BOS
MCID: BSC001
MIFTS: 51

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 57 75 25 59 74 37 13 55 40
Dermatofibrosis Lenticularis Disseminata with Osteopoikilosis 57 53 25 74
Dermatofibrosis Lenticularis Disseminata 25 29 6 72
Osteopathia Condensans Disseminata 57 53 25 74
Dermatoosteopoikilosis 57 53 25 74
Bos 57 53 25 74
Dermatofibrosis, Disseminated, with Osteopoikilosis 57 25
Disseminated Dermatofibrosis with Osteopoikilosis 59 74
Dermatofibrosis, Disseminated with Osteopoikilosis 53
Osteopoikilosis with or Without Melorheostosis 57
Dermatofibrosis Disseminata Lenticularis 25
Buschke Ollendorff Syndrome 53
Osteopoikilosis, Isolated 72
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:



External Ids:

OMIM 57 166700
KEGG 37 H00452
MESH via Orphanet 45 C537415
ICD10 via Orphanet 34 Q78.8
UMLS via Orphanet 73 C0029455 C0265514 C1833699
UMLS 72 C0265514 C1833699

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

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), 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 : 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)

KEGG : 37
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 : 74 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 : 75 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:

(showing 226, show less)
# Related Disease Score Top Affiliating Genes
1 melorheostosis 32.5 SMAD2 LEMD3
2 osteopoikilosis 30.6 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 bronchiolitis obliterans 11.5
12 branchiootorenal syndrome 11.4
13 thrombocytopenic purpura, autoimmune 11.3
14 pulmonary embolism 11.3
15 pulmonary fibrosis, idiopathic 11.1
16 osteopetrosis, autosomal dominant 3 11.1
17 thrombotic thrombocytopenic purpura 11.1
18 stachybotrys chartarum 11.1
19 elastoma 10.7
20 papular elastorrhexis 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 10.4
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 fibromatosis 10.3
51 hypotonia 10.3
52 late-onset focal dermal elastosis 10.3
53 polycystic kidney disease 10.3
54 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.3
55 babesiosis 10.3
56 trypanosomiasis 10.2
57 severe combined immunodeficiency 10.2
58 hair whorl 10.2
59 lymphopenia 10.2
60 precocious puberty 10.2
61 insulin-like growth factor i 10.2
62 helix syndrome 10.2
63 echinococcosis 10.2
64 stomatitis 10.2
65 encephalopathy 10.2
66 schistosoma mansoni infection, susceptibility/ 10.1
67 rabies 10.1
68 schistosomiasis 10.1
69 pleuropneumonia 10.1
70 infertility 10.1
71 methane production 10.0
72 intestinal schistosomiasis 10.0
73 metabolic acidosis 10.0
74 tetanus 10.0
75 male infertility 10.0
76 genetic prion diseases 10.0
77 cytokine deficiency 10.0
78 argyria 10.0
79 leukocyte adhesion deficiency, type i 10.0
80 polykaryocytosis inducer 10.0
81 autism 10.0
82 cystinuria 10.0
83 allergic rhinitis 10.0
84 malaria 10.0
85 immunodeficiency, common variable, 10 10.0
86 chikungunya 10.0
87 squamous cell papilloma 10.0
88 cystic echinococcosis 10.0
89 cryptosporidiosis 10.0
90 squamous cell carcinoma 10.0
91 hemorrhagic disease 10.0
92 papilloma 10.0
93 dermatitis 10.0
94 bilirubin metabolic disorder 10.0
95 food allergy 10.0
96 pleomorphic adenoma 10.0
97 freemartinism 10.0
98 hemolytic anemia 10.0
99 adenoma 10.0
100 lung disease 10.0
101 measles 10.0
102 vasculitis 10.0
103 keratoconjunctivitis 10.0
104 sarcocystosis 10.0
105 lymphosarcoma 10.0
106 posttransplant acute limbic encephalitis 10.0
