BOS
MCID: BSC001
MIFTS: 53

Buschke-Ollendorff Syndrome (BOS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Buschke-Ollendorff Syndrome

MalaCards integrated aliases for Buschke-Ollendorff Syndrome:

Name: Buschke-Ollendorff Syndrome 58 77 26 60 76 38 13 56 41
Dermatofibrosis Lenticularis Disseminata with Osteopoikilosis 58 54 26 76
Dermatofibrosis Lenticularis Disseminata 26 30 6 74
Osteopathia Condensans Disseminata 58 54 26 76
Dermatoosteopoikilosis 58 54 26 76
Bos 58 54 26 76
Dermatofibrosis, Disseminated, with Osteopoikilosis 58 26
Disseminated Dermatofibrosis with Osteopoikilosis 60 76
Dermatofibrosis, Disseminated with Osteopoikilosis 54
Osteopoikilosis with or Without Melorheostosis 58
Dermatofibrosis Disseminata Lenticularis 26
Buschke Ollendorff Syndrome 54
Osteopoikilosis, Isolated 74
Isolated Osteopoikilosis 60

Characteristics:

Orphanet epidemiological data:

60
buschke-ollendorff syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;
isolated osteopoikilosis
Inheritance: Autosomal dominant;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable expression
skin changes have onset in childhood
bone changes tend to develop after first decade


HPO:

33
buschke-ollendorff syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Buschke-Ollendorff Syndrome

OMIM : 58 Buschke-Ollendorff syndrome is an autosomal dominant connective tissue disorder manifest by multiple subcutaneous nevi or nodules. They may be either elastin-rich (elastoma) or collagen-rich (dermatofibrosis lenticularis disseminata) on histologic examination. The lesions are usually nontender and firm. Affected individuals also have osteopoikilosis (OPK), literally meaning 'spotted bones,' which are osteosclerotic foci that occur in the epiphyses and metaphyses of long bones, wrist, foot, ankle, pelvis, and scapula. Some individuals have both skin and bone manifestations, whereas others may lack skin or bone manifestations. Some individuals may also have melorheostosis (155950), which is characterized by 'flowing' hyperostosis of the cortex of tubular bones. Most reported cases of BOS and OPK are benign, and the bone lesions are found incidentally, although some patients may have joint pain (reviews by Hellemans et al., 2004 and Zhang et al., 2009). (166700)

MalaCards based summary : Buschke-Ollendorff Syndrome, also known as dermatofibrosis lenticularis disseminata with osteopoikilosis, is related to melorheostosis and osteopoikilosis, and has symptoms including joint stiffness An important gene associated with Buschke-Ollendorff Syndrome is LEMD3 (LEM Domain Containing 3), and among its related pathways/superpathways are DNA Damage/Telomere Stress Induced Senescence and Wnt / Hedgehog / Notch. Affiliated tissues include skin, bone and lung, and related phenotypes are osteopoikilosis and connective tissue nevi

Genetics Home Reference : 26 Buschke-Ollendorff syndrome is a hereditary disorder that primarily affects the skin and bones. Specifically, the condition is characterized by skin growths called connective tissue nevi and bone abnormalities, most commonly a pattern of increased bone density called osteopoikilosis. Buschke-Ollendorff syndrome is classified as a disorder of connective tissues, which provide support, strength, and flexibility to organs and tissues throughout the body.

NIH Rare Diseases : 54 Buschke Ollendorff syndrome (BOS) is a genetic condition of the connective tissue. Common signs and symptoms include non-cancerous skin lumps and spots of increased bone density (which can be seen on X-ray). Some people with BOS have both skin and bone symptoms, while others have one or the other.  Individual cases of BOS have occurred in association with joint pain, hearing disorders (e.g., otosclerosis), congenitalspinal stenosis, craniosynostosis, and nail patella syndrome. Symptoms of BOS may begin at any age, but most often present before age 20. BOS is caused by mutations in the LEMD3 gene. The mutation results in a loss of protein (also named LEMD3) that results in the excessive formation of bone tissue. It is not clear how the LEMD3 mutations cause the skin lumps or other features of BOS.  BOS is inherited in an autosomal dominant fashion. Affected members of the same family can have very different symptoms.

