Appendix B: List of Rare Diseases

Rare Disease Caregiving in America: Appendix B ? List of Rare Diseases

Appendix B: List of Rare Diseases

Rare caregivers were asked to indicate what rare disease, illness, or condition their care recipient had from a list of over 6,000 potential rare diseases. Below is a table showing the percentage and count of rare caregivers represented in this study by each condition they selected.

Cystic fibrosis Pulmonary arterial hypertension Atypical hemolytic uremic syndrome Ehlers-Danlos syndromes Fabry disease Congenital central hypoventilation syndrome PANDAS SATB2-associated syndrome Myasthenia gravis Osteogenesis imperfecta Eosinophilic enteropathy Hypermobile Ehlers-Danlos syndrome Hypophosphatasia Cardiofaciocutaneous syndrome Huntington disease Tuberous sclerosis Prader-Willi syndrome Hemophilia A Lennox-Gastaut syndrome Alternating hemiplegia of childhood CDKL5-related disorder Neuronal ceroid lipofuscinosis Shwachman-Diamond syndrome Zellweger syndrome Alpha-1 antitrypsin deficiency DDX3X-related intellectual disability Pediatric acute-onset neuropsychiatric syndrome CADASIL Primary sclerosing cholangitis Sickle cell anemia

All Rare Caregivers (n=1,406)

Percentage Number

9.5%

133

3.6%

51

2.1%

29

1.8%

26

1.8%

26

1.7%

24

1.6%

23

1.4%

20

1.4%

19

1.2%

17

1.1%

16

1.1%

16

1.1%

16

1.1%

15

1.1%

15

1.1%

15

0.9%

12

0.8%

11

0.8%

11

0.7%

10

0.7%

10

0.7%

10

0.7%

10

0.7%

10

0.6%

9

0.6%

9

0.6%

9

0.6%

8

0.6%

8

0.6%

8

1

Rare Disease Caregiving in America: Appendix B ? List of Rare Diseases

Spinal muscular atrophy Loeys-Dietz syndrome X-linked myotubular myopathy Autosomal dominant centronuclear myopathy CLOVES syndrome Duchenne muscular dystrophy Hypoparathyroidism Imperforate anus Peroxisome biogenesis disorder-Zellweger syndrome sRpeetct tsryunmdrome Acquired hemophilia Aplastic anemia Cerebrospinal fluid leak CHARGE syndrome Familial lipoprotein lipase deficiency Mucopolysaccharidosis type II Necrotizing enterocolitis Niemann-Pick disease type B Panhypopituitarism X-linked Pediatric multiple sclerosis Sturge-Weber syndrome Acromegaly ADCY5-related dyskinesia Beh?et disease Cerebrotendinous xanthomatosis Childhood hypophosphatasia Common variable immunodeficiency Costello syndrome Dyskeratosis congenita Familial dysautonomia GATAD2B-associated neurodevelopmental disorder Hemophilia B Idiopathic thrombocytopenic purpura Mastocytosis Mitochondrial disease with severe hypotonia, lactic aMciitdoacehmoniadarniadl gheynpeetriacmdimsoorndeemrsia Moebius syndrome Noonan syndrome Osteogenesis imperfecta type I

All Rare Caregivers (n=1,406)

