BOPS
MCID: BHR002
MIFTS: 47

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 56 24 52 25 58 73 36 13 39
C-Like Syndrome 56 52 25 58 73 29 6
Bohring Syndrome 56 52 25 58 73 71
Opitz Trigonocephaly-Like Syndrome 56 52 25 58 73
Oberklaid-Danks Syndrome 24 25 58
Bops 56 25 73
Bos Syndrome 52 58
Bos 56 25

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
bohring-opitz syndrome:
Clinical modifier death in infancy
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Bohring-Opitz Syndrome

Genetics Home Reference : 25 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 c-like syndrome, is related to buschke-ollendorff syndrome and branchiootic syndrome 1, 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). Affiliated tissues include brain, eye and heart, and related phenotypes are low-set ears and failure to thrive

NIH Rare Diseases : 52 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 : 56 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)

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 : 73 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 : 74 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 259)
# Related Disease Score Top Affiliating Genes
1 buschke-ollendorff syndrome 12.2
2 branchiootic syndrome 1 12.1
3 branchiootorenal/branchiootic syndrome 12.0
4 c syndrome 11.9
5 cow milk allergy 11.8
6 branchiootic syndrome 11.7
7 branchiootic syndrome 2 11.6
8 branchiootic syndrome 3 11.6
9 thrombocytopenia 11.6
10 perching syndrome 11.6
11 branchiootorenal syndrome 11.4
12 thrombocytopenic purpura, autoimmune 11.3
13 pulmonary embolism 11.3
14 melorheostosis, isolated 11.1
15 pulmonary fibrosis, idiopathic 11.1
16 osteopetrosis, autosomal dominant 3 11.1
17 thrombotic thrombocytopenic purpura 11.1
18 stachybotrys chartarum 11.1
19 opitz gbbb syndrome, type i 10.9
20 microcephaly 10.7
21 pancreatic cancer 10.7
22 hypertelorism 10.6
23 exophthalmos 10.6
24 bronchiolitis obliterans 10.6
25 bronchiolitis 10.6
26 adenocarcinoma 10.5
27 alacrima, achalasia, and mental retardation syndrome 10.5
28 myopia 10.5
29 cleft lip 10.5
30 brucellosis 10.5
31 congestive heart failure 10.5
32 double outlet right ventricle 10.5
33 aortopulmonary window 10.5
34 tick infestation 10.5
35 pancreatic adenocarcinoma 10.5
36 cleft palate, isolated 10.4
37 wilms tumor 5 10.4
38 cornelia de lange syndrome 10.4
39 cleft lip/palate 10.4
40 theileriasis 10.4
41 mastitis 10.4
42 diarrhea 10.4
43 mouth disease 10.4
44 48,xyyy 10.3
45 polycystic kidney disease 10.3
46 gastroesophageal reflux 10.3
47 cornelia de lange syndrome 1 10.3
48 laryngomalacia 10.3
49 medulloblastoma 10.3
50 charge syndrome 10.3

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 92)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
2 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
5 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
6 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
7 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
8 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
9 full cheeks 58 31 hallmark (90%) Very frequent (99-80%) HP:0000293
10 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
11 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
12 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001376
13 biparietal narrowing 58 31 hallmark (90%) Very frequent (99-80%) HP:0004422
14 proptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000520
15 upslanted palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000582
16 trigonocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000243
17 low anterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0000294
18 convex nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000444
19 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
20 ulnar deviation of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009465
21 underdeveloped supraorbital ridges 58 31 hallmark (90%) Very frequent (99-80%) HP:0009891
22 prominent metopic ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005487
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 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
27 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
28 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
29 retinopathy 58 31 frequent (33%) Frequent (79-30%) HP:0000488
30 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
31 narrow chest 58 31 frequent (33%) Frequent (79-30%) HP:0000774
32 platyspondyly 58 31 frequent (33%) Frequent (79-30%) HP:0000926
33 short thorax 58 31 frequent (33%) Frequent (79-30%) HP:0010306
34 wide intermamillary distance 58 31 frequent (33%) Frequent (79-30%) HP:0006610
35 synophrys 58 31 frequent (33%) Frequent (79-30%) HP:0000664
36 abnormality of the pancreas 58 31 frequent (33%) Frequent (79-30%) HP:0001732
37 cleft upper lip 58 31 frequent (33%) Frequent (79-30%) HP:0000204
38 intestinal malrotation 58 31 frequent (33%) Frequent (79-30%) HP:0002566
39 elbow dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0003042
40 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
41 supernumerary nipple 58 31 frequent (33%) Frequent (79-30%) HP:0002558
42 accessory oral frenulum 58 31 frequent (33%) Frequent (79-30%) HP:0000191
43 abnormal anterior chamber morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000593
44 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
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 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
48 short foot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001773
49 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
50 dandy-walker malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001305