107 rapidly involuting congenital hemangioma 10.0
108 rare surgical neurologic disease 10.0
109 gastroesophageal reflux 9.8
110 van der woude syndrome 1 9.8
111 diabetes mellitus, noninsulin-dependent 9.8
112 hypertelorism 9.8
113 trichorhinophalangeal syndrome, type ii 9.8
114 treacher collins syndrome 1 9.8
115 proline-negative auxotroph of hamster, complementation of 9.8
116 triiodothyronine receptor auxiliary protein 9.8
117 down syndrome 9.8
118 varicose veins 9.8
119 anus, imperforate 9.8
120 lung cancer 9.8
121 immune deficiency disease 9.8
122 proteasome-associated autoinflammatory syndrome 1 9.8
123 laron syndrome 9.8
124 pulmonary alveolar microlithiasis 9.8
125 opitz gbbb syndrome, type i 9.8
126 meester-loeys syndrome 9.8
127 deafness, autosomal dominant 5 9.8
128 stroke, ischemic 9.8
129 leukemia, acute myeloid 9.8
130 yemenite deaf-blind hypopigmentation syndrome 9.8
131 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
132 factor xi deficiency 9.8
133 hyperoxaluria, primary, type iii 9.8
134 retinitis pigmentosa 58 9.8
135 dengue virus 9.8
136 leukemia, acute lymphoblastic 3 9.8
137 aspiration pneumonia 9.8
138 cryptogenic organizing pneumonia 9.8
139 foodborne botulism 9.8
140 brachyolmia 9.8
141 infective endocarditis 9.8
142 pain agnosia 9.8
143 scoliosis 9.8
144 umbilical hernia 9.8
145 pollen allergy 9.8
146 endometritis 9.8
147 sleeping sickness 9.8
148 cerebral artery occlusion 9.8
149 endocarditis 9.8
150 pneumoconiosis 9.8
151 anthracosis 9.8
152 lymphocytic leukemia 9.8
153 bacterial infectious disease 9.8
154 paragonimiasis 9.8
155 giardiasis 9.8
156 spastic hemiplegia 9.8
157 hemiplegia 9.8
158 ovarian disease 9.8
159 leech infestation 9.8
160 q fever 9.8
161 acute contagious conjunctivitis 9.8
162 pulmonary edema 9.8
163 cornelia de lange syndrome 9.8
164 visual epilepsy 9.8
165 nephrotic syndrome 9.8
166 leiomyoma 9.8
167 acute cystitis 9.8
168 cholestasis 9.8
169 azoospermia 9.8
170 hypothyroidism 9.8
171 cholera 9.8
172 vascular disease 9.8
173 calcinosis 9.8
174 epilepsy 9.8
175 viral hepatitis 9.8
176 leiomyosarcoma 9.8
177 placental choriocarcinoma 9.8
178 hepatitis b 9.8
179 leptospirosis 9.8
180 dyspepsia 9.8
181 parasitic protozoa infectious disease 9.8
182 primary hyperoxaluria 9.8
183 lipomatosis 9.8
184 skin papilloma 9.8
185 chronic wasting disease 9.8
186 choriocarcinoma 9.8
187 pseudohermaphroditism 9.8
188 anovulation 9.8
189 rhinitis 9.8
190 middle ear disease 9.8
191 pituitary gland disease 9.8
192 eye disease 9.8
193 hemoglobinuria 9.8
194 bronchitis 9.8
195 combined t cell and b cell immunodeficiency 9.8
196 inherited metabolic disorder 9.8
197 cerebrovascular disease 9.8
198 anthrax disease 9.8
199 peritonitis 9.8
200 eating disorder 9.8
201 myeloid leukemia 9.8
202 vascular dementia 9.8
203 fascioliasis 9.8
204 rem sleep behavior disorder 9.8
205 cleft lip 9.8
206 exophthalmos 9.8
207 tracheitis 9.8
208 toxoplasmosis 9.8
209 hypereosinophilic syndrome 9.8
210 hypoglycemia 9.8
211 aminoaciduria 9.8
212 dwarfism 9.8
213 mycobacterium chelonae 9.8
214 mycobacterium fortuitum 9.8
215 trypanosomiasis, human east-african 9.8
216 cerebral atrophy 9.8
217 cytomegalovirus infection 9.8
218 hypoxia 9.8
219 seizure disorder 9.8
220 cleft lip/palate 9.8
221 hematopoietic stem cell transplantation 9.8
222 renal dysplasia 9.8
223 microtia 9.8
224 polyploidy 9.8
225 overgrowth syndrome 9.8
226 autosomal recessive cutis laxa type i 9.2 SMAD2 ELN

