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 54 50 24 25 56 71 13
Bohring Syndrome 50 25 56 71 69
C-Like Syndrome 50 25 56 71 29
Opitz Trigonocephaly-Like Syndrome 50 25 56 71
Oberklaid-Danks Syndrome 25 56
Bos Syndrome 50 56
Bops 25 71

Characteristics:

Orphanet epidemiological data:

56
bohring-opitz syndrome
Prevalence: <1/1000000 (Worldwide);

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

32
bohring-opitz syndrome:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Bohring-Opitz Syndrome

NIH Rare Diseases : 50 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 branchiootorenal/branchiootic syndrome and branchiootic syndrome 1, and has symptoms including failure to thrive, strabismus and myopia. An important gene associated with Bohring-Opitz Syndrome is ASXL1 (Additional Sex Combs Like 1, Transcriptional Regulator). Affiliated tissues include brain, pancreas and heart.

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.

Genetics Home Reference : 25 Bohring-Opitz syndrome is a rare condition that affects the development of many parts of the body.

OMIM : 54
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)

Related Diseases for Bohring-Opitz Syndrome

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

(show all 14)
id Related Disease Score Top Affiliating Genes
1 branchiootorenal/branchiootic syndrome 11.5
2 branchiootic syndrome 1 11.5
3 c syndrome 11.2
4 branchiootic syndrome 11.0
5 branchiootic syndrome 3 10.8
6 medulloblastoma 10.1
7 myopia 10.1
8 pancreatitis 10.0
9 nonseminomatous germ cell tumor 9.7
10 cardiomyopathy 9.7
11 pancreatic cancer 9.7
12 hepatitis 9.7
13 germ cells tumors 9.7
14 cataract 31, multiple types 9.5 ASXL1 ASXL3

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:

54

Growth- Height:
short stature

Neurologic- Central Nervous System:
hypotonia
developmental delay
seizures
mental retardation, profound
agenesis of the corpus callosum
more
Head And Neck- Eyes:
strabismus
myopia
hypertelorism
prominent eyes
upslanting palpebral fissures
more
Head And Neck- Face:
long face
micrognathia
prominent forehead
retrognathia
bitemporal narrowing
more
Abdomen- Gastroin testinal:
poor feeding
malrotation
severe gastroesophageal reflux

Cardiovascular- Heart:
atrial septal defect
ventricular septal defect

Chest- Breasts:
widely spaced nipples
supernumerary nipple

Skeletal:
contractures
dislocations

Genitourinary- Ureters:
vesicoureteral reflux

Neurologic- Peripheral Nervous System:
delayed myelination

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

Abdomen- Pancreas:
hyperechogenic pancreas

Growth- Other:
failure to thrive
intrauterine growth retardation

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

Head And Neck- Head:
microcephaly
trigonocephaly

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

Head And Neck- Mouth:
cleft palate
narrow palate
cleft lip
broad alveolar ridges

Prenatal Manifestations- Amniotic Fluid:
polyhydramnios

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

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

Skeletal- Feet:
short toes
overriding toes
deep plantar creases

Skeletal- Skull:
hypoplastic orbital ridges
prominent metopic ridge


Clinical features from OMIM:

605039

Human phenotypes related to Bohring-Opitz Syndrome:

56 32 (show top 50) (show all 89)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 56 32 hallmark (90%) Very frequent (99-80%) HP:0001508
2 strabismus 56 32 frequent (33%) Frequent (79-30%) HP:0000486
3 myopia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000545
4 intellectual disability, severe 56 32 hallmark (90%) Very frequent (99-80%) HP:0010864
5 seizures 56 32 frequent (33%) Frequent (79-30%) HP:0001250
6 microcephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000252
7 low-set ears 56 32 hallmark (90%) Very frequent (99-80%) HP:0000369
8 hypertelorism 56 32 frequent (33%) Frequent (79-30%) HP:0000316
9 proptosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000520
10 platyspondyly 56 32 frequent (33%) Frequent (79-30%) HP:0000926
11 intrauterine growth retardation 56 32 hallmark (90%) Very frequent (99-80%) HP:0001511
12 cleft palate 56 32 hallmark (90%) Very frequent (99-80%) HP:0000175
13 polyhydramnios 56 32 occasional (7.5%) Occasional (29-5%) HP:0001561
14 trigonocephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000243
15 retrognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000278
16 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
17 gastroesophageal reflux 56 32 frequent (33%) Frequent (79-30%) HP:0002020
18 elbow dislocation 56 32 frequent (33%) Frequent (79-30%) HP:0003042
19 narrow chest 56 32 frequent (33%) Frequent (79-30%) HP:0000774
20 low anterior hairline 56 32 hallmark (90%) Very frequent (99-80%) HP:0000294
21 inguinal hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000023
22 hypoplasia of the corpus callosum 56 32 frequent (33%) Frequent (79-30%) HP:0002079
23 cerebral cortical atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0002120
24 wide nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000431
25 full cheeks 56 32 hallmark (90%) Very frequent (99-80%) HP:0000293
26 synophrys 56 32 frequent (33%) Frequent (79-30%) HP:0000664
27 dandy-walker malformation 56 32 occasional (7.5%) Occasional (29-5%) HP:0001305
28 feeding difficulties 56 32 hallmark (90%) Very frequent (99-80%) HP:0011968
29 intestinal malrotation 56 32 frequent (33%) Frequent (79-30%) HP:0002566
30 retinopathy 56 32 frequent (33%) Frequent (79-30%) HP:0000488
31 talipes 56 32 occasional (7.5%) Occasional (29-5%) HP:0001883
32 hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000365
33 thick hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0100874
34 biparietal narrowing 56 32 hallmark (90%) Very frequent (99-80%) HP:0004422
35 convex nasal ridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000444
36 short thorax 56 32 frequent (33%) Frequent (79-30%) HP:0010306
37 supernumerary nipple 56 32 frequent (33%) Frequent (79-30%) HP:0002558
38 prominent metopic ridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0005487
39 underdeveloped supraorbital ridges 56 32 hallmark (90%) Very frequent (99-80%) HP:0009891
40 limitation of joint mobility 56 32 hallmark (90%) Very frequent (99-80%) HP:0001376
41 short foot 56 32 occasional (7.5%) Occasional (29-5%) HP:0001773
42 wide intermamillary distance 56 32 frequent (33%) Frequent (79-30%) HP:0006610
43 abnormality of the kidney 56 32 occasional (7.5%) Occasional (29-5%) HP:0000077
44 abnormality of the pancreas 56 32 frequent (33%) Frequent (79-30%) HP:0001732
45 upslanted palpebral fissure 56 32 hallmark (90%) Very frequent (99-80%) HP:0000582
46 camptodactyly of finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0100490
47 ulnar deviation of finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0009465
48 cleft upper lip 56 32 frequent (33%) Frequent (79-30%) HP:0000204
49 nevus flammeus of the forehead 56 32 hallmark (90%) Very frequent (99-80%) HP:0007413
50 accessory oral frenulum 56 32 frequent (33%) Frequent (79-30%) HP:0000191

UMLS symptoms related to Bohring-Opitz Syndrome:


seizures, ulnar deviation of the wrist

Drugs & Therapeutics for Bohring-Opitz Syndrome

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 C-Like Syndrome 29
2 Bohring-Opitz Syndrome 24 ASXL1

Anatomical Context for Bohring-Opitz Syndrome

MalaCards organs/tissues related to Bohring-Opitz Syndrome:

39
Brain, Pancreas, Heart, Kidney, Eye

Publications for Bohring-Opitz Syndrome

Articles related to Bohring-Opitz Syndrome:

(show all 15)
id Title Authors Year
1
Bohring-opitz syndrome - A case of a rare genetic disorder. ( 28889139 )
2017
2
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome. ( 28229513 )
2017
3
A novel de-novo frameshift mutation of the ASXL1 gene in a classic case of Bohring-Opitz syndrome. ( 27043953 )
2016
4
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes. ( 26768331 )
2016
5
Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome. ( 26364555 )
2015
6
Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance. ( 25921057 )
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

Variations for Bohring-Opitz Syndrome

ClinVar genetic disease variations for Bohring-Opitz Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ASXL1 NM_015338.5(ASXL1): c.2197C> T (p.Gln733Ter) single nucleotide variant Pathogenic rs387907078 GRCh37 Chromosome 20, 31022712: 31022712
2 ASXL1 ASLX1, 1-BP DUP, NT2535 duplication Pathogenic
3 ASXL1 NM_015338.5(ASXL1): c.2773C> T (p.Gln925Ter) single nucleotide variant Pathogenic rs387907077 GRCh37 Chromosome 20, 31023288: 31023288
4 ASXL1 NM_015338.5(ASXL1): c.1210C> T (p.Arg404Ter) single nucleotide variant Pathogenic rs373145711 GRCh37 Chromosome 20, 31021211: 31021211
5 ASXL1 NM_015338.5(ASXL1): c.3083C> A (p.Ser1028Ter) single nucleotide variant Pathogenic rs200702600 GRCh37 Chromosome 20, 31023598: 31023598
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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....