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in A-Z Disease List for NEETPG

Addisons Disease primary adrenocortical deficiency

Addisonian Anemia pernicious anemia (antibodies to intrinsic factor or parietal cells IF Vit B12
megaloblastic anemia)

Albrights Syndrome polyostotic fibrous dysplasia, precocious puberty, caf au lait spots, short stature,
young girls
Alports Syndrome hereditary nephritis with nerve deafness
Alzheimers progressive dementia
Argyll-Robertson Pupil loss of light reflex constriction (contralateral or bilateral)
Prostitutes Eye - accommodates but does not react
Pathognomonic for 3Syphilis
Arnold-Chiari Malformation cerebellar tonsil herniation
Barretts columnar metaplasia of lower esophagus ( risk of adenocarcinoma)
Bartters Syndrome hyperreninemia
Beckers Muscular Dystrophy similar to Duchenne, but less severe (deficiency in dystrophin protein)
Bells Palsy CNVII palsy (entire face; recall that UMN lesion only affects lower face)
Bergers Disease IgA nephropathy
Bernard-Soulier Disease defect in platelet adhesion (abnormally large platelets & lack of platelet-surface
glycoprotein)
Berry Aneurysm circle of Willis (subarachnoid bleed)
often associated with ADPKD
Bowens Disease carcinoma in situ on shaft of penis ( risk of visceral ca)
Briquets Syndrome somatization disorder
psychological: multiple physical complaints without physical pathology
Brocas Aphasia Motor Aphasia intact comprehension
Brown-Sequard hemisection of cord (contralateral loss of pain & temp / ipsilateral loss of fine
touch, UMN)
Brutons Disease X-linked agammaglobinemia
Budd-Chiari post-hepatic venous thrombosis
Buergers Disease acute inflammation of small, medium arteries painful ischemia gangrene
Burkitts Lymphoma small noncleaved cell lymphoma EBV
8:14 translocation
Caisson Disease gas emboli
Chagas Disease Trypansoma infection sleeping disease, cardiomegaly with apical atrophy, achlasia
Chediak-Higashi Disease Phagocyte Deficiency: neutropenia, albinism, cranial & peripheral neuropathy
repeated infections
Conns Syndrome primary aldosteronism
Coris Disease glycogen storage disease (debranching enzyme deficiency)
Creutzfeldt-Jakob prion infection cerebellar & cerebral degeneration
Crigler-Najjar Syndrome congenital hyperbilirubinemia (unconjugated)
glucuronyl transferase deficiency
Crohns IBD; ileocecum, transmural, skip lesions, lymphocytic infiltrate, granulomas
(contrast to UC: limited to colon, mucosa & submucosa, crypt
abscesses, pseudopolyps, colon cancer risk)
Curlings Ulcer acute gastric ulcer associated with severe burns
Cushings Disease: hypercorticism 2 to ACTH from pituitary (basophilic adenoma)
Syndrome: hypercorticism of all other causes (1 adrenal or ectopic)
Cushings Ulcer acute gastric ulcer associated with CNS trauma
 www.Qworld.co.in A-Z Disease List for NEETPG

de Quervains Thyroiditis self-limiting focal destruction (subacute thyroiditis)

DiGeorges Syndrome thymic hypoplasia T-cell deficiency
hypoparathyroidism
Downs Syndrome trisomy 21 or translocation
Dresslers Syndrome Post-MI Fibrinous Pericarditis autoimmune
Dubin-Johnson Syndrome congenital hyperbilirubinemia (conjugated)
striking brown-to-black discoloration of the liver (centilobular portion)
Duchenne Muscular Dystrophy deficiency of dystrophin protein MD X-linked recessive
Edwards Syndrome trisomy 18
rocker-bottom feet, low ears, heart disease
Ehlers-Danlos defective collagen
Eisenmengers Complex late cyanotic shunt (RL) pulmonary HTN & RVH 2 to long-standing VSD, ASD, or PDA
Erb-Duchenne Palsy trauma to superior trunk of brachial plexus Waiters Tip
Ewing Sarcoma undifferentiated round cell tumor of bone
Eyrthroplasia of Queyrat carcinoma in situ on glans penis
Fanconis Syndrome impaired proximal tubular reabsorption 2 to lead poisoning or Tetracycline
(glycosuria, hyperphosphaturia, aminoaciduria, systemic acidosis)
Feltys Syndrome rheumatoid arthritis, neutropenia, splenomegaly
Gardners Syndrome adenomatous polyps of colon plus osteomas & soft tissue tumors
Gauchers Disease Lysosomal Storage Disease glucocerebrosidase deficiency