UniProtKB/Swiss-Prot : 76 Buschke-Ollendorff syndrome: A disease characterized by osteopoikilosis and disseminated connective-tissue nevi. Osteopoikilosis is a skeletal dysplasia characterized by a symmetric but unequal distribution of multiple hyperostotic areas in different parts of the skeleton. Elastic-type nevi (juvenile elastoma) and collagen-type nevi (dermatofibrosis lenticularis disseminata) have been described in BOS. Skin or bony lesions can be absent in some family members, whereas other relatives may have both.

Wikipedia : 77 Buschke–Ollendorff syndrome, is a rare genetic disorder associated with LEMD3. It is believed to be... more...

Related Diseases for Buschke-Ollendorff Syndrome

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

(show top 50) (show all 119)
# Related Disease Score Top Affiliating Genes
1 melorheostosis 32.2 LEMD3 SMAD2
2 osteopoikilosis 31.3 ELN LEMD3 SMAD1 SMAD2
3 bohring-opitz syndrome 12.0
4 melorheostosis, isolated 11.8
5 branchiootic syndrome 1 11.8
6 branchiootorenal/branchiootic syndrome 11.8
7 cow milk allergy 11.6
8 branchiootic syndrome 11.6
9 bronchiolitis obliterans 11.4
10 branchiootic syndrome 2 11.2
11 branchiootic syndrome 3 11.2
12 thrombocytopenia 11.2
13 thrombocytopenia due to platelet alloimmunization 11.2
14 pulmonary embolism 11.2
15 pulmonary fibrosis, idiopathic 11.0
16 osteopetrosis, autosomal dominant 3 11.0
17 thrombotic thrombocytopenic purpura 11.0
18 stachybotrys chartarum 11.0
19 melorheostosis with osteopoikilosis 10.5
20 elastoma 10.5
21 papular elastorrhexis 10.5
22 bronchiolitis 10.4
23 mccune-albright syndrome 10.4
24 fibrous dysplasia 10.4
25 brucellosis 10.3
26 diarrhea 10.3
27 chromosome 2q35 duplication syndrome 10.3
28 alopecia 10.3
29 craniosynostosis 10.3
30 skin disease 10.3
31 spinal stenosis 10.3
32 fibroma 10.3
33 otosclerosis 10.3
34 ossifying fibroma 10.3
35 mouth disease 10.3
36 polycystic kidney disease 10.2
37 tick infestation 10.2
38 mastitis 10.1
39 theileriasis 10.1
40 pleuropneumonia 10.1
41 neutrophil migration 10.0
42 leukemia 10.0
43 echinococcosis 10.0
44 hypoxia 10.0
45 leukocyte adhesion deficiency, type i 9.9
46 frasier syndrome 9.9
47 tetralogy of fallot 9.9
48 autism 9.9
49 aging 9.9
50 chikungunya 9.9

Graphical network of the top 20 diseases related to Buschke-Ollendorff Syndrome:



Diseases related to Buschke-Ollendorff Syndrome

Symptoms & Phenotypes for Buschke-Ollendorff Syndrome

Human phenotypes related to Buschke-Ollendorff Syndrome:

