BOPS
MCID: BHR002
MIFTS: 48

Bohring-Opitz Syndrome (BOPS)

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

Aliases & Classifications for Bohring-Opitz Syndrome

MalaCards integrated aliases for Bohring-Opitz Syndrome:

Name: Bohring-Opitz Syndrome 57 25 20 43 58 72 36 29 13 6 39
Bohring Syndrome 57 20 43 58 72 70
Opitz Trigonocephaly-Like Syndrome 57 20 43 58 72
C-Like Syndrome 57 20 43 58 72
Oberklaid-Danks Syndrome 25 43 58
Bops 57 43 72
Bos Syndrome 20 58
Bos 57 43

Characteristics:

Orphanet epidemiological data:

58
bohring-opitz syndrome
Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
all reported cases have occurred de novo
death often occurs in childhood


HPO:

31
bohring-opitz syndrome:
Onset and clinical course death in infancy
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Bohring-Opitz Syndrome

MedlinePlus Genetics : 43 Bohring-Opitz syndrome is a rare condition that affects the development of many parts of the body.Most individuals with Bohring-Opitz syndrome have profound to severe intellectual disability, developmental delay, and seizures. Most affected individuals have a normal head shape and size with no brain abnormalities; however, some have abnormal development of the head. Abnormal development can lead to a small head size (microcephaly) and a skull abnormality called trigonocephaly, which gives the forehead a pointed appearance. Structural brain abnormalities can occur with or without head abnormalities. For example, the fluid-filled spaces near the center of the brain (ventricles) may be usually large (ventriculomegaly) or the tissue that connects the left and right halves of the brain (the corpus callosum) can be abnormally thin.Eye problems that can affect vision also occur in people with Bohring-Opitz syndrome. People with this disorder may have protruding eyes (exophthalmos), eyes that do not point in the same direction (strabismus), widely spaced eyes (hypertelorism), or outside corners of the eyes that point upward (upslanting palpebral fissures). Affected individuals may have severe nearsightedness (high myopia) or abnormalities in the light-sensitive tissue at the back of the eye (the retina) or the nerves that carry information from the eyes to the brain (optic nerves).Additional facial differences associated with Bohring-Opitz syndrome can include a flat nasal bridge, nostrils that open to the front rather than downward (anteverted nares), a high arch or opening in the roof of the mouth (high arched or cleft palate), a split in the upper lip (cleft lip), a small lower jaw (micrognathia), low-set ears that are rotated backward, a red birthmark (nevus simplex) on the face (usually the forehead), a low frontal hairline often with eyebrows that grow together in the middle (synophrys), and excessive body and facial hair (hirsutism) that increases with age.Some individuals with Bohring-Opitz syndrome have poor growth before birth (intrauterine growth retardation). During infancy, they grow and gain weight slowly and often have severe feeding difficulties with recurrent vomiting.People with this condition often have characteristic body positioning, known as Bohring-Opitz syndrome posture. This posture consists of slouching shoulders, bent elbows and wrists, hands positioned with the wrists or all of the fingers angled outward toward the fifth finger (ulnar deviation), with the legs usually extended straight. Affected individuals usually stop exhibiting the Bohring-Opitz syndrome posture as they get older. Other abnormalities include joint deformities (called contractures) that are apparent at birth in the knees, hips, or other joints and abnormal muscle tone. Affected individuals can have recurrent infections and heart, kidney, or genital abnormalities. In rare cases, a childhood form of kidney cancer known as Wilms tumor can develop.Some individuals with Bohring-Opitz syndrome do not survive past early childhood, while others live into adolescence or early adulthood. The most common causes of death are heart problems, abnormalities of the throat and airways that cause pauses in breathing (obstructive apnea), and lung infections.

