BRPS
MCID: BNB002
MIFTS: 39

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 74 29 6 40 72
Severe Feeding Difficulties-Failure to Thrive-Microcephaly Due to Asxl3 Deficiency Syndrome 53 59
Brps 57 74
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


HPO:

32
bainbridge-ropers syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615485
MeSH 44 D000015
ICD10 via Orphanet 34 Q87.0
Orphanet 59 ORPHA352577
UMLS 72 C3809650

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 hypotonia and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Bainbridge-Ropers Syndrome is ASXL3 (ASXL Transcriptional Regulator 3). The drugs Metformin and Hypoglycemic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and smooth muscle, and related phenotypes are seizures and scoliosis

UniProtKB/Swiss-Prot : 74 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 : 75 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 33)
# Related Disease Score Top Affiliating Genes
1 hypotonia 10.8
2 alacrima, achalasia, and mental retardation syndrome 10.8
3 bohring-opitz syndrome 10.7
4 opitz gbbb syndrome, type i 10.7
5 epilepsy 10.6
6 microcephaly 10.6
7 hypertelorism 10.4
8 autism 10.4
9 c syndrome 10.4
10 alkuraya-kucinskas syndrome 10.4
11 syndromic intellectual disability 10.4
12 pontocerebellar hypoplasia 10.4
13 visual epilepsy 10.4
14 epilepsy with generalized tonic-clonic seizures 10.4
15 exophthalmos 10.4
16 athetosis 10.4
17 pontocerebellar hypoplasia type 1 10.4
18 seizure disorder 10.4
19 congenital amyoplasia 10.4
20 hepatitis a 10.3
21 poliomyelitis 10.3
22 polykaryocytosis inducer 10.1
23 variola major 10.1
24 sleep apnea 10.1
25 pertussis 10.1
26 rabies 10.1
27 tetanus 10.1
28 diphtheria 10.1
29 vaccinia 10.1
30 peritonitis 10.1
31 chickenpox 10.1
32 smallpox 10.1
33 acute liver failure 10.1

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:

32 (show all 29)
# Description HPO Frequency HPO Source Accession
1 seizures 32 very rare (1%) HP:0001250
2 scoliosis 32 very rare (1%) HP:0002650
3 pes planus 32 very rare (1%) HP:0001763
4 arachnodactyly 32 very rare (1%) HP:0001166
5 disproportionate tall stature 32 very rare (1%) HP:0001519
6 hypertelorism 32 HP:0000316
7 high palate 32 HP:0000218
8 intellectual disability 32 HP:0001249
9 failure to thrive 32 HP:0001508
10 short nose 32 HP:0003196
11 microcephaly 32 HP:0000252
12 prominent forehead 32 HP:0011220
13 broad nasal tip 32 HP:0000455
14 generalized hypotonia 32 HP:0001290
15 highly arched eyebrow 32 HP:0002553
16 feeding difficulties 32 HP:0011968
17 strabismus 32 HP:0000486
18 severe global developmental delay 32 HP:0011344
19 everted lower lip vermilion 32 HP:0000232
20 absent speech 32 HP:0001344
21 inability to walk 32 HP:0002540
22 prominent nasal bridge 32 HP:0000426
23 wide mouth 32 HP:0000154
24 dental crowding 32 HP:0000678
25 downslanted palpebral fissures 32 HP:0000494
26 upslanted palpebral fissure 32 HP:0000582
27 hypoplasia of the corpus callosum 32 HP:0002079
28 severe postnatal growth retardation 32 HP:0008850
29 delayed ability to walk 32 HP:0031936

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
broad nasal tip
prominent nasal bridge
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

Drugs for Bainbridge-Ropers Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 4091 14219
2 Hypoglycemic Agents Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Metformin and Lorcaserin for Weight Loss in Schizophrenia Recruiting NCT02796144 Phase 4 Lorcaserin;Metformin;Placebo
2 Bohring-Opitz Syndrome and ASXL-Related Phenotypes 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
Skin, Brain, Smooth Muscle, Endothelial, Bone, Breast, Skeletal Muscle

Publications for Bainbridge-Ropers Syndrome

Articles related to Bainbridge-Ropers Syndrome:

(show top 50) (show all 99)
# Title Authors PMID Year
1
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. 38 8 71
28100473 2017
2
De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome. 38 8 71
26647312 2016
3
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. 8 71
23383720 2013
4
Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay. 38
31180560 2019
5
Activation of ferrate by carbon nanotube for enhanced degradation of bromophenols: Kinetics, products, and involvement of Fe(V)/Fe(IV). 38
30897545 2019
6
Mismatch negativity and cognitive performance in the course of schizophrenia. 38
30684515 2019
7
Reactive oxygen species mediates a metabolic memory of high glucose stress signaling in bovine retinal pericytes. 38
31341794 2019
8
Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. 140 (2018) 166-170]. 38
30104120 2018
9
Global developmental delay and postnatal microcephaly: Bainbridge-Ropers syndrome with a new mutation in ASXL3. 38
28431838 2018
10
Occurence of legacy and novel brominated flame retardants in food and feed in France for the period 2014 to 2016. 38
29843025 2018
11
Complex Control of a Genomic Island Governing Biofilm and Rugose Colony Development in Vibrio vulnificus. 38
29760209 2018
12
Identification and Functional Analysis of Novel Bradykinin-Related Peptides (BRPs) from Skin Secretions of Five Asian Frogs. 38
30008150 2018
13
A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome. 38
29305346 2018
14
Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1. 38
29316359 2018
15
Amphiphilic Bioactive Filler for Acrylic Bone Cement to Enhance Its Cell Adhesion. 38
31352953 2018
16
Electrical stimulation of microengineered skeletal muscle tissue: Effect of stimulus parameters on myotube contractility and maturation. 38
28622706 2018
17
Relation of the Brugada Phenocopy to Hyperkalemia (from the International Registry on Brugada Phenocopy). 38
29397883 2018
18
Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3. 38
29445472 2018
19
[Bainbridge-Ropers syndrome with ASXL3 gene variation in a child and literature review]. 38
29429203 2018
20
Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome. 38
29367179 2018
21
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. 38
29628764 2018
22
Collaborative study for the establishment of human immunoglobulin BRP replacement batches. 38
29944115 2018
23
A vapour phase assay for evaluating the antimicrobial activities of essential oils against bovine respiratory bacterial pathogens. 38
28915339 2017
24
Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome. 38
28955728 2017
25
Oxidation Kinetics of Bromophenols by Nonradical Activation of Peroxydisulfate in the Presence of Carbon Nanotube and Formation of Brominated Polymeric Products. 38
28806069 2017
26
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. 38
27901041 2017
27
Novel compound heterozygous ASXL3 mutation causing Bainbridge-ropers like syndrome and primary IGF1 deficiency. 38
28785287 2017
28
The impact of choosing words carefully: an online investigation into imaging reporting strategies and best practice care for low back pain. 38
29230375 2017
29
Ex Vivo Smooth Muscle Pharmacological Effects of a Novel Bradykinin-Related Peptide, and Its Analogue, from Chinese Large Odorous Frog, Odorrana livida Skin Secretions. 38
27690099 2016
30
Hydroxylated polybrominated diphenyl ethers (OH-PBDEs) in paired maternal and neonatal samples from South China: Placental transfer and potential risks. 38
27035923 2016
31
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 38
27075689 2016
32
Brugada Phenocopy Induced by Electrolyte Disorder: A Transient Electrocardiographic Sign. 38
26910573 2016
33
Expert cardiologists cannot distinguish between Brugada phenocopy and Brugada syndrome electrocardiogram patterns. 38
26498159 2016
34
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). 38
27085014 2016
35
Isolation and Transfection of Primary Culture Bovine Retinal Pericytes. 38
27172949 2016
36
Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders. 38
26506440 2015
37
Organobromine compound profiling in human adipose: Assessment of sources of bromophenol. 38
25935608 2015
38
A review on bradykinin-related peptides isolated from amphibian skin secretion. 38
25793726 2015
39
Establishment of hepatitis A vaccine (inactivated, non-adsorbed) BRP batches 2 and 3. 38
26830162 2015
40
Proteins of Bartonella bacilliformis: Candidates for Vaccine Development. 38
26413097 2015
41
Oxidation of bromophenols and formation of brominated polymeric products of concern during water treatment with potassium permanganate. 38
25136744 2014
42
A novel bradykinin-related dodecapeptide (RVALPPGFTPLR) from the skin secretion of the Fujian large-headed frog (Limnonectes fujianensis) exhibiting unusual structural and functional features. 38
25268979 2014
43
Bradykinin-related peptides (BRPs) from skin secretions of three genera of phyllomedusine leaf frogs and their comparative pharmacological effects on mammalian smooth muscles. 38
24394432 2014
44
Ranakinestatin-PPF from the skin secretion of the Fukien gold-striped pond frog, Pelophylax plancyi fukienensis: a prototype of a novel class of bradykinin B2 receptor antagonist peptide from ranid frogs. 38
25161395 2014
45
Combination treatment with risperidone long-acting injection and psychoeducational approaches for preventing relapse in schizophrenia. 38
24194642 2013
46
Composition and antimicrobial activity of the skin peptidome of Russian brown frog Rana temporaria. 38
23121565 2012
47
Hydroxylated and methoxylated polybrominated diphenyl ethers in blood plasma of humans in Hong Kong. 38
22771521 2012
48
Signal enhancement in polysaccharide based sensors for infections by incorporation of chemically modified laccase. 38
22445491 2012
49
Calibration of the human immunoglobulin BRPs for ACA and molecular size (batch 1) and for Fc function and molecular size (batches 1 & 2). 38
23327889 2012
50
Association of the emerging carbapenemase NDM-1 with a bleomycin resistance protein in Enterobacteriaceae and Acinetobacter baumannii. 38
22290943 2012