60 33 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopoikilosis 60 33 obligate (100%) Obligate (100%) HP:0010739
2 connective tissue nevi 60 33 obligate (100%) Obligate (100%) HP:0100898
3 abnormality of epiphysis morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0005930
4 skeletal dysplasia 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002652
5 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
6 short stature 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004322
7 subcutaneous nodule 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001482
8 ectopic kidney 60 33 hallmark (90%) Very frequent (99-80%) HP:0000086
9 generalized osteosclerosis 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0005789
10 abnormality of the metaphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000944
11 flat occiput 60 33 hallmark (90%) Very frequent (99-80%) HP:0005469
12 generalized hypopigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007513
13 bone pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0002653
14 hyperostosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100774
15 papule 60 33 hallmark (90%) Very frequent (99-80%) HP:0200034
16 joint stiffness 60 33 frequent (33%) Frequent (79-30%) HP:0001387
17 flexion contracture 60 33 frequent (33%) Frequent (79-30%) HP:0001371
18 scleroderma 60 33 frequent (33%) Frequent (79-30%) HP:0100324
19 hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0000822
20 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
21 arthritis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001369
22 abnormality of the dentition 60 33 occasional (7.5%) Occasional (29-5%) HP:0000164
23 visual impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000505
24 renal insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0000083
25 arthralgia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002829
26 palmoplantar keratoderma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000982
27 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
28 lymphedema 60 33 occasional (7.5%) Occasional (29-5%) HP:0001004
29 atypical scarring of skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0000987
30 myalgia 60 33 occasional (7.5%) Occasional (29-5%) HP:0003326
31 recurrent fractures 60 33 occasional (7.5%) Occasional (29-5%) HP:0002757
32 hoarse voice 60 33 occasional (7.5%) Occasional (29-5%) HP:0001609
33 generalized limb muscle atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0009055
34 abnormal aortic morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0001679
35 hemangioma 60 33 occasional (7.5%) Occasional (29-5%) HP:0001028
36 diffuse skin atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0007488
37 craniosynostosis 60 33 very rare (1%) Very rare (<4-1%) HP:0001363
38 cutaneous finger syndactyly 60 33 very rare (1%) Very rare (<4-1%) HP:0010554
39 abnormal bone structure 60 Very frequent (99-80%)
40 abnormal axial skeleton morphology 60 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

58
Skeletal:
osteosclerosis
stiff joints
osteopoikilosis ('spotted bones') typically located in epiphyses and metaphyses of long bones, wrist, foot, ankle, pelvis, and scapula
melorheostosis, typically affect diaphyses (less common)

Skin Nails Hair Skin:
subcutaneous nontender firm nodules
subcutaneous connective tissue nevi
elastin-rich connective tissue nevi (elastoma)
collagen-rich connective tissue nevi (dermatofibrosis lenticularis disseminata)

Clinical features from OMIM:

166700

UMLS symptoms related to Buschke-Ollendorff Syndrome:


joint stiffness

Drugs & Therapeutics for Buschke-Ollendorff Syndrome

Search Clinical Trials , NIH Clinical Center for Buschke-Ollendorff Syndrome

Genetic Tests for Buschke-Ollendorff Syndrome

Genetic tests related to Buschke-Ollendorff Syndrome:

# Genetic test Affiliating Genes
1 Dermatofibrosis Lenticularis Disseminata 30 LEMD3

Anatomical Context for Buschke-Ollendorff Syndrome

MalaCards organs/tissues related to Buschke-Ollendorff Syndrome:

42
Skin, Bone, Lung, Cortex, Kidney, Liver, Testes

Publications for Buschke-Ollendorff Syndrome

Articles related to Buschke-Ollendorff Syndrome:

(show top 50) (show all 1843)
# Title Authors Year
1
Adaptive response of reproduction to high-altitude hypoxic stress by altering mRNA expression of hypoxia-inducible factors in female yaks (Bos grunniens). ( 30950319 )
2019
2
Post-traumatic Intraocular Leiomyosarcoma in a Domestic Bovine Calf (Bos primigenius taurus). ( 31103058 )
2019
3
Candidate SNP of CACNA2D1 Gene Associated with Clinical Mastitis and Production Traits in Sahiwal (Bos taurus indicus) and Karan Fries (Bos taurus taurus × Bos taurus indicus). ( 29463160 )
2019
4
Ovarian follicular and luteal characteristics in Bos indicus-influenced beef cows using prostaglandin F2α with or without GnRH at the onset of the 5-day CO-Synch + controlled internal drug release (CIDR) protocol. ( 30826249 )
2019
5
Kazakhstani native cattle reveal highly divergent mtDNA from Bos taurus and Bos indicus lineages with an absence of Bos indicus Y chromosome. ( 30362209 )
2019
6
Yak (Bos grunniens) Tonsils: Morphological Description and Expression of IgA and IgG. ( 30365245 )
2019
7
Luteal blood flow measured by Doppler ultrasonography during the first three weeks after artificial insemination in pregnant and non-pregnant Bos indicus dairy cows. ( 30393273 )
2019
8
Proteomic analysis of Tianzhu White Yak (Bos grunniens) testis at different sexual developmental stages. ( 30628143 )
2019
9
Genomic copy number variation of the CHKB gene alters gene expression and affects growth traits of Chinese domestic yak (Bos grunniens) breeds. ( 30635784 )
2019
10
Hornless Nellore cattle (Bos indicus) carrying a novel 110 kbp duplication variant of the polled locus. ( 30644114 )
2019
11
Dietary Energy Levels Affect Growth Performance through Growth Hormone and Insulin-Like Growth Factor 1 in Yak (Bos grunniens). ( 30696034 )
2019
12
Attribute selection and model evaluation for the maternal and paternal imprinted genes in bovine (Bos Taurus) using supervised machine learning algorithms. ( 30697835 )
2019
13
Differential expression of cytokines in PBMC of Bos indicus and Bos taurus × Bos indicus cattle due to Brucella abortus S19 antigen. ( 30717621 )
2019
14
BOS is associated with decreased HDAC2 from steroid resistant lymphocytes in the small airways. ( 30303525 )
2019
15
Immunoexpression of aquaporins 1, 2, 3 and 4 in kidney of yak (Bos grunniens) on the Qinghai-Tibetan Plateau. ( 30328721 )
2019
16
Large-scale production of yak (Bos grunniens) chymosin A in Pichia pastoris. ( 30336214 )
2019
17
Early career achievement award: supplementing omega-6 fatty acids to enhance early embryonic development and pregnancy establishment in Bos indicus and B. taurus beef cows. ( 30351357 )
2019
18
The Barcelona Orthorexia Scale (BOS): development process using the Delphi method. ( 30076528 )
2019
19
Comparison of histological characteristics and expression of CD3 and CD79a among the hemal nodes, lymph nodes and spleens of yaks (Bos grunniens). ( 30024020 )
2019
20
Haematobia irritans parasitism of F1 yak × beef cattle (Bos grunniens × Bos taurus) hybrids. ( 31106462 )
2019
21
Effect of captive bolt gun length on brain trauma and post-stunning hind limb activity in finished cattle Bos taurus. ( 31082781 )
2019
22
Effect of Tris-egg Yolk, Soya Milk, and Liposome-based Extenders on Sahiwal (Bos indicus) Sperm Quality during Pre- and Post-Cryopreservation Stages. ( 31017609 )
2019
23
Rumen parameters of yaks (Bos grunniens) and indigenous cattle (Bos taurus) grazing on the Qinghai-Tibetan Plateau. ( 30985029 )
2019
24
Fine-tuned adaptation of embryo-endometrium pairs at implantation revealed by transcriptome analyses in Bos taurus. ( 30978203 )
2019
25
Heat tolerance responses in a Bos taurus cattle herd raised in a Brazilian climate. ( 30975414 )
2019
26
Estrous expression during a fixed-time artificial insemination protocol enhances development and interferon-tau messenger RNA expression in conceptuses from Bos indicus beef cows. ( 30968808 )
