Rare Diseases and the PSOD Rare Disease Registry

What is a rare disease?

Rare diseases refer to “life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them”.

  • 10% to 15% of individuals worldwide are roughly estimated to be affected by rare disease, but the definition and categorization of rare diseases differ slightly by region.
  • Definition of rare disease in some countries:
    US = 1 in 1,500
    Europe = 1 in 2,000
    Japan = 1 in 4,000
    Taiwan = 1 in 10,000
  • 80% of rare diseases have identified genetic origins
  • 50% of rare diseases affect children, and 30% of patients with rare diseases die before the age of 5
  • 5,000-8,000 rare diseases are thought to exist2, with approximately 250 new diseases being described on an annual basis

PSOD Rare Disease Registry

As of January 2017, there are 319* patients in the PSOD registry accounting for 63 rare disorders listed below:

Adrenoleukodystrophy
Alagille Syndrome
Agammaglobulinemia
(X-linked Bruton'sAgammaglobulinemia)
Apert Syndrome
ASALS Urea Cycle Defect
Blue Rubber Bleb Nevus Syndrome
Carbamoyl Phosphate Synthetase Deficiency
CHARGE Syndrome
Cornelia de Lange Syndrome
Congenital Central Hypoventilation Syndrome
Cyclic Neutropenia
Ellis-van Creveld Syndrome
Dystrophic EpidermolysisBullosa
Fabry Disease
FanconiAnemia
FibrodysplasiaOssificansProgressiva
Freeman-Sheldon Syndrome
Galactosemia
GaucherDisesase
GM1 Gangliosidosis
GlutarticAciduria
Hallervorden-Spatz Disease
Hereditary Angioedema
Heterozygous Cystathioninuria
HemophagocyticLymphohistiocystosis
HolocarboxylaseSynthetase Deficiency
Holt-Oram Syndrome
Homocystinuria
Homozygous Cystinuria
Hyperphenylalaninemia
Job Syndrome (Hyper IgE Syndrome)
Lesch-Nyhan Syndrome
Liddle Syndrome
Lowe Syndrome

LSD- Multiple Sulfatase Syndrome
Maple Syrup Urine Disease
Menkes Syndrome
MethylmalonicAcidemia
Moebius Syndrome
Mowat-Wilson Syndrome
Mucolipidosis
Mucopolysaccharidosis
a. MPS I – Hurler Syndrome
b. MPS II – Hunter Syndrome
c. MPS III – Sanfilippo Syndrome
d. MPS IV – Morquio Syndrome
e. MPS VI – Maroteaux-Lamy Syndrome
Niemann-Pick Disease
OsteogenesisImperfecta
Pelizaeus-Merzbacher Disease
Phenylketonuria
Pompe Disease
Prader-Willi Syndrome
6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency
Respiratory Chain Complex Deficiency
Rett Syndrome
RhizomelicChondrodysplasiaPunctata
Rubinstein-Taybi Syndrome
Sacral Agenesis/Caudal Regression Syndrome
Shprintzen-Goldberg Syndrome
Spinal Muscular Atrophy
Thanatophoric Dysplasia
Tay-Sachs Disease
Tyrosinemia
VACTERL Syndrome
Waardenburg Syndrome
Wiskott Aldrich Syndrome
Wilson Disease