leukoencephalopathy
54 Cases
254343
Autosomal recessive spastic
ataxia-optic atrophy-dysarthria
syndrome
6 Cases
100995
Autosomal recessive spastic
paraplegia type 14
1 Family
100996
Autosomal recessive spastic
paraplegia type 15
10 Families
209951
Autosomal recessive spastic
paraplegia type 18
9 Cases
101000
Autosomal recessive spastic
paraplegia type 20
29 Cases
101001
Autosomal recessive spastic
paraplegia type 21
35 Cases
101003
Autosomal recessive spastic
paraplegia type 23
5 Families
101004
Autosomal recessive spastic
paraplegia type 24
1 Family
101005
Autosomal recessive spastic
paraplegia type 25
1 Family
101006
Autosomal recessive spastic
paraplegia type 26
10 Families
101007
Autosomal recessive spastic
paraplegia type 27
10 Cases
101008
Autosomal recessive spastic
paraplegia type 28
6 Cases
171622
Autosomal recessive spastic
paraplegia type 32
1 Family
171629
Autosomal recessive spastic
paraplegia type 35
38 Cases
139480
Autosomal recessive spastic
paraplegia type 39
2 Families
320370
Autosomal recessive spastic
paraplegia type 43
2 Cases
320401
Autosomal recessive spastic
paraplegia type 44
3 Cases
320396
Autosomal recessive spastic
paraplegia type 45
5 Families
320391
Autosomal recessive spastic
paraplegia type 46
5 Cases
306511
Autosomal recessive spastic
paraplegia type 48
2 Cases
320385
Autosomal recessive spastic
paraplegia type 49
5 Cases
319199
Autosomal recessive spastic
paraplegia type 53
9 Cases
320380
Autosomal recessive spastic
paraplegia type 54
6 Families
320375
Autosomal recessive spastic
paraplegia type 55
14 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
13
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
320411
Autosomal recessive spastic
paraplegia type 56
5 Families
431329
Autosomal recessive spastic
paraplegia type 57
2 Cases
397946
Autosomal recessive spastic
paraplegia type 58
2 Cases
401795
Autosomal recessive spastic
paraplegia type 59
3 Cases
401800
Autosomal recessive spastic
paraplegia type 60
1 Case
401780
Autosomal recessive spastic
paraplegia type 61
4 Cases
401785
Autosomal recessive spastic
paraplegia type 62
7 Cases
401805
Autosomal recessive spastic
paraplegia type 63
2 Cases
401810
Autosomal recessive spastic
paraplegia type 64
4 Cases
401815
Autosomal recessive spastic
paraplegia type 66
2 Cases
401820
Autosomal recessive spastic
paraplegia type 67
2 Cases
401825
Autosomal recessive spastic
paraplegia type 68
1 Case
401830
Autosomal recessive spastic
paraplegia type 69
2 Cases
401835
Autosomal recessive spastic
paraplegia type 70
4 Cases
401840
Autosomal recessive spastic
paraplegia type 71
1 Case
459056
Autosomal recessive spastic
paraplegia type 75
5 Cases
401979
Autosomal recessive
spondylometaphyseal dysplasia,
Mégarbané type
4 Cases
250984
Autosomal recessive Stickler
syndrome
4 Cases
300345
Autosomal recessive systemic
lupus erythematosus
7 Families
280365
Autosomal semi-dominant
severe lipodystrophic
laminopathy
7 Cases
101010
Autosomal spastic paraplegia
type 30
3 Families
401849
Autosomal spastic paraplegia
type 72
14 Cases
454836
Avian influenza
826 Cases
782
Axenfeld-Rieger syndrome
0.5 P *
168549
Axial spondylometaphyseal
dysplasia
13 Cases
401911
AXIN2-related attenuated
familial adenomatous polyposis
4 Families
79332
B4GALT1-CDG
2 Cases
67038
B-cell chronic lymphocytic
leukemia
48.0 P *
36234
Bacterial toxic-shock syndrome
3.0 P
93395
Ballard syndrome
12 Cases
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
1225
Baller-Gerold syndrome
30 Cases
1226