2019
27
Comparison between the 5-day cosynch and 7-day estradiol-based protocols for synchronization of ovulation and timed artificial insemination in suckled BOS taurus BEEF cows. ( 30947077 )
2019
28
A dual colour FISH method for routine validation of sexed Bos taurus semen. ( 30943959 )
2019
29
First detection of bovine coronavirus in Yak (Bos grunniens) and a bovine coronavirus genome with a recombinant HE gene. ( 30932810 )
2019
30
Identification and sequence characterization of melanocortin 1 receptor gene (MC1R) in Bos indicus versus (Bos taurus X Bos indicus). ( 30890019 )
2019
31
Expression of the bovine KLF6 gene polymorphisms and their association with carcass and body measures in Qinchuan cattle (Bos Taurus). ( 30880114 )
2019
32
Absence of a corpus luteum and relatively lesser concentrations of progesterone during the period of pre-ovulatory follicle emergence results in lesser pregnancy rates in Bos indicus cattle. ( 30853120 )
2019
33
Modern botanical analogue of endangered Yak (Bos mutus) dung from India: Plausible linkage with extant and extinct megaherbivores. ( 30840629 )
2019
34
The Bos taurus maternal microbiome: Role in determining the progeny early-life upper respiratory tract microbiome and health. ( 30840624 )
2019
35
Molecular Typing of Cryptosporidium Species Identified in Fecal Samples of Yaks ( Bos grunniens) of Qinghai Province, China. ( 30835169 )
2019
36
Muscle transcriptome signature and gene regulatory network analysis in two divergent lines of a hilly bovine species Mithun (Bos frontalis). ( 30822468 )
2019
37
Resynchronization of ovulation with new and reused intravaginal progesterone-releasing devices without previous pregnancy diagnosis in Bos taurus indicus cows subjected to timed-artificial insemination. ( 30811676 )
2019
38
Whole-genome scanning for the heat-resistance-associated genes in the Droughtmaster breed (Bos taurus). ( 30800606 )
2019
39
Insight into bovine (Bos indicus) spermatozoal whole transcriptome profile. ( 30784792 )
2019
40
Sarcosporidiosis: An Emerging Disease in Yaks (Bos grunniens) on the Qinghai Tibetan Plateau (QTP), China. ( 30778839 )
2019
41
Effect of plasma progesterone on oocyte recovery, oocyte quality, and early in-vitro developmental competence of embryos in Bos indicus dairy cows. ( 30765111 )
2019
42
Complete mitochondrial genome of Indian mithun, Bos frontalis and its phylogenetic implications. ( 30762166 )
2019
43
Impact of fetal versus maternal contributions of Bos indicus and Bos taurus genetics on embryonic and fetal development. ( 30759199 )
2019
44
Prediction of water intake to Bos indicus beef cattle raised under tropical conditions. ( 30753494 )
2019
45
Tick burden in Bos taurus cattle and its relationship with heat stress in three agroecological zones in the tropics of Colombia. ( 30732638 )
2019
46
BOS-93, a novel bromophenol derivative, induces apoptosis and autophagy in human A549 lung cancer cells via PI3K/Akt/mTOR and MAPK signaling pathway. ( 30988770 )
2019
47
Buschke-Ollendorff syndrome due to a novel LEMD3 mutation - an unusual case of alopecia. ( 29465813 )
2018
48
ASPIRATION PNEUMONIA IN TWO TIBETAN YAK BULLS ( BOS GRUNNIENS) AS A COMPLICATION OF KETAMINE-XYLAZINE-BUTORPHANOL ANESTHESIA FOR RECUMBENT CASTRATION. ( 29517446 )
2018
49
CATTLE ( BOS TAURUS) RESIST CHRONIC WASTING DISEASE FOLLOWING ORAL INOCULATION CHALLENGE OR TEN YEARS' NATURAL EXPOSURE IN CONTAMINATED ENVIRONMENTS. ( 29715064 )
2018
50
In this issue - September 2018: Identification of commercial piggeries using aerial photographs and image analysis • Destruction of foot-and-mouth disease virus in carcases in the field • Size of the Australian goat industry • P4 and fertility after AI in extensively managed Bos indicus cattle • Antimuellerian hormone levels not recommended in young bitches • A sarcoma on an echidna beak. ( 30152066 )
2018

