BOPS
MCID: BHR002
MIFTS: 45

Bohring-Opitz Syndrome (BOPS)

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

Aliases & Classifications for Bohring-Opitz Syndrome

MalaCards integrated aliases for Bohring-Opitz Syndrome:

Name: Bohring-Opitz Syndrome 58 25 54 26 60 76 38 13 41
C-Like Syndrome 58 54 26 60 76 30 6
Bohring Syndrome 58 54 26 60 76 74
Opitz Trigonocephaly-Like Syndrome 58 54 26 60 76
Oberklaid-Danks Syndrome 25 26 60
Bops 58 26 76
Bos Syndrome 54 60
Bos 26

Characteristics:

Orphanet epidemiological data:

60
bohring-opitz syndrome
Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
bohring-opitz syndrome:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Bohring-Opitz Syndrome

OMIM : 58 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)

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, testes and pancreas, and related phenotypes are low-set ears and failure to thrive

Genetics Home Reference : 26 Bohring-Opitz syndrome is a rare condition that affects the development of many parts of the body.

NIH Rare Diseases : 54 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. 

UniProtKB/Swiss-Prot : 76 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 : 77 Bohring–Opitz syndrome (BOS) is a medical syndrome caused by a mutation in the ASXL1 gene. It is... 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 103)
# Related Disease Score Top Affiliating Genes
1 buschke-ollendorff syndrome 12.0
2 branchiootic syndrome 1 11.8
3 branchiootorenal/branchiootic syndrome 11.8
4 cow milk allergy 11.6
5 bronchiolitis obliterans 11.4
6 branchiootic syndrome 11.3
7 branchiootic syndrome 2 11.2
8 branchiootic syndrome 3 11.2
9 thrombocytopenic purpura, autoimmune 11.1
10 thrombocytopenia 11.1
11 pulmonary embolism 11.1
12 melorheostosis, isolated 11.0
13 pulmonary fibrosis, idiopathic 11.0
14 osteopetrosis, autosomal dominant 3 11.0
15 thrombotic thrombocytopenic purpura 11.0
16 opitz gbbb syndrome, type i 10.9
17 bronchiolitis 10.4
18 brucellosis 10.3
19 pancreatic cancer 10.3
20 medulloblastoma 10.3
21 wilms tumor 5 10.3
22 wilms tumor 6 10.3
23 pulmonary hypertension 10.3
24 myopia 10.3
25 mouth disease 10.3
26 tick infestation 10.2
27 polycystic kidney disease 10.2
28 mastitis 10.1
29 diarrhea 10.1
30 pleuropneumonia 10.1
31 theileriasis 10.1
32 echinococcosis 10.0
33 mantle cell lymphoma 10.0
34 pancreas adenocarcinoma 10.0
35 lymphoma 10.0
36 dermatitis 10.0
37 contact dermatitis 10.0
38 adenocarcinoma 10.0
39 thoracic outlet syndrome 10.0
40 hypertrophic cardiomyopathy 10.0
41 germ cells tumors 10.0
42 nonseminomatous germ cell tumor 10.0
43 leukocyte adhesion deficiency, type i 9.9
44 frasier syndrome 9.9
45 tetralogy of fallot 9.9
46 chikungunya 9.9
47 hemorrhagic disease 9.9
48 pneumonia 9.9
49 keratoconjunctivitis 9.9
50 babesiosis 9.9

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:

60 33 (show top 50) (show all 93)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000369
2 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
3 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
4 wide nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000431
5 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
6 intellectual disability, severe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010864
7 full cheeks 60 33 hallmark (90%) Very frequent (99-80%) HP:0000293
8 cleft palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000175
9 feeding difficulties 60 33 hallmark (90%) Very frequent (99-80%) HP:0011968
10 retrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000278
11 limitation of joint mobility 60 33 hallmark (90%) Very frequent (99-80%) HP:0001376
12 biparietal narrowing 60 33 hallmark (90%) Very frequent (99-80%) HP:0004422
13 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
14 upslanted palpebral fissure 60 33 hallmark (90%) Very frequent (99-80%) HP:0000582
15 low anterior hairline 60 33 hallmark (90%) Very frequent (99-80%) HP:0000294
16 convex nasal ridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000444
17 proptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000520
18 camptodactyly of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0100490
19 ulnar deviation of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009465
20 prominent metopic ridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005487
21 underdeveloped supraorbital ridges 60 33 hallmark (90%) Very frequent (99-80%) HP:0009891
22 trigonocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000243
23 nevus flammeus of the forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0007413
24 thick hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0100874
25 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
26 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
27 gastroesophageal reflux 60 33 frequent (33%) Frequent (79-30%) HP:0002020
28 retinopathy 60 33 frequent (33%) Frequent (79-30%) HP:0000488
29 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
30 narrow chest 60 33 frequent (33%) Frequent (79-30%) HP:0000774
31 platyspondyly 60 33 frequent (33%) Frequent (79-30%) HP:0000926
32 short thorax 60 33 frequent (33%) Frequent (79-30%) HP:0010306
33 wide intermamillary distance 60 33 frequent (33%) Frequent (79-30%) HP:0006610
34 cerebral cortical atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0002120
35 abnormality of the pancreas 60 33 frequent (33%) Frequent (79-30%) HP:0001732
36 elbow dislocation 60 33 frequent (33%) Frequent (79-30%) HP:0003042
37 intestinal malrotation 60 33 frequent (33%) Frequent (79-30%) HP:0002566
38 cleft upper lip 60 33 frequent (33%) Frequent (79-30%) HP:0000204
39 synophrys 60 33 frequent (33%) Frequent (79-30%) HP:0000664
40 hypoplasia of the corpus callosum 60 33 frequent (33%) Frequent (79-30%) HP:0002079
41 supernumerary nipple 60 33 frequent (33%) Frequent (79-30%) HP:0002558
42 accessory oral frenulum 60 33 frequent (33%) Frequent (79-30%) HP:0000191
43 abnormality of cardiovascular system morphology 33 frequent (33%) HP:0030680
44 abnormal anterior chamber morphology 33 frequent (33%) HP:0000593
45 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
46 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
47 short foot 60 33 occasional (7.5%) Occasional (29-5%) HP:0001773
48 myopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000545
49 abnormality of the kidney 60 33 occasional (7.5%) Occasional (29-5%) HP:0000077
50 polyhydramnios 60 33 occasional (7.5%) Occasional (29-5%) HP:0001561

Symptoms via clinical synopsis from OMIM:

58
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

Growth Height:
short stature

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skeletal Skull:
prominent metopic ridge
hypoplastic orbital ridges

Skeletal Feet:
deep plantar creases
short toes
overriding toes

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

Head And Neck Nose:
broad nasal bridge

Abdomen Gastrointestinal:
poor feeding
malrotation
severe gastroesophageal reflux

Abdomen Pancreas:
hyperechogenic pancreas

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

Growth Other:
failure to thrive
intrauterine growth retardation

Head And Neck Head:
microcephaly
trigonocephaly

Head And Neck Face:
prominent forehead
micrognathia
retrognathia
long face
facial hemangioma
more
Genitourinary Ureters:
vesicoureteral reflux

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

Chest Breasts:
supernumerary nipple
widely spaced nipples

Skeletal Hands:
camptodactyly
syndactyly
tapered fingers
deep palmar creases
broad hands
more
Neurologic Peripheral Nervous System:
delayed myelination

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

Skeletal:
contractures
dislocations

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 Registry Recruiting NCT03303716
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

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 30 ASXL1

Anatomical Context for Bohring-Opitz Syndrome

MalaCards organs/tissues related to Bohring-Opitz Syndrome:

42
Brain, Testes, Pancreas, Kidney, Heart, Eye

Publications for Bohring-Opitz Syndrome

Articles related to Bohring-Opitz Syndrome:

(show all 18)
# Title Authors Year
1
Lethal persistent pulmonary hypertension of the newborn in Bohring-Opitz syndrome. ( 29681105 )
2018
2
Bohring-Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother. ( 29681100 )
2018
3
The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome. ( 30147881 )
2018
4
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome. ( 28229513 )
2017
5
Bohring-opitz syndrome - A case of a rare genetic disorder. ( 28889139 )
2017
6
A novel de-novo frameshift mutation of the ASXL1 gene in a classic case of Bohring-Opitz syndrome. ( 27043953 )
2016
7
Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance. ( 25921057 )
2015
8
Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome. ( 26364555 )
2015
9
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. ( 23383720 )
2013
10
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. ( 22419483 )
2012
11
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. ( 21706002 )
2011
12
A case of probable Bohring-Opitz syndrome with medulloblastoma. ( 20717007 )
2010
13
Evolution of a patient with Bohring-Opitz syndrome. ( 19606480 )
2009
14
Infantile high myopia in Bohring-Opitz syndrome. ( 17498985 )
2007
15
New cases of Bohring-Opitz syndrome, update, and critical review of the literature. ( 16691589 )
2006
16
Siblings with Bohring-Opitz syndrome. ( 12514360 )
2003
17
Opitz trigonocephaly (C)-like syndrome, or Bohring-Opitz syndrome: another example. ( 10861668 )
2000
18
Bohring-Opitz Syndrome ( 29446906 )
1993

Variations for Bohring-Opitz Syndrome

ClinVar genetic disease variations for Bohring-Opitz Syndrome:

6 (show top 50) (show all 224)
# Gene Variation Type Significance SNP ID Assembly Location
1 ASXL1 NM_015338.5(ASXL1): c.2773C> T (p.Gln925Ter) single nucleotide variant Pathogenic rs387907077 GRCh37 Chromosome 20, 31023288: 31023288
2 ASXL1 NM_015338.5(ASXL1): c.2773C> T (p.Gln925Ter) single nucleotide variant Pathogenic rs387907077 GRCh38 Chromosome 20, 32435485: 32435485
3 ASXL1 NM_015338.5(ASXL1): c.1210C> T (p.Arg404Ter) single nucleotide variant Pathogenic rs373145711 GRCh37 Chromosome 20, 31021211: 31021211
4 ASXL1 NM_015338.5(ASXL1): c.1210C> T (p.Arg404Ter) single nucleotide variant Pathogenic rs373145711 GRCh38 Chromosome 20, 32433408: 32433408
5 ASXL1 NM_015338.5(ASXL1): c.3083C> A (p.Ser1028Ter) single nucleotide variant Pathogenic rs200702600 GRCh37 Chromosome 20, 31023598: 31023598
6 ASXL1 NM_015338.5(ASXL1): c.3083C> A (p.Ser1028Ter) single nucleotide variant Pathogenic rs200702600 GRCh38 Chromosome 20, 32435795: 32435795
7 ASXL1 ASLX1, 1-BP DUP, NT2535 duplication Pathogenic
8 ASXL1 NM_015338.5(ASXL1): c.2197C> T (p.Gln733Ter) single nucleotide variant Pathogenic rs387907078 GRCh37 Chromosome 20, 31022712: 31022712
9 ASXL1 NM_015338.5(ASXL1): c.2197C> T (p.Gln733Ter) single nucleotide variant Pathogenic rs387907078 GRCh38 Chromosome 20, 32434909: 32434909
10 ASXL1 ASLX1, 5-BP DEL, NT2407 deletion Pathogenic
11 ASXL1 NM_015338.5(ASXL1): c.2893C> T (p.Arg965Ter) single nucleotide variant Pathogenic rs397515401 GRCh37 Chromosome 20, 31023408: 31023408
12 ASXL1 NM_015338.5(ASXL1): c.2893C> T (p.Arg965Ter) single nucleotide variant Pathogenic rs397515401 GRCh38 Chromosome 20, 32435605: 32435605
13 ASXL1 NM_015338.5(ASXL1): c.2957A> G (p.Asn986Ser) single nucleotide variant Likely benign rs145132837 GRCh37 Chromosome 20, 31023472: 31023472
14 ASXL1 NM_015338.5(ASXL1): c.2957A> G (p.Asn986Ser) single nucleotide variant Likely benign rs145132837 GRCh38 Chromosome 20, 32435669: 32435669
15 ASXL1 NM_015338.5(ASXL1): c.3745A> G (p.Met1249Val) single nucleotide variant Likely benign rs146141075 GRCh37 Chromosome 20, 31024260: 31024260
16 ASXL1 NM_015338.5(ASXL1): c.3745A> G (p.Met1249Val) single nucleotide variant Likely benign rs146141075 GRCh38 Chromosome 20, 32436457: 32436457
17 ASXL1 NM_015338.5(ASXL1): c.3692C> T (p.Ser1231Phe) single nucleotide variant Benign rs74638057 GRCh37 Chromosome 20, 31024207: 31024207
18 ASXL1 NM_015338.5(ASXL1): c.3692C> T (p.Ser1231Phe) single nucleotide variant Benign rs74638057 GRCh38 Chromosome 20, 32436404: 32436404
19 ASXL1 NM_015338.5(ASXL1): c.3935C> T (p.Ala1312Val) single nucleotide variant Likely benign rs148144203 GRCh37 Chromosome 20, 31024450: 31024450
20 ASXL1 NM_015338.5(ASXL1): c.3935C> T (p.Ala1312Val) single nucleotide variant Likely benign rs148144203 GRCh38 Chromosome 20, 32436647: 32436647
21 ASXL1 NM_015338.5(ASXL1): c.3973C> T (p.Leu1325Phe) single nucleotide variant Benign rs6057581 GRCh37 Chromosome 20, 31024488: 31024488
22 ASXL1 NM_015338.5(ASXL1): c.3973C> T (p.Leu1325Phe) single nucleotide variant Benign rs6057581 GRCh38 Chromosome 20, 32436685: 32436685
23 ASXL1 NM_015338.5(ASXL1): c.4493C> T (p.Thr1498Met) single nucleotide variant Uncertain significance rs150119795 GRCh37 Chromosome 20, 31025008: 31025008
24 ASXL1 NM_015338.5(ASXL1): c.4493C> T (p.Thr1498Met) single nucleotide variant Uncertain significance rs150119795 GRCh38 Chromosome 20, 32437205: 32437205
25 ASXL1 NM_015338.5(ASXL1): c.1954G> A (p.Gly652Ser) single nucleotide variant Benign rs3746609 GRCh37 Chromosome 20, 31022469: 31022469
26 ASXL1 NM_015338.5(ASXL1): c.1954G> A (p.Gly652Ser) single nucleotide variant Benign rs3746609 GRCh38 Chromosome 20, 32434666: 32434666
27 ASXL1 NM_015338.5(ASXL1): c.2251G> A (p.Val751Ile) single nucleotide variant Benign rs6058693 GRCh37 Chromosome 20, 31022766: 31022766
