The RARE Portal team is gradually adding information pages for the rare diseases listed below. These information pages are intended for multiple stakeholders. For more information about how the pages are developed, please visit the About page. Wherever possible, support group(s) are listed for each condition. Important: Rare Voices Australia and the RARE Portal team don’t necessarily endorse the support groups listed. When engaging with a group, please consider the information on the Finding Helpful Peer and Community Supports page.

Note: this is not intended to be an exhaustive list of the 7,000+ rare diseases. If you would like to have an information page for a rare disease(s) added, or your support group listed or removed, please use the Contact page.

A

Aarskog-Scott syndrome

Acalvaria

Achalasia

Support Organisation(s):

Acrodysostosis

Support Organisation(s):

Personal Story:

Acute disseminated encephalomyelitis

Support Organisation(s):

Acute flaccid myelitis (AFM)

Support Organisation(s):

Acute necrotizing encephalopathy

Support Organisation(s):

Addison’s disease (Primary adrenal insufficiency)

Support Organisation(s):

Personal Stories:

Adult-onset Still’s disease

Support Organisation(s):

Personal Story:

Alkaptonuria

Support Organisation(s):

Allgrove syndrome

Support Organisation(s):

Alpha-mannosidosis

Support Organisation(s):

Alpha thalassaemia

Support Organisation(s):

Personal Story:

Alport syndrome

Support Organisation(s):

Alström syndrome

Support Organisation(s):

Amyloidosis

Support Organisation(s):

Personal Story:

Anorectal malformation

Support Organisation(s):

Personal Story:

Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV)

Support Organisation(s):

Personal Story:

Arginase deficiency (ARG)

Support Organisation(s):

Argininosuccinic aciduria

Support Organisation(s):

Aromatic L-amino acid decarboxylase (AADC) deficiency

Support Organisation(s):

Aspartylglucosaminuria

Support Organisation(s):

Ataxia-telangiectasia (A-T)

Support Organisation(s):

B

Beck-Fahrner syndrome

Support Organisation(s):

Personal Story:

Beta-ketothiolase deficiency (β-ketothiolase deficiency)

Beta-mannosidosis

Support Organisation(s):

Beta-thalassaemia

Support Organisation(s):

Bleeding disorders

Support Organisation(s):

Bloom syndrome

Support Organisation(s):

Biotinidase deficiency

Bone marrow failure syndromes

Support Organisation(s):

C

CACNA1A-related disorders

Support Organisation(s):

Castleman disease

CDKL5-deficiency disorder

Support Organisation(s):

Cerebrospinal fluid (CSF) leak

Support Organisation(s):

Charcot-Marie-Tooth disease

Support Organisation(s):

Charles Bonnet syndrome (CBS)

Support Organisation(s):

Chiari malformation

Support Organisation(s):

Childhood dementia disorders

Support Organisation(s):

Chromosomal deletion syndrome

Personal Story:

Chronic granulomatous disorder

Support Organisation(s):

Chronic idiopathic neutropenia

Support Organisation(s):

Personal Story:

Chronic intestinal failure

Support Organisation(s):

Chronic intestinal pseudo-obstruction

Support Organisation(s):

Personal Story:

Chronic recurrent multifocal osteomyelitis

Support Organisation(s):

Circadian rhythm disorder

Support Organisation(s):

Cockayne syndrome

Support Organisation(s):

Cogan syndrome

Support Organisation(s):

Cold agglutinin disease

Support Organisation(s):

Common variable immune deficiency (CVID)

Support Organisation(s):

Cone-rod dystrophy

Support Organisation(s):

Personal Story:

Congenital adrenal hyperplasia

Support Organisation(s):

Congenital diaphragmatic hernia

Support Organisation(s):

Congenital hyperinsulinism

Support Organisation(s):

Congenital rubella syndrome (CRS)

Congenital varicella syndrome (CVS)

Corneal neuralgia

Personal Story:

Cortical visual impairment

Support Organisation(s):

Craniosynostosis

Support Organisation(s):

Cri du Chat syndrome

Support Organisation(s):

Crohn’s disease

Support Organisation(s):

Crusted scabies

Support Organisation(s):

Cutaneous mastocytosis (CM)

Support Organisation(s):

Classical homocystinuria / cystathionine beta-synthase deficiency

Support Organisation(s):

D

Dandy-walker syndrome

Support Organisation(s):

Danon disease

Support Organisation(s):

Deficiency of Adenosine Deaminase 2 (DADA2)

Support Organisation(s):

DeSanto-Shinawi syndrome (DESSH)

Support Organisation(s):

Dwarfism / skeletal dysplasia

Support Organisation(s):

Dyskeratosis congenita

Support Organisation(s):

Dysphonia

Support Organisation(s):

E

Edwards syndrome (Trisomy 18)

Support Organisation(s):

Eosinophilic gastrointestinal diseases (EGIDs)

Support Organisation(s):

Eosinophilic oesophagitis (EoE)

