Browse all conditions

Rare disease research updates and clinical trials, in plain language — summaries of newly published research and active trials for rare and complex conditions, with monthly updates sourced from PubMed and ClinicalTrials.gov.

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A

Adult-onset Still's diseaseStill's disease AL amyloidosisimmunoglobulin light-chain amyloidosis · immunoglobulin light chain amyloidosis Alpha-mannosidosisAlpha-mannosidase deficiency · Mannosidosis type I Alström syndromeAlström hereditary dystrophy · Alstrom syndrome Alternating hemiplegia of childhood Angelman syndromeHappy puppet syndrome Anti-synthetase syndromeantisynthetase syndrome ATTRv amyloidosisATTRv · hereditary ATTR amyloidosis Atypical hemolytic uremic syndromeAtypical hemolytic-uremic syndrome · Atypical haemolytic uraemic syndrome Autoimmune encephalitisHashimoto's encephalopathy · Steroid-responsive encephalopathy associated with autoimmune thyroiditis Autoimmune hemolytic anemiaImmune mediated hemolytic anemia · Immune hemolytic anemia

B

Bardet-Biedl syndromeBardet–Biedl Syndrome · Bardet Biedl Syndrome Behçet's diseaseBehçet disease · Behçet syndrome

C

Castleman diseaseAngiofollicular lymph node hyperplasia · Hyaline-vascular Castleman disease CDKL5 deficiency disorderCDKL5 deficiency syndrome CholesteatomaMiddle ear cholesteatoma · Epidermoid cholesteatoma Chronic recurrent multifocal osteomyelitisChronic nonbacterial osteomyelitis · Chronic nonbacterial osteitis Cold agglutinin diseaseCold agglutinin syndrome · Cold hemagglutinin disease Congenital adrenal hyperplasiaCongenital adrenocortical hyperplasia Congenital hyperinsulinismCongenital hyperinsulinism of infancy · Hyperinsulinism of infancy Cryopyrin-associated periodic syndromesCryopyrin-associated periodic syndrome · Cryopyrin-associated autoinflammatory syndrome

D

DermatomyositisJuvenile dermatomyositis Dravet syndromeSevere myoclonic epilepsy of infancy · Dravet's syndrome

E

Eosinophilic fasciitisShulman syndrome · Juvenile eosinophilic fasciitis Erdheim-Chester diseaseErdheim-Chester syndrome · Erdheim Chester Disease Evans syndromeAutoimmune hemolytic anemia with immune thrombocytopenia · Autoimmune hemolytic anemia and immune thrombocytopenia

F

Fabry diseaseAnderson-Fabry disease · Fabry's disease Familial Mediterranean feverFamilial paroxysmal polyserositis · Paroxysmal polyserositis, familial Fragile X syndromeMartin-Bell syndrome · Fragile X mental retardation syndrome Friedreich ataxiaFriedreich's ataxia

G

Gaucher diseaseGaucher's disease · Gaucher disease type 1 Glomus jugulare tumorglomus jugulare · glomus jugulare tumors

H

Hemophagocytic lymphohistiocytosisHemophagocytic syndrome · Familial hemophagocytic lymphohistiocytosis Hereditary spastic paraplegiaFamilial spastic paraplegia · Hereditary spastic paraplegias Hunter syndromeMucopolysaccharidosis type II · Hunter disease Hurler syndromeMucopolysaccharidosis type I · Hurler disease HypophosphatasiaFamilial hypophosphatasia · Hereditary hypophosphatasia

I

IgG4-related diseaseIgG4-related sclerosing disease · IgG4-related systemic disease

K

Kabuki syndromeKabuki make-up syndrome · Niikawa-Kuroki syndrome Kleefstra syndrome Krabbe diseaseGloboid cell leukodystrophy · Krabbe's disease

L

Langerhans cell histiocytosisHistiocytosis X · Hand-Schuller-Christian disease Large granular lymphocytic leukemiaNatural killer cell large granular lymphocytic leukemia · T-cell large granular lymphocytic leukemia Loeys-Dietz syndromeLoeys–Dietz Syndrome · Loeys-Dietz syndrome type I Lymphangioleiomyomatosislymphangiomyomatosis · pulmonary lymphangioleiomyomatosis

M

Marfan syndromeMarfan's syndrome · Marfan disease Metachromatic leukodystrophyMetachromatic leucodystrophy · Arylsulfatase A deficiency Multiple system atrophyShy-Drager syndrome

N

Niemann-Pick disease type CNiemann-Pick disease, type C

P

Paroxysmal nocturnal hemoglobinuriaParoxysmal nocturnal haemoglobinuria PhenylketonuriaPhenylalanine hydroxylase deficiency · Phenylpyruvic aciduria Pitt-Hopkins syndromeMental retardation, Pitt type · Pitt–Hopkins Syndrome PolymyositisIdiopathic polymyositis Pompe diseaseacid maltase deficiency · acid alpha-glucosidase deficiency Prader-Willi syndromePrader-Labhart-Willi syndrome · Prader Willi syndrome Primary hyperoxaluriaHereditary oxalosis · Primary oxaluria Progressive supranuclear palsySteele-Richardson-Olszewski syndrome · Richardson's syndrome Pulmonary alveolar proteinosisAlveolar proteinosis · Idiopathic pulmonary alveolar proteinosis

R

Relapsing polychondritis Rett syndromeRett's syndrome · Rett disease

S

Sanfilippo syndromeSanfilippo disease · Mucopolysaccharidosis type III Spinocerebellar ataxiaSpinocerebellar ataxias · Machado-Joseph disease Splenic marginal zone lymphomaSplenic marginal zone B-cell lymphoma · Splenic lymphoma with villous lymphocytes Stiff person syndromestiff-man syndrome · stiff-person syndrome

T

Thrombotic thrombocytopenic purpuraAcquired thrombotic thrombocytopenic purpura · Congenital thrombotic thrombocytopenic purpura Tuberous sclerosis complexTuberous sclerosis · Bourneville disease

V

Vascular Ehlers-Danlos syndromeEhlers-Danlos syndrome, vascular type VEXAS syndromeVacuoles, E1 enzyme, X-linked autoinflammatory syndrome · UBA1-associated autoinflammatory syndrome

W

Waldenström macroglobulinemiaWaldenström's macroglobulinemia · Waldenström macroglobulinaemia wild-type ATTR amyloidosiswild type ATTR · ATTRwt

X

X-linked hypophosphatemiaX-linked hypophosphatemic rickets · X-linked hypophosphataemic rickets