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PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
36 signs/symptoms
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Familial partial lipodystrophy, Dunnigan type

ISG15 LMNA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ISG15
(0.63)
LMNA



Citations in the biomedical literature:


Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ISG15
Familial partial lipodystrophy, Dunnigan type
LMNA



Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Familial partial lipodystrophy, Dunnigan type

Synonym(s):
- MSMD due to complete ISG15 deficiency

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

Classification (Orphanet):
- Rare genetic disease
- Rare immune 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: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
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:
No 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


Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

(no data available)