Variations for Bainbridge-Ropers Syndrome

ClinVar genetic disease variations for Bainbridge-Ropers Syndrome:

6 (show all 24)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ASXL3 NM_030632.3(ASXL3): c.1961dup (p.Ser654_Ser655insTer) duplication Pathogenic rs1057519498 18:31319329-31319329 18:33739365-33739365
2 ASXL3 NM_030632.3(ASXL3): c.1471C> T (p.Gln491Ter) single nucleotide variant Pathogenic rs1060499602 18:31318839-31318839 18:33738875-33738875
3 ASXL3 NM_030632.3(ASXL3): c.3364C> T (p.Gln1122Ter) single nucleotide variant Pathogenic rs1064793765 18:31323176-31323176 18:33743212-33743212
4 ASXL3 NM_030632.3(ASXL3): c.3464C> A (p.Ser1155Ter) single nucleotide variant Pathogenic rs377619533 18:31323276-31323276 18:33743312-33743312
5 ASXL3 NM_030632.3(ASXL3): c.3106C> T (p.Arg1036Ter) single nucleotide variant Pathogenic rs1131691668 18:31322918-31322918 18:33742954-33742954
6 ASXL3 NM_030632.3(ASXL3): c.1978_1981del (p.Asp660fs) deletion Pathogenic rs1555742500 18:31319346-31319349 18:33739382-33739385
7 ASXL3 NM_030632.3(ASXL3): c.1448dup (p.Thr484fs) duplication Pathogenic rs1555742167 18:31318816-31318816 18:33738852-33738852
8 ASXL3 NM_030632.3(ASXL3): c.4144C> T (p.Gln1382Ter) single nucleotide variant Pathogenic rs1555744086 18:31323956-31323956 18:33743992-33743992
9 ASXL3 NM_030632.3(ASXL3): c.3039+1G> A single nucleotide variant Pathogenic rs1555743003 18:31320408-31320408 18:33740444-33740444
10 ASXL3 NM_030632.3(ASXL3): c.1500del (p.Glu500fs) deletion Pathogenic 18:31318868-31318868 18:33738904-33738904
11 ASXL3 NM_030632.3(ASXL3): c.1210C> T (p.Gln404Ter) single nucleotide variant Pathogenic rs587777061 18:31318578-31318578 18:33738614-33738614
12 ASXL3 NM_030632.3(ASXL3): c.1396C> T (p.Gln466Ter) single nucleotide variant Pathogenic rs587777062 18:31318764-31318764 18:33738800-33738800
13 ASXL3 NM_030632.3(ASXL3): c.1422dup (p.Glu475Ter) duplication Pathogenic rs1555742148 18:31318790-31318790 18:33738826-33738826
14 ASXL3 NM_030632.3(ASXL3): c.1188_1191ACAG[1] (p.Thr398fs) short repeat Pathogenic rs797045317 18:31318560-31318563 18:33738596-33738599
15 ASXL3 NM_030632.3(ASXL3): c.1682C> A (p.Ser561Ter) single nucleotide variant Pathogenic rs869312696 18:31319050-31319050 18:33739086-33739086
16 ASXL3 NM_030632.3(ASXL3): c.1351C> T (p.Gln451Ter) single nucleotide variant Pathogenic 18:31318719-31318719 18:33738755-33738755
17 ASXL3 NM_030632.3(ASXL3): c.1847_1848AG[1] (p.Ser617fs) short repeat Pathogenic 18:31319213-31319215 18:33739251-33739252
18 ASXL3 NM_030632.1(ASXL3): c.1082+1784_3039+952del5197 deletion Likely pathogenic 18:31316158-31321355 :0-0
19 ASXL3 NM_030632.3(ASXL3): c.4072_4085del (p.Val1358fs) deletion Likely pathogenic rs1555744039 18:31323884-31323897 18:33743920-33743933
20 ASXL3 NM_030632.3(ASXL3): c.4330C> T (p.Arg1444Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs1555744282 18:31324142-31324142 18:33744178-33744178
21 ASXL3 NM_030632.3(ASXL3): c.3349C> T (p.Arg1117Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs868044680 18:31323161-31323161 18:33743197-33743197
22 ASXL3 NM_030632.3(ASXL3): c.4066A> G (p.Ser1356Gly) single nucleotide variant Uncertain significance 18:31323878-31323878 18:33743914-33743914
23 ASXL3 NM_030632.3(ASXL3): c.6640T> C (p.Ser2214Pro) single nucleotide variant Uncertain significance rs878853168 18:31326452-31326452 18:33746488-33746488
24 ASXL3 NM_030632.3(ASXL3): c.2074G> C (p.Ala692Pro) single nucleotide variant not provided rs1212866279 18:31319442-31319442 18:33739478-33739478

Expression for Bainbridge-Ropers Syndrome

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

Pathways for Bainbridge-Ropers Syndrome

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 PR-DUB complex GO:0035517 8.62 BAP1 ASXL3

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 BAP1 ASXL3

Sources for Bainbridge-Ropers Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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