Percentage Number

0.6%

8

0.5%

7

0.5%

7

0.4%

6

0.4%

6

0.4%

6

0.4%

6

0.4%

6

0.4%

6

0.4%

6

0.4%

5

0.4%

5

0.4%

5

0.4%

5

0.4%

5

0.4%

5

0.4%

5

0.4%

5

0.4%

5

0.4%

5

0.4%

5

0.3%

4

0.3%

4

0.3%

4

0.3%

4

0.3%

4

0.3%

4

0.3%

4

0.3%

4

0.3%

4

0.3%

4

0.3%

4

0.3%

4

0.3%

4

0.3%

4

0.3%

4

0.3%

4

0.3%

4

0.3%

4

2

Rare Disease Caregiving in America: Appendix B ? List of Rare Diseases

Osteogenesis imperfecta type III Osteogenesis imperfecta type IV Phenylketonuria Spina bifida West syndrome X-linked hypophosphatemia X-linked periventricular heterotopia 22q11.2 deletion syndrome Alagille syndrome Arachnoiditis Arthrogryposis multiplex congenita Autoimmune polyglandular syndrome type 1 Cerebral palsy Cerebro-costo-mandibular syndrome Chronic inflammatory demyelinating polyneuropathy Cohen syndrome Complex regional pain syndrome Congenital adrenal hyperplasia Cystinosis EEC syndrome Evans syndrome Glycogen storage disease type 2 Hemophagocytic lymphohistiocytosis Hereditary sensory and autonomic neuropathy type 1E Hirschsprung's disease Hypomyelination with atrophy of basal ganglia and cIderioepbaetlhluicmpulmonary fibrosis Isovaleric acidemia Leigh syndrome Mosaic trisomy 9 Moyamoya disease Multiple myeloma Narcolepsy Peroxisomal biogenesis disorders Primary ciliary dyskinesia Propionic acidemia PTEN hamartoma tumor syndrome Ring chromosome 20 Severe combined immunodeficiency

All Rare Caregivers (n=1,406)

Percentage Number

0.3%

4

0.3%

4

0.3%

4

0.3%

4

0.3%

4

0.3%

4

0.3%

4

0.2%

3

0.2%

3

0.2%

3

0.2%

3

0.2%

3

0.2%

3

0.2%

3

0.2%

3

0.2%

3

0.2%

3

0.2%

3

0.2%

3

0.2%

3

0.2%

3

0.2%

3

0.2%

3

0.2%

3

0.2%

3

0.2%

3

0.2%

3

0.2%

3

0.2%

3

0.2%

3

0.2%

3

0.2%

3

0.2%

3

0.2%

3

0.2%

3

0.2%

3

0.2%

3

0.2%

3

0.2%

3

3

Rare Disease Caregiving in America: Appendix B ? List of Rare Diseases

Spinal muscular atrophy type 2 Trisomy 18 VACTERL association WAGR syndrome 15q13.3 microdeletion syndrome 16p11.2 deletion syndrome 1q21.1 microdeletion syndrome Acquired hemophilia A Aicardi-Goutieres syndrome AL amyloidosis Ataxia telangiectasia Autoimmune encephalitis Bohring-Opitz syndrome Carcinoid tumor Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sCehnosnodrrinoudryaslphlaesairainpgunlocstsata 1, X-linked recessive Chromosome 18q duplication Chromosome 4q deletion Cornelia de Lange syndrome Corticobasal degeneration Crohn's disease of the esophagus D-bifunctional protein deficiency Dementia, familial Danish Focal dermal hypoplasia FOXG1 syndrome Friedreich ataxia Frontotemporal dementia Gastroschisis Gaucher disease GM1 gangliosidosis Guillain-Barre syndrome Hemimegalencephaly Hemophilia Hurler syndrome Hypoplastic left heart syndrome Immune thrombocytopenia KCNQ2-Related Disorders Klippel-Trenaunay syndrome Leber hereditary optic neuropathy

All Rare Caregivers (n=1,406)

Percentage Number

0.2%

3

0.2%

3

0.2%

3

0.2%

3

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

4

Rare Disease Caregiving in America: Appendix B ? List of Rare Diseases

Leukodystrophy Lupus erythematosus tumidus McCune-Albright syndrome Merkel cell carcinoma Metachromatic leukodystrophy Mollaret meningitis Mucolipidosis type 4 Mucopolysaccharidosis type I Mucopolysaccharidosis type IIIA Mucopolysaccharidosis type VI Myelodysplastic syndromes Neurodegeneration with brain iron accumulation Optic nerve hypoplasia, familial bilateral Paralysis agitans, juvenile, of Hunt Periventricular heterotopia Polycythemia vera Post Polio syndrome Pseudotumor cerebri Reducing body myopathy Relapsing polychondritis Rubinstein-Taybi syndrome Sickle beta thalassemia Soft tissue sarcoma Spinal muscular atrophy 1 Spinal muscular atrophy with respiratory distress 1 Spinocerebellar ataxia Urea cycle disorders Waldenstrom macroglobulinemia WHIM syndrome Wilson disease 22q11.2 duplication syndrome 22q13.3 deletion syndrome 2q23.1 microdeletion syndrome 48,XXYY syndrome 5q14.3 microdeletion syndrome 6-pyruvoyl-tetrahydropterin synthase deficiency Aarskog syndrome Acquired Von Willebrand syndrome Acute intermittent porphyria

All Rare Caregivers (n=1,406)

Percentage Number

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

2

0.1%

1

0.1%

1

0.1%

1

0.1%

1

0.1%

1

0.1%

1

0.1%

1

0.1%

1

0.1%

1

5

 ................
................

In order to avoid copyright disputes, this page is only a partial summary.

Google Online Preview   Download