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:

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

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

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:

(showing 129, show less)
# Title Authors PMID Year
1
Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis. 9 38 8 71
17087626 2007
2
Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis. 38 8 71
19438932 2009
3
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. 38 8 71
15489854 2004
4
Melorheostosis in a family with autosomal dominant osteopoikilosis: report of a third family. 8 71
12749062 2003
5
Melorheostosis in a patient with familial osteopoikilosis. 8 71
9295073 1997
6
Buschke-Ollendorff syndrome associated with elevated elastin production by affected skin fibroblasts in culture. 9 38 8
1629625 1992
7
The Buschke-Ollendorff syndrome presenting as familial elastic tissue naevi. 38 8
11298556 2001
8
Osteopoikilosis: report of a familial case. 38 8
7888140 1994
9
Clinical considerations in Buschke-Ollendorff syndrome. 38 8
2302824 1990
10
Buschke-Ollendorff syndrome--disseminated dermatofibrosis with osteopoikilosis. 38 8
3519011 1986
11
Biochemical and ultrastructural demonstration of elastin accumulation in the skin lesions of the Buschke-Ollendorff syndrome. 38 8
7205030 1981
12
Juvenile elastoma and osteopoikilosis (the Buschke--Ollendorff syndrome). 38 8
588450 1977
13
Buschke--Ollendorff syndrome (disseminated dermatofibrosis with osteopoikilosis). 38 8
843441 1977
14
Osteopathia condensans disseminata (osteopoikilosis); study of a family of 4 generations. 38 8
13670325 1959
15
Familial cutaneous collagenomas resulting from a novel mutation in LEMD3. 8
17223882 2007
16
Melorheostosis may originate as a type 2 segmental manifestation of osteopoikilosis. 8
14994228 2004
17
Melorheostosis in a family with autosomal dominant osteopoikilosis. 8
10069713 1999
18
Symmetry of bone lesions in osteopoikilosis. Report of 4 cases. 8
1950500 1991
19
Radiological case of the month. Osteopoikilosis: familial documentation. 8
7369206 1980
20
Familial cutaneous collagenoma: genetic studies on a family. 8
486326 1979
21
The connective tissue nevus-osteopoikilosis syndrome. 8
5048221 1972
22
Connective-tissue nevus. Dermatofibrosis lenticularis disseminata with osteopoikilosis. 8
5470949 1970
23
Osteopoikilosis associated with dermatofibrosis lenticularis disseminata. 8
5358111 1969
24
Familial cutaneous collagenoma. Report of cases. 8
5657391 1968
25
Osteopoikilosis--a clinical and genetic study. 8
6020164 1967
26
A STUDY OF OSTEOPOIKILOSIS. 8
14075878 1963
27
[Familial osteopoikilosis]. 8
14467538 1962
28
Melorheostosis and osteopoikilosis, with a review of the literature. 8
13901391 1962
29
Connective tissue nevi; familial occurrence and association with osteopoikilosis. 8
13831874 1960
30
Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family. 9 38
20083694 2010
31
Buschke-Ollendorff syndrome. 9 38
18313966 2008
32
MAN1, an integral protein of the inner nuclear membrane, binds Smad2 and Smad3 and antagonizes transforming growth factor-beta signaling. 9 38
15601644 2005
33
Familial localized connective tissue nevus of the scalp with alopecia (report of a very unusual case). 9 38
15096150 2004
34
Elastic nevus with normal expression of elastin and elastin-related proteins mRNAs. 9 38
10393461 1999
35
Regulation of elastin synthesis in pathological states. 9 38
8575269 1995
36
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series. 38
31129707 2019
37
Structural basis for receptor-regulated SMAD recognition by MAN1. 38
30321401 2018
38
Buschke-Ollendorff syndrome due to a novel LEMD3 mutation - an unusual case of alopecia. 38
29465813 2018
39
Papular elastorrhexis: clinical perspectives. 38
30464568 2018
40
Juvenile elastoma without germline mutations in LEMD3 gene: A case of Buschke-Ollendorff syndrome? 38
29023873 2017
41
Acquired elastoma in a subungual location. 38
29469722 2017
42
Melorheostosis: a Rare Sclerosing Bone Dysplasia. 38
28676968 2017
43