MalaCards based summary : Bohring-Opitz Syndrome, also known as bohring syndrome, is related to cornelia de lange syndrome and buschke-ollendorff syndrome, and has symptoms including seizures and ulnar deviation of the wrist. An important gene associated with Bohring-Opitz Syndrome is ASXL1 (ASXL Transcriptional Regulator 1). The drugs Fibrin Tissue Adhesive and Coagulants have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and kidney, and related phenotypes are failure to thrive and global developmental delay

GARD : 20 Bohring-Opitz syndrome is a rare genetic condition characterized by intrauterine growth restriction (IUGR), failure to thrive, sleep apnea, developmental delay, hypotonia, flexion of the elbows and wrists, excessive hair growth, Wilm's tumor, microcephaly, brain malformations, and distinctive facial features. The condition is caused by mutations in the ASXL1 gene. The inheritance of Bohring-Opitz syndrome remains unknown, as nearly all cases to date have occurred sporadically.

OMIM® : 57 Bohring-Opitz syndrome is a malformation syndrome characterized by severe intrauterine growth retardation, poor feeding, profound mental retardation, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints (summary by Hoischen et al., 2011). See also the C syndrome (211750), a disorder with a similar phenotype caused by heterozygous mutation in the CD96 gene (606037) on chromosome 3q13. (605039) (Updated 20-May-2021)

KEGG : 36 Bohring-Opitz syndrome (BOPS) is characterized by trigonocephaly and associated anomalies, such as unusual facies, psychomotor retardation, redundant skin, joint and limb abnormalities, and visceral anomalies. BOPS is considered the more severe form of the C syndrome [DS:H01008], therefore known as C-like syndrome. Recently, It has been reported that de novo nonsense mutations in ASXL1 cause BOPS.

UniProtKB/Swiss-Prot : 72 Bohring-Opitz syndrome: A syndrome characterized by severe intrauterine growth retardation, poor feeding, profound mental retardation, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints.

Wikipedia : 73 Bohring-Opitz syndrome (BOS) is a medical syndrome caused by a mutation in the ASXL1... more...

GeneReviews: NBK481833

Related Diseases for Bohring-Opitz Syndrome

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

(show top 50) (show all 192)
# Related Disease Score Top Affiliating Genes
1 cornelia de lange syndrome 29.7 ASXL3 ASXL1
2 buschke-ollendorff syndrome 11.7
3 c syndrome 11.3
4 perching syndrome 11.2
5 cow milk allergy 11.2
6 branchiootorenal/branchiootic syndrome 10.9
7 melorheostosis, isolated 10.9
8 opitz gbbb syndrome, type i 10.8
9 microcephaly 10.5
10 bronchiolitis obliterans 10.5
11 bronchiolitis 10.5
12 tick infestation 10.4
13 brucellosis 10.4
14 hypertelorism 10.4
15 alacrima, achalasia, and mental retardation syndrome 10.4
16 exophthalmos 10.4
17 theileriasis 10.4
18 myopia 10.4
19 cleft lip 10.4
20 mastitis 10.3
21 mouth disease 10.3
22 cleft palate, isolated 10.3
23 bainbridge-ropers syndrome 10.3
24 cleft lip/palate 10.3
25 infertility 10.2
26 congestive heart failure 10.2
27 double outlet right ventricle 10.2
28 aortopulmonary window 10.2
29 diarrhea 10.2
30 babesiosis 10.2
31 trypanosomiasis 10.2
32 48,xyyy 10.2
33 hypoxia 10.2
34 hair whorl 10.1
35 lymphopenia 10.1
36 precocious puberty 10.1
37 gastroesophageal reflux 10.1
38 cornelia de lange syndrome 1 10.1
39 laryngomalacia 10.1
40 medulloblastoma 10.1
41 charge syndrome 10.1
42 retinitis pigmentosa 10.1
43 crisponi/cold-induced sweating syndrome 1 10.1
44 retinitis pigmentosa 42 10.1
45 pulmonary hypertension 10.1
46 sleep apnea 10.1
47 cold-induced sweating syndrome 10.1
48 urinary tract infection 10.1
49 neuroretinitis 10.1
50 respiratory failure 10.1

Graphical network of the top 20 diseases related to Bohring-Opitz Syndrome:



Diseases related to Bohring-Opitz Syndrome

Symptoms & Phenotypes for Bohring-Opitz Syndrome

Human phenotypes related to Bohring-Opitz Syndrome:

58 31 (show top 50) (show all 93)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
4 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
5 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
6 full cheeks 58 31 hallmark (90%) Very frequent (99-80%) HP:0000293
7 biparietal narrowing 58 31 hallmark (90%) Very frequent (99-80%) HP:0004422
8 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
9 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
10 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
11 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
12 upslanted palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000582
13 proptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000520
14 low anterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0000294
15 convex nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000444
16 ulnar deviation of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009465
17 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
18 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001376
19 underdeveloped supraorbital ridges 58 31 hallmark (90%) Very frequent (99-80%) HP:0009891
20 prominent metopic ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005487
21 trigonocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000243
22 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
23 thick hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0100874
24 nevus flammeus of the forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0007413
25 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
26 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
27 retinopathy 58 31 frequent (33%) Frequent (79-30%) HP:0000488
28 short thorax 58 31 frequent (33%) Frequent (79-30%) HP:0010306
29 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
30 wide intermamillary distance 58 31 frequent (33%) Frequent (79-30%) HP:0006610
31 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
32 cleft upper lip 58 31 frequent (33%) Frequent (79-30%) HP:0000204
33 platyspondyly 58 31 frequent (33%) Frequent (79-30%) HP:0000926
34 intestinal malrotation 58 31 frequent (33%) Frequent (79-30%) HP:0002566
35 narrow chest 58 31 frequent (33%) Frequent (79-30%) HP:0000774
36 elbow dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0003042
37 synophrys 58 31 frequent (33%) Frequent (79-30%) HP:0000664
38 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
39 supernumerary nipple 58 31 frequent (33%) Frequent (79-30%) HP:0002558
40 abnormality of the pancreas 58 31 frequent (33%) Frequent (79-30%) HP:0001732
41 accessory oral frenulum 58 31 frequent (33%) Frequent (79-30%) HP:0000191
42 abnormal anterior chamber morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000593
43 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
44 seizure 31 frequent (33%) HP:0001250
45 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
46 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
47 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
48 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
49 dandy-walker malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001305
50 talipes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001883

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
dandy-walker malformation
hypotonia
developmental delay
agenesis of the corpus callosum
more
Head And Neck Mouth:
narrow palate
cleft palate
broad alveolar ridges
cleft lip

Head And Neck Head:
microcephaly
trigonocephaly

Head And Neck Face:
prominent forehead
retrognathia
micrognathia
long face
facial hemangioma
more
Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Genitourinary Ureters:
vesicoureteral reflux

Skeletal Skull:
prominent metopic ridge
hypoplastic orbital ridges

Skeletal Feet:
deep plantar creases
short toes
overriding toes

Skeletal Hands:
camptodactyly
syndactyly
deep palmar creases
tapered fingers
broad hands
more
Abdomen Pancreas:
hyperechogenic pancreas

Skeletal Limbs:
radial head dislocation
upper limb rhizomelia
unusual upper limb position (elbow and wrist flexion)
ulnar deviation of the wrists

Skeletal:
contractures
dislocations

Growth Other:
failure to thrive
intrauterine growth retardation

Head And Neck Eyes:
hypertelorism
strabismus
myopia
upslanting palpebral fissures
prominent eyes
more
Growth Height:
short stature

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skin Nails Hair Skin:
sacral dimple
nevi flammei (philtrum, nape of neck, forehead)

Chest Breasts:
supernumerary nipple
widely spaced nipples

Skin Nails Hair Hair:
thick hair
hirsutism
low frontal hairline
long hair

Neurologic Peripheral Nervous System:
delayed myelination

Head And Neck Nose:
broad nasal bridge

Abdomen Gastrointestinal:
poor feeding
malrotation
severe gastroesophageal reflux

Clinical features from OMIM®:

605039 (Updated 20-May-2021)

