BRPS
MCID: BNB002
MIFTS: 41

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 56 52 58 73 29 6 39 71
Severe Feeding Difficulties-Failure to Thrive-Microcephaly Due to Asxl3 Deficiency Syndrome 52 58
Brps 56 73
Asxl3/bainbridge-Ropers Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset in early infancy


HPO:

31
bainbridge-ropers syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Bainbridge-Ropers Syndrome

OMIM : 56 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), and among its related pathways/superpathways is Deubiquitination. The drugs Metformin and Hypoglycemic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and brain, and related phenotypes are global developmental delay and feeding difficulties in infancy

UniProtKB/Swiss-Prot : 73 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 : 74 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 32)
# 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 microcephaly 10.6
6 epilepsy 10.6
7 hypertelorism 10.4
8 alkuraya-kucinskas syndrome 10.4
9 syndromic intellectual disability 10.4
10 pontocerebellar hypoplasia 10.4
11 visual epilepsy 10.4
12 epilepsy with generalized tonic-clonic seizures 10.4
13 exophthalmos 10.4
14 47,xyy 10.4
15 athetosis 10.4
16 pontocerebellar hypoplasia type 1 10.4
17 seizure disorder 10.4
18 congenital amyoplasia 10.4
19 hepatitis a 10.3
20 poliomyelitis 10.3
21 polykaryocytosis inducer 10.1
22 variola major 10.1
23 sleep apnea 10.1
24 pertussis 10.1
25 rabies 10.1
26 tetanus 10.1
27 diphtheria 10.1
28 vaccinia 10.1
29 peritonitis 10.1
30 chickenpox 10.1
31 smallpox 10.1
32 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:

58 31 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
3 infantile muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008947
4 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
5 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
6 high, narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0002705
7 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
8 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
9 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
10 intellectual disability, profound 58 31 frequent (33%) Frequent (79-30%) HP:0002187
11 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
12 seizures 58 31 very rare (1%) Occasional (29-5%) HP:0001250
13 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
14 scoliosis 58 31 very rare (1%) Occasional (29-5%) HP:0002650
15 pes planus 58 31 very rare (1%) Occasional (29-5%) HP:0001763
16 underdeveloped nasal alae 58 31 occasional (7.5%) Occasional (29-5%) HP:0000430
17 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
18 intellectual disability, moderate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002342
19 hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001276
20 prominent forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0011220
21 open mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000194
22 dolichocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000268
23 highly arched eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0002553
24 everted lower lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000232
25 inability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0002540
26 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
27 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
28 low hanging columella 58 31 occasional (7.5%) Occasional (29-5%) HP:0009765
29 synophrys 58 31 occasional (7.5%) Occasional (29-5%) HP:0000664
30 abnormality of the cerebral white matter 58 31 occasional (7.5%) Occasional (29-5%) HP:0002500
31 cerebellar vermis hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001320
32 arachnodactyly 58 31 very rare (1%) Occasional (29-5%) HP:0001166
33 disproportionate tall stature 58 31 very rare (1%) Occasional (29-5%) HP:0001519
34 dental crowding 58 31 occasional (7.5%) Occasional (29-5%) HP:0000678
35 bulbous nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000414
36 long nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003189
37 decreased facial expression 58 31 occasional (7.5%) Occasional (29-5%) HP:0004673
38 recurrent hand flapping 58 31 occasional (7.5%) Occasional (29-5%) HP:0100023
39 intellectual disability 58 31 Very frequent (99-80%) HP:0001249
40 failure to thrive 31 HP:0001508
41 neurological speech impairment 58 Very frequent (99-80%)
42 high palate 31 HP:0000218
43 short nose 31 HP:0003196
44 feeding difficulties 31 HP:0011968
45 broad nasal tip 31 HP:0000455
46 generalized hypotonia 31 HP:0001290
47 severe global developmental delay 31 HP:0011344
48 abnormality of the skeletal system 58 Frequent (79-30%)
49 wide mouth 31 HP:0000154
50 hypoplasia of the corpus callosum 31 HP:0002079

Symptoms via clinical synopsis from OMIM:

56
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 Head:
microcephaly
narrow head

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)

Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Face:
prominent forehead

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 14219 4091
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:

40
Skin, Liver, Brain, Smooth Muscle, Endothelial, Bone, Skeletal Muscle

Publications for Bainbridge-Ropers Syndrome

Articles related to Bainbridge-Ropers Syndrome:

(show top 50) (show all 102)
# 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. 61 56 6
28100473 2017
2
De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome. 61 56 6
26647312 2016
3
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. 56 6
23383720 2013
4
Brassica rapa Polysaccharides Ameliorate CCl4 -Induced Acute Liver Injury in Mice through Inhibiting Inflammatory Apoptotic Response and Oxidative Stress. 61
31730730 2020
5
Mismatch negativity and cognitive performance in the course of schizophrenia. 61
30684515 2019
6
Novel Nonsense Mutation in ASXL3 causing Bainbridge-Ropers Syndrome. 61
31638014 2019
7
Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay. 61
31180560 2019
8
Activation of ferrate by carbon nanotube for enhanced degradation of bromophenols: Kinetics, products, and involvement of Fe(V)/Fe(IV). 61
30897545 2019
9
A Regulatory Network Controls cabABC Expression Leading to Biofilm and Rugose Colony Development in Vibrio vulnificus. 61
32010109 2019
10
Reactive oxygen species mediates a metabolic memory of high glucose stress signaling in bovine retinal pericytes. 61
31341794 2019
11
Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. 140 (2018) 166-170]. 61
30104120 2018
12
Global developmental delay and postnatal microcephaly: Bainbridge-Ropers syndrome with a new mutation in ASXL3. 61
28431838 2018
13
Occurence of legacy and novel brominated flame retardants in food and feed in France for the period 2014 to 2016. 61
29843025 2018
14
Identification and Functional Analysis of Novel Bradykinin-Related Peptides (BRPs) from Skin Secretions of Five Asian Frogs. 61
30008150 2018
15
Complex Control of a Genomic Island Governing Biofilm and Rugose Colony Development in Vibrio vulnificus. 61
29760209 2018
16
A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome. 61
29305346 2018
17
Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1. 61
29316359 2018
18
Amphiphilic Bioactive Filler for Acrylic Bone Cement to Enhance Its Cell Adhesion. 61
31352953 2018
19
Electrical stimulation of microengineered skeletal muscle tissue: Effect of stimulus parameters on myotube contractility and maturation. 61
28622706 2018
20
Relation of the Brugada Phenocopy to Hyperkalemia (from the International Registry on Brugada Phenocopy). 61
29397883 2018
21
[Bainbridge-Ropers syndrome with ASXL3 gene variation in a child and literature review]. 61
29429203 2018
22
Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3. 61
29445472 2018
23
Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome. 61
29367179 2018
24
Collaborative study for the establishment of human immunoglobulin BRP replacement batches. 61
29944115 2018
25
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. 61
29628764 2018
26
A vapour phase assay for evaluating the antimicrobial activities of essential oils against bovine respiratory bacterial pathogens. 61
28915339 2017
27
Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome. 61
28955728 2017
28
Oxidation Kinetics of Bromophenols by Nonradical Activation of Peroxydisulfate in the Presence of Carbon Nanotube and Formation of Brominated Polymeric Products. 61
28806069 2017
29
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. 61
27901041 2017
30
Novel compound heterozygous ASXL3 mutation causing Bainbridge-ropers like syndrome and primary IGF1 deficiency. 61
28785287 2017
31
The impact of choosing words carefully: an online investigation into imaging reporting strategies and best practice care for low back pain. 61
29230375 2017
32
Ex Vivo Smooth Muscle Pharmacological Effects of a Novel Bradykinin-Related Peptide, and Its Analogue, from Chinese Large Odorous Frog, Odorrana livida Skin Secretions. 61
27690099 2016
33
Expert cardiologists cannot distinguish between Brugada phenocopy and Brugada syndrome electrocardiogram patterns. 61
26498159 2016
34
Brugada Phenocopy Induced by Electrolyte Disorder: A Transient Electrocardiographic Sign. 61
26910573 2016
35
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 61
27075689 2016
36
Hydroxylated polybrominated diphenyl ethers (OH-PBDEs) in paired maternal and neonatal samples from South China: Placental transfer and potential risks. 61
27035923 2016
37
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). 61
27085014 2016
38
Isolation and Transfection of Primary Culture Bovine Retinal Pericytes. 61
27172949 2016
39
Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders. 61
26506440 2015
40
Organobromine compound profiling in human adipose: Assessment of sources of bromophenol. 61
25935608 2015
41
A review on bradykinin-related peptides isolated from amphibian skin secretion. 61
25793726 2015
42
Establishment of hepatitis A vaccine (inactivated, non-adsorbed) BRP batches 2 and 3. 61
26830162 2015
43
Proteins of Bartonella bacilliformis: Candidates for Vaccine Development. 61
26413097 2015
44
A novel bradykinin-related dodecapeptide (RVALPPGFTPLR) from the skin secretion of the Fujian large-headed frog (Limnonectes fujianensis) exhibiting unusual structural and functional features. 61
25268979 2014
45
Oxidation of bromophenols and formation of brominated polymeric products of concern during water treatment with potassium permanganate. 61
25136744 2014
46
Bradykinin-related peptides (BRPs) from skin secretions of three genera of phyllomedusine leaf frogs and their comparative pharmacological effects on mammalian smooth muscles. 61
24394432 2014
47
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. 61
25161395 2014
48
Combination treatment with risperidone long-acting injection and psychoeducational approaches for preventing relapse in schizophrenia. 61
24194642 2013
49
Composition and antimicrobial activity of the skin peptidome of Russian brown frog Rana temporaria. 61
23121565 2012
50
Hydroxylated and methoxylated polybrominated diphenyl ethers in blood plasma of humans in Hong Kong. 61
22771521 2012