Elastoma: clinical and histopathological aspects of a rare disease. 38
28300889 2016
44
Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome. 38
27007781 2016
45
The Buschke-Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand. 38
27267960 2016
46
Buschke-Ollendorff syndrome. 38
27115577 2016
47
Buschke-Ollendorff syndrome: a novel case series and systematic review. 38
26708699 2016
48
RNA recognition motif of LEMD3 as a key player in the pathogenesis of Buschke-Ollendorff syndrome. 38
26711937 2016
49
Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis. 38
26135202 2015
50
Buschke-Ollendorff syndrome presenting as a painful nodule. 38
27051689 2015
51
[Buschke-Ollendorff syndrome in two generations imitated Calvé-Legg-Perthes disease]. 38
25612973 2015
52
[Buschke-Ollendorff syndrome]. 38
24857429 2014
53
[Buschke-Ollendorff syndrome]. 38
24378571 2014
54
Ossifying fibroma in Buschke-Ollendorff syndrome. 38
24917176 2014
55
Buschke-Ollendorff syndrome: sparing unnecessary investigations. 38
25184645 2014
56
A 5-year-old with connective tissue nevi: Buschke-Ollendorff syndrome. 38
24726545 2014
57
Buschke-Ollendorff syndrome accidentally diagnosed after a left ankle sprain. 38
24583550 2014
58
[Buschke-Ollendorff syndrome]. 38
24507217 2014
59
Traumatic Fracture in a patient of Osteopoikilosis with Review of Literature. 38
27298900 2013
60
An 8-year-old boy with multiple yellow papules and bony lesions. Buschke-Ollendorff syndrome. 38
23461687 2013
61
Connective tissue nevi in children: institutional experience and review. 38
22739355 2012
62
Buschke-Ollendorff syndrome and bilateral cutaneous syndactyly. 38
22150319 2012
63
Connective tissue nevi: an entity revisited. 38
22014540 2012
64
Buschke-Ollendorff syndrome associated with hypertrophic scar formation: a possible role for LEMD3 mutation. 38
21985280 2012
65
An unusual presentation of Buschke-Ollendorff syndrome. 38
21679804 2011
66
Papular elastorrhexis and Buschke-Ollendorff syndrome are different entities. 38
21679808 2011
67
Buschke-Ollendorff syndrome with striking phenotypic variation resulting from a novel c.2203C>T nonsense mutation in LEMD3. 38
20678097 2011
68
Buschke-Ollendorff syndrome in a three-generation family: influence of a novel LEMD3 mutation to tropoelastin expression. 38
20732851 2010
69
Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family. 38
20618940 2010
70
Osteopoikilosis. 38
20395928 2010
71
The heterozygous Lemd3 +/GT mouse is not a murine model for osteopoikilosis in humans. 38
19862465 2009
72
[Two cases of papular elastorrhexis]. 38
19061655 2008
73
Buschke-Ollendorff syndrome. 38
18986450 2008
74
Buschke-Ollendorff syndrome: a 32-month-old boy with elastomas and craniosynostosis. 38
18577041 2008
75
Buschke-Ollendorff syndrome: a manifestation of a heterozygous nonsense mutation in the LEMD3 gene. 38
18489034 2008
76
Papular elastorrhexis, a distinctive entity? 38
18360129 2008
77
A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis. 38
17622481 2007
78
A novel heterozygous splice-site mutation of LEM domain-containing 3 in a Japanese kindred with Buschke-Ollendorff syndrome. 38
17505164 2007
79
Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis. 38
16470551 2006
80
Juvenile elastoma: a forme fruste of the Buschke-Ollendorff syndrome? 38
16197425 2005
81
[A twelve-year-old teenager with bone pain and white papules]. 38
15964529 2005
82
[Buschke-Ollendorff syndrome: inactivating mutation of the LEMD3 gene]. 38
16142115 2005
83
Buschke-Ollendorff syndrome: three generations in a Japanese family. 38
15804302 2005
84
[Family Buschke-Ollendorff syndrome]. 38
16476335 2005
85
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. 38
14639409 2003
86
Buschke-Ollendorff syndrome. 38
12664025 2003
87
Papular elastorrhexis: a distinct variant of connective tissue nevi or an incomplete form of Buschke-Ollendorff syndrome? 38
12372083 2002
88
Papular elastorrhexis. report of five cases. 38
12218247 2002
89
Buschke-Ollendorff syndrome--differential diagnosis of disseminated connective tissue lesions. 38