UMLS symptoms related to Bohring-Opitz Syndrome:


seizures; ulnar deviation of the wrist

Drugs & Therapeutics for Bohring-Opitz Syndrome

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Fibrin Tissue Adhesive Early Phase 1
2 Coagulants Early Phase 1
3 Hemostatics Early Phase 1
4 Anesthetics
5 Fluorides
6 Anti-Infective Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparison of Bone Immunological Biomarkers and Microbiological Parameters of Extra Short Dental Implants and Standard Dental Implants Loaded in the Posterior Mandible Completed NCT04475406
2 Evaluation of Clinical Effects of Autologous Fibrin Glue Application as an Adjunct to Nonsurgical Periodontal Treatment of Chronic Periodontitis Completed NCT04082949 Early Phase 1
3 Short Term Follow-up of Patent Implanted With the B-BOP Lock Plate Completed NCT01284998
4 The Effect of Periodontal Therapy on Neopterin and Vascular Cell Adhesion Molecule-1 Levels in Chronic Periodontitis Patients With and Without Acute Myocardial Infarction Completed NCT03005886
5 Clinical Registry for ASXL-Related Disorders and Disorders of Chromatin Remodeling Recruiting NCT03303716
6 Prevalence of Periodontitis in Patients With Plaque Psoriasis. A Cross-sectional Study Recruiting NCT04722094
7 A Comparison of the Efficacy of Interdental Floss to Water Flosser Around Dental Implants in Maintenance Patients: a Randomized Controlled Trial Recruiting NCT04081311
8 Prevalence and Environmental Risk Indicators for Periodontitis. A Cross-sectional Study Recruiting NCT04771949
9 Long-term Results After Systematic Periodontal Therapy Enrolling by invitation NCT03048045

Search NIH Clinical Center for Bohring-Opitz Syndrome

Genetic Tests for Bohring-Opitz Syndrome

Genetic tests related to Bohring-Opitz Syndrome:

# Genetic test Affiliating Genes
1 Bohring-Opitz Syndrome 29 ASXL1

Anatomical Context for Bohring-Opitz Syndrome

MalaCards organs/tissues related to Bohring-Opitz Syndrome:

40
Brain, Heart, Kidney, Eye, Retina, Pancreas, Bone

Publications for Bohring-Opitz Syndrome

Articles related to Bohring-Opitz Syndrome:

(show top 50) (show all 67)
# Title Authors PMID Year
1
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. 61 25 57 6
22419483 2012
2
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. 25 61 6 57
21706002 2011
3
New cases of Bohring-Opitz syndrome, update, and critical review of the literature. 57 25 61
16691589 2006
4
Siblings with Bohring-Opitz syndrome. 57 61 25
12514360 2003
5
Bohring syndrome. 61 25 57
10861670 2000
6
Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. 25 57
17847009 2007
7
Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? 25 57
10405439 1999
8
The Opitz trigonocephaly syndrome. A case report. 25 57
1190170 1975
9
Evolution of a patient with Bohring-Opitz syndrome. 57 61
19606480 2009
10
Opitz trigonocephaly (C)-like syndrome, or Bohring-Opitz syndrome: another example. 61 57
10861668 2000
11
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. 25 61
29074562 2017
12
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome. 61 25
28229513 2017
13
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. 61 25
27901041 2017
14
Clinical application of whole-exome sequencing across clinical indications. 6
26633542 2016
15
Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome. 61 25
26364555 2015
16
Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance. 25 61
25921057 2015
17
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
18
Clinical whole exome sequencing in child neurology practice. 6
25131622 2014
19
Deletion of Asxl1 results in myelodysplasia and severe developmental defects in vivo. 25 61
24218140 2013
20
Expanding our knowledge of conditions associated with the ASXL gene family. 25 61
23672984 2013
21
Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis. 25 61
21368916 2011
22
A case of probable Bohring-Opitz syndrome with medulloblastoma. 61 25
20717007 2010
23
A Japanese boy with apparent Bohring-Opitz or "C-like" syndrome. 57
16528754 2006
24
"C" trigonocephaly syndrome with diaphragmnatic hernia. 57
7546453 1995
25
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. 25
28100473 2017
26
Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy. 25
27874174 2017
27
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. 25
27693232 2016
28
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. 25
27392078 2016
29
Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction. 25
26671848 2016
30
Timing, rates and spectra of human germline mutation. 25
26656846 2016
31
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. 25
24403048 2014
32
ASXL1 mutations promote myeloid transformation through loss of PRC2-mediated gene repression. 25
22897849 2012
33
Loss-of-function Additional sex combs like 1 mutations disrupt hematopoiesis but do not cause severe myelodysplasia or leukemia. 25
19861679 2010
34
Additional sex combs-like 1 belongs to the enhancer of trithorax and polycomb group and genetically interacts with Cbx2 in mice. 25
19833123 2010
35
Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature. 61
33751773 2021
36
Novel truncating mutations in ASXL1 identified in two boys with Bohring-Opitz syndrome. 61
33529703 2021
37
Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions. 61
33242595 2021
38
A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features. 61
31953236 2020
39
The tale of two genes: from next-generation sequencing to phenotype. 61
31969346 2020
40
Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies. 61
31692235 2020
41
A de novo truncating mutation in ASXL1 associated with segmental overgrowth. 61
31819025 2019
42
Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases. 61
30300710 2019
43
Pathological ASXL1 Mutations and Protein Variants Impair Neural Crest Development. 61
31006630 2019
44
Double outlet right ventricle and aortopulmonary window in a neonate with Bohring-Opitz (Oberklaid-Danks) syndrome: First case report. 61
31041292 2019
45
New macular findings in individuals with biallelic KLHL7 gene mutation. 61
30997404 2019
46
The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome. 61
30147881 2018
47
A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome. 61
29305346 2018
48
Lethal persistent pulmonary hypertension of the newborn in Bohring-Opitz syndrome. 61
29681105 2018
49
Bohring-Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother. 61
29681100 2018
50
Bohring-Opitz Syndrome 61
29446906 2018