Variations for Bainbridge-Ropers Syndrome

ClinVar genetic disease variations for Bainbridge-Ropers Syndrome:

6 (show all 31) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ASXL3 NM_030632.3(ASXL3):c.1682C>A (p.Ser561Ter)SNV Pathogenic 224134 rs869312696 18:31319050-31319050 18:33739086-33739086
2 ASXL3 NM_030632.3(ASXL3):c.1210C>T (p.Gln404Ter)SNV Pathogenic 68451 rs587777061 18:31318578-31318578 18:33738614-33738614
3 ASXL3 NM_030632.3(ASXL3):c.1396C>T (p.Gln466Ter)SNV Pathogenic 68452 rs587777062 18:31318764-31318764 18:33738800-33738800
4 ASXL3 NM_030632.3(ASXL3):c.1422dup (p.Glu475Ter)duplication Pathogenic 68454 rs1555742148 18:31318789-31318790 18:33738825-33738826
5 ASXL3 NM_030632.3(ASXL3):c.1961dup (p.Ser654_Ser655insTer)duplication Pathogenic 375461 rs1057519498 18:31319328-31319329 18:33739364-33739365
6 ASXL3 NM_030632.3(ASXL3):c.1471C>T (p.Gln491Ter)SNV Pathogenic 417928 rs1060499602 18:31318839-31318839 18:33738875-33738875
7 ASXL3 NM_030632.3(ASXL3):c.3364C>T (p.Gln1122Ter)SNV Pathogenic 419279 rs1064793765 18:31323176-31323176 18:33743212-33743212
8 ASXL3 NM_030632.3(ASXL3):c.3464C>A (p.Ser1155Ter)SNV Pathogenic 426517 rs377619533 18:31323276-31323276 18:33743312-33743312
9 ASXL3 NM_030632.3(ASXL3):c.3106C>T (p.Arg1036Ter)SNV Pathogenic 429913 rs1131691668 18:31322918-31322918 18:33742954-33742954
10 ASXL3 NM_030632.3(ASXL3):c.1978_1981del (p.Asp660fs)deletion Pathogenic 441020 rs1555742500 18:31319343-31319346 18:33739379-33739382
11 ASXL3 NM_030632.3(ASXL3):c.1188_1191ACAG[1] (p.Thr398fs)short repeat Pathogenic 210364 rs797045317 18:31318556-31318559 18:33738592-33738595
12 ASXL3 NM_030632.3(ASXL3):c.1448dup (p.Thr484fs)duplication Pathogenic 522176 rs1555742167 18:31318815-31318816 18:33738851-33738852
13 ASXL3 NM_030632.3(ASXL3):c.4144C>T (p.Gln1382Ter)SNV Pathogenic 522179 rs1555744086 18:31323956-31323956 18:33743992-33743992
14 ASXL3 NM_030632.3(ASXL3):c.3039+1G>ASNV Pathogenic 522818 rs1555743003 18:31320408-31320408 18:33740444-33740444
15 ASXL3 NM_030632.3(ASXL3):c.1500del (p.Glu500fs)deletion Pathogenic 560241 rs1568359734 18:31318867-31318867 18:33738903-33738903
16 ASXL3 NM_030632.3(ASXL3):c.1351C>T (p.Gln451Ter)SNV Pathogenic 598774 rs1179499890 18:31318719-31318719 18:33738755-33738755