28 ASXL1 NM_015338.5(ASXL1): c.2251G> A (p.Val751Ile) single nucleotide variant Benign rs6058693 GRCh38 Chromosome 20, 32434963: 32434963
29 ASXL1 NM_015338.5(ASXL1): c.2395G> T (p.Asp799Tyr) single nucleotide variant Benign/Likely benign rs143594454 GRCh37 Chromosome 20, 31022910: 31022910
30 ASXL1 NM_015338.5(ASXL1): c.2395G> T (p.Asp799Tyr) single nucleotide variant Benign/Likely benign rs143594454 GRCh38 Chromosome 20, 32435107: 32435107
31 ASXL1 NM_015338.5(ASXL1): c.3306G> T (p.Glu1102Asp) single nucleotide variant Likely benign rs139115934 GRCh37 Chromosome 20, 31023821: 31023821
32 ASXL1 NM_015338.5(ASXL1): c.3306G> T (p.Glu1102Asp) single nucleotide variant Likely benign rs139115934 GRCh38 Chromosome 20, 32436018: 32436018
33 ASXL1 NM_015338.5(ASXL1): c.3503G> C (p.Ser1168Thr) single nucleotide variant Likely benign rs587778062 GRCh37 Chromosome 20, 31024018: 31024018
34 ASXL1 NM_015338.5(ASXL1): c.3503G> C (p.Ser1168Thr) single nucleotide variant Likely benign rs587778062 GRCh38 Chromosome 20, 32436215: 32436215
35 ASXL1 NM_015338.5(ASXL1): c.4189G> A (p.Gly1397Ser) single nucleotide variant Likely benign rs146464648 GRCh37 Chromosome 20, 31024704: 31024704
36 ASXL1 NM_015338.5(ASXL1): c.4189G> A (p.Gly1397Ser) single nucleotide variant Likely benign rs146464648 GRCh38 Chromosome 20, 32436901: 32436901
37 ASXL1 NM_015338.5(ASXL1): c.3519G> A (p.Leu1173=) single nucleotide variant Benign rs117901891 GRCh37 Chromosome 20, 31024034: 31024034
38 ASXL1 NM_015338.5(ASXL1): c.3519G> A (p.Leu1173=) single nucleotide variant Benign rs117901891 GRCh38 Chromosome 20, 32436231: 32436231
39 ASXL1 NM_015338.5(ASXL1): c.-392G> A single nucleotide variant Uncertain significance rs886056584 GRCh37 Chromosome 20, 30946187: 30946187
40 ASXL1 NM_015338.5(ASXL1): c.-392G> A single nucleotide variant Uncertain significance rs886056584 GRCh38 Chromosome 20, 32358384: 32358384
41 ASXL1 NM_015338.5(ASXL1): c.-221C> T single nucleotide variant Uncertain significance rs886056588 GRCh37 Chromosome 20, 30946358: 30946358
42 ASXL1 NM_015338.5(ASXL1): c.-221C> T single nucleotide variant Uncertain significance rs886056588 GRCh38 Chromosome 20, 32358555: 32358555
43 ASXL1 NM_015338.5(ASXL1): c.-94C> G single nucleotide variant Uncertain significance rs886056591 GRCh38 Chromosome 20, 32358682: 32358682
44 ASXL1 NM_015338.5(ASXL1): c.-94C> G single nucleotide variant Uncertain significance rs886056591 GRCh37 Chromosome 20, 30946485: 30946485
45 ASXL1 NM_015338.5(ASXL1): c.1336G> A (p.Val446Ile) single nucleotide variant Uncertain significance rs376229687 GRCh37 Chromosome 20, 31021337: 31021337
46 ASXL1 NM_015338.5(ASXL1): c.1336G> A (p.Val446Ile) single nucleotide variant Uncertain significance rs376229687 GRCh38 Chromosome 20, 32433534: 32433534
47 ASXL1 NM_015338.5(ASXL1): c.2247C> T (p.Leu749=) single nucleotide variant Uncertain significance rs772526658 GRCh37 Chromosome 20, 31022762: 31022762
48 ASXL1 NM_015338.5(ASXL1): c.2247C> T (p.Leu749=) single nucleotide variant Uncertain significance rs772526658 GRCh38 Chromosome 20, 32434959: 32434959
49 ASXL1 NM_015338.5(ASXL1): c.2985C> T (p.His995=) single nucleotide variant Benign rs62206933 GRCh37 Chromosome 20, 31023500: 31023500
50 ASXL1 NM_015338.5(ASXL1): c.2985C> T (p.His995=) single nucleotide variant Benign rs62206933 GRCh38 Chromosome 20, 32435697: 32435697

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 nuclear chromatin GO:0000790 8.96 ASXL1 ASXL3
2 PR-DUB complex GO:0035517 8.62 ASXL1 ASXL3

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

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

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 ASXL1 ASXL3
2 peroxisome proliferator activated receptor binding GO:0042975 8.62 ASXL1 ASXL3

Sources for Bohring-Opitz Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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