Variations for Bohring-Opitz Syndrome

ClinVar genetic disease variations for Bohring-Opitz Syndrome:

6 (show all 41)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ASXL1 NM_015338.5(ASXL1):c.2773C>T (p.Gln925Ter) SNV Pathogenic 30985 rs387907077 GRCh37: 20:31023288-31023288
GRCh38: 20:32435485-32435485
2 ASXL1 NM_015338.5(ASXL1):c.1210C>T (p.Arg404Ter) SNV Pathogenic 30986 rs373145711 GRCh37: 20:31021211-31021211
GRCh38: 20:32433408-32433408
3 ASXL1 NM_015338.5(ASXL1):c.3083C>A (p.Ser1028Ter) SNV Pathogenic 30987 rs200702600 GRCh37: 20:31023598-31023598
GRCh38: 20:32435795-32435795
4 ASXL1 NM_015338.6(ASXL1):c.2535dup (p.Ser846fs) Duplication Pathogenic 30988 rs750170870 GRCh37: 20:31023045-31023046
GRCh38: 20:32435242-32435243
5 ASXL1 NM_015338.5(ASXL1):c.2197C>T (p.Gln733Ter) SNV Pathogenic 30989 rs387907078 GRCh37: 20:31022712-31022712
GRCh38: 20:32434909-32434909
6 ASXL1 NM_015338.6(ASXL1):c.2407_2411del (p.Gln803fs) Deletion Pathogenic 39468 rs1600588199 GRCh37: 20:31022921-31022925
GRCh38: 20:32435118-32435122
7 ASXL1 NM_015338.5(ASXL1):c.2893C>T (p.Arg965Ter) SNV Pathogenic 39469 rs397515401 GRCh37: 20:31023408-31023408
GRCh38: 20:32435605-32435605
8 ASXL1 NM_001164603.1(ASXL1):c.217A>T (p.Lys73Ter) SNV Pathogenic 488471 rs1555901138 GRCh37: 20:30956891-30956891
GRCh38: 20:32369088-32369088
9 ASXL1 NM_015338.5(ASXL1):c.3754_3758del (p.Gln1251_Asp1252insTer) Deletion Pathogenic 488446 rs1555912709 GRCh37: 20:31024265-31024269
GRCh38: 20:32436462-32436466
10 ASXL1 NM_015338.5(ASXL1):c.3202C>T (p.Arg1068Ter) SNV Pathogenic 431709 rs764651405 GRCh37: 20:31023717-31023717
GRCh38: 20:32435914-32435914
11 ASXL1 NM_015338.5(ASXL1):c.1283_1284del (p.Gln428fs) Deletion Pathogenic 598750 rs1569324457 GRCh37: 20:31021284-31021285
GRCh38: 20:32433481-32433482
12 ASXL1 NM_015338.5(ASXL1):c.4060G>T (p.Glu1354Ter) SNV Pathogenic 632646 rs1569339085 GRCh37: 20:31024575-31024575
GRCh38: 20:32436772-32436772
13 KLHL7 NM_001031710.3(KLHL7):c.249del (p.Phe83fs) Deletion Pathogenic 691635 rs1583657698 GRCh37: 7:23164330-23164330
GRCh38: 7:23124711-23124711
14 ASXL1 NM_001363734.1(ASXL1):c.975_976GT[2] (p.Val327fs) Microsatellite Pathogenic 288745 rs886043994 GRCh37: 20:31021158-31021159
GRCh38: 20:32433355-32433356
15 ASXL1 NM_015338.6(ASXL1):c.2416_2417dup (p.Val807fs) Duplication Pathogenic 694695 rs1600588239 GRCh37: 20:31022929-31022930
