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5 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
36 signs/symptoms
Familial hemophagocytic lymphohistiocytosis
Familial partial lipodystrophy, Dunnigan type

PRF1 LMNA
STX11
STXBP2
UNC13D


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
UNC13D
(0.63)
LMNA



Citations in the biomedical literature:


Familial hemophagocytic lymphohistiocytosis
PRF1 STX11 STXBP2 UNC13D
Familial partial lipodystrophy, Dunnigan type
LMNA



Familial hemophagocytic lymphohistiocytosis
Familial partial lipodystrophy, Dunnigan type

Synonym(s):
- Familial HLH

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

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

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

Familial partial lipodystrophy, Dunnigan type

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


Familial hemophagocytic lymphohistiocytosis

(no data available)