hepatosplenomegaly, femoral head & long bone erosion, anemia

Gilberts Syndrome benign congenital hyperbilirubinemia (unconjugated)
Glanzmann's Thrombasthenia defective glycoproteins on platelets
Goodpastures autoimmune: abs to glomerular & alveolar basement membranes
Graves Disease autoimmune hyperthyroidism (TSI)
Guillain-Barre idiopathic polyneuritis (ascending muscle weakness & paralysis; usually self-
limiting)
Hamman-Rich Syndrome idiopathic pulmonary fibrosis
Hand-Schuller-Christian chronic progressive histiocytosis
Hashimotos Thyroiditis autoimmune hypothyroidism
Hashitoxicosis initial hyperthyroidism in Hashimotos Thyroiditis that precedes
hypothyroidism
Henoch-Schonlein purpura hypersensivity vasculitis
hemmorhagic urticaria (with fever, arthralgias, GI & renal involvement)
associated with upper respiratory infections
Hirschprungs Disease aganglionic megacolon
Horners Syndrome ptosis, miosis, anhidrosis (lesion of cervical sympathetic nerves often 2 to a
pancoaset tumour)
Huntingtons progressive degeneration of caudate nucleus, putamen & frontal cortex; AD
Jacksonian Seizures epileptic events originating in the primary motor cortex (area 4)
Jobs Syndrome immune deficiency: neutrophils fail to respond to chemotactic stimuli
Kaposi Sarcoma malignant vascular tumor (HHV8 in homosexual men)
Kartageners Syndrome immotile cilia 2 to defective dynein arms infection, situs inversus, sterility
Kawasaki Disease mucocutaneous lymph node syndrome (lips, oral mucosa)
Klinefelters Syndrome 47, XXY
 www.Qworld.co.in A-Z Disease List for NEETPG

Kluver-Bucy bilateral lesions of amygdala (hypersexuality; oral behavior)

Krukenberg Tumor adenocarcinoma with signet-ring cells (typically originating from the stomach)
metastases to the ovaries
Laennecs Cirrhosis alcoholic cirrhosis
Lesch-Nyhan HGPRT deficiency
gout, retardation, self-mutilation
Letterer-Siwe acute disseminated Langerhans cell histiocytosis
Libman-Sacks endocarditis with small vegetations on valve leaflets
associated with SLE
Lou Gehrigs Amyotrophic Lateral Sclerosis degeneration of upper & lower motor neurons
Mallory-Weis Syndrome bleeding from esophagogastric lacerations 2 to wretching (alcoholics)
Marfans connective tissue defect
McArdles Disease glycogen storage disease (muscle phosphorylase deficiency)
Meckels Diverticulum rule of 2s: 2 inches long, 2 feet from the ileocecum, in 2% of the
population
embryonic duct origin; may contain ectopic tissue (gastric, pancreatic, etc.)
Meigs Syndrome Triad: ovarian fibroma, ascites, hydrothorax
Menetriers Disease giant hypertrophic gastritis (enlarged rugae; plasma protein loss)
Monckebergs Arteriosclerosis calcification of the media (usually radial & ulnar aa.)
Munchausen Syndrome factitious disorder (consciously creates symptoms, but doesnt
know why)
Nelsons Syndrome 1 Adrenal Cushings surgical removal of adrenals loss of negative feedback to
pituitary Pituitary Adenoma
Niemann-Pick Lysosomal Storage Disease sphingomyelinase deficiency
foamy histiocytes
Osler-Weber-Rendu Syndrome Hereditary Hemorrhagic Telangiectasia
Pagets Disease abnormal bone architecture (thickened, numerous fractures pain)
Pancoast Tumor bronchogenic tumor with superior sulcus involvement Horners Syndrome
Parkinsons dopamine depletion in nigrostriatal tracts
Peutz-Jeghers Syndrome melanin pigmentation of lips, mouth, hand, genitalia plus hamartomatous polyps of
small intestine
Peyronies Disease subcutaneous fibrosis of dorsum of penis
Picks Disease progressive dementia similar to Alzheimers
Plummers Syndrome hyperthyroidism, nodular goiter, absence of eye signs (Plummers
= Graves - eye signs)
Plummer-Vinson esophageal webs & iron-deficiency anemia, SCCA of esophagus
Pompes Disease glycogen storage disease cardiomegaly
Potts Disease tuberculous osteomyelitis of the vertebrae
Potters Complex renal agenesis oligohydramnios hypoplastic lungs, defects in extremities
Raynauds Disease: recurrent vasospasm in extremities
Phenomenon: 2 to underlying disease (SLE or scleroderma)
Reiters Syndrome urethritis, conjunctivitis, arthritis non-infectious (but often follows infections),
HLA-B27, polyarticular
Reyes Syndrome microvesicular fatty liver change & encephalopathy
2 to aspirin ingestion in children following viral illness
Riedels Thyroiditis idiopathic fibrous replacement of thyroid
 www.Qworld.co.in A-Z Disease List for NEETPG