GRCh38: 20:32435126-32435127
16 ASXL1 NM_015338.6(ASXL1):c.1426_1427dup (p.Glu477fs) Duplication Pathogenic 803604 rs1600583334 GRCh37: 20:31021426-31021427
GRCh38: 20:32433623-32433624
17 ASXL1 NM_015338.6(ASXL1):c.2036dup (p.Gly680fs) Duplication Pathogenic 807543 rs1600586587 GRCh37: 20:31022547-31022548
GRCh38: 20:32434744-32434745
18 ASXL1 NM_015338.6(ASXL1):c.1720-1G>A SNV Pathogenic 870588 GRCh37: 20:31022234-31022234
GRCh38: 20:32434431-32434431
19 ASXL1 NM_015338.6(ASXL1):c.4048C>T (p.Gln1350Ter) SNV Pathogenic 976125 GRCh37: 20:31024563-31024563
GRCh38: 20:32436760-32436760
20 ASXL1 NM_015338.6(ASXL1):c.3437C>A (p.Ser1146Ter) SNV Pathogenic 1031902 GRCh37: 20:31023952-31023952
GRCh38: 20:32436149-32436149
21 ASXL1 NM_015338.5(ASXL1):c.3700C>T (p.Gln1234Ter) SNV Pathogenic 560957 rs1569337452 GRCh37: 20:31024215-31024215
GRCh38: 20:32436412-32436412
22 ASXL1 NM_015338.5(ASXL1):c.1934dup (p.Gly646fs) Duplication Pathogenic/Likely pathogenic 426927 rs750318549 GRCh37: 20:31022441-31022442
GRCh38: 20:32434638-32434639
23 ASXL1 NM_015338.6(ASXL1):c.658C>T (p.Gln220Ter) SNV Likely pathogenic 998006 GRCh37: 20:31017796-31017796
GRCh38: 20:32429993-32429993
24 ASXL1 NM_015338.6(ASXL1):c.643G>A (p.Ala215Thr) SNV Likely pathogenic 998008 GRCh37: 20:31017781-31017781
GRCh38: 20:32429978-32429978
25 ASXL1 NM_015338.6(ASXL1):c.3637del (p.Leu1213fs) Deletion Likely pathogenic 632647 rs1569337176 GRCh37: 20:31024150-31024150
GRCh38: 20:32436347-32436347
26 ASXL1 NM_015338.6(ASXL1):c.3769del (p.Ala1257fs) Deletion Likely pathogenic 666295 rs1600592990 GRCh37: 20:31024284-31024284
GRCh38: 20:32436481-32436481
27 ASXL1 NM_015338.6(ASXL1):c.69del (p.Tyr24fs) Deletion Likely pathogenic 1031903 GRCh37: 20:30954198-30954198
GRCh38: 20:32366395-32366395
28 ASXL1 NM_015338.5(ASXL1):c.*1556_*1557del Deletion Uncertain significance 338140 rs770877952 GRCh37: 20:31026697-31026698
GRCh38: 20:32438894-32438895
29 ASXL1 NM_015338.6(ASXL1):c.3460G>A (p.Gly1154Ser) SNV Uncertain significance 803605 rs199571804 GRCh37: 20:31023975-31023975
GRCh38: 20:32436172-32436172
30 ASXL1 NM_015338.6(ASXL1):c.1225A>G (p.Lys409Glu) SNV Uncertain significance 1030494 GRCh37: 20:31021226-31021226
GRCh38: 20:32433423-32433423
31 ASXL1 NM_015338.6(ASXL1):c.3946C>G (p.Arg1316Gly) SNV Uncertain significance 1030495 GRCh37: 20:31024461-31024461
GRCh38: 20:32436658-32436658
