20p12.3 microdeletion
syndrome
3 Cases
313781
20p13 microdeletion syndrome
4 Cases
444051
20q11.2 microdeletion
syndrome
11 Cases
261323
21q22.11q22.12 microdeletion
syndrome
12 Cases
567
22q11.2 deletion syndrome
37.5 BP
439232
AApoAIV amyloidosis
2 Cases
915
Aarskog-Scott syndrome
0.5 BP *
916
Aase-Smith syndrome
10 Cases
324723
ABeta amyloidosis, Arctic type
1 Family
100006
ABeta amyloidosis, Dutch type
250 Cases
324708
ABeta amyloidosis, Iowa type
2 Families
324713
ABeta amyloidosis, Italian type
7 Families
324718
ABetaA21G amyloidosis
2 Families
324703
ABetaL34V amyloidosis
1 Family
920
Ablepharon macrostomia
syndrome
16 Cases
921
Abruzzo-Erickson syndrome
4 Cases
2310
Absence deformity of leg-
cataract syndrome
2 Cases
1658
Absence of fingerprints-
congenital milia syndrome
14 Cases
980
Absence of the pulmonary
artery
0.5 I *
2951
Absent thumb-short stature-
immunodeficiency syndrome
3 Cases
3328
Absent tibia-polydactyly-
arachnoid cyst syndrome
3 Cases
67043
Acanthamoeba keratitis
1.0 P *
90301
Acanthosis nigricans-insulin
resistance-muscle cramps-acral
enlargement syndrome
5 Cases
926
Acatalasemia
3.2 P *
48818
Aceruloplasminemia
0.09 P
929
Achalasia-microcephaly
syndrome
7 Cases
15
Achondroplasia
4.0 BP
49382
Achromatopsia
2.7 P
40366
Acitretin/etretinate
embryopathy
26 Cases
2561
Ackerman syndrome
8 Cases
90065
Acquired aneurysmal
subarachnoid hemorrhage
10.0 P *
91385
Acquired angioedema
200 Cases
46487
Acquired epidermolysis bullosa
0.03 I *
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - November 2016 - Number 1
http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf
5
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
79086
Acquired generalized
lipodystrophy
1.0 P *
73274
Acquired hemophilia
0.1 P *
73274
Acquired hemophilia
0.08 I
2221
Acquired hypertrichosis
lanuginosa
60 Cases
91136
Acquired monoclonal Ig light
chain-associated Fanconi
syndrome
100 Cases
228247
Acquired pseudoxanthoma
elasticum
20 Cases
99147
Acquired von Willebrand
syndrome
300 Cases
158673
Acral dystrophic epidermolysis
bullosa
10 Families
263534
Acral peeling skin syndrome
40 Cases
281127
Acral self-healing collodion
baby
2 Cases
2008
Acro-cardio-facial syndrome
9 Cases
1784
Acro-fronto-facio-nasal
dysostosis
5 Cases
85203
Acro-pectoral syndrome
22 Cases
956
Acro-pectoro-renal dysplasia
12 Cases
958
Acro-renal-mandibular
syndrome
7 Cases
959
Acro-renal-ocular syndrome
20 Families
36
Acrocallosal syndrome
38 Cases
221054
Acrocephalopolydactyly
8 Cases
949
Acrocraniofacial dysostosis
2 Cases
950
Acrodysostosis
80 Cases
280651
Acrodysostosis with multiple
hormone resistance
40 Cases
1786
Acrofacial dysostosis, Catania
type
6 Cases
64542
Acrofacial dysostosis, Kennedy-
Teebi type
2 Cases
1787
Acrofacial dysostosis, Palagonia
type
4 Cases
1788
Acrofacial dysostosis, Rodríguez
type
10 Cases
965
Acromegaloid facial
appearance syndrome
20 Cases
963
Acromegaly
5.5 P
963
Acromegaly
0.35 I
39
Acromelanosis
10 Cases
1827
Acromelic frontonasal dysplasia
18 Cases
968
Acromesomelic dysplasia,
Hunter-Thomson type
10 Cases
40
Acromesomelic dysplasia,
Maroteaux type
50 Cases
969
Acromicric dysplasia
60 Cases
955
Acroosteolysis dominant type
80 Cases
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
363665
Acroosteolysis-keloid-like
lesions-premature aging
syndrome
3 Cases
957
Acropectorovertebral dysplasia
30 Cases
