OrphaChat — a Rare Disease Podcast
Today: #49 in Health & Fitness, Brazil on our combined chart.
Chart positions today · United States
Not on the United States charts we track today.
Not on the United Kingdom charts we track today.
Not on the Canada charts we track today.
Not on the Australia charts we track today.
Not on the Germany charts we track today.
Not on the Mexico charts we track today.
Not on the New Zealand charts we track today.
Not on the Ireland charts we track today.
Not on the India charts we track today.
Not on the Japan charts we track today.
Not on the Philippines charts we track today.
Not on the South Africa charts we track today.
If you like OrphaChat — a Rare Disease Podcast, try…
Ranking history · United States
Latest episodes
-
Cone-Rod Dystrophy
March 18, 2026 · 21 minThese comprehensive sources explore the molecular landscape, historical development, and clinical management of inherited retinal diseases, focusing specifically on Orphanet 1872 Cone-Rod Dystrophy (CRD). They detail the pathophysiology of…
-
46,XX Ovotesticular Difference of Sex Development
March 17, 2026 · 22 minThese sources provide a comprehensive overview of Differences of Sex Development (DSD), focusing on the clinical, genetic, and psychosocial management of these rare conditions. The literature describes specific variations such as 46,XX…
-
Diffuse Palmoplantar Keratoderma, Bothnian Type
March 16, 2026 · 20 minThese sources provide a comprehensive analysis of palmoplantar keratoderma (PPK) and palmar hyperhidrosis, focusing on their genetic origins, clinical manifestations, and modern therapeutic interventions. Research highlights how mutations…
-
Gitelman Syndrome
March 15, 2026 · 19 minThese sources provide a comprehensive clinical overview of Bartter and Gitelman syndromes, which are rare genetic disorders that disrupt the kidneys' ability to reabsorb salt and essential minerals. They describe how mutations in genes…
-
Oculocutaneous Albinism Type 1
March 14, 2026 · 18 minThese scientific records detail the genetic foundations and clinical presentations of albinism and foveal hypoplasia, focusing on how specific mutations disrupt ocular and systemic health. Oculocutaneous Albinism Type 1 (OCA1) is examined…
Show 7 more episodesShow fewer episodes
-
Leber Congenital Amaurosis
March 12, 2026 · 19 minThese sources provide a comprehensive look at inherited retinal diseases (IRDs), specifically focusing on Leber congenital amaurosis (LCA) and its various genetic triggers. The texts detail the clinical phenotypes, inheritance patterns…
-
Pseudoxanthoma Elasticum
March 11, 2026 · 24 minThese sources provide a comprehensive overview of Pseudoxanthoma Elasticum (PXE), a rare genetic disorder defined by the progressive mineralisation of elastic connective tissues. The condition is primarily driven by mutations in the ABCC6…
-
Isolated Radial Hemimelia
March 10, 2026 · 24 minThese sources explore congenital limb differences, specifically conditions like symbrachydactyly, radial longitudinal deficiency, and hemimelia. They provide medical definitions of these skeletal anomalies, explaining how they typically…
-
Oculocutaneous Albinism Type 2
March 9, 2026 · 20 minThe provided sources examine oculocutaneous albinism (OCA), a genetic condition primarily caused by mutations in the OCA2 gene that disrupt melanin production. Research from Southern Africa highlights the epidemiological and psychosocial…
-
Meckel-Gruber Syndrome
March 8, 2026 · 21 minThese sources provide a comprehensive examination of Meckel-Gruber syndrome (MKS), a rare and fatal autosomal recessive genetic disorder categorized as a ciliopathy. The collected research highlights how defects in the primary cilium—a…
-
3-Methylcrotonyl-CoA Carboxylase Deficiency
March 7, 2026 · 19 min3-Methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited metabolic disorder caused by mutations in the MCCC1 or MCCC2 genes, which prevent the body from properly breaking down the amino acid leucine. This autosomal…
-
Autoimmune Pulmonary Alveolar Proteinosis
March 6, 2026 · 25 minThese documents examine autoimmune pulmonary alveolar proteinosis (aPAP), a rare respiratory disorder where a surfactant buildup in the lungs obstructs oxygen absorption. This condition is primarily driven by autoantibodies that neutralise…

Australia
Brazil
Canada
Germany
India
Ireland
Japan
Mexico
New Zealand
Philippines
South Africa
United Kingdom