Autosomal semi-dominant severe lipodystrophic laminopathy




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Total: 0 (papers)

  


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 49

HPO ID Term Frequency
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000418 Narrow nasal ridge Very frequent (99-80%)
HP:0000819 Diabetes mellitus Very frequent (99-80%)
HP:0000855 Insulin resistance Very frequent (99-80%)
HP:0000991 Xanthomatosis Very frequent (99-80%)
HP:0002155 Hypertriglyceridemia Very frequent (99-80%)
HP:0002216 Premature graying of hair Very frequent (99-80%)
HP:0002240 Hepatomegaly Very frequent (99-80%)
HP:0003712 Skeletal muscle hypertrophy Very frequent (99-80%)
HP:0003717 Minimal subcutaneous fat Very frequent (99-80%)
HP:0003758 Reduced subcutaneous adipose tissue Very frequent (99-80%)
HP:0005328 Progeroid facial appearance Very frequent (99-80%)
HP:0008065 Aplasia/Hypoplasia of the skin Very frequent (99-80%)
HP:0009125 Lipodystrophy Very frequent (99-80%)
HP:0100578 Lipoatrophy Very frequent (99-80%)
HP:0000147 Polycystic ovaries Frequent (79-30%)
HP:0000287 Increased facial adipose tissue Frequent (79-30%)
HP:0000311 Round face Frequent (79-30%)
HP:0000468 Increased adipose tissue around the neck Frequent (79-30%)
HP:0000869 Secondary amenorrhea Frequent (79-30%)
HP:0000956 Acanthosis nigricans Frequent (79-30%)
HP:0000963 Thin skin Frequent (79-30%)
HP:0001397 Hepatic steatosis Frequent (79-30%)
HP:0001597 Abnormality of the nail Frequent (79-30%)
HP:0001870 Acroosteolysis of distal phalanges (feet) Frequent (79-30%)
HP:0002621 Atherosclerosis Frequent (79-30%)
HP:0003233 Decreased HDL cholesterol concentration Frequent (79-30%)
HP:0003292 Decreased serum leptin Frequent (79-30%)
HP:0003635 Loss of subcutaneous adipose tissue in limbs Frequent (79-30%)
HP:0004416 Precocious atherosclerosis Frequent (79-30%)
HP:0004943 Accelerated atherosclerosis Frequent (79-30%)
HP:0006288 Advanced eruption of teeth Frequent (79-30%)
HP:0008968 Muscle hypertrophy of the lower extremities Frequent (79-30%)
HP:0008993 Increased intraabdominal fat Frequent (79-30%)
HP:0009771 Osteolytic defects of the phalanges of the hand Frequent (79-30%)
HP:0030685 Decreased adiponectin level Frequent (79-30%)
HP:0040266 Proximal upper limb muscle hypertrophy Frequent (79-30%)
HP:0001635 Congestive heart failure Occasional (29-5%)
HP:0001639 Hypertrophic cardiomyopathy Occasional (29-5%)
HP:0001677 Coronary artery atherosclerosis Occasional (29-5%)
HP:0001733 Pancreatitis Occasional (29-5%)
HP:0001744 Splenomegaly Occasional (29-5%)
HP:0002230 Generalized hirsutism Occasional (29-5%)
HP:0003198 Myopathy Occasional (29-5%)
HP:0003326 Myalgia Occasional (29-5%)
HP:0005115 Supraventricular arrhythmia Occasional (29-5%)
HP:0005150 Abnormal atrioventricular conduction Occasional (29-5%)
HP:0100607 Dysmenorrhea Occasional (29-5%)
HP:0004308 Ventricular arrhythmia Very rare (4-1%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
LMNA lamin A/C 4000