971
Acrorenal syndrome
20 Cases
99892
ACTH-dependent Cushing
syndrome
0.55 I
163696
Action myoclonus-renal failure
syndrome
17 Cases
397596
Activated PI3K-delta syndrome
18 Cases
284460
Acute annular outer
retinopathy
12 Cases
83597
Acute disseminated
encephalomyelitis
0.6 I *
363549
Acute encephalopathy with
biphasic seizures and late
reduced diffusion
283 Cases
293173
Acute generalized
exanthematous pustulosis
0.3 I
217371
Acute infantile liver failure due
to synthesis defect of mtDNA-
encoded proteins
13 Cases
370088
Acute infantile liver failure-
multisystemic involvement
syndrome
6 Cases
98916
Acute inflammatory
demyelinating
polyradiculoneuropathy
3.1 P *
79276
Acute intermittent porphyria
0.54 P *
79276
Acute intermittent porphyria
0.013 I *
79126
Acute interstitial pneumonia
3.8 P *
90062
Acute liver failure
20.0 P *
178320
Acute lung injury
25.0 I *
513
Acute lymphoblastic leukemia
11.0 P *
513
Acute lymphoblastic leukemia
2.75 I *
514
Acute monoblastic leukemia
0.1 I *
519
Acute myeloid leukemia
2.5 I
90064
Acute peripheral arterial
occlusion
16.0 P *
520
Acute promyelocytic leukemia
0.11 I *
90059
Acute sensorineural hearing
loss by acute acoustic trauma or
sudden deafness or surgery
induced acoustic trauma
37.0 P *
139417
Acute transverse myelitis
1.6 I
284454
Acute zonal occult outer
retinopathy
150 Cases
99901
Acyl-CoA dehydrogenase 9
deficiency
16 Cases
100008
ACys amyloidosis
9 Families
55881
Adamantinoma
0.01 I *
85138
Addison disease
12.5 P *
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - November 2016 - Number 1
http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf
6
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
2952
Adducted thumbs-
arthrogryposis syndrome,
Christian type
9 Cases
99976
Adenocarcinoma of esophagus
0.7 I
45
Adenosine monophosphate
deaminase deficiency
100 Cases
46
Adenylosuccinate lyase
deficiency
56 Cases
404448
ADNP-related multiple
congenital anomalies-
intellectual disability-autism
spectrum disorder
10 Cases
1501
Adrenocortical carcinoma
0.75 P *
1501
Adrenocortical carcinoma
0.03 I *
977
Adrenomyodystrophy
2 Cases
2666
Adult familial
nephronophthisis-spastic
quadriparesia syndrome
2 Cases
178487
Adult intestinal botulism
19 Cases
206583
Adult polyglucosan body
disease
50 Cases
978
ADULT syndrome
20 Cases
99027
Adult-onset autosomal
dominant leukodystrophy
20 Families
420492
Adult-onset cervical dystonia,
DYT23 type
2 Families
329478
Adult-onset distal myopathy
due to VCP mutation
9 Cases
199351
Adult-onset dystonia-
parkinsonism
14 Cases
209335
Adult-onset proximal spinal
muscular atrophy, autosomal
dominant
0.1 P *
183669
Agammaglobulinemia
0.13 P *
83617
Agammaglobulinemia-
microcephaly-craniosynostosis-
severe dermatitis syndrome
3 Cases
85448
AGel amyloidosis
475 Cases
98850
Aggressive systemic
mastocytosis
0.33 P *
412069
AHDC1-related intellectual
disability-obstructive sleep
apnea-mild dysmorphism
syndrome
4 Cases
250977
AICA-ribosiduria
1 Case
51
Aicardi-Goutières syndrome
120 Cases
90081
AIDS wasting syndrome
20.0 P *
79085
AKT2-related familial partial
lipodystrophy
1 Family
85443
AL amyloidosis
11.0 P *
404454
Alacrimia-choreoathetosis-liver
dysfunction syndrome
8 Cases
52
Alagille syndrome
0.8 BP *
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
178333
Åland Islands eye disease
5 Families
2007
Alar cartilages hypoplasia-