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
strabismus
myopia
upslanting palpebral fissures
prominent eyes
more
Neurologic Central Nervous System:
seizures
dandy-walker malformation
developmental delay
hypotonia
agenesis of the corpus callosum
more
Head And Neck Mouth:
narrow palate
cleft palate
broad alveolar ridges
cleft lip

Head And Neck Face:
micrognathia
prominent forehead
retrognathia
long face
facial hemangioma
more
Head And Neck Head:
microcephaly
trigonocephaly

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

Skeletal Skull:
prominent metopic ridge
hypoplastic orbital ridges

Skeletal Feet:
deep plantar creases
short toes
overriding toes

Neurologic Peripheral Nervous System:
delayed myelination

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

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

Growth Other:
failure to thrive
intrauterine growth retardation

Growth Height:
short stature

Cardiovascular Heart:
ventricular septal defect
atrial septal defect

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Genitourinary Ureters:
vesicoureteral reflux

Chest Breasts:
supernumerary nipple
widely spaced nipples

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

Skeletal Hands:
camptodactyly
syndactyly
tapered fingers
deep palmar creases
broad hands
more
Head And Neck Nose:
broad nasal bridge

Abdomen Gastrointestinal:
poor feeding
malrotation
severe gastroesophageal reflux

Clinical features from OMIM:

605039

UMLS symptoms related to Bohring-Opitz Syndrome:


seizures, ulnar deviation of the wrist

Drugs & Therapeutics for Bohring-Opitz Syndrome

Interventional clinical trials:


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

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 C-Like Syndrome 29 ASXL1

Anatomical Context for Bohring-Opitz Syndrome

MalaCards organs/tissues related to Bohring-Opitz Syndrome:

40
Brain, Eye, Heart, Kidney, Lung, Skin, Retina

Publications for Bohring-Opitz Syndrome

Articles related to Bohring-Opitz Syndrome:

(show top 50) (show all 61)
# Title Authors PMID Year
1
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. 61 24 56 6
22419483 2012
2
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. 61 24 56 6
21706002 2011
3
Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. 61 24 56
17847009 2007
4
New cases of Bohring-Opitz syndrome, update, and critical review of the literature. 61 24 56
16691589 2006
5
Siblings with Bohring-Opitz syndrome. 61 24 56
12514360 2003
6
Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? 61 24 56
10405439 1999
7
Bohring syndrome. 24 56
10861670 2000
8
The Opitz trigonocephaly syndrome. A case report. 24 56
1190170 1975
9
Bohring-Opitz Syndrome 61 6
29446906 2018
10
Evolution of a patient with Bohring-Opitz syndrome. 61 56
19606480 2009
11
A Japanese boy with apparent Bohring-Opitz or "C-like" syndrome. 61 56
16528754 2006
12
Opitz trigonocephaly (C)-like syndrome, or Bohring-Opitz syndrome: another example. 61 56
10861668 2000
13
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. 61 24
29074562 2017
14
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome. 61 24
28229513 2017
15
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. 61 24
27901041 2017
16
Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome. 61 24
26364555 2015
17
Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance. 61 24
25921057 2015
18
Deletion of Asxl1 results in myelodysplasia and severe developmental defects in vivo. 61 24
24218140 2013
19
Expanding our knowledge of conditions associated with the ASXL gene family. 61 24
23672984 2013
20
Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis. 61 24
21368916 2011
21
A case of probable Bohring-Opitz syndrome with medulloblastoma. 61 24
20717007 2010
22
"C" trigonocephaly syndrome with diaphragmnatic hernia. 56
7546453 1995
23
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. 24
28100473 2017
24
Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy. 24
27874174 2017
25
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. 24
27693232 2016
26
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. 24
27392078 2016
27
Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction. 24
26671848 2016
28
Timing, rates and spectra of human germline mutation. 24
26656846 2016
29
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. 24
24403048 2014
30
ASXL1 mutations promote myeloid transformation through loss of PRC2-mediated gene repression. 24
22897849 2012
31
Loss-of-function Additional sex combs like 1 mutations disrupt hematopoiesis but do not cause severe myelodysplasia or leukemia. 24
19861679 2010
32
Additional sex combs-like 1 belongs to the enhancer of trithorax and polycomb group and genetically interacts with Cbx2 in mice. 24
19833123 2010
33
A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features. 61
31953236 2020
34
Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies. 61
31692235 2020
35
The tale of two genes- from next generation sequencing to phenotype. 61
31969346 2020
36
A de novo truncating mutation in ASXL1 associated with segmental overgrowth. 61
31819025 2019
37
Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases. 61
30300710 2019
38
Pathological ASXL1 Mutations and Protein Variants Impair Neural Crest Development. 61
31006630 2019
39
Double outlet right ventricle and aortopulmonary window in a neonate with Bohring-Opitz (Oberklaid-Danks) syndrome: First case report. 61
31041292 2019
40
New macular findings in individuals with biallelic KLHL7 gene mutation. 61
30997404 2019
41
The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome. 61
30147881 2018
42
A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome. 61
29305346 2018
43
Lethal persistent pulmonary hypertension of the newborn in Bohring-Opitz syndrome. 61
29681105 2018
44
Bohring-Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother. 61
29681100 2018
45
Loss of ASXL1 in the bone marrow niche dysregulates hematopoietic stem and progenitor cell fates. 61
29423272 2018
46
ASXL gain-of-function truncation mutants: defective and dysregulated forms of a natural ribosomal frameshifting product? 61
29037253 2017
47
Bohring-opitz syndrome - A case of a rare genetic disorder. 61
28889139 2017
48
Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples. 61
29093661 2017
49
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 61
27075689 2016
50
A novel de-novo frameshift mutation of the ASXL1 gene in a classic case of Bohring-Opitz syndrome. 61
27043953 2016

Variations for Bohring-Opitz Syndrome

ClinVar genetic disease variations for Bohring-Opitz Syndrome:

6 (show top 50) (show all 125) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ASXL1 NM_015338.5(ASXL1):c.2773C>T (p.Gln925Ter)SNV Pathogenic 30985 rs387907077 20:31023288-31023288 20:32435485-32435485
2 ASXL1 NM_015338.5(ASXL1):c.1210C>T (p.Arg404Ter)SNV Pathogenic 30986 rs373145711 20:31021211-31021211 20:32433408-32433408
3 ASXL1 NM_015338.5(ASXL1):c.3083C>A (p.Ser1028Ter)SNV Pathogenic 30987 rs200702600 20:31023598-31023598 20:32435795-32435795
4 ASXL1 NM_001363734.1(ASXL1):c.2352dup (p.Ser785fs)duplication Pathogenic 30988 20:31023045-31023046 20:32435242-32435243
5 ASXL1 NM_015338.5(ASXL1):c.2197C>T (p.Gln733Ter)SNV Pathogenic 30989 rs387907078 20:31022712-31022712 20:32434909-32434909
6 ASXL1 NM_001363734.1(ASXL1):c.2224_2228del (p.Gln742fs)deletion Pathogenic 39468 20:31022921-31022925 20:32435118-32435122
7 ASXL1 NM_015338.5(ASXL1):c.2893C>T (p.Arg965Ter)SNV Pathogenic 39469 rs397515401 20:31023408-31023408 20:32435605-32435605
8 ASXL1 NM_015338.5(ASXL1):c.3202C>T (p.Arg1068Ter)SNV Pathogenic 431709 rs764651405 20:31023717-31023717 20:32435914-32435914
9 ASXL1 NM_015338.5(ASXL1):c.3754_3758del (p.Gln1251_Asp1252insTer)deletion Pathogenic 488446 rs1555912709 20:31024265-31024269 20:32436462-32436466
10 ASXL1 NM_001164603.1(ASXL1):c.217A>T (p.Lys73Ter)SNV Pathogenic 488471 rs1555901138 20:30956891-30956891 20:32369088-32369088
11 ASXL1 NM_015338.5(ASXL1):c.3700C>T (p.Gln1234Ter)SNV Pathogenic 560957 rs1569337452 20:31024215-31024215 20:32436412-32436412
12 ASXL1 NM_015338.5(ASXL1):c.1283_1284del (p.Gln428fs)deletion Pathogenic 598750 rs1569324457 20:31021284-31021285 20:32433481-32433482
13 KLHL7 NM_001031710.3(KLHL7):c.249del (p.Phe83fs)deletion Pathogenic 691635 7:23164330-23164330 7:23124711-23124711
14 ASXL1 NM_015338.6(ASXL1):c.2416_2417dup (p.Val807fs)duplication Pathogenic 694695 20:31022929-31022930 20:32435126-32435127
15 ASXL1 NM_015338.6(ASXL1):c.1426_1427dup (p.Glu477fs)duplication Pathogenic 803604 20:31021426-31021427 20:32433623-32433624
16 ASXL1 NM_015338.5(ASXL1):c.4060G>T (p.Glu1354Ter)SNV Pathogenic 632646 rs1569339085 20:31024575-31024575 20:32436772-32436772
17 ASXL1 NM_015338.6(ASXL1):c.2036dup (p.Gly680fs)duplication Pathogenic 807543 20:31022547-31022548 20:32434744-32434745
18 ASXL1 NM_015338.5(ASXL1):c.1934dup (p.Gly646fs)duplication Pathogenic/Likely pathogenic 426927 rs750318549 20:31022441-31022442 20:32434638-32434639
19 ASXL1 NM_001363734.1(ASXL1):c.975_976GT[2] (p.Val327fs)short repeat Pathogenic/Likely pathogenic 288745 rs886043994 20:31021158-31021159 20:32433355-32433356
20 ASXL1 NM_015338.6(ASXL1):c.3637del (p.Leu1213fs)deletion Likely pathogenic 632647 rs1569337176 20:31024150-31024150 20:32436347-32436347
21 ASXL1 NM_015338.6(ASXL1):c.3769del (p.Ala1257fs)deletion Likely pathogenic 666295 20:31024284-31024284 20:32436481-32436481
22 ASXL1 NM_015338.5(ASXL1):c.3378C>T (p.His1126=)SNV Conflicting interpretations of pathogenicity 338109 rs137912806 20:31023893-31023893 20:32436090-32436090
23 ASXL1 NM_001363734.1(ASXL1):c.1359_1360TG[1] (p.Val454fs)short repeat Conflicting interpretations of pathogenicity 280245 rs777537805 20:31021543-31021544 20:32433740-32433741
24 ASXL1 NM_015338.5(ASXL1):c.1162G>A (p.Val388Ile)SNV Conflicting interpretations of pathogenicity 338084 rs145699348 20:31021163-31021163 20:32433360-32433360
25 ASXL1 NM_015338.5(ASXL1):c.1268A>G (p.Asn423Ser)SNV Uncertain significance 338085 rs886056598 20:31021269-31021269 20:32433466-32433466