Variations for Buschke-Ollendorff Syndrome

ClinVar genetic disease variations for Buschke-Ollendorff Syndrome:

6 (show top 50) (show all 112)
# Gene Variation Type Significance SNP ID Assembly Location
1 LEMD3 LEMD3, 3-BP DEL/1-BP INS indel Pathogenic
2 LEMD3 LEMD3, 1-BP DUP, 1185T duplication Pathogenic
3 LEMD3 LEMD3, 1-BP DUP, 2154A duplication Pathogenic
4 LEMD3 NM_014319.4(LEMD3): c.2564G> A (p.Trp855Ter) single nucleotide variant Pathogenic rs267607216 GRCh37 Chromosome 12, 65639711: 65639711
5 LEMD3 NM_014319.4(LEMD3): c.2564G> A (p.Trp855Ter) single nucleotide variant Pathogenic rs267607216 GRCh38 Chromosome 12, 65245931: 65245931
6 LEMD3 NM_014319.4(LEMD3): c.1560+10C> T single nucleotide variant Benign/Likely benign rs144815611 GRCh37 Chromosome 12, 65604753: 65604753
7 LEMD3 NM_014319.4(LEMD3): c.1560+10C> T single nucleotide variant Benign/Likely benign rs144815611 GRCh38 Chromosome 12, 65210973: 65210973
8 LEMD3 NM_014319.4(LEMD3): c.907G> T (p.Gly303Cys) single nucleotide variant Likely benign rs35221558 GRCh37 Chromosome 12, 65564283: 65564283
9 LEMD3 NM_014319.4(LEMD3): c.907G> T (p.Gly303Cys) single nucleotide variant Likely benign rs35221558 GRCh38 Chromosome 12, 65170503: 65170503
10 LEMD3 NM_014319.4(LEMD3): c.282C> G (p.Val94=) single nucleotide variant Uncertain significance rs867412512 GRCh37 Chromosome 12, 65563658: 65563658
11 LEMD3 NM_014319.4(LEMD3): c.282C> G (p.Val94=) single nucleotide variant Uncertain significance rs867412512 GRCh38 Chromosome 12, 65169878: 65169878
12 LEMD3 NM_014319.4(LEMD3): c.86G> C (p.Gly29Ala) single nucleotide variant Uncertain significance rs886049773 GRCh37 Chromosome 12, 65563462: 65563462
13 LEMD3 NM_014319.4(LEMD3): c.86G> C (p.Gly29Ala) single nucleotide variant Uncertain significance rs886049773 GRCh38 Chromosome 12, 65169682: 65169682
14 LEMD3 NM_014319.4(LEMD3): c.948C> T (p.Leu316=) single nucleotide variant Likely benign rs183253527 GRCh38 Chromosome 12, 65170544: 65170544
15 LEMD3 NM_014319.4(LEMD3): c.948C> T (p.Leu316=) single nucleotide variant Likely benign rs183253527 GRCh37 Chromosome 12, 65564324: 65564324
16 LEMD3 NM_014319.4(LEMD3): c.1154C> G (p.Ser385Cys) single nucleotide variant Uncertain significance rs372588607 GRCh38 Chromosome 12, 65170750: 65170750
17 LEMD3 NM_014319.4(LEMD3): c.1154C> G (p.Ser385Cys) single nucleotide variant Uncertain significance rs372588607 GRCh37 Chromosome 12, 65564530: 65564530
18 LEMD3 NM_014319.4(LEMD3): c.*146A> G single nucleotide variant Uncertain significance rs746798464 GRCh37 Chromosome 12, 65640251: 65640251
19 LEMD3 NM_014319.4(LEMD3): c.*146A> G single nucleotide variant Uncertain significance rs746798464 GRCh38 Chromosome 12, 65246471: 65246471
20 LEMD3 NM_014319.4(LEMD3): c.*688T> C single nucleotide variant Likely benign rs188087693 GRCh37 Chromosome 12, 65640793: 65640793
21 LEMD3 NM_014319.4(LEMD3): c.*688T> C single nucleotide variant Likely benign rs188087693 GRCh38 Chromosome 12, 65247013: 65247013
22 LEMD3 NM_014319.4(LEMD3): c.*1141A> G single nucleotide variant Uncertain significance rs886049781 GRCh37 Chromosome 12, 65641246: 65641246
23 LEMD3 NM_014319.4(LEMD3): c.*1141A> G single nucleotide variant Uncertain significance rs886049781 GRCh38 Chromosome 12, 65247466: 65247466
24 LEMD3 NM_014319.4(LEMD3): c.*1305T> G single nucleotide variant Uncertain significance rs886049783 GRCh37 Chromosome 12, 65641410: 65641410
25 LEMD3 NM_014319.4(LEMD3): c.*1305T> G single nucleotide variant Uncertain significance rs886049783 GRCh38 Chromosome 12, 65247630: 65247630