Bamforth-Lazarus syndrome
8 Cases
1227
Bangstad syndrome
2 Cases
1228
Banki syndrome
1 Family
2995
Baraitser-Winter syndrome
30 Cases
1231
Barber-Say syndrome
11 Cases
110
Bardet-Biedl syndrome
0.7 P *
110
Bardet-Biedl syndrome
0.5 BP *
111
Barth syndrome
0.22 P *
1234
Bartsocas-Papas syndrome
24 Cases
112
Bartter syndrome
0.1 I *
100976
Bathing suit ichthyosis
20 Cases
166113
Bazex syndrome
145 Cases
113
Bazex-Dupré-Christol syndrome
143 Cases
98895
Becker muscular dystrophy
1.53 P
98895
Becker muscular dystrophy
2.2 BP *
116
Beckwith-Wiedemann
syndrome
3.5 BP *
1237
Beemer-Ertbruggen syndrome
2 Cases
1241
Bencze syndrome
2 Families
251287
Benign concentric annular
macular dystrophy
27 Cases
71269
Benign exophthalmos
syndrome
4 Cases
1949
Benign familial neonatal
epilepsy
100 Families
140927
Benign familial neonatal-
infantile seizures
10 Families
209973
Benign familial nocturnal
alternating hemiplegia of
childhood
12 Cases
166308
Benign infantile focal epilepsy
with midline spikes and wave
during sleep
36 Cases
71518
Benign paroxysmal torticollis of
infancy
50 Cases
324581
Benign Samaritan congenital
myopathy
4 Cases
252164
Benign schwannoma
6.0 P *
528
Berardinelli-Seip congenital
lipodystrophy
0.5 P *
274
Bernard-Soulier syndrome
100 Cases
118
Beta-mannosidosis
0.14 BP *
329284
Beta-propeller protein-
associated neurodegeneration
54 Cases
848
Beta-thalassemia
1.0 I
65287
Beta-ureidopropionase
deficiency
5 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
14
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
69736
Bilateral acute depigmentation
of the iris
5 Cases
140963
Bilateral microtia-deafness-
cleft palate syndrome
2 Families
1980
Bilateral striopallidodentate
calcinosis
200 Cases
30391
Biliary atresia
18.5 BP
79241
Biotinidase deficiency
1.6 P *
79241
Biotinidase deficiency
1.6 BP
2617
Bird headed-dwarfism,
Montreal type
3 Cases
179
Birdshot chorioretinopathy
0.35 P
122
Birt-Hogg-Dubé syndrome
0.5 P *
123
Björnstad syndrome
33 Cases
124
Blackfan-Diamond anemia
0.67 BP *
93930
Bladder exstrophy
3.05 BP
73271
Bleeding diathesis due to a
collagen receptor defect
20 Cases
420566
Bleeding disorder due to
CalDAG-GEFI deficiency
3 Cases
1997
Blepharo-cheilo-odontic
syndrome
50 Cases
1252
Blepharonasofacial
malformation syndrome
3 Families
126
Blepharophimosis-epicanthus
inversus-ptosis syndrome
2.0 P
293642
Blepharophimosis-intellectual
disability syndrome
58 Cases
329255
Blepharophimosis-intellectual
disability syndrome due to
UBE3B deficiency
4 Cases
2728
Blepharophimosis-intellectual
disability syndrome, Ohdo type
30 Cases
3047
Blepharophimosis-intellectual
disability syndrome, SBBYS type
20 Cases
2057
Blepharophimosis-ptosis-
esotropia-syndactyly-short
stature syndrome
6 Cases
1259
Blepharoptosis-myopia-ectopia
lentis syndrome
3 Cases
171844
Blindness-scoliosis-
arachnodactyly syndrome
4 Cases
50945
Blomstrand lethal
chondrodysplasia
13 Cases
125
Bloom syndrome
400 Cases
16
Blue cone monochromatism
1.0 P
16
Blue cone monochromatism
1.0 BP
1059
Blue rubber bleb nevus
200 Cases
217266
BNAR syndrome
9 Families
91135
Body skin hyperlaxity due to
vitamin K-dependent
coagulation factor deficiency
10 Cases
97297
Bohring-Opitz syndrome
30 Cases
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
1842
Bone dysplasia, lethal
Holmgren type
7 Cases
223727
Bone sarcoma
9.29 P *
223727
Bone sarcoma
0.8 I *
1261
Bonnemann-Meinecke-Reich
syndrome
4 Cases
1262
Böök syndrome
26 Cases
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