17 ASXL3 NM_030632.3(ASXL3):c.1847_1848AG[1] (p.Ser617fs)short repeat Pathogenic 635047 18:31319214-31319215 18:33739250-33739251
18 ASXL3 NM_030632.3(ASXL3):c.1884_1885del (p.Gly629fs)deletion Pathogenic 803483 18:31319252-31319253 18:33739288-33739289
19 ASXL3 NM_030632.3(ASXL3):c.3330_3333dup (p.Ala1112fs)duplication Pathogenic 803484 18:31323140-31323141 18:33743176-33743177
20 ASXL3 NM_030632.3(ASXL3):c.3494_3495del (p.Asn1164_Cys1165insTer)deletion Pathogenic 807545 18:31323305-31323306 18:33743341-33743342
21 ASXL3 NM_030632.3(ASXL3):c.3827_3830dup (p.Asn1278fs)duplication Pathogenic 807546 18:31323636-31323637 18:33743672-33743673
22 ASXL3 NM_030632.3(ASXL3):c.3010_3011AG[4] (p.Glu1006fs)short repeat Likely pathogenic 807544 18:31320377-31320378 18:33740413-33740414
23 ASXL3 NM_030632.1(ASXL3):c.1082+1784_3039+952del5197deletion Likely pathogenic 638608 18:31316158-31321355
24 ASXL3 NM_030632.3(ASXL3):c.2471C>T (p.Pro824Leu)SNV Likely pathogenic 800923 18:31319839-31319839 18:33739875-33739875
25 ASXL3 NM_030632.3(ASXL3):c.4072_4085del (p.Val1358fs)deletion Likely pathogenic 547900 rs1555744039 18:31323884-31323897 18:33743920-33743933
26 ASXL3 NM_030632.3(ASXL3):c.3349C>T (p.Arg1117Ter)SNV Conflicting interpretations of pathogenicity 279694 rs868044680 18:31323161-31323161 18:33743197-33743197
27 ASXL3 NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter)SNV Conflicting interpretations of pathogenicity 520661 rs1555744282 18:31324142-31324142 18:33744178-33744178
28 ASXL3 NM_030632.3(ASXL3):c.6640T>C (p.Ser2214Pro)SNV Uncertain significance 235902 rs878853168 18:31326452-31326452 18:33746488-33746488
29 ASXL3 NM_030632.3(ASXL3):c.4066A>G (p.Ser1356Gly)SNV Uncertain significance 634628 rs1568365522 18:31323878-31323878 18:33743914-33743914
30 ASXL3 NM_030632.3(ASXL3):c.6200T>G (p.Leu2067Arg)SNV Benign/Likely benign 218805 rs144534810 18:31326012-31326012 18:33746048-33746048
31 ASXL3 NM_030632.3(ASXL3):c.2074G>C (p.Ala692Pro)SNV not provided 441032 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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.34 H2AC15 BAP1

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

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 H2AC15 BAP1

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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