coloboma-telecanthus
syndrome
2 Cases
53
Albers-Schönberg osteopetrosis
1.0 P
998
Albinism-deafness syndrome
1 Family
35664
ALDH18A1-related De Barsy
syndrome
32 Cases
369929
Aldosterone-producing
adenoma with seizures and
neurological abnormalities
2 Cases
79327
ALG1-CDG
57 Cases
79326
ALG2-CDG
1 Case
79321
ALG3-CDG
11 Cases
79320
ALG6-CDG
54 Cases
79325
ALG8-CDG
15 Cases
79328
ALG9-CDG
10 Cases
280071
ALG11-CDG
5 Cases
79324
ALG12-CDG
11 Cases
324422
ALG13-CDG
1 Case
59
Allan-Herndon-Dudley
syndrome
320 Cases
1006
Alopecia antibody deficiency
3 Cases
700
Alopecia totalis
10.5 P *
701
Alopecia universalis
25.0 P *
1005
Alopecia-contractures-
dwarfism-intellectual disability
syndrome
5 Cases
1008
Alopecia-epilepsy-pyorrhea-
intellectual disability syndrome
12 Cases
1014
Alopecia-intellectual disability-
hypergonadotropic
hypogonadism syndrome
2 Cases
726
Alpers-Huttenlocher syndrome
0.07 P *
726
Alpers-Huttenlocher syndrome
0.7 BP *
60
Alpha-1-antitrypsin deficiency
20.0 P *
100025
Alpha-heavy chain disease
400 Cases
61
Alpha-mannosidosis
0.1 P *
3137
Alpha-N-
acetylgalactosaminidase
deficiency
20 Cases
79279
Alpha-N-
acetylgalactosaminidase
deficiency type 1
10 Cases
79280
Alpha-N-
acetylgalactosaminidase
deficiency type 2
10 Cases
79281
Alpha-N-
acetylgalactosaminidase
deficiency type 3
10 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - November 2016 - Number 1
http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf
7
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
98791
Alpha-thalassemia-intellectual
disability syndrome linked to
chromosome 16
20 Cases
231401
Alpha-thalassemia-
myelodysplastic syndrome
80 Cases
847
Alpha-thalassemia-X-linked
intellectual disability syndrome
200 Cases
63
Alport syndrome
2.0 P *
86818
Alport syndrome-intellectual
disability-midface hypoplasia-
elliptocytosis syndrome
2 Families
64
Alström syndrome
950 Cases
284
Alveolar echinococcosis
0.16 I *
93561
ALys amyloidosis
7 Families
1021
Amaurosis-hypertrichosis
syndrome
2 Cases
1028
Amelo-onycho-hypohidrotic
syndrome
2 Cases
314422
Ameloblastic carcinoma
40 Cases
171836
Amelogenesis imperfecta-
gingival hyperplasia syndrome
8 Cases
1031
Amelogenesis imperfecta-
nephrocalcinosis syndrome
11 Cases
1908
Aminopterin/methotrexate
embryofetopathy
17 Cases
1034
Amniotic bands
2.5 BP *
803
Amyotrophic lateral sclerosis
3.85 P
803
Amyotrophic lateral sclerosis
1.35 I
357043
Amyotrophic lateral sclerosis
type 4
70 Cases
228113
Anal fistula
23.0 P *
98841
Anaplastic large cell lymphoma
2.0 P *
142
Anaplastic thyroid carcinoma
0.1 P *
142
Anaplastic thyroid carcinoma
0.17 I *
93347
Anauxetic dysplasia
10 Cases
157954
ANE syndrome
5 Cases
284984
Aneurysm-osteoarthritis
syndrome
45 Cases
63442
Angel-shaped phalango-
epiphyseal dysplasia
20 Cases
72
Angelman syndrome
7.5 P
72
Angelman syndrome
1.3 BP *
251671
Angiocentric glioma
52 Cases
2346
Angioosteohypertrophic
syndrome
0.8 BP *
370039
Angora hair nevus
2 Cases
69088
Anhidrotic ectodermal
dysplasia-immunodeficiency-
osteopetrosis-lymphedema
syndrome
2 Cases
77
Aniridia
1.75 P
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
77
Aniridia
1.3 I *
1069
Aniridia-absent patella
syndrome
3 Cases
1065
Aniridia-cerebellar ataxia-
intellectual disability syndrome
30 Cases
1068
Aniridia-intellectual disability
syndrome
2 Cases
1067
Aniridia-ptosis-intellectual
disability-familial obesity
