MCID: BSC001
MIFTS: 48

Buschke-Ollendorff Syndrome

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

Aliases & Classifications for Buschke-Ollendorff Syndrome

MalaCards integrated aliases for Buschke-Ollendorff Syndrome:

Name: Buschke-Ollendorff Syndrome 57 25 59 75 37 13 55 40
Dermatofibrosis Lenticularis Disseminata with Osteopoikilosis 57 53 25 75
Dermatofibrosis Lenticularis Disseminata 25 29 6 73
Osteopathia Condensans Disseminata 57 53 25 75
Dermatoosteopoikilosis 57 53 25 75
Bos 57 53 25 75
Dermatofibrosis, Disseminated, with Osteopoikilosis 57 25
Disseminated Dermatofibrosis with Osteopoikilosis 59 75
Dermatofibrosis, Disseminated with Osteopoikilosis 53
Osteopoikilosis with or Without Melorheostosis 57
Dermatofibrosis Disseminata Lenticularis 25
Buschke Ollendorff Syndrome 53
Osteopoikilosis, Isolated 73
Isolated Osteopoikilosis 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal dominant

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


HPO:

32
buschke-ollendorff syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Buschke-Ollendorff Syndrome

OMIM : 57 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 Th1 Differentiation Pathway. Affiliated tissues include skin, bone and cortex, and related phenotypes are abnormality of epiphysis morphology and hypertension

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 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.

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.

Wikipedia : 76 Buschke–Ollendorff syndrome, also known as dermatofibrosis lenticularis disseminata, is a rare genetic... more...

Related Diseases for Buschke-Ollendorff Syndrome

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

(show all 24)
# Related Disease Score Top Affiliating Genes
1 melorheostosis 31.3 LEMD3 SMAD2
2 osteopoikilosis 29.3 ELN LEMD3 SMAD1 SMAD2
3 bohring-opitz syndrome 11.7
4 branchiootic syndrome 1 11.6
5 branchiootorenal/branchiootic syndrome 11.6
6 cow milk allergy 11.4
7 melorheostosis, isolated 11.3
8 bronchiolitis obliterans 11.2
9 branchiootic syndrome 11.1
10 branchiootic syndrome 2 11.0
11 branchiootic syndrome 3 11.0
12 thrombocytopenia 11.0
13 thrombocytopenia due to platelet alloimmunization 11.0
14 pulmonary embolism 11.0
15 pulmonary fibrosis, idiopathic 10.8
16 elastoma 10.4
17 papular elastorrhexis 10.4
18 hypertrophic scars 10.1
19 alopecia 10.1
20 craniosynostosis 10.1
21 skin disease 10.1
22 spinal stenosis 10.1
23 otosclerosis 10.1
24 ossifying fibroma 10.1

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



Diseases related to Buschke-Ollendorff Syndrome

Symptoms & Phenotypes for Buschke-Ollendorff Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Buschke-Ollendorff Syndrome:

59 32 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
2 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
3 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
4 arthritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001369
5 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002652
6 abnormality of the dentition 59 32 occasional (7.5%) Occasional (29-5%) HP:0000164
7 joint stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0001387
8 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
9 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
10 short stature 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004322
11 flexion contracture 59 32 frequent (33%) Frequent (79-30%) HP:0001371
12 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
13 subcutaneous nodule 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001482
14 arthralgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002829
15 palmoplantar keratoderma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000982
16 ectopic kidney 59 32 hallmark (90%) Very frequent (99-80%) HP:0000086
17 generalized osteosclerosis 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0005789
18 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
19 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
20 lymphedema 59 32 occasional (7.5%) Occasional (29-5%) HP:0001004
21 atypical scarring of skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000987
22 myalgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003326
23 recurrent fractures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002757
24 flat occiput 59 32 hallmark (90%) Very frequent (99-80%) HP:0005469
25 generalized hypopigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007513
26 bone pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002653
27 hyperostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100774
28 hoarse voice 59 32 occasional (7.5%) Occasional (29-5%) HP:0001609
29 craniosynostosis 59 32 very rare (1%) Very rare (<4-1%) HP:0001363
30 papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200034
31 cutaneous finger syndactyly 59 32 very rare (1%) Very rare (<4-1%) HP:0010554
32 abnormal aortic morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0001679
33 hemangioma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001028
34 generalized limb muscle atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009055
35 scleroderma 59 32 frequent (33%) Frequent (79-30%) HP:0100324
36 osteopoikilosis 59 32 obligate (100%) Obligate (100%) HP:0010739
37 connective tissue nevi 59 32 obligate (100%) Obligate (100%) HP:0100898
38 diffuse skin atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0007488
39 nevus 32 HP:0003764
40 abnormal bone structure 59 Very frequent (99-80%)
41 abnormal axial skeleton morphology 59 Occasional (29-5%)

