BOS
MCID: BSC001
MIFTS: 52

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 56 12 74 25 58 73 36 13 54 43 39
Dermatofibrosis Lenticularis Disseminata with Osteopoikilosis 56 12 52 25 73
Osteopathia Condensans Disseminata 56 12 52 25 73
Dermatoosteopoikilosis 56 12 52 25 73
Bos 56 12 52 25 73
Dermatofibrosis Lenticularis Disseminata 25 29 6 71
Disseminated Dermatofibrosis with Osteopoikilosis 12 58 73
Dermatofibrosis, Disseminated, with Osteopoikilosis 56 25
Dermatofibrosis, Disseminated with Osteopoikilosis 52
Osteopoikilosis with or Without Melorheostosis 56
Dermatofibrosis Disseminata Lenticularis 25
Buschke Ollendorff Syndrome 52
Osteopoikilosis, Isolated 71
Isolated Osteopoikilosis 58

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
autosomal dominant

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


HPO:

31
buschke-ollendorff syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Buschke-Ollendorff Syndrome

Genetics Home Reference : 25 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. Connective tissue nevi are small, noncancerous lumps on the skin. They tend to appear in childhood and are widespread in people with Buschke-Ollendorff syndrome. In some cases, the nevi are subtle and hard to feel. The most common form of these nevi are elastomas, which are made up of a type of stretchy connective tissue called elastic fibers. Less commonly, affected individuals have nevi called collagenomas, which are made up of another type of connective tissue called collagen. Osteopoikilosis, which is from the Greek words for "spotted bones," refers to small, round areas of increased bone density that appear as bright spots on x-rays. Osteopoikilosis usually occurs near the ends of the long bones of the arms and legs, and in the bones of the hands, feet, and pelvis. The areas of increased bone density appear during childhood. They do not cause pain or other health problems. Other bone abnormalities can also occur with Buschke-Ollendorff syndrome, although they are less common. For example, a small percentage of affected individuals have melorheostosis, which is characterized by excess bone growth on the surface of existing bones in a pattern resembling dripping candle wax. Melorheostosis usually affects the bones in one arm or leg, although it can also affect bones in other areas of the body. This abnormality can cause long-lasting (chronic) pain, permanent joint deformities (contractures), and a limited range of motion of the affected body part.

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 cortex, and related phenotypes are osteopoikilosis and connective tissue nevi

Disease Ontology : 12 A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has material basis in heterozygous mutation in LEMD3 on chromosome 12q14.3.

NIH Rare Diseases : 52 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 ), congenital spinal 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.

OMIM : 56 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)

KEGG : 36 Buschke-Ollendorff syndrome (BOS), also known as Osteopoikilosis, is a disorders characterized by increased bone density. Loss-of-function mutations in LEMD3, which encodes an inner nuclear membrane protein can result in these conditions. LEMD3 is thought to be involved in Smad signaling.

UniProtKB/Swiss-Prot : 73 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 : 74 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 231)
# Related Disease Score Top Affiliating Genes
1 melorheostosis 32.0 SMAD2 SMAD1 LEMD3
2 osteopoikilosis 31.1 SMAD2 SMAD1 LEMD3 ELN
3 bohring-opitz syndrome 12.1
4 branchiootorenal/branchiootic syndrome 12.0
5 melorheostosis, isolated 11.9
6 cow milk allergy 11.8
7 branchiootic syndrome 11.7
8 branchiootic syndrome 2 11.6
9 branchiootic syndrome 3 11.6
10 thrombocytopenia 11.6
11 branchiootorenal syndrome 11.4
12 thrombocytopenic purpura, autoimmune 11.3
13 pulmonary embolism 11.3
14 pulmonary fibrosis, idiopathic 11.1
15 osteopetrosis, autosomal dominant 3 11.1
16 thrombotic thrombocytopenic purpura 11.1
17 stachybotrys chartarum 11.1
18 elastoma 10.7
19 papular elastorrhexis 10.6
20 bronchiolitis obliterans 10.6
21 bronchiolitis 10.6
22 brucellosis 10.5
23 tick infestation 10.5
24 endosteal hyperostosis, autosomal dominant 10.5
25 pseudoxanthoma elasticum 10.5
26 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
27 spinal stenosis 10.5
28 fibrous dysplasia 10.5
29 theileriasis 10.4
30 mastitis 10.4
31 diarrhea 10.4
32 mouth disease 10.4
33 48,xyyy 10.3
34 neurofibromatosis, type ii 10.3
35 legg-calve-perthes disease 10.3
36 chromosome 2q35 duplication syndrome 10.3
37 temporal arteritis 10.3
38 branchiootic syndrome 1 10.3
39 fibroma 10.3
40 otosclerosis 10.3
41 ossifying fibroma 10.3
42 dysostosis 10.3
43 hyperostosis 10.3
44 craniosynostosis 10.3
45 mammary paget's disease 10.3
46 skin disease 10.3
47 protein c deficiency 10.3
48 alopecia 10.3
49 47,xyy 10.3
50 erythrokeratoderma ''en cocardes'' 10.3