26 LEMD3 NM_014319.4(LEMD3): c.*1951C> T single nucleotide variant Likely benign rs11175699 GRCh38 Chromosome 12, 65248276: 65248276
27 LEMD3 NM_014319.4(LEMD3): c.*1951C> T single nucleotide variant Likely benign rs11175699 GRCh37 Chromosome 12, 65642056: 65642056
28 LEMD3 NM_014319.4(LEMD3): c.-6G> A single nucleotide variant Uncertain significance rs747864180 GRCh37 Chromosome 12, 65563371: 65563371
29 LEMD3 NM_014319.4(LEMD3): c.-6G> A single nucleotide variant Uncertain significance rs747864180 GRCh38 Chromosome 12, 65169591: 65169591
30 LEMD3 NM_014319.4(LEMD3): c.345A> G (p.Pro115=) single nucleotide variant Uncertain significance rs530591432 GRCh38 Chromosome 12, 65169941: 65169941
31 LEMD3 NM_014319.4(LEMD3): c.345A> G (p.Pro115=) single nucleotide variant Uncertain significance rs530591432 GRCh37 Chromosome 12, 65563721: 65563721
32 LEMD3 NM_014319.4(LEMD3): c.378C> T (p.Ser126=) single nucleotide variant Likely benign rs61736593 GRCh38 Chromosome 12, 65169974: 65169974
33 LEMD3 NM_014319.4(LEMD3): c.378C> T (p.Ser126=) single nucleotide variant Likely benign rs61736593 GRCh37 Chromosome 12, 65563754: 65563754
34 LEMD3 NM_014319.4(LEMD3): c.618G> A (p.Glu206=) single nucleotide variant Uncertain significance rs770408327 GRCh38 Chromosome 12, 65170214: 65170214
35 LEMD3 NM_014319.4(LEMD3): c.618G> A (p.Glu206=) single nucleotide variant Uncertain significance rs770408327 GRCh37 Chromosome 12, 65563994: 65563994
36 LEMD3 NM_014319.4(LEMD3): c.673G> C (p.Glu225Gln) single nucleotide variant Uncertain significance rs886049776 GRCh38 Chromosome 12, 65170269: 65170269
37 LEMD3 NM_014319.4(LEMD3): c.673G> C (p.Glu225Gln) single nucleotide variant Uncertain significance rs886049776 GRCh37 Chromosome 12, 65564049: 65564049
38 LEMD3 NM_014319.4(LEMD3): c.882C> T (p.Leu294=) single nucleotide variant Uncertain significance rs764393737 GRCh38 Chromosome 12, 65170478: 65170478
39 LEMD3 NM_014319.4(LEMD3): c.882C> T (p.Leu294=) single nucleotide variant Uncertain significance rs764393737 GRCh37 Chromosome 12, 65564258: 65564258
40 LEMD3 NM_014319.4(LEMD3): c.1075G> A (p.Val359Ile) single nucleotide variant Uncertain significance rs376822761 GRCh38 Chromosome 12, 65170671: 65170671
41 LEMD3 NM_014319.4(LEMD3): c.1075G> A (p.Val359Ile) single nucleotide variant Uncertain significance rs376822761 GRCh37 Chromosome 12, 65564451: 65564451
42 LEMD3 NM_014319.4(LEMD3): c.1523-12C> T single nucleotide variant Likely benign rs11175678 GRCh38 Chromosome 12, 65210914: 65210914
43 LEMD3 NM_014319.4(LEMD3): c.1523-12C> T single nucleotide variant Likely benign rs11175678 GRCh37 Chromosome 12, 65604694: 65604694
44 LEMD3 NM_014319.4(LEMD3): c.2658G> A (p.Lys886=) single nucleotide variant Likely benign rs17101179 GRCh38 Chromosome 12, 65246247: 65246247
45 LEMD3 NM_014319.4(LEMD3): c.2658G> A (p.Lys886=) single nucleotide variant Likely benign rs17101179 GRCh37 Chromosome 12, 65640027: 65640027
46 LEMD3 NM_014319.4(LEMD3): c.*884A> G single nucleotide variant Likely benign rs117029005 GRCh37 Chromosome 12, 65640989: 65640989
47 LEMD3 NM_014319.4(LEMD3): c.*884A> G single nucleotide variant Likely benign rs117029005 GRCh38 Chromosome 12, 65247209: 65247209
48 LEMD3 NM_014319.4(LEMD3): c.*1156G> A single nucleotide variant Likely benign rs11175698 GRCh37 Chromosome 12, 65641261: 65641261
49 LEMD3 NM_014319.4(LEMD3): c.*1156G> A single nucleotide variant Likely benign rs11175698 GRCh38 Chromosome 12, 65247481: 65247481
50 LEMD3 NM_014319.4(LEMD3): c.*1295G> A single nucleotide variant Uncertain significance rs886049782 GRCh37 Chromosome 12, 65641400: 65641400