11701413 2001
90
Buschke-Ollendorff syndrome: early, unilateral and pronounced involvement may be explained as a type 2 segmental manifestation. 38
11701396 2001
91
Morphometric analysis of elastic skin fibres from patients with: cutis laxa, anetoderma, pseudoxanthoma elasticum, and Buschke-Ollendorff and Williams-Beuren syndromes. 38
11730039 2001
92
[Segmental type 2 manifestation of autosome dominant skin diseases. Development of a new formal genetic concept]. 38
11382117 2001
93
[Buschke-Ollendorff syndrome. Connective tissue nevi in osteopoikilosis]. 38
11379244 2001
94
[Osteopoikilosis: report of 3 cases and review of the literature]. 38
10730402 2000
95
Buschke-Ollendorff syndrome in a grande multipara: a case report and short review of the literature. 38
9641521 1998
96
[Osteopoikilosis--skin and joint manifestations]. 38
7793159 1995
97
Familial syndromes with skin tumor markers. 38
7944188 1994
98
Buschke-Ollendorff syndrome, otosclerosis, and congenital spinal stenosis. 38
8170846 1994
99
Papular elastorrhexis: a variant of dermatofibrosis lenticularis disseminata (Buschke-Ollendorff syndrome)? 38
7873822 1994
100
Familial juvenile elastoma. 38
7702495 1994
101
[Buschke-Ollendorff syndrome]. 38
7793762 1994
102
Case report: osteopoikilosis and the Buschke-Ollendorff syndrome. 38
8391368 1993
103
[Dermatofibrosis lenticularis disseminata with osteopoikilosis. Buschke-Olldendorff syndrome]. 38
8320119 1993
104
What syndrome is this? Buschke-Ollendorff syndrome. 38
8493179 1993
105
[A case of osteopoikilosis combined with dermal changes and compression syndromes of peripheral nerves]. 38
1836704 1991
106
Buschke-Ollendorff syndrome of the scalp: histologic and ultrastructural findings. 38
2050847 1991
107
[Buschke-Ollendorff syndrome]. 38
2686245 1989
108
Connective tissue nevus and osteopoikilosis in the hand: the Buschke-Ollendorff syndrome. 38
2738341 1989
109
[Iconography of Buschke Ollendorff syndrome: x ray computed tomography and nuclear magnetic resonance of osteopoikilosis]. 38
2742300 1989
110
[Buschke-Ollendorff syndrome. 6 cases in one family]. 38
3415149 1988
111
Buschke-Ollendorff syndrome: report of a case. 38
3733487 1986
112
Disseminated nevus anelasticus. 38
3699960 1986
113
[Dermatofibromas, elastomas and deafness: a new case of the Buschke-Ollendorff syndrome]. 38
6724085 1984
114
[Buschke-Ollendorff syndrome--combination of dermatofibrosis lenticularis disseminata with osteopoikilosis]. 38
6484136 1984
115
[Dermatofibrosis lenticularis disseminata with osteopoikilosis (Buschke-Ollendorff syndrome)]. 38
6479404 1984
116
Elastic fibers in human skin: quantitation of elastic fibers by computerized digital image analyses and determination of elastin by radioimmunoassay of desmosine. 38
6353062 1983
117
Buschke-ollendorff syndrome. 38
6825465 1983
118
[Dermatofibrosis lenticularis disseminata with osteopoikilosis (Buschke-Ollendorff syndrome)]. 38
7156389 1982
119
Elastin in diseases. 38
7086187 1982
120
An elastic tissue defect in dermatofibrosis lenticularis disseminata. Buschke-Ollendorff syndrome. 38
7066092 1982
121
[Buschke-Ollendorff Syndrome (connective tissue nevus and osteopoikilosis). Study of 7 familial cases]. 38
7344431 1981
122
[Report of eight cases of osteopathia condensans disseminata--"spotted bone" (author's transl)]. 38
6451378 1980
123
[Juvenile elastoma and osteopoikilosis. Buschke-Ollendorff syndrome]. 38
753083 1978
124
[Disseminated lenticular dermatofibrosis with osteopoikilia. Buschke--Ollendorff syndrome]. 38
4138822 1974
125
[Disseminated lenticular dermatofibrosis with osteopecila (father and son). Buschke-Ollendorff syndrome]. 38
4466442 1974
126
[On skin variations in osteopoikilia (Buschke-Ollendorff syndrome)]. 38
5664733 1968
127
[Osteorhabdotosis, (A special form of osteopathia condensans disseminata described for the first time by N. Voorhoeve)]. 38
13892371 1962
128
Osteopathia condensans disseminata. 38
13323295 1956
129
Polyostotic fibrous dysplasia and osteopathia condensans disseminata. 38
20995764 1946

