duplication Pathogenic rs1057519498 GRCh38 Chromosome 18, 33739365: 33739365
17 ASXL3 NM_030632.2(ASXL3): c.1471C> T (p.Gln491Ter) single nucleotide variant Pathogenic rs1060499602 GRCh38 Chromosome 18, 33738875: 33738875
18 ASXL3 NM_030632.2(ASXL3): c.1471C> T (p.Gln491Ter) single nucleotide variant Pathogenic rs1060499602 GRCh37 Chromosome 18, 31318839: 31318839
19 ASXL3 NM_030632.1(ASXL3): c.3364C> T (p.Gln1122Ter) single nucleotide variant Pathogenic rs1064793765 GRCh37 Chromosome 18, 31323176: 31323176
20 ASXL3 NM_030632.1(ASXL3): c.3364C> T (p.Gln1122Ter) single nucleotide variant Pathogenic rs1064793765 GRCh38 Chromosome 18, 33743212: 33743212
21 ASXL3 NM_030632.1(ASXL3): c.3464C> A (p.Ser1155Ter) single nucleotide variant Pathogenic rs377619533 GRCh37 Chromosome 18, 31323276: 31323276
22 ASXL3 NM_030632.1(ASXL3): c.3464C> A (p.Ser1155Ter) single nucleotide variant Pathogenic rs377619533 GRCh38 Chromosome 18, 33743312: 33743312
23 ASXL3 NM_030632.1(ASXL3): c.3106C> T (p.Arg1036Ter) single nucleotide variant Pathogenic rs1131691668 GRCh37 Chromosome 18, 31322918: 31322918
24 ASXL3 NM_030632.1(ASXL3): c.3106C> T (p.Arg1036Ter) single nucleotide variant Pathogenic rs1131691668 GRCh38 Chromosome 18, 33742954: 33742954
25 ASXL3 NM_030632.2(ASXL3): c.1978_1981delGACA (p.Asp660Asnfs) deletion Pathogenic rs1555742500 GRCh37 Chromosome 18, 31319346: 31319349
26 ASXL3 NM_030632.2(ASXL3): c.1978_1981delGACA (p.Asp660Asnfs) deletion Pathogenic rs1555742500 GRCh38 Chromosome 18, 33739382: 33739385
27 ASXL3 NM_030632.2(ASXL3): c.2074G> C (p.Ala692Pro) single nucleotide variant not provided rs1212866279 GRCh38 Chromosome 18, 33739478: 33739478
28 ASXL3 NM_030632.2(ASXL3): c.2074G> C (p.Ala692Pro) single nucleotide variant not provided rs1212866279 GRCh37 Chromosome 18, 31319442: 31319442
29 ASXL3 NM_030632.2(ASXL3): c.4330C> T (p.Arg1444Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs1555744282 GRCh38 Chromosome 18, 33744178: 33744178
30 ASXL3 NM_030632.2(ASXL3): c.4330C> T (p.Arg1444Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs1555744282 GRCh37 Chromosome 18, 31324142: 31324142
31 ASXL3 NM_030632.2(ASXL3): c.1448dup (p.Thr484Asnfs) duplication Pathogenic rs1555742167 GRCh37 Chromosome 18, 31318816: 31318816
32 ASXL3 NM_030632.2(ASXL3): c.1448dup (p.Thr484Asnfs) duplication Pathogenic rs1555742167 GRCh38 Chromosome 18, 33738852: 33738852
33 ASXL3 NM_030632.2(ASXL3): c.4144C> T (p.Gln1382Ter) single nucleotide variant Pathogenic rs1555744086 GRCh37 Chromosome 18, 31323956: 31323956
34 ASXL3 NM_030632.2(ASXL3): c.4144C> T (p.Gln1382Ter) single nucleotide variant Pathogenic rs1555744086 GRCh38 Chromosome 18, 33743992: 33743992
35 ASXL3 NM_030632.2(ASXL3): c.3039+1G> A single nucleotide variant Pathogenic rs1555743003 GRCh37 Chromosome 18, 31320408: 31320408
36 ASXL3 NM_030632.2(ASXL3): c.3039+1G> A single nucleotide variant Pathogenic rs1555743003 GRCh38 Chromosome 18, 33740444: 33740444
37 ASXL3 NM_030632.2(ASXL3): c.4072_4085del (p.Val1358Asnfs) deletion Likely pathogenic rs1555744039 GRCh38 Chromosome 18, 33743920: 33743933
38 ASXL3 NM_030632.2(ASXL3): c.4072_4085del (p.Val1358Asnfs) deletion Likely pathogenic rs1555744039 GRCh37 Chromosome 18, 31323884: 31323897
39 ASXL3 NM_030632.2(ASXL3): c.1500del (p.Glu500Aspfs) deletion Pathogenic GRCh37 Chromosome 18, 31318868: 31318868
40 ASXL3 NM_030632.2(ASXL3): c.1500del (p.Glu500Aspfs) deletion Pathogenic GRCh38 Chromosome 18, 33738904: 33738904
41 ASXL3 NM_030632.3(ASXL3): c.1351C> T (p.Gln451Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 18, 31318719: 31318719
42 ASXL3 NM_030632.3(ASXL3): c.1351C> T (p.Gln451Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 18, 33738755: 33738755

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 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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