syndrome
3 Cases
1064
Aniridia-renal agenesis-
psychomotor retardation
syndrome
2 Cases
1070
Anisakiasis
0.32 I
1074
Ankyloblepharon filiforme-
imperforate anus syndrome
3 Families
2206
Ankylosing vertebral
hyperostosis with tylosis
8 Cases
254411
Annular atrophic lichen planus
10 Cases
281139
Annular epidermolytic
ichthyosis
7 Families
675
Annular pancreas
1.8 BP *
69125
Anonychia with flexural
pigmentation
3 Cases
1094
Anonychia-microcephaly
syndrome
4 Cases
90390
Anonychia-onychodystrophy
syndrome
14 Cases
1104
Anophthalmia plus syndrome
17 Cases
1101
Anophthalmia-megalocornea-
cardiopathy-skeletal anomalies
syndrome
3 Cases
98555
Anophthalmia-microphthalmia
syndrome
8.3 BP *
77298
Anophthalmia/microphthalmia-
esophageal atresia syndrome
30 Cases
93976
Anotia
0.028 BP *
2987
Antecubital pterygium
syndrome
11 Cases
90079
Anthracycline extravasations
0.3 P *
375
Anti-glomerular basement
membrane disease
0.08 I *
454710
Anti-p200 pemphigoid
50 Cases
81
Antisynthetase syndrome
3.5 P
83
Antley-Bixler syndrome
34 Cases
1457
Aorta coarctation
35.6 BP *
1110
Aortic arch anomaly-peculiar
facies-intellectual disability
syndrome
4 Cases
2299
Aortic arch interruption
0.3 BP *
3400
Aorto-ventricular tunnel
130 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - November 2016 - Number 1
http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf
8
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
1112
Aphalangy-hemivertebrae-
urogenital-intestinal dysgenesis
syndrome
3 Cases
1113
Aphalangy-syndactyly-
microcephaly syndrome
5 Cases
324540
Aphonia-deafness-retinal
dystrophy-bifid halluces-
intellectual disability syndrome
2 Cases
1114
Aplasia cutis congenita
10.0 BP
1116
Aplasia cutis congenita-
intestinal lymphangiectasia
syndrome
3 Cases
1117
Aplasia cutis-myopia syndrome
4 Cases
99981
Apnea of prematurity
8.5 P *
425
Apolipoprotein A-I deficiency
30 Families
1129
Arachnodactyly-abnormal
ossification-intellectual
disability syndrome
5 Cases
1130
Arachnodactyly-intellectual
disability-dysmorphism
syndrome
3 Cases
1133
AREDYLD syndrome
3 Cases
23
Argininosuccinic aciduria
1.0 P *
23
Argininosuccinic aciduria
0.46 BP
91
Aromatase deficiency
20 Cases
35708
Aromatic L-amino acid
decarboxylase deficiency
100 Cases
1134
Arrhinia
20 Cases
1135
Arrhinia-choanal atresia-
microphthalmia syndrome
4 Cases
247
Arrhythmogenic right
ventricular cardiomyopathy
20.0 P
1682
Arterial dissection-lentiginosis
syndrome
4 Cases
3342
Arterial tortuosity syndrome
80 Cases
1037
Arthrogryposis multiplex
congenita
5.7 BP *
1150
Arthrogryposis multiplex
congenita-whistling face
syndrome
10 Cases
1485
Arthrogryposis-hyperkeratosis
syndrome, lethal form
2 Cases
1144
Arthrogryposis-like hand
anomaly-sensorineural deafness
syndrome
1 Family
1149
Arthrogryposis-like syndrome
8 Families
2697
Arthrogryposis-renal
dysfunction-cholestasis
syndrome
100 Cases
1253
Ascher syndrome
50 Cases
85175
Astley-Kendall dysplasia
5 Cases
251679
Astroblastoma
0.02 I *
94
Astrocytoma
2.5 P *
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
94
Astrocytoma
8.0 I *
96
Ataxia with vitamin E deficiency
0.33 P *
1188
Ataxia-deafness-intellectual
disability syndrome
8 Cases
370022
Ataxia-intellectual disability-
oculomotor apraxia-cerebellar
cysts syndrome
7 Cases
459033
Ataxia-oculomotor apraxia type
4
11 Cases
1184
Ataxia-photosensitivity-short