Support Organisation(s):

Epilepsy

Support Organisation(s):

Erdheim-Chester disease

Support Organisation(s):

Erythromelalgia (EM)

Support Organisation(s):

Essential thrombocythemia

Support Organisation(s):

Evans syndrome

F

Fabry disease

Support Organisation(s):

Facioscapulohumeral muscular dystrophy (FSHD)

Support Organisation(s):

Fatty acid oxidation disorders

Support Organisation(s):

Fibrodysplasia ossificans progressiva (FOP)

Support Organisation(s):

Personal Story:

Fibromuscular dysplasia (FMD)

Support Organisation(s):

Personal Story:

Fibrous dysplasia/McCune-Albright syndrome

Support Organisation(s):

Personal Story:

Fowler syndrome

Support Organisation(s):

FOXP1 syndrome

Support Organisation(s):

Fragile X syndrome

Support Organisation(s):

G

Galactosaemia

Support Organisation(s):

Galactosialidosis

Support Organisation(s):

Generalized arterial calcification of infancy

Support Organisation(s):

Giant cell tumour

Support Organisation(s):

Glutaric acidemia type 1

Support Organisation(s):

Glutaric acidemia type 2 (multiple acyl-CoA-dehydrogenase deficiency)

Support Organisation(s):

Guillain-Barre syndrome

Support Organisation(s):

Personal Story:

H

Haemochromatosis

Support Organisation(s):

Hennekam syndrome

Personal Story:

Hereditary angioedema

Support Organisation(s):

Hereditary spastic paraplegia

Support Organisation(s):

Heritable connective tissue disorders (HCTDs)

Support Organisation(s):

HHV-8 associated multicentric castleman disease (HHV-8+MCD)

Hirschsprung disease

Support Organisation(s):

Holocarboxylase synthase deficiency

Homer gene variants

Support Organisation(s):

Homozygous familial hypercholesterolemia

Support Organisation(s):

Hydrocephalus

Support Organisation(s):

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome (4H syndrome)

Support Organisation(s):

Hypophosphatemic rickets

Support Organisation(s):

I

Ichthyosis

Support Organisation(s):

Personal Story:

Idiopathic intracranial hypertension

Support Organisation(s):

Idiopathic multicentric castleman disease (iMCD)

Immune thrombocytopenia

Support Organisation(s):

Personal Story(s):

Immune-mediated necrotizing myopathy

Support Organisation(s):

Personal Story:

Inclusion body myositis

Support Organisation(s):

Personal Story:

Interstitial cystitis/painful bladder syndrome

Support Organisation(s):

Personal Story:

Infantile spasms

Support Organisation(s):

Personal Story:

Infantile dystonia-parkinsonism /  dopamine transporter deficiency syndrome (DTDS)

Support Organisation(s):

Interstitial lung disease

Support Organisation(s):

Isaac syndrome

K

Kabuki syndrome

Support Organisation(s):

KAT6A/B syndrome

Support Organisation(s):

Klippel-Feil syndrome

Support Organisation(s):

Klippel-Trénaunay syndrome (KTS)

Support Organisation(s):

Personal Story:

Krabbe disease

Support Organisation(s):

L

Lafora disease

Support Organisation(s):

Large granular lymphocytic leukemia

Support Organisation(s):

Limb-girdle muscular dystrophy (LGMD)

Support Organisation(s):

Limb-girdle muscular dystrophy 2A/R1 (LGMD 2A/R1)

Support Organisation(s):

Lipoedema

Support Organisation(s):

Livedoid vasculopathy

Liver conditions

Support Organisation(s):

Locked-in syndrome

Support Organisation(s):

Lymphangioleiomyomatosis (LAM)

Support Organisation(s):

M

Mal de Debarquement syndrome

Support Organisation(s):

Personal Story:

Malan syndrome

Support Organisation(s):

Meester-Loeys syndrome

Maple syrup urine disease (MSUD)

Support Organisation(s):

Personal Story:

Mast cell activation syndrome (MCAS)

Support Organisation(s):

Mast cell sarcoma (MCS)

Support Organisation(s):

MEF2C haploinsufficiency syndrome

Support Organisation(s):

Megacystis microcolon intestinal hypoperistalsis syndrome

Support Organisation(s):

Meniere’s disease

Support Organisation(s):

Mesothelioma

Support Organisation(s):

Methylmalonic acidemia

Support Organisation(s):

Mitochondrial diseases

Support Organisation(s):

Personal Story:

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)

Support Organisation(s):

Moebius syndrome

Support Organisation(s):

MOG antibody disease

Support Organisation(s):

Mosaic trisomy 20

Support Organisation(s):

Personal Story:

Mowat-Wilson syndrome

Support Organisation(s):

Moyamoya disease

Support Organisation(s):

Mucopolysaccharidosis type VI

Support Organisation(s):

Multiple sclerosis (MS)

Support Organisation(s):

Multiple system atrophy

Support Organisation(s):

Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS)