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:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopoikilosis 58 31 obligate (100%) Obligate (100%) HP:0010739
2 connective tissue nevi 58 31 obligate (100%) Obligate (100%) HP:0100898
3 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
4 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002652
5 short stature 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004322
6 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
7 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001482
8 papule 58 31 hallmark (90%) Very frequent (99-80%) HP:0200034
9 ectopic kidney 58 31 hallmark (90%) Very frequent (99-80%) HP:0000086
10 generalized osteosclerosis 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0005789
11 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
12 flat occiput 58 31 hallmark (90%) Very frequent (99-80%) HP:0005469
13 generalized hypopigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007513
14 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
15 hyperostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100774
16 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
17 flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0001371
18 scleroderma 58 31 frequent (33%) Frequent (79-30%) HP:0100324
19 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
20 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
21 arthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001369
22 abnormality of the dentition 58 31 occasional (7.5%) Occasional (29-5%) HP:0000164
23 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
24 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
25 arthralgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002829
26 palmoplantar keratoderma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000982
27 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
28 myalgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003326
29 lymphedema 58 31 occasional (7.5%) Occasional (29-5%) HP:0001004
30 atypical scarring of skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000987
31 recurrent fractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002757
32 hoarse voice 58 31 occasional (7.5%) Occasional (29-5%) HP:0001609
33 abnormal aortic morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001679
34 hemangioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001028
35 generalized limb muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009055
36 diffuse skin atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007488
37 craniosynostosis 58 31 very rare (1%) Very rare (<4-1%) HP:0001363
38 cutaneous finger syndactyly 58 31 very rare (1%) Very rare (<4-1%) HP:0010554
39 abnormal bone structure 58 Very frequent (99-80%)
40 abnormal axial skeleton morphology 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
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

Cochrane evidence based reviews: buschke-ollendorff syndrome

Genetic Tests for Buschke-Ollendorff Syndrome

Genetic tests related to Buschke-Ollendorff Syndrome:

# Genetic test Affiliating Genes
1 Dermatofibrosis Lenticularis Disseminata 29 LEMD3

Anatomical Context for Buschke-Ollendorff Syndrome

MalaCards organs/tissues related to Buschke-Ollendorff Syndrome:

40
Skin, Bone, Cortex, Kidney, T Cells, Lung, Myeloid

Publications for Buschke-Ollendorff Syndrome

Articles related to Buschke-Ollendorff Syndrome:

(show top 50) (show all 130)
# Title Authors PMID Year
1
Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis. 54 61 56 6
17087626 2007
2
Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis. 61 56 6
19438932 2009
3
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. 61 56 6
15489854 2004
4
Melorheostosis in a family with autosomal dominant osteopoikilosis: report of a third family. 56 6
12749062 2003
5
Melorheostosis in a patient with familial osteopoikilosis. 56 6
9295073 1997
6
Buschke-Ollendorff syndrome associated with elevated elastin production by affected skin fibroblasts in culture. 54 61 56
1629625 1992
7
The Buschke-Ollendorff syndrome presenting as familial elastic tissue naevi. 61 56
11298556 2001
8
Osteopoikilosis: report of a familial case. 61 56
7888140 1994
9
Clinical considerations in Buschke-Ollendorff syndrome. 61 56
2302824 1990
10
Buschke-Ollendorff syndrome--disseminated dermatofibrosis with osteopoikilosis. 61 56
3519011 1986
11
Biochemical and ultrastructural demonstration of elastin accumulation in the skin lesions of the Buschke-Ollendorff syndrome. 61 56
7205030 1981
12
Juvenile elastoma and osteopoikilosis (the Buschke--Ollendorff syndrome). 61 56
588450 1977
13
Buschke--Ollendorff syndrome (disseminated dermatofibrosis with osteopoikilosis). 61 56
843441 1977
14
Osteopathia condensans disseminata (osteopoikilosis); study of a family of 4 generations. 61 56
13670325 1959
15
Familial cutaneous collagenomas resulting from a novel mutation in LEMD3. 56
17223882 2007
16
Melorheostosis may originate as a type 2 segmental manifestation of osteopoikilosis. 56
14994228 2004
17
Melorheostosis in a family with autosomal dominant osteopoikilosis. 56
10069713 1999
18
Symmetry of bone lesions in osteopoikilosis. Report of 4 cases. 56
1950500 1991
19
Radiological case of the month. Osteopoikilosis: familial documentation. 56
7369206 1980
20
Familial cutaneous collagenoma: genetic studies on a family. 56
486326 1979
21
The connective tissue nevus-osteopoikilosis syndrome. 56
5048221 1972
22
Connective-tissue nevus. Dermatofibrosis lenticularis disseminata with osteopoikilosis. 56
5470949 1970
23
Osteopoikilosis associated with dermatofibrosis lenticularis disseminata. 56
5358111 1969
24
Familial cutaneous collagenoma. Report of cases. 56
5657391 1968
25
Osteopoikilosis--a clinical and genetic study. 56
6020164 1967
26
A STUDY OF OSTEOPOIKILOSIS. 56
14075878 1963
27
[Familial osteopoikilosis]. 56
14467538 1962
28
Melorheostosis and osteopoikilosis, with a review of the literature. 56
13901391 1962
29
Connective tissue nevi; familial occurrence and association with osteopoikilosis. 56
13831874 1960
30
Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family. 54 61
20083694 2010
31
Buschke-Ollendorff syndrome. 54 61
18313966 2008
32
MAN1, an integral protein of the inner nuclear membrane, binds Smad2 and Smad3 and antagonizes transforming growth factor-beta signaling. 54 61
15601644 2005
33
Familial localized connective tissue nevus of the scalp with alopecia (report of a very unusual case). 54 61
15096150 2004
34
Elastic nevus with normal expression of elastin and elastin-related proteins mRNAs. 54 61
10393461 1999
35
Regulation of elastin synthesis in pathological states. 54 61
8575269 1995
36
Depressed indurated plaque with elastorrhexis as a distinctive lesion in Buschke-Ollendorff syndrome. 61
31943321 2020
37
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series. 61
31129707 2019
38
Structural basis for receptor-regulated SMAD recognition by MAN1. 61
30321401 2018
39
Buschke-Ollendorff syndrome due to a novel LEMD3 mutation - an unusual case of alopecia. 61
29465813 2018
40
Papular elastorrhexis: clinical perspectives. 61
30464568 2018
41
Juvenile elastoma without germline mutations in LEMD3 gene: A case of Buschke-Ollendorff syndrome? 61
29023873 2017
42
Acquired elastoma in a subungual location. 61
29469722 2017
43
Melorheostosis: a Rare Sclerosing Bone Dysplasia. 61
28676968 2017
44
Elastoma: clinical and histopathological aspects of a rare disease. 61
28300889 2016
45
Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome. 61
27007781 2016
46
The Buschke-Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand. 61
27267960 2016
47
Buschke-Ollendorff syndrome. 61
27115577 2016
48
Buschke-Ollendorff syndrome: a novel case series and systematic review. 61
26708699 2016
49
RNA recognition motif of LEMD3 as a key player in the pathogenesis of Buschke-Ollendorff syndrome. 61
26711937 2016
50
Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis. 61
26135202 2015

Variations for Buschke-Ollendorff Syndrome

ClinVar genetic disease variations for Buschke-Ollendorff Syndrome:

6 (show top 50) (show all 59) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LEMD3 LEMD3, 3-BP DEL/1-BP INSindel Pathogenic 2753
2 LEMD3 LEMD3, 1-BP DUP, 1185Tduplication Pathogenic 2754
3 LEMD3 LEMD3, 1-BP DUP, 2154Aduplication Pathogenic 2757
4 LEMD3 NM_014319.5(LEMD3):c.2564G>A (p.Trp855Ter)SNV Pathogenic 2758 rs267607216 12:65639711-65639711 12:65245931-65245931
5 LEMD3 NM_014319.5(LEMD3):c.1801G>T (p.Glu601Ter)SNV Pathogenic 620578 rs1565799131 12:65632474-65632474 12:65238694-65238694
6 LEMD3 NM_014319.5(LEMD3):c.2369_2370AT[1] (p.Met791fs)short repeat Likely pathogenic 623148 12:65637231-65637232 12:65243451-65243452
7 LEMD3 NM_014319.5(LEMD3):c.282C>G (p.Val94=)SNV Conflicting interpretations of pathogenicity 289423 rs867412512 12:65563658-65563658 12:65169878-65169878
8 LEMD3 NM_014319.5(LEMD3):c.1075G>A (p.Val359Ile)SNV Conflicting interpretations of pathogenicity 310232 rs376822761 12:65564451-65564451 12:65170671-65170671
9 LEMD3 NM_014319.5(LEMD3):c.618G>A (p.Glu206=)SNV Uncertain significance 310224 rs770408327 12:65563994-65563994 12:65170214-65170214
10 LEMD3 NM_014319.5(LEMD3):c.673G>C (p.Glu225Gln)SNV Uncertain significance 310226 rs886049776 12:65564049-65564049 12:65170269-65170269
11 LEMD3 NM_014319.5(LEMD3):c.882C>T (p.Leu294=)SNV Uncertain significance 310228 rs764393737 12:65564258-65564258 12:65170478-65170478
12 LEMD3 NM_014319.5(LEMD3):c.*1141A>GSNV Uncertain significance 310254 rs886049781 12:65641246-65641246 12:65247466-65247466
13 LEMD3 NM_014319.5(LEMD3):c.*1305T>GSNV Uncertain significance 310257 rs886049783 12:65641410-65641410 12:65247630-65247630
14 LEMD3 NM_014319.5(LEMD3):c.-6G>ASNV Uncertain significance 310217 rs747864180 12:65563371-65563371 12:65169591-65169591
15 LEMD3 NM_014319.5(LEMD3):c.345A>G (p.Pro115=)SNV Uncertain significance 310220 rs530591432 12:65563721-65563721 12:65169941-65169941
16 LEMD3 NM_014319.5(LEMD3):c.86G>C (p.Gly29Ala)SNV Uncertain significance 310218 rs886049773 12:65563462-65563462 12:65169682-65169682
17 LEMD3 NM_014319.5(LEMD3):c.1154C>G (p.Ser385Cys)SNV Uncertain significance 310233 rs372588607 12:65564530-65564530 12:65170750-65170750
18 LEMD3 NM_014319.5(LEMD3):c.*146A>GSNV Uncertain significance 310243 rs746798464 12:65640251-65640251 12:65246471-65246471
19 LEMD3 NM_014319.5(LEMD3):c.*1295G>ASNV Uncertain significance 310256 rs886049782 12:65641400-65641400 12:65247620-65247620
20 LEMD3 NM_014319.5(LEMD3):c.*1389G>TSNV Uncertain significance 310258 rs886049784 12:65641494-65641494 12:65247714-65247714
21 LEMD3 NM_014319.5(LEMD3):c.*1481C>TSNV Uncertain significance 310259 rs113095916 12:65641586-65641586 12:65247806-65247806
22 LEMD3 NM_014319.5(LEMD3):c.640G>T (p.Asp214Tyr)SNV Uncertain significance 310225 rs774803333 12:65564016-65564016 12:65170236-65170236
23 LEMD3 NM_014319.5(LEMD3):c.1063C>T (p.Pro355Ser)SNV Uncertain significance 310231 rs202161021 12:65564439-65564439 12:65170659-65170659
24 LEMD3 NM_014319.5(LEMD3):c.1627+12_1627+14deldeletion Uncertain significance 310235 rs886049778 12:65609835-65609837 12:65216055-65216057
25 LEMD3 NM_014319.5(LEMD3):c.1705C>T (p.Pro569Ser)SNV Uncertain significance 310238 rs374655981 12:65632291-65632291 12:65238511-65238511
26 LEMD3 NM_014319.5(LEMD3):c.1720A>G (p.Ile574Val)SNV Uncertain significance 310239 rs374107839 12:65632306-65632306 12:65238526-65238526
27 LEMD3 NM_014319.5(LEMD3):c.1813A>G (p.Ile605Val)SNV Uncertain significance 310240 rs886049779 12:65632486-65632486 12:65238706-65238706
28 LEMD3 NM_014319.5(LEMD3):c.*576A>GSNV Uncertain significance 310246 rs527664684 12:65640681-65640681 12:65246901-65246901
29 LEMD3 NM_014319.5(LEMD3):c.*790G>CSNV Uncertain significance 310249 rs886049780 12:65640895-65640895 12:65247115-65247115
30 LEMD3 NM_014319.5(LEMD3):c.28C>T (p.Gln10Ter)SNV Uncertain significance 632200 rs1565775031 12:65563404-65563404 12:65169624-65169624
31 LEMD3 NM_014319.5(LEMD3):c.*1759G>TSNV Uncertain significance 310261 rs886049785 12:65641864-65641864 12:65248084-65248084
32 LEMD3 NM_014319.5(LEMD3):c.2094T>G (p.His698Gln)SNV Uncertain significance 592089 rs1309178409 12:65633986-65633986 12:65240206-65240206
33 LEMD3 NM_014319.5(LEMD3):c.*225A>GSNV Uncertain significance 310244 rs139476203 12:65640330-65640330 12:65246550-65246550
34 LEMD3 NM_014319.5(LEMD3):c.2573-13T>GSNV Uncertain significance 310241 rs766410078 12:65639929-65639929 12:65246149-65246149
35 LEMD3 NM_014319.5(LEMD3):c.1027G>A (p.Gly343Arg)SNV Uncertain significance 310230 rs886049777 12:65564403-65564403 12:65170623-65170623
36 LEMD3 NM_014319.5(LEMD3):c.750C>T (p.Val250=)SNV Uncertain significance 310227 rs148964879 12:65564126-65564126 12:65170346-65170346
37 LEMD3 NM_014319.5(LEMD3):c.380C>T (p.Ala127Val)SNV Uncertain significance 310223 rs886049775 12:65563756-65563756 12:65169976-65169976
38 LEMD3 NM_014319.5(LEMD3):c.349A>G (p.Ser117Gly)SNV Uncertain significance 310221 rs886049774 12:65563725-65563725 12:65169945-65169945
39 LEMD3 NM_014319.5(LEMD3):c.1695+8A>GSNV Likely benign 310237 rs6581621 12:65612407-65612407 12:65218627-65218627
40 LEMD3 NM_014319.5(LEMD3):c.907G>T (p.Gly303Cys)SNV Likely benign 287374 rs35221558 12:65564283-65564283 12:65170503-65170503
41 LEMD3 NM_014319.5(LEMD3):c.*1635G>ASNV Likely benign 310260 rs12304180 12:65641740-65641740 12:65247960-65247960
42 LEMD3 NM_014319.5(LEMD3):c.*902G>ASNV Likely benign 310252 rs145080926 12:65641007-65641007 12:65247227-65247227
43 LEMD3 NM_014319.5(LEMD3):c.*895T>CSNV Likely benign 310251 rs182177872 12:65641000-65641000 12:65247220-65247220
44 LEMD3 NM_014319.5(LEMD3):c.*476C>TSNV Likely benign 310245 rs144515474 12:65640581-65640581 12:65246801-65246801
45 LEMD3 NM_014319.5(LEMD3):c.*915G>TSNV Likely benign 310253 rs117013092 12:65641020-65641020 12:65247240-65247240
46 LEMD3 NM_014319.5(LEMD3):c.*1901G>ASNV Likely benign 310263 rs12071 12:65642006-65642006 12:65248226-65248226
47 LEMD3 NM_014319.5(LEMD3):c.*884A>GSNV Likely benign 310250 rs117029005 12:65640989-65640989 12:65247209-65247209
48 LEMD3 NM_014319.5(LEMD3):c.*1156G>ASNV Likely benign 310255 rs11175698 12:65641261-65641261 12:65247481-65247481
49 LEMD3 NM_014319.5(LEMD3):c.*655C>TSNV Likely benign 310247 rs12302249 12:65640760-65640760 12:65246980-65246980
50 LEMD3 NM_014319.5(LEMD3):c.1628-11A>CSNV Likely benign 310236 rs6581620 12:65612321-65612321 12:65218541-65218541

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 SMAD2 SMAD1
2 nuclear inner membrane GO:0005637 8.96 SMAD1 LEMD3
3 SMAD protein complex GO:0071141 8.62 SMAD2 SMAD1

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

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

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 SMAD2 SMAD1
2 I-SMAD binding GO:0070411 9.16 SMAD2 SMAD1
3 primary miRNA binding GO:0070878 8.96 SMAD2 SMAD1
4 transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity GO:0030618 8.62 SMAD2 SMAD1

Sources for Buschke-Ollendorff 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
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43 MeSH
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48 NCI
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50 NDF-RT
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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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