32 ASXL1 NM_015338.6(ASXL1):c.1387A>G (p.Ser463Gly) SNV Uncertain significance 1031900 GRCh37: 20:31021388-31021388
GRCh38: 20:32433585-32433585
33 ASXL1 NM_015338.6(ASXL1):c.1589C>T (p.Ala530Val) SNV Uncertain significance 1031901 GRCh37: 20:31021590-31021590
GRCh38: 20:32433787-32433787
34 ASXL1 NM_015338.6(ASXL1):c.3425A>G (p.Gln1142Arg) SNV Uncertain significance 982935 GRCh37: 20:31023940-31023940
GRCh38: 20:32436137-32436137
35 ASXL1 NM_001363734.1(ASXL1):c.4099_4101TCT[1] (p.Ser1368del) Microsatellite Uncertain significance 587611 rs1203207717 GRCh37: 20:31024795-31024797
GRCh38: 20:32436992-32436994
36 ASXL1 NM_015338.5(ASXL1):c.3351C>A (p.Pro1117=) SNV Uncertain significance 338107 rs373603259 GRCh37: 20:31023866-31023866
GRCh38: 20:32436063-32436063
37 ASXL1 NM_001164603.1(ASXL1):c.-88_-86GCC[5] Microsatellite Uncertain significance 338072 rs886056593 GRCh37: 20:30946488-30946489
GRCh38: 20:32358685-32358686
38 ASXL1 NM_001363734.1(ASXL1):c.3926_3928AGA[1] (p.Lys1310del) Microsatellite Uncertain significance 548554 rs752856195 GRCh37: 20:31024624-31024626
GRCh38: 20:32436821-32436823
39 ASXL1 NM_015338.5(ASXL1):c.3212C>T (p.Ala1071Val) SNV Likely benign 338106 rs531415735 GRCh37: 20:31023727-31023727
GRCh38: 20:32435924-32435924
40 ASXL1 NM_015338.5(ASXL1):c.2802T>C (p.Ala934=) SNV Likely benign 338102 rs571165637 GRCh37: 20:31023317-31023317
GRCh38: 20:32435514-32435514
41 ASXL1 NM_015338.5(ASXL1):c.2544A>T (p.Thr848=) SNV Likely benign 338100 rs142836262 GRCh37: 20:31023059-31023059
GRCh38: 20:32435256-32435256

Expression for Bohring-Opitz Syndrome

Search GEO for disease gene expression data for Bohring-Opitz Syndrome.

Pathways for Bohring-Opitz Syndrome

GO Terms for Bohring-Opitz Syndrome

Cellular components related to Bohring-Opitz Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 PR-DUB complex GO:0035517 8.62 ASXL3 ASXL1

Biological processes related to Bohring-Opitz Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 animal organ morphogenesis GO:0009887 8.96 ASXL3 ASXL1
2 transcription, DNA-templated GO:0006351 8.62 ASXL3 ASXL1

Molecular functions related to Bohring-Opitz Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 8.96 ASXL3 ASXL1
2 peroxisome proliferator activated receptor binding GO:0042975 8.62 ASXL3 ASXL1

Sources for Bohring-Opitz Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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