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1 OMIM reference -
1 associated gene
36 signs/symptoms
PROTEIN INTERACTIONS: 1
4 OMIM references -
1 associated gene
6 signs/symptoms
Familial partial lipodystrophy, Dunnigan type
Chronic intestinal pseudoobstruction

LMNA FLNA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LMNA
(0.73)
FLNA



Citations in the biomedical literature:


Familial partial lipodystrophy, Dunnigan type
LMNA
Chronic intestinal pseudoobstruction
FLNA



Familial partial lipodystrophy, Dunnigan type
Chronic intestinal pseudoobstruction

Synonym(s):
- Dunnigan syndrome
- FPLD2
- Familial partial lipodystrophy type 2

Synonym(s):
- CIPO

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
(no data available)

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the digestive system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

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

Familial partial lipodystrophy, Dunnigan type
Chronic intestinal pseudoobstruction

Very frequent
- Abnormal fat distribution / lipodystrophy
- Autosomal dominant inheritance
- Diabetes mellitus
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Insulin resistance
- Lipoatrophy
- Muscle hypertrophy
- Round face
- Skin hypoplasia / aplasia / atrophy
- Xanthomas / lipomas

Frequent
- Anomalies of skin, subcutaneous tissue and mucosae
- Arterial atheroma / precocious atherosclerosis / arteriosclerosis
- Nails anomalies
- Precocious menopause / secondary amenorrhea
- Premature eruption of teeth / natal teeth
- Thin skin

Occasional
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Abnormal / polycystic ovaries
- Acanthosis nigricans
- Angor pectoris / myocardial infarction
- Anomalies of complement
- Cardiomyopathy / hypertrophic / dilated
- Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue
- Cranial nerves palsy
- Heart / cardiac failure
- Hirsutism / hypertrichosis / Increased body hair
- Liver / hepatic steatosis
- Maternal hypertension / eclampsia / preeclampsia / gravidic toxemia
- Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea
- Myalgia / muscular pain
- Myopathy
- Pancreatitis
- Renal glomerular defect / glomerulopathy
- Splenomegaly
- Storage liver disease


Very frequent
- Intestinal / colonic anomaly

Frequent
- Gastric / pyloric stenosis
- Intestinal / gut / bowel malrotation
- Structural anomalies of the nervous system

Occasional
- Patent ductus arteriosus
- Platelets shape anomalies