Expression for Buschke-Ollendorff Syndrome

Search GEO for disease gene expression data for Buschke-Ollendorff Syndrome.

Pathways for Buschke-Ollendorff Syndrome

GO Terms for Buschke-Ollendorff Syndrome

Cellular components related to Buschke-Ollendorff Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 9.16 SMAD1 SMAD2
2 nuclear inner membrane GO:0005637 8.96 LEMD3 SMAD1
3 SMAD protein complex GO:0071141 8.62 SMAD1 SMAD2

Biological processes related to Buschke-Ollendorff Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein deubiquitination GO:0016579 9.43 SMAD1 SMAD2
2 transforming growth factor beta receptor signaling pathway GO:0007179 9.4 SMAD1 SMAD2
3 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.37 LEMD3 SMAD2
4 SMAD protein signal transduction GO:0060395 9.32 SMAD1 SMAD2
5 ureteric bud development GO:0001657 9.26 SMAD1 SMAD2
6 embryonic pattern specification GO:0009880 9.16 SMAD1 SMAD2
7 primary miRNA processing GO:0031053 8.96 SMAD1 SMAD2
8 SMAD protein complex assembly GO:0007183 8.62 SMAD1 SMAD2

Molecular functions related to Buschke-Ollendorff Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 co-SMAD binding GO:0070410 9.26 SMAD1 SMAD2
2 I-SMAD binding GO:0070411 9.16 SMAD1 SMAD2
3 primary miRNA binding GO:0070878 8.96 SMAD1 SMAD2
4 transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity GO:0030618 8.62 SMAD1 SMAD2

Sources for Buschke-Ollendorff 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
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45 MeSH
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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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