stature syndrome
2 Cases
100
Ataxia-telangiectasia
0.49 P *
1190
Atelosteogenesis type I
12 Cases
56304
Atelosteogenesis type II
25 Cases
56305
Atelosteogenesis type III
25 Cases
69739
Athabaskan brainstem
dysgenesis syndrome
13 Cases
1192
Atherosclerosis-deafness-
diabetes-epilepsy-nephropathy
syndrome
2 Cases
95713
Athyreosis
3.5 P *
1193
Atkin-Flaitz syndrome
14 Cases
163934
Atopic keratoconjunctivitis
15.0 P *
1201
Atresia of small intestine
16.0 BP *
1479
Atrial septal defect-
atrioventricular conduction
defects syndrome
11 Cases
844
Atrial tachyarrhythmia with
short PR interval
12 Cases
352723
Attenuated Chédiak-Higashi
syndrome
100 Cases
1456
Atypical coarctation of aorta
0.17 BP *
314721
Atypical dentin dysplasia due to
SMOC2 deficiency
4 Cases
289863
Atypical glycine
encephalopathy
20 Cases
2134
Atypical hemolytic-uremic
syndrome
1.0 P *
357008
Atypical hemolytic-uremic
syndrome with DGKE deficiency
13 Cases
238523
Atypical hypotonia-cystinuria
syndrome
2 Cases
391411
Atypical juvenile parkinsonism
6 Families
86797
Atypical lichen myxedematosus
20 Cases
314466
Atypical Meigs syndrome
9 Cases
77300
Auricular abnormalities-cleft lip
with or without cleft palate-
ocular abnormalities syndrome
2 Cases
137888
Auriculocondylar syndrome
50 Cases
71270
Auriculoocular anomalies-cleft
lip syndrome
2 Cases
114
Auriculoosteodysplasia
2 Families
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - November 2016 - Number 1
http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf
9
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
352490
Autism spectrum disorder due
to AUTS2 deficiency
7 Cases
370943
Autism spectrum disorder-
epilepsy-arthrogryposis
syndrome
8 Cases
308410
Autism-epilepsy syndrome due
to branched chain ketoacid
dehydrogenase kinase
deficiency
5 Families
137911
Autism-facial port-wine stain
syndrome
4 Cases
324636
Autoerythrocyte sensitization
syndrome
170 Cases
420789
Autoimmune encephalopathy
with parasomnia and
obstructive sleep apnea
10 Cases
391487
Autoimmune enteropathy and
endocrinopathy-susceptibility to
chronic infections syndrome
5 Cases
98375
Autoimmune hemolytic anemia
2.02 I *
444463
Autoimmune hemolytic
anemia-autoimmune
thrombocytopenia-primary
immunodeficiency syndrome
6 Cases
444092
Autoimmune interstitial lung
disease-arthritis syndrome
5 Families
3261
Autoimmune
lymphoproliferative syndrome
500 Cases
436159
Autoimmune
lymphoproliferative syndrome
due to CTLA4 haploinsuffiency
17 Cases
275517
Autoimmune
lymphoproliferative syndrome
with recurrent viral infections
1 Family
206569
Autoimmune necrotizing
myopathy
300 Cases
747
Autoimmune pulmonary
alveolar proteinosis
0.5 P
747
Autoimmune pulmonary
alveolar proteinosis
0.04 I
324530
Autoinflammation-PLCG2-
associated antibody deficiency-
immune dysregulation
2 Cases
329173
Autoinflammatory syndrome
with pyogenic bacterial
infection and amylopectinosis
3 Cases
33110
Autosomal
agammaglobulinemia
100 Cases
314399
Autosomal dominant aplasia
and myelodysplasia
6 Cases
99
Autosomal dominant cerebellar
ataxia
2.7 P
314404
Autosomal dominant cerebellar
ataxia, deafness and narcolepsy
24 Cases
435819
Autosomal dominant Charcot-
Marie-Tooth disease type 2 due
to TFG mutation
2 Cases
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
435387
Autosomal dominant Charcot-
Marie-Tooth disease type 2 due
to VCP mutation
7 Cases
401964
