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Buschke-Ollendorff syndrome
1 OMIM reference -
1 associated gene
33 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
Familial partial lipodystrophy, Köbberling type
1 OMIM reference -
1 associated gene
15 signs/symptoms
Buschke-Ollendorff syndrome
Familial partial lipodystrophy, Köbberling type

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
LEMD3
Familial partial lipodystrophy, Köbberling type
LMNA



Buschke-Ollendorff syndrome
Familial partial lipodystrophy, Köbberling type

Synonym(s):
- Disseminated dermatofibrosis with osteopoikilosis
Synonym(s):
- FPLD1
- Familial partial lipodystrophy type 1
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C537415
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Autosomal dominant inheritance
- Diabetes mellitus
- Insulin-dependent / type 1 diabetes

Buschke-Ollendorff syndrome
Familial partial lipodystrophy, Köbberling type

Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Anomalies of bones / skeletal anomalies
- Bone pain
- 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
- 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 fat distribution / lipodystrophy
- Chronic arterial hypertension
- Hyperinsulinism / hyperinsulinemia
- Insulin resistance
- Lipoatrophy

Frequent
- Abnormal / polycystic ovaries
- Acanthosis nigricans
- Hepatomegaly / liver enlargement (excluding storage disease)
- Liver / hepatic steatosis
- Xanthomas / lipomas

Occasional
- Angor pectoris / myocardial infarction
- Pancreatitis