26 ASXL1 NM_015338.5(ASXL1):c.1343T>C (p.Leu448Pro)SNV Uncertain significance 338087 rs886056599 20:31021344-31021344 20:32433541-32433541
27 ASXL1 NM_015338.5(ASXL1):c.*1342T>GSNV Uncertain significance 338139 rs561909665 20:31026483-31026483 20:32438680-32438680
28 ASXL1 NM_015338.5(ASXL1):c.*1556_*1557deldeletion Uncertain significance 338140 rs770877952 20:31026697-31026698 20:32438894-32438895
29 ASXL1 NM_015338.5(ASXL1):c.2908A>G (p.Ser970Gly)SNV Uncertain significance 338103 rs886056601 20:31023423-31023423 20:32435620-32435620
30 ASXL1 NM_015338.5(ASXL1):c.3351C>A (p.Pro1117=)SNV Uncertain significance 338107 rs373603259 20:31023866-31023866 20:32436063-32436063
31 ASXL1 NM_015338.5(ASXL1):c.2796A>G (p.Lys932=)SNV Uncertain significance 338101 rs886056600 20:31023311-31023311 20:32435508-32435508
32 ASXL1 NM_001164603.1(ASXL1):c.-223A>TSNV Uncertain significance 338065 rs886056587 20:30946356-30946356 20:32358553-32358553
33 ASXL1 NM_001164603.1(ASXL1):c.-159G>CSNV Uncertain significance 338068 rs886056590 20:30946420-30946420 20:32358617-32358617
34 ASXL1 NM_001164603.1(ASXL1):c.-92C>ASNV Uncertain significance 338071 rs886056592 20:30946487-30946487 20:32358684-32358684
35 ASXL1 NM_001164603.1(ASXL1):c.-88G>CSNV Uncertain significance 338073 rs886056594 20:30946491-30946491 20:32358688-32358688
36 ASXL1 NM_015338.5(ASXL1):c.890C>T (p.Thr297Met)SNV Uncertain significance 338080 rs373599045 20:31019393-31019393 20:32431590-32431590
37 ASXL1 NM_015338.5(ASXL1):c.930C>T (p.Asn310=)SNV Uncertain significance 338082 rs141414870 20:31019433-31019433 20:32431630-32431630
38 ASXL1 NM_015338.5(ASXL1):c.991C>G (p.His331Asp)SNV Uncertain significance 338083 rs886056597 20:31020694-31020694 20:32432891-32432891
39 ASXL1 NM_015338.5(ASXL1):c.1388G>C (p.Ser463Thr)SNV Uncertain significance 338088 rs373486603 20:31021389-31021389 20:32433586-32433586
40 ASXL1 NM_015338.5(ASXL1):c.3663A>C (p.Thr1221=)SNV Uncertain significance 338112 rs772983046 20:31024178-31024178 20:32436375-32436375
41 ASXL1 NM_015338.5(ASXL1):c.*1137C>TSNV Uncertain significance 338133 rs886056606 20:31026278-31026278 20:32438475-32438475
42 ASXL1 NM_015338.5(ASXL1):c.*1230C>TSNV Uncertain significance 338137 rs886056610 20:31026371-31026371 20:32438568-32438568
43 ASXL1 NM_015338.5(ASXL1):c.4493C>T (p.Thr1498Met)SNV Uncertain significance 133590 rs150119795 20:31025008-31025008 20:32437205-32437205
44 ASXL1 NM_001164603.1(ASXL1):c.-392G>ASNV Uncertain significance 338061 rs886056584 20:30946187-30946187 20:32358384-32358384
45 ASXL1 NM_001164603.1(ASXL1):c.-221C>TSNV Uncertain significance 338066 rs886056588 20:30946358-30946358 20:32358555-32358555
46 ASXL1 NM_001164603.1(ASXL1):c.-94C>GSNV Uncertain significance 338069 rs886056591 20:30946485-30946485 20:32358682-32358682
47 ASXL1 NM_015338.5(ASXL1):c.1336G>A (p.Val446Ile)SNV Uncertain significance 338086 rs376229687 20:31021337-31021337 20:32433534-32433534
48 ASXL1 NM_015338.5(ASXL1):c.2247C>T (p.Leu749=)SNV Uncertain significance 338094 rs772526658 20:31022762-31022762 20:32434959-32434959
49 ASXL1 NM_015338.5(ASXL1):c.1249C>T (p.Arg417Ter)SNV Uncertain significance 285668 rs375215583 20:31021250-31021250 20:32433447-32433447
50 ASXL1 NM_015338.5(ASXL1):c.3360G>A (p.Lys1120=)SNV Uncertain significance 338108 rs886056602 20:31023875-31023875 20:32436072-32436072

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
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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