Variations for Buschke-Ollendorff Syndrome

ClinVar genetic disease variations for Buschke-Ollendorff Syndrome:

6 (showing 59, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
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_014319.5(LEMD3): c.2564G> A (p.Trp855Ter) single nucleotide variant Pathogenic rs267607216 12:65639711-65639711 12:65245931-65245931
5 LEMD3 NM_014319.5(LEMD3): c.1801G> T (p.Glu601Ter) single nucleotide variant Pathogenic 12:65632474-65632474 12:65238694-65238694
6 LEMD3 NM_014319.5(LEMD3): c.2369_2370AT[1] (p.Met791fs) short repeat Likely pathogenic 12:65637231-65637232 12:65243451-65243452
7 LEMD3 NM_014319.5(LEMD3): c.28C> T (p.Gln10Ter) single nucleotide variant Uncertain significance 12:65563404-65563404 12:65169624-65169624
8 LEMD3 NM_014319.5(LEMD3): c.*1295G> A single nucleotide variant Uncertain significance rs886049782 12:65641400-65641400 12:65247620-65247620
9 LEMD3 NM_014319.5(LEMD3): c.*1389G> T single nucleotide variant Uncertain significance rs886049784 12:65641494-65641494 12:65247714-65247714
10 LEMD3 NM_014319.5(LEMD3): c.*1481C> T single nucleotide variant Uncertain significance rs113095916 12:65641586-65641586 12:65247806-65247806
11 LEMD3 NM_014319.5(LEMD3): c.640G> T (p.Asp214Tyr) single nucleotide variant Uncertain significance rs774803333 12:65564016-65564016 12:65170236-65170236
12 LEMD3 NM_014319.5(LEMD3): c.1063C> T (p.Pro355Ser) single nucleotide variant Uncertain significance rs202161021 12:65564439-65564439 12:65170659-65170659
13 LEMD3 NM_014319.5(LEMD3): c.1627+12_1627+14del deletion Uncertain significance rs886049778 12:65609835-65609837 12:65216055-65216057
14 LEMD3 NM_014319.5(LEMD3): c.1705C> T (p.Pro569Ser) single nucleotide variant Uncertain significance rs374655981 12:65632291-65632291 12:65238511-65238511
15 LEMD3 NM_014319.5(LEMD3): c.1720A> G (p.Ile574Val) single nucleotide variant Uncertain significance rs374107839 12:65632306-65632306 12:65238526-65238526
16 LEMD3 NM_014319.5(LEMD3): c.1813A> G (p.Ile605Val) single nucleotide variant Uncertain significance rs886049779 12:65632486-65632486 12:65238706-65238706
17 LEMD3 NM_014319.5(LEMD3): c.*576A> G single nucleotide variant Uncertain significance rs527664684 12:65640681-65640681 12:65246901-65246901
18 LEMD3 NM_014319.5(LEMD3): c.*790G> C single nucleotide variant Uncertain significance rs886049780 12:65640895-65640895 12:65247115-65247115
19 LEMD3 NM_014319.5(LEMD3): c.2094T> G (p.His698Gln) single nucleotide variant Uncertain significance 12:65633986-65633986 12:65240206-65240206
20 LEMD3 NM_014319.5(LEMD3): c.282C> G (p.Val94=) single nucleotide variant Uncertain significance rs867412512 12:65563658-65563658 12:65169878-65169878
21 LEMD3 NM_014319.5(LEMD3): c.86G> C (p.Gly29Ala) single nucleotide variant Uncertain significance rs886049773 12:65563462-65563462 12:65169682-65169682
