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
27
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
238475
Familial hypercholanemia
23 Cases
99764
Familial hyperreninemic
hypoaldosteronism type 2
5 Cases
424
Familial hyperthyroidism due to
mutations in TSH receptor
28 Families
93372
Familial hypocalciuric
hypercalcemia type 1
5.5 P
300373
Familial infantile gigantism
3 Cases
352582
Familial infantile myoclonic
epilepsy
7 Cases
2454
Familial intestinal malrotation-
facial anomalies syndrome
2 Cases
154
Familial isolated dilated
cardiomyopathy
17.5 P *
154
Familial isolated dilated
cardiomyopathy
2.91 I *
99879
Familial isolated
hyperparathyroidism
100 Families
2238
Familial isolated
hypoparathyroidism
10 Families
2239
Familial isolated
hypoparathyroidism due to
agenesis of parathyroid gland
2 Families
314777
Familial isolated pituitary
adenoma
150 Cases
75249
Familial isolated restrictive
cardiomyopathy
2.5 P *
79293
Familial LCAT deficiency
70 Cases
768
Familial long QT syndrome
40.0 BP *
401942
Familial median cleft of the
upper and lower lips
8 Cases
618
Familial melanoma
1.5 I *
165805
Familial mesial temporal lobe
epilepsy with febrile seizures
4 Cases
338
Familial multiple
fibrofolliculoma
7 Cases
922
Familial nasal acilia
8 Cases
280403
Familial omphalocele syndrome
with facial dysmorphism
5 Cases
569
Familial or sporadic hemiplegic
migraine
10.0 P *
97290
Familial papillary thyroid
carcinoma with renal papillary
neoplasia
2 Cases
98306
Familial partial lipodystrophy
2.0 P *
79084
Familial partial lipodystrophy,
Köbberling type
20 Cases
71290
Familial platelet syndrome with
predisposition to acute
myelogenous leukemia
20 Families
34526
Familial primary
hypomagnesemia
500 Cases
306516
Familial primary
hypomagnesemia with
hypercalciuria and
nephrocalcinosis
200 Cases
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
2196
Familial primary
hypomagnesemia with
hypercalciuria and
nephrocalcinosis with severe
ocular involvement
72 Cases
31043
Familial primary
hypomagnesemia with
hypercalciuria and
nephrocalcinosis without severe
ocular involvement
110 Cases
34527
Familial primary
hypomagnesemia with
normocalciuria and
normocalcemia
5 Families
871
Familial progressive cardiac
conduction defect
50 Cases
280628
Familial progressive hyper- and
hypopigmentation
3 Families
79147
Familial reactive perforating
collagenosis
50 Cases
231108
Familial rhabdoid tumor
5 Families
168624
Familial scaphocephaly
syndrome, McGillivray type
11 Cases
166282
Familial sick sinus syndrome
11 Cases
280406
Familial steroid-resistant
nephrotic syndrome with
sensorineural deafness
13 Cases
91387
Familial thoracic aortic
aneurysm and aortic dissection
22 Cases
93953
Familial thyroglossal duct cyst
22 Cases
95716
Familial thyroid
dyshormonogenesis
4.0 P *
95716
Familial thyroid
dyshormonogenesis
2.67 I
84
Fanconi anemia
0.3 P
84
Fanconi anemia
0.62 BP *
333
Farber disease
80 Cases
166105
FASTKD2-related infantile
mitochondrial
encephalomyopathy
2 Cases
439854
Fatal congenital hypertrophic
cardiomyopathy due to
glycogen storage disease
10 Cases
466
Fatal familial insomnia
27 Cases
280553
Fatal infantile hypertonic
myofibrillar myopathy
11 Cases
168566
Fatal mitochondrial disease due
to combined oxidative
phosphorylation deficiency 3
7 Cases
401869
Fatal multiple mitochondrial
dysfunctions syndrome type 1
21 Cases
401874
Fatal multiple mitochondrial
dysfunctions syndrome type 2
6 Cases
363424
Fatal multiple mitochondrial
dysfunctions syndrome type 3
2 Cases
457406
Fatal mutiple mitochondrial
dysfunctions syndrome type 4
8 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
28
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
391343
Fatal post-viral
neurodegenerative disorder
2 Cases
404451
FBLN1-related developmental
delay-central nervous system
anomaly-syndactyly syndrome
3 Cases
163703
Febrile infection-related
epilepsy syndrome
1.0 P *
1305
Feingold syndrome
123 Cases
391641
Feingold syndrome type 1
120 Cases
391646
Feingold syndrome type 2
3 Cases
404466
Female