Autosomal dominant Charcot-
Marie-Tooth disease type 2 with
giant axons
2 Families
99946
Autosomal dominant Charcot-
Marie-Tooth disease type 2A1
1 Family
99938
Autosomal dominant Charcot-
Marie-Tooth disease type 2D
44 Cases
99940
Autosomal dominant Charcot-
Marie-Tooth disease type 2F
5 Families
99941
Autosomal dominant Charcot-
Marie-Tooth disease type 2G
1 Family
99944
Autosomal dominant Charcot-
Marie-Tooth disease type 2K
30 Cases
99945
Autosomal dominant Charcot-
Marie-Tooth disease type 2L
1 Family
228179
Autosomal dominant Charcot-
Marie-Tooth disease type 2M
20 Cases
228174
Autosomal dominant Charcot-
Marie-Tooth disease type 2N
28 Cases
329258
Autosomal dominant Charcot-
Marie-Tooth disease type 2Q
8 Cases
397735
Autosomal dominant Charcot-
Marie-Tooth disease type 2U
2 Cases
447964
Autosomal dominant Charcot-
Marie-Tooth disease type 2V
21 Cases
363454
Autosomal dominant
childhood-onset proximal spinal
muscular atrophy with
contractures
25 Cases
447753
Autosomal dominant complex
spastic paraplegia type 9A
2 Families
447757
Autosomal dominant complex
spastic paraplegia type 9B
3 Families
90348
Autosomal dominant cutis laxa
50 Cases
79499
Autosomal dominant deafness-
onychodystrophy syndrome
22 Cases
73229
Autosomal dominant familial
hematuria-retinal arteriolar
tortuosity-contractures
syndrome
6 Families
329466
Autosomal dominant focal
dystonia, DYT25
28 Cases
402003
Autosomal dominant focal non-
epidermolytic palmoplantar
keratoderma with plantar
blistering
21 Cases
2314
Autosomal dominant hyper-IgE
syndrome
0.1 I *
1810
Autosomal dominant
hypohidrotic ectodermal
dysplasia
40 Cases
89937
Autosomal dominant
hypophosphatemic rickets
100 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - November 2016 - Number 1
http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf
10
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
457193
Autosomal dominant
intellectual disability-
craniofacial anomalies-cardiac
defects syndrome
10 Cases
100043
Autosomal dominant
intermediate Charcot-Marie-
Tooth disease type A
20 Cases
100044
Autosomal dominant
intermediate Charcot-Marie-
Tooth disease type B
37 Cases
100045
Autosomal dominant
intermediate Charcot-Marie-
Tooth disease type C
35 Cases
100046
Autosomal dominant
intermediate Charcot-Marie-
Tooth disease type D
12 Cases
93114
Autosomal dominant
intermediate Charcot-Marie-
Tooth disease type E
21 Cases
352670
Autosomal dominant
intermediate Charcot-Marie-
Tooth disease type F
8 Cases
324585
Autosomal dominant
intermediate Charcot-Marie-
Tooth disease with neuropathic
pain
9 Cases
503
Autosomal dominant Larsen
syndrome
0.4 BP *
266
Autosomal dominant limb-
girdle muscular dystrophy type
1A
4 Families
34516
Autosomal dominant limb-
girdle muscular dystrophy type
1D
6 Families
34517
Autosomal dominant limb-
girdle muscular dystrophy type
1E
20 Families
55595
Autosomal dominant limb-
girdle muscular dystrophy type
1F
64 Cases
55596
Autosomal dominant limb-
girdle muscular dystrophy type
1G
2 Families
238755
Autosomal dominant limb-
girdle muscular dystrophy type
1H
11 Cases
140957
Autosomal dominant
macrothrombocytopenia
100 Cases
34149
Autosomal dominant medullary
cystic kidney disease with or
without hyperuricemia
0.11 P *
319581
Autosomal dominant
mendelian susceptibility to
mycobacterial diseases due to
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