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 29 LEMD3

Anatomical Context for Buschke-Ollendorff Syndrome

MalaCards organs/tissues related to Buschke-Ollendorff Syndrome:

41
Skin, Bone, Cortex, Kidney

Publications for Buschke-Ollendorff Syndrome

Articles related to Buschke-Ollendorff Syndrome:

(show top 50) (show all 53)
# Title Authors Year
1
Buschke-Ollendorff syndrome due to a novel LEMD3 mutation - an unusual case of alopecia. ( 29465813 )
2018
2
Juvenile elastoma without germline mutations in LEMD3 gene: A case of Buschke-Ollendorff syndrome? ( 29023873 )
2017
3
Buschke-Ollendorff syndrome: a novel case series and systematic review. ( 26708699 )
2016
4
The Buschke-Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand. ( 27267960 )
2016
5
Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome. ( 27007781 )
2016
6
RNA recognition motif of LEMD3 as a key player in the pathogenesis of Buschke-Ollendorff syndrome. ( 26711937 )
2016
7
Buschke-Ollendorff syndrome. ( 27115577 )
2016
8
Buschke-Ollendorff syndrome presenting as a painful nodule. ( 27051689 )
2015
9
Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis. ( 26135202 )
2015
10
Ossifying fibroma in Buschke-Ollendorff syndrome. ( 24917176 )
2014
11
Buschke-Ollendorff syndrome accidentally diagnosed after a left ankle sprain. ( 24583550 )
2014
12
A 5-year-old with connective tissue nevi: Buschke-Ollendorff syndrome. ( 24726545 )
2014
13
Buschke-Ollendorff syndrome: sparing unnecessary investigations. ( 25184645 )
2014
14
An 8-year-old boy with multiple yellow papules and bony lesions. Buschke-Ollendorff syndrome. ( 23461687 )
2013
15
Buschke-Ollendorff syndrome associated with hypertrophic scar formation: a possible role for LEMD3 mutation. ( 21985280 )
2012
16
Buschke-Ollendorff syndrome and bilateral cutaneous syndactyly. ( 22150319 )
2012
17
An unusual presentation of Buschke-Ollendorff syndrome. ( 21679804 )
2011
18
Papular elastorrhexis and Buschke-Ollendorff syndrome are different entities. ( 21679808 )
2011
19
Buschke-Ollendorff syndrome with striking phenotypic variation resulting from a novel c.2203C&amp;gt;T nonsense mutation in LEMD3. ( 20678097 )
2011
20
Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family. ( 20083694 )
2010
21
Buschke-Ollendorff syndrome in a three-generation family: influence of a novel LEMD3 mutation to tropoelastin expression. ( 20732851 )
2010
22
Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis. ( 19438932 )
2009
23
Buschke-Ollendorff syndrome: a 32-month-old boy with elastomas and craniosynostosis. ( 18577041 )
2008
24
