ODCs

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Buschke-Ollendorff syndrome

1 OMIM reference -
1 associated gene
33 signs/symptoms

PROTEIN INTERACTIONS: 1

Dilated cardiomyopathy - hypergonadotropic hypogonadism

1 OMIM reference -
1 associated gene
8 signs/symptoms

Buschke-Ollendorff syndrome

Dilated cardiomyopathy - hypergonadotropic hypogonadism

LEMD3

(UniProt - OMIM)

LMNA

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LEMD3	(0.49)	LMNA

Citations in the biomedical literature:

Buschke-Ollendorff syndrome		Dilated cardiomyopathy - hypergonadotropic hypogonadism
	Synonym(s): - Disseminated dermatofibrosis with osteopoikilosis		Synonym(s): - Cardiogenital syndrome - Malouf syndrome - Najjar syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare cardiac disease - Rare endocrine disease - Rare genetic disease - Rare infertility

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C537415		External references: 1 OMIM reference - No MeSH references

Buschke-Ollendorff syndrome		Dilated cardiomyopathy - hypergonadotropic hypogonadism
	Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Anomalies of bones / skeletal anomalies - Autosomal dominant inheritance - Bone pain - Diabetes mellitus - Diffuse / generalised skin hypopigmentation / cutaneous albinism - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epiphyseal anomaly - Follicular / erythematous / edematous papules / milium - Hearing loss / hypoacusia / deafness - Hyperostosis - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Metaphyseal anomaly - Nasal congestion / sinusitis / rhinitis / rhinorrhea - Osteosclerosis / osteopetrosis / bone condensation - Sarcoma - Short stature / dwarfism / nanism - Visual loss / blindness / amblyopia Frequent - Mediastinal / hilar adenopathies - Strabismus / squint Occasional - Abnormal scarring / cheloids / hypertrophic scars - Arthritis / synovitis / synovial proliferation - Articular / joint pain / arthralgia - Contractures / cramps / trismus / tetania / claudication / opisthotonos - Diaphyseal anomaly - Insulin-dependent / type 1 diabetes - Lateral cleft lip / gingival cleft / paramedian nasal cleft - Mutiple fractures / bone fragility - Myalgia / muscular pain - Palmoplantar hyperkeratosis / keratoderma - Pigmented naevi / naevus pigmentosus / lentigo - Subcutaneous nodules / lipomas / tumefaction / swelling		Very frequent - Abnormal / polycystic ovaries - Autosomal recessive inheritance - Broad nose / nasal bridge - Cardiomyopathy / hypertrophic / dilated - Decreased body hair / axillar / pubic hairlessness - Late puberty / hypogonadism / hypogenitalism - Precocious puberty - Ptosis