Support Organisation(s):

Myelodysplastic syndrome

Support Organisation(s):

Personal Story:

Myeloproliferative neoplasm

Support Organisation(s):

Myositis/Idiopathic inflammatory myopathy

Support Organisation(s):

Personal Story(s):

N

Narcolepsy

Support Organisation(s):

NEDDFL syndrome

Personal Story:

Netherton syndrome

Personal Story:

Neurofibromatosis

Support Organisation(s):

Neuromyelitis optica spectrum disorder (NMOSD)

Support Organisation(s):

NGLY1 deficiency

Support Organisation(s):

Niemann-Pick disease type C (NPC)

Support Organisation(s):

O

Ocular neuropathic pain

Personal Story(s):

Oculopharyngeal muscular dystrophy

Personal Story:

Ohdo syndrome

Personal Story:

Ornithine transcarbamylase deficiency

Support Organisation(s):

Osteogenesis imperfecta

Support Organisation(s):

Personal Story(s):

P

Panhypopituitarism

Support Organisation(s):

Personal Story:

Paroxysmal nocturnal haemoglobinuria (PNH)

Support Organisation(s):

Personal Story:

Pelizaeus-Merzbacher disease

Support Organisation(s):

Peutz-Jeghers syndrome

Personal Story:

Pitt-Hopkins syndrome

Support Organisation(s):

Pierre Robin sequence

Support Organisation(s):

Pigmented villonodular synovitis

Support Organisation(s):

Pituitary conditions

Support Organisation(s):

Poland syndrome

Personal Story:

Polycystic kidney disease

Support Organisation(s):

Polycythemia vera

Support Organisation(s):

Polymicrogyria

Support Organisation(s):

Personal Story:

Potocki-Shaffer syndrome

Support Organisation(s):

PPA2-associated sudden cardiac death

Personal Story:

Primary biliary cholangitis

Support Organisation(s):

Primary familial intrahepatic cholestasis

Support Organisation(s):

Primary sclerosing cholangitis

Support Organisation(s):

Pseudomyxoma peritonei

Support Organisation(s):

Pulmonary arterial hypertension

Support Organisation(s):

PURA syndrome

Support Organisation(s):

Punctate inner choroidopathy (PIC)

Support Organisation(s):

Q

R

Ramsay Hunt syndrome

Support Organisation(s):

Renal Nutcracker syndrome

Riboflavin transporter deficiency

Support Organisation(s):

S

Sandhoff disease

Support Organisation(s):

Sanfilippo syndrome

Support Organisation(s):

Sarcoidosis

Support Organisation(s):

SATB2 associated syndrome

Support Organisation(s):

Schindler disease

Support Organisation(s):

Schwannomatosis

Support Organisation(s):

Silver-Russell syndrome

Support Organisation(s):

Smith-Magenis syndrome (SMS)

Support Organisation(s):

Sotos syndrome

Support Organisation(s):

Spinal muscular atrophy

Support Organisation(s):

Spinocerebellar ataxia

Support Organisation(s):

Personal Story(s):

Still’s disease

Superficial siderosis

Support Organisation(s):

Superior mesenteric artery syndrome (SMAS)

Support Organisation(s):

Personal Story:

SYNGAP1-related disorder

Support Organisation(s):

Systemic mastocytosis (SM)

Support Organisation(s):

T

Tarlov cyst

Support Organisation(s):

Tay-Sachs disease

Support Organisation(s):

Timothy syndrome

Support Organisation(s):

Telomere biology disorders

Support Organisation(s):

Tenosynovial giant cell tumour (TGCT)

Support Organisation(s):

Trichothiodystrophy (TTD)

Support Organisation(s):

Trisomy 18

Support Organisation(s):

Tuberous Sclerosis Complex (TSC)

Support Organisation(s):

Personal Story:

U

Undiagnosed genetic conditions

Support Organisation(s):

Unicentric castleman disease (UCD)

Usher syndrome

Support Organisation(s):

V

Vanishing white matter (VWM)

Support Organisation(s):

Vascular malformations

Support Organisation(s):

VGKC-associated limbic encephalitis

Support Organisation(s):

Von Willebrand disease

Support Organisation(s):

W

Warm autoimmune haemolytic anaemia (wAIHA)

Support Organisation(s):

White-Sutton syndrome

Support Organisation(s):

Williams syndrome

Support Organisation(s):

X

X-linked genetic disorders

Support Organisation(s):

X-linked hypophosphatemia

Support Organisation(s):

Personal Story:

W

You-Hoover-Fong syndrome

W

1

15q11.2 microdeletion syndrome

15q11.2-13.1 duplication syndrome (Dup15q syndrome)

Support Organisation(s):

15q13.3 microdeletion syndrome

17q12 microdeletion syndrome

Support Organisation(s):

2

22q11.2 deletion syndrome

Support Organisation(s):

22q11.2 duplication syndrome

Support Organisation(s):

3

3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency

Support Organisation(s):

4