MCID: BHR002
MIFTS: 39

Bohring-Opitz Syndrome

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

Aliases & Classifications for Bohring-Opitz Syndrome

MalaCards integrated aliases for Bohring-Opitz Syndrome:

Name: Bohring-Opitz Syndrome 53 49 24 55 71 13
Bohring Syndrome 53 49 24 55 71 69
C-Like Syndrome 53 49 24 55 71 28
Opitz Trigonocephaly-Like Syndrome 53 49 24 55 71
Bops 53 24 71
Oberklaid-Danks Syndrome 24 55
Bos Syndrome 49 55

Characteristics:

Orphanet epidemiological data:

55
bohring-opitz syndrome
Prevalence: <1/1000000 (Worldwide);

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
bohring-opitz syndrome:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Bohring-Opitz Syndrome

NIH Rare Diseases : 49 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.  Last updated: 4/12/2016

MalaCards based summary : Bohring-Opitz Syndrome, also known as bohring syndrome, is related to branchiootic syndrome 1 and branchiootorenal/branchiootic syndrome, and has symptoms including seizures, hypertelorism and low-set ears. An important gene associated with Bohring-Opitz Syndrome is ASXL1 (Additional Sex Combs Like 1, Transcriptional Regulator). Affiliated tissues include brain, pancreas and kidney.

Genetics Home Reference : 24 Bohring-Opitz syndrome is a rare condition that affects the development of many parts of the body.

OMIM : 53 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)

UniProtKB/Swiss-Prot : 71 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.

Related Diseases for Bohring-Opitz Syndrome

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

(show all 17)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 11.6
2 branchiootorenal/branchiootic syndrome 11.6
3 branchiootic syndrome 11.1
4 branchiootic syndrome 2 11.0
5 branchiootic syndrome 3 11.0
6 opitz gbbb syndrome, type i 10.7
7 medulloblastoma 10.1
8 wilms tumor 5 10.1
9 wilms tumor 6 10.1
10 myopia 10.1
11 pancreatitis 10.1
12 pancreatic cancer 9.9
13 hepatitis 9.9
14 hypertrophic cardiomyopathy 9.9
15 germ cells tumors 9.9
16 nonseminomatous germ cell tumor 9.9
17 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7

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



Diseases related to Bohring-Opitz Syndrome

Symptoms & Phenotypes for Bohring-Opitz Syndrome

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
dandy-walker malformation
developmental delay
hypotonia
agenesis of the corpus callosum
more
Head And Neck Ears:
low-set ears
posteriorly rotated ears

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 Gastroin testinal:
poor feeding
malrotation
severe gastroesophageal reflux

Abdomen Pancreas:
hyperechogenic pancreas

Head And Neck Eyes:
hypertelorism
strabismus
myopia
upslanting palpebral fissures
prominent eyes
more
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

Human phenotypes related to Bohring-Opitz Syndrome:

55 31 (show top 50) (show all 90)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
2 hypertelorism 55 31 frequent (33%) Frequent (79-30%) HP:0000316
3 low-set ears 55 31 hallmark (90%) Very frequent (99-80%) HP:0000369
4 failure to thrive 55 31 hallmark (90%) Very frequent (99-80%) HP:0001508
5 inguinal hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000023
6 hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000365
7 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
8 wide nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000431
9 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
10 gastroesophageal reflux 55 31 frequent (33%) Frequent (79-30%) HP:0002020
11 retinopathy 55 31 frequent (33%) Frequent (79-30%) HP:0000488
12 intellectual disability, severe 55 31 hallmark (90%) Very frequent (99-80%) HP:0010864
13 full cheeks 55 31 hallmark (90%) Very frequent (99-80%) HP:0000293
14 cleft palate 55 31 hallmark (90%) Very frequent (99-80%) HP:0000175
15 feeding difficulties 55 31 hallmark (90%) Very frequent (99-80%) HP:0011968
16 retrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000278
17 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
18 narrow chest 55 31 frequent (33%) Frequent (79-30%) HP:0000774
19 platyspondyly 55 31 frequent (33%) Frequent (79-30%) HP:0000926
20 limitation of joint mobility 55 31 hallmark (90%) Very frequent (99-80%) HP:0001376
21 short foot 55 31 occasional (7.5%) Occasional (29-5%) HP:0001773
22 short thorax 55 31 frequent (33%) Frequent (79-30%) HP:0010306
23 biparietal narrowing 55 31 hallmark (90%) Very frequent (99-80%) HP:0004422
24 intrauterine growth retardation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001511
25 wide intermamillary distance 55 31 frequent (33%) Frequent (79-30%) HP:0006610
26 myopia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000545
27 cerebral cortical atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0002120
28 abnormality of the kidney 55 31 occasional (7.5%) Occasional (29-5%) HP:0000077
29 abnormality of the pancreas 55 31 frequent (33%) Frequent (79-30%) HP:0001732
30 upslanted palpebral fissure 55 31 hallmark (90%) Very frequent (99-80%) HP:0000582
31 elbow dislocation 55 31 frequent (33%) Frequent (79-30%) HP:0003042
32 polyhydramnios 55 31 occasional (7.5%) Occasional (29-5%) HP:0001561
33 intestinal malrotation 55 31 frequent (33%) Frequent (79-30%) HP:0002566
34 low anterior hairline 55 31 hallmark (90%) Very frequent (99-80%) HP:0000294
35 convex nasal ridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000444
36 proptosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000520
37 camptodactyly of finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0100490
38 ulnar deviation of finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0009465
39 cleft upper lip 55 31 frequent (33%) Frequent (79-30%) HP:0000204
40 synophrys 55 31 frequent (33%) Frequent (79-30%) HP:0000664
41 dandy-walker malformation 55 31 occasional (7.5%) Occasional (29-5%) HP:0001305
42 talipes 55 31 occasional (7.5%) Occasional (29-5%) HP:0001883
43 prominent metopic ridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0005487
44 underdeveloped supraorbital ridges 55 31 hallmark (90%) Very frequent (99-80%) HP:0009891
45 hypoplasia of the corpus callosum 55 31 frequent (33%) Frequent (79-30%) HP:0002079
46 trigonocephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000243
47 supernumerary nipple 55 31 frequent (33%) Frequent (79-30%) HP:0002558
48 nevus flammeus of the forehead 55 31 hallmark (90%) Very frequent (99-80%) HP:0007413
49 accessory oral frenulum 55 31 frequent (33%) Frequent (79-30%) HP:0000191
50 thick hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0100874

UMLS symptoms related to Bohring-Opitz Syndrome:


ulnar deviation of the wrist, seizures

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 28 ASXL1

Anatomical Context for Bohring-Opitz Syndrome

MalaCards organs/tissues related to Bohring-Opitz Syndrome:

38
Brain, Pancreas, Kidney, Heart, Eye

Publications for Bohring-Opitz Syndrome

Articles related to Bohring-Opitz Syndrome:

(show all 16)
# Title Authors Year
1
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome. ( 28229513 )
2017
2
Bohring-opitz syndrome - A case of a rare genetic disorder. ( 28889139 )
2017
3
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes. ( 26768331 )
2016
4
A novel de-novo frameshift mutation of the ASXL1 gene in a classic case of Bohring-Opitz syndrome. ( 27043953 )
2016
5
Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance. ( 25921057 )
2015
6
Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome. ( 26364555 )
2015
7
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. ( 23383720 )
2013
8
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. ( 22419483 )
2012
9
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. ( 21706002 )
2011
10
A case of probable Bohring-Opitz syndrome with medulloblastoma. ( 20717007 )
2010
11
Evolution of a patient with Bohring-Opitz syndrome. ( 19606480 )
2009
12
Infantile high myopia in Bohring-Opitz syndrome. ( 17498985 )
2007
13
New cases of Bohring-Opitz syndrome, update, and critical review of the literature. ( 16691589 )
2006
14
Siblings with Bohring-Opitz syndrome. ( 12514360 )
2003
15
Opitz trigonocephaly (C)-like syndrome, or Bohring-Opitz syndrome: another example. ( 10861668 )
2000
16
Bohring-Opitz Syndrome ( 29446906 )
1993

Variations for Bohring-Opitz Syndrome

ClinVar genetic disease variations for Bohring-Opitz Syndrome:

6
# 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.1210C> T (p.Arg404Ter) single nucleotide variant Pathogenic rs373145711 GRCh37 Chromosome 20, 31021211: 31021211
3 ASXL1 NM_015338.5(ASXL1): c.3083C> A (p.Ser1028Ter) single nucleotide variant Pathogenic rs200702600 GRCh37 Chromosome 20, 31023598: 31023598
4 ASXL1 ASLX1, 1-BP DUP, NT2535 duplication Pathogenic
5 ASXL1 NM_015338.5(ASXL1): c.2197C> T (p.Gln733Ter) single nucleotide variant Pathogenic rs387907078 GRCh37 Chromosome 20, 31022712: 31022712
6 ASXL1 ASLX1, 5-BP DEL, NT2407 deletion Pathogenic
7 ASXL1 NM_015338.5(ASXL1): c.2893C> T (p.Arg965Ter) single nucleotide variant Pathogenic rs397515401 GRCh37 Chromosome 20, 31023408: 31023408

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

Sources for Bohring-Opitz Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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