22 LEMD3 NM_014319.5(LEMD3): c.1154C> G (p.Ser385Cys) single nucleotide variant Uncertain significance rs372588607 12:65564530-65564530 12:65170750-65170750
23 LEMD3 NM_014319.5(LEMD3): c.*146A> G single nucleotide variant Uncertain significance rs746798464 12:65640251-65640251 12:65246471-65246471
24 LEMD3 NM_014319.5(LEMD3): c.*1141A> G single nucleotide variant Uncertain significance rs886049781 12:65641246-65641246 12:65247466-65247466
25 LEMD3 NM_014319.5(LEMD3): c.*1305T> G single nucleotide variant Uncertain significance rs886049783 12:65641410-65641410 12:65247630-65247630
26 LEMD3 NM_014319.5(LEMD3): c.349A> G (p.Ser117Gly) single nucleotide variant Uncertain significance rs886049774 12:65563725-65563725 12:65169945-65169945
27 LEMD3 NM_014319.5(LEMD3): c.380C> T (p.Ala127Val) single nucleotide variant Uncertain significance rs886049775 12:65563756-65563756 12:65169976-65169976
28 LEMD3 NM_014319.5(LEMD3): c.750C> T (p.Val250=) single nucleotide variant Uncertain significance rs148964879 12:65564126-65564126 12:65170346-65170346
29 LEMD3 NM_014319.5(LEMD3): c.1027G> A (p.Gly343Arg) single nucleotide variant Uncertain significance rs886049777 12:65564403-65564403 12:65170623-65170623
30 LEMD3 NM_014319.5(LEMD3): c.2573-13T> G single nucleotide variant Uncertain significance rs766410078 12:65639929-65639929 12:65246149-65246149
31 LEMD3 NM_014319.5(LEMD3): c.*225A> G single nucleotide variant Uncertain significance rs139476203 12:65640330-65640330 12:65246550-65246550
32 LEMD3 NM_014319.5(LEMD3): c.*1759G> T single nucleotide variant Uncertain significance rs886049785 12:65641864-65641864 12:65248084-65248084
33 LEMD3 NM_014319.5(LEMD3): c.-6G> A single nucleotide variant Uncertain significance rs747864180 12:65563371-65563371 12:65169591-65169591
34 LEMD3 NM_014319.5(LEMD3): c.345A> G (p.Pro115=) single nucleotide variant Uncertain significance rs530591432 12:65563721-65563721 12:65169941-65169941
35 LEMD3 NM_014319.5(LEMD3): c.618G> A (p.Glu206=) single nucleotide variant Uncertain significance rs770408327 12:65563994-65563994 12:65170214-65170214
36 LEMD3 NM_014319.5(LEMD3): c.673G> C (p.Glu225Gln) single nucleotide variant Uncertain significance rs886049776 12:65564049-65564049 12:65170269-65170269
37 LEMD3 NM_014319.5(LEMD3): c.882C> T (p.Leu294=) single nucleotide variant Uncertain significance rs764393737 12:65564258-65564258 12:65170478-65170478
38 LEMD3 NM_014319.5(LEMD3): c.1075G> A (p.Val359Ile) single nucleotide variant Uncertain significance rs376822761 12:65564451-65564451 12:65170671-65170671
39 LEMD3 NM_014319.5(LEMD3): c.1523-12C> T single nucleotide variant Likely benign rs11175678 12:65604694-65604694 12:65210914-65210914
40 LEMD3 NM_014319.5(LEMD3): c.2658G> A (p.Lys886=) single nucleotide variant Likely benign rs17101179 12:65640027-65640027 12:65246247-65246247
41 LEMD3 NM_014319.5(LEMD3): c.*884A> G single nucleotide variant Likely benign rs117029005 12:65640989-65640989 12:65247209-65247209