Rotor Syndrome congenital hyperbilirubinemia (conjugated)

similar to Dubin-Johnson, but no discoloration of the liver
Sezary Syndrome leukemic form of cutaneous T-cell lymphoma (mycosis fungoides)
Shavers Disease aluminum inhalation lung fibrosis
Sheehans Syndrome postpartum pituitary necrosis
Shy-Drager parkinsonism with autonomic dysfunction & orthostatic hypotension
Simmonds Disease pituitary cachexia
Sipples Syndrome MEN type IIa (pheochromocytoma, thyroid medulla, parathyroid)
Sjogrens Syndrome triad: dry eyes, dry mouth, arthritis risk of B-cell lymphoma
Spitz Nevus juvenile melanoma (always benign)
Stein-Leventhal polycystic ovary
Stevens-Johnson Syndrome erythema multiforme, fever, malaise, mucosal ulceration (often 2 to infection or sulfa
drugs)

Stills Disease juvenile rheumatoid arthritis (absence of rheumatoid factor)

Takayasus arteritis aortic arch syndrome
loss of carotid, radial or ulnar pulses
Tay-Sachs gangliosidosis (hexosaminidase A deficiency GM2 ganglioside)
Tetralogy of Fallot VSD, overriding aorta, pulmonary artery stenosis, right ventricular hypertrophy
Tourettes Syndrome involuntary actions, both motor and vocal
Turcots Syndrome adenomatous polyps of colon plus CNS tumors
Turners Syndrome 45, XO
Vincents Infection trench mouth - acute necrotizing ulcerative gingivitis
von Gierkes Disease glycogen storage disease (G6Pase deficiency)
von Hippel-Lindau hemangioma (or hemangioblastoma)
adenomas of the viscera, especially renal cell carcinoma
von Recklinghausens neurofibromatosis & caf au lait spots
von Recklinghausens Disease of osteitis fibrosa cystica (brown tumor) 2 to hyperparathyroidism
Bone
von Willebrands Disease defect in platelet adhesion 2 to deficiency in vWF
Waldenstroms proliferation of IgM-producing lymphoid cells
macroglobinemia
Wallenbergs Syndrome Posterior Inferior Cerebellar Artery (PICA) thrombosis
Medullary Syndrome
Ipsilateral: ataxia, facial pain & temp; Contralateral: body pain & temp
Waterhouse-Friderichsen catastrophic adrenal insufficiency 2 to hemorrhagic necrosis (eg, DIC)
often 2 to meningiococcemia
Webers Syndrome Paramedian Infarct of Midbrain
Ipsilateral: mydriasis; Contralateral: UMN paralysis (lower face & body)
Wegeners Granulomatosis necrotizing granulomatous vasculitis of paranasal sinuses, lungs, kidneys, etc.
Weils Disease leptospirosis
Wermers Syndrome MEN type I (thyroid, parathyroid, adrenal cortex, pancreatic islets, pituitary)
Wernickes Aphasia Sensory Aphasia impaired comprehension
Wernicke-Korsakoff Syndrome thiamine deficiency in alcoholics; bilateral mamillary bodies (confusion, ataxia,
ophthalmoplegia)
Whipples Disease malabsorption syndrome (with bacteria-laden macrophages) & polyarthritis
Wilsons Disease hepatolenticular degeneration (copper accumulation & decrease in ceruloplasmin)
 www.Qworld.co.in A-Z Disease List for NEETPG

Wiskott-Aldrich Syndrome immunodeficiency: combined B- &T-cell deficiency (thrombocytopenia & eczema)

Wolff-Chaikoff Effect high iodine level ( )s thyroid hormone synthesis
Zenkers Diverticulum esophageal; cricopharyngeal muscles above UES
Zollinger-Ellison gastrin-secreting tumor of pancreas (or intestine) acid intractable ulcers,
Increased gastrin + Increased Acid Output.