Buschke-Ollendorff syndrome: a manifestation of a heterozygous nonsense mutation in the LEMD3 gene. ( 18489034 )
2008
25
Buschke-Ollendorff syndrome. ( 18986450 )
2008
26
Buschke-Ollendorff syndrome. ( 18313966 )
2008
27
Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis. ( 17087626 )
2007
28
A novel heterozygous splice-site mutation of LEM domain-containing 3 in a Japanese kindred with Buschke-Ollendorff syndrome. ( 17505164 )
2007
29
Juvenile elastoma: a forme fruste of the Buschke-Ollendorff syndrome? ( 16197425 )
2005
30
Buschke-Ollendorff syndrome: three generations in a Japanese family. ( 15804302 )
2005
31
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. ( 15489854 )
2004
32
Buschke-Ollendorff syndrome. ( 12664025 )
2003
33
Buschke-Ollendorff syndrome: report of a case and interpretation of the clinical phenotype as a type 2 segmental manifestation of an autosomal dominant skin disease. ( 14639409 )
2003
34
Papular elastorrhexis: a distinct variant of connective tissue nevi or an incomplete form of Buschke-Ollendorff syndrome? ( 12372083 )
2002
35
Buschke-Ollendorff syndrome: early, unilateral and pronounced involvement may be explained as a type 2 segmental manifestation. ( 11701396 )
2001
36
The Buschke-Ollendorff syndrome presenting as familial elastic tissue naevi. ( 11298556 )
2001
37
Buschke-Ollendorff syndrome--differential diagnosis of disseminated connective tissue lesions. ( 11701413 )
2001
38
Buschke-Ollendorff syndrome in a grande multipara: a case report and short review of the literature. ( 9641521 )
1998
39
Buschke-Ollendorff syndrome, otosclerosis, and congenital spinal stenosis. ( 8170846 )
1994
40
Papular elastorrhexis: a variant of dermatofibrosis lenticularis disseminata (Buschke-Ollendorff syndrome)? ( 7873822 )
1994
41
Case report: osteopoikilosis and the Buschke-Ollendorff syndrome. ( 8391368 )
1993
42
What syndrome is this? Buschke-Ollendorff syndrome. ( 8493179 )
1993
43
Buschke-Ollendorff syndrome associated with elevated elastin production by affected skin fibroblasts in culture. ( 1629625 )
1992
44
Buschke-Ollendorff syndrome of the scalp: histologic and ultrastructural findings. ( 2050847 )
1991
45
Clinical considerations in Buschke-Ollendorff syndrome. ( 2302824 )
1990
46
Connective tissue nevus and osteopoikilosis in the hand: the Buschke-Ollendorff syndrome. ( 2738341 )
1989
47
Buschke-Ollendorff syndrome--disseminated dermatofibrosis with osteopoikilosis. ( 3519011 )
1986
48
Buschke-Ollendorff syndrome: report of a case. ( 3733487 )
1986
49
Buschke-ollendorff syndrome. ( 6825465 )
1983
50
An elastic tissue defect in dermatofibrosis lenticularis disseminata. Buschke-Ollendorff syndrome. ( 7066092 )
1982