42 LEMD3 NM_014319.5(LEMD3): c.*1156G> A single nucleotide variant Likely benign rs11175698 12:65641261-65641261 12:65247481-65247481
43 LEMD3 NM_014319.5(LEMD3): c.378C> T (p.Ser126=) single nucleotide variant Likely benign rs61736593 12:65563754-65563754 12:65169974-65169974
44 LEMD3 NM_014319.5(LEMD3): c.*476C> T single nucleotide variant Likely benign rs144515474 12:65640581-65640581 12:65246801-65246801
45 LEMD3 NM_014319.5(LEMD3): c.*895T> C single nucleotide variant Likely benign rs182177872 12:65641000-65641000 12:65247220-65247220
46 LEMD3 NM_014319.5(LEMD3): c.*902G> A single nucleotide variant Likely benign rs145080926 12:65641007-65641007 12:65247227-65247227
47 LEMD3 NM_014319.5(LEMD3): c.*1635G> A single nucleotide variant Likely benign rs12304180 12:65641740-65641740 12:65247960-65247960
48 LEMD3 NM_014319.5(LEMD3): c.1695+8A> G single nucleotide variant Likely benign rs6581621 12:65612407-65612407 12:65218627-65218627
49 LEMD3 NM_014319.5(LEMD3): c.*1951C> T single nucleotide variant Likely benign rs11175699 12:65642056-65642056 12:65248276-65248276
50 LEMD3 NM_014319.5(LEMD3): c.*688T> C single nucleotide variant Likely benign rs188087693 12:65640793-65640793 12:65247013-65247013
51 LEMD3 NM_014319.5(LEMD3): c.948C> T (p.Leu316=) single nucleotide variant Likely benign rs183253527 12:65564324-65564324 12:65170544-65170544
52 LEMD3 NM_014319.5(LEMD3): c.907G> T (p.Gly303Cys) single nucleotide variant Likely benign rs35221558 12:65564283-65564283 12:65170503-65170503
53 LEMD3 NM_014319.5(LEMD3): c.*915G> T single nucleotide variant Likely benign rs117013092 12:65641020-65641020 12:65247240-65247240
54 LEMD3 NM_014319.5(LEMD3): c.*1901G> A single nucleotide variant Likely benign rs12071 12:65642006-65642006 12:65248226-65248226
55 LEMD3 NM_014319.5(LEMD3): c.*655C> T single nucleotide variant Likely benign rs12302249 12:65640760-65640760 12:65246980-65246980
56 LEMD3 NM_014319.5(LEMD3): c.1628-11A> C single nucleotide variant Likely benign rs6581620 12:65612321-65612321 12:65218541-65218541
57 LEMD3 NM_014319.5(LEMD3): c.1560+10C> T single nucleotide variant Benign/Likely benign rs144815611 12:65604753-65604753 12:65210973-65210973
58 LEMD3 NM_014319.5(LEMD3): c.336C> T (p.Ala112=) single nucleotide variant Benign/Likely benign rs61736594 12:65563712-65563712 12:65169932-65169932
59 LEMD3 NM_014319.5(LEMD3): c.*1880C> T single nucleotide variant Benign rs2888 12:65641985-65641985 12:65248205-65248205

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:

(showing 3, show less)
# 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:

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

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

(showing 4, show less)
# 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MedGen
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45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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