Autosomal recessive msmd due to partial ifngammar2 deficiency
An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia.
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Diagnosis please.
Dr. Syam Sundar Patro0 Like10 Answers NCDs like heart disease, stroke, cancer, diabetes & chronic lung disease continues to be a major public health challenge in India. Chronic diseases like heart disease & cancer not only account for 63% of deaths in India but are expected to cost the country $3.55 trillion in lost economic output between 2012 and 2030. What is the major challenge for Chronic disease management in India?
Doc Insights5 Likes9 Answers- Login to View the image
33 YEAR FEMALE C/O LT. KNEE PAIN & MILD SWELLING from 2 3 months
Wahib Zaidi0 Like5 Answers - Login to View the image
60 Y male having LRTI symptoms, Underwent CT CHEST , now he is recovered with the Standard Rx. But I PICKED CIRRHOTIC LIVER FINDING on CT CHEST meanwhile Patient is ASYMPTOMATIC No C/O CLD yet. I advised to do USG ABDOMEN to check for Findings of DECOMPENSATION. & LFT also appears normal On USG adomen** 1) INCREASED ECHOGENICITY of Liver 2) DILATED PORTAL VEIN I think Radiologist interpretated it as FATTY LIVER GRADE 2, but Dilated portal Vein + increased Echogenicity should be S/O CLD Life style He is NON ALCOHOLIC , NON SMOKER PT INR , HEP B , HEP C Reports are awaited.
Wahib Zaidi1 Like5 Answers - Login to View the image
F.29yrs. Palpitation & DOE 2yrs.
Dr. Syam Sundar Patro0 Like4 Answers