Variations for Buschke-Ollendorff Syndrome

ClinVar genetic disease variations for Buschke-Ollendorff Syndrome:

6
(show top 50) (show all 107)
# 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 Conflicting interpretations of pathogenicity rs35221558 GRCh37 Chromosome 12, 65564283: 65564283
9 LEMD3 NM_014319.4(LEMD3): c.907G> T (p.Gly303Cys) single nucleotide variant Conflicting interpretations of pathogenicity 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.336C> T (p.Ala112=) single nucleotide variant Benign/Likely benign rs61736594 GRCh38 Chromosome 12, 65169932: 65169932
29 LEMD3 NM_014319.4(LEMD3): c.336C> T (p.Ala112=) single nucleotide variant Benign/Likely benign rs61736594 GRCh37 Chromosome 12, 65563712: 65563712
30 LEMD3 NM_014319.4(LEMD3): c.349A> G (p.Ser117Gly) single nucleotide variant Uncertain significance rs886049774 GRCh38 Chromosome 12, 65169945: 65169945
31 LEMD3 NM_014319.4(LEMD3): c.349A> G (p.Ser117Gly) single nucleotide variant Uncertain significance rs886049774 GRCh37 Chromosome 12, 65563725: 65563725
32 LEMD3 NM_014319.4(LEMD3): c.380C> T (p.Ala127Val) single nucleotide variant Uncertain significance rs886049775 GRCh38 Chromosome 12, 65169976: 65169976
33 LEMD3 NM_014319.4(LEMD3): c.380C> T (p.Ala127Val) single nucleotide variant Uncertain significance rs886049775 GRCh37 Chromosome 12, 65563756: 65563756
34 LEMD3 NM_014319.4(LEMD3): c.750C> T (p.Val250=) single nucleotide variant Uncertain significance rs148964879 GRCh38 Chromosome 12, 65170346: 65170346
35 LEMD3 NM_014319.4(LEMD3): c.750C> T (p.Val250=) single nucleotide variant Uncertain significance rs148964879 GRCh37 Chromosome 12, 65564126: 65564126
36 LEMD3 NM_014319.4(LEMD3): c.1027G> A (p.Gly343Arg) single nucleotide variant Uncertain significance rs886049777 GRCh37 Chromosome 12, 65564403: 65564403
37 LEMD3 NM_014319.4(LEMD3): c.1027G> A (p.Gly343Arg) single nucleotide variant Uncertain significance rs886049777 GRCh38 Chromosome 12, 65170623: 65170623
38 LEMD3 NM_014319.4(LEMD3): c.1695+8A> G single nucleotide variant Likely benign rs6581621 GRCh38 Chromosome 12, 65218627: 65218627
39 LEMD3 NM_014319.4(LEMD3): c.1695+8A> G single nucleotide variant Likely benign rs6581621 GRCh37 Chromosome 12, 65612407: 65612407
40 LEMD3 NM_014319.4(LEMD3): c.2573-13T> G single nucleotide variant Uncertain significance rs766410078 GRCh38 Chromosome 12, 65246149: 65246149
41 LEMD3 NM_014319.4(LEMD3): c.2573-13T> G single nucleotide variant Uncertain significance rs766410078 GRCh37 Chromosome 12, 65639929: 65639929
42 LEMD3 NM_014319.4(LEMD3): c.*225A> G single nucleotide variant Uncertain significance rs139476203 GRCh37 Chromosome 12, 65640330: 65640330
43 LEMD3 NM_014319.4(LEMD3): c.*225A> G single nucleotide variant Uncertain significance rs139476203 GRCh38 Chromosome 12, 65246550: 65246550
44 LEMD3 NM_014319.4(LEMD3): c.*476C> T single nucleotide variant Likely benign rs144515474 GRCh37 Chromosome 12, 65640581: 65640581
45 LEMD3 NM_014319.4(LEMD3): c.*476C> T single nucleotide variant Likely benign rs144515474 GRCh38 Chromosome 12, 65246801: 65246801
46 LEMD3 NM_014319.4(LEMD3): c.*895T> C single nucleotide variant Likely benign rs182177872 GRCh37 Chromosome 12, 65641000: 65641000
47 LEMD3 NM_014319.4(LEMD3): c.*895T> C single nucleotide variant Likely benign rs182177872 GRCh38 Chromosome 12, 65247220: 65247220
48 LEMD3 NM_014319.4(LEMD3): c.*902G> A single nucleotide variant Likely benign rs145080926 GRCh37 Chromosome 12, 65641007: 65641007
49 LEMD3 NM_014319.4(LEMD3): c.*902G> A single nucleotide variant Likely benign rs145080926 GRCh38 Chromosome 12, 65247227: 65247227
50 LEMD3 NM_014319.4(LEMD3): c.*1635G> A single nucleotide variant Likely benign rs12304180 GRCh37 Chromosome 12, 65641740: 65641740

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 transforming growth factor beta receptor signaling pathway GO:0007179 9.4 SMAD1 SMAD2
2 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.37 LEMD3 SMAD2
3 SMAD protein signal transduction GO:0060395 9.32 SMAD1 SMAD2
4 ureteric bud development GO:0001657 9.26 SMAD1 SMAD2
5 embryonic pattern specification GO:0009880 9.16 SMAD1 SMAD2
6 primary miRNA processing GO:0031053 8.96 SMAD1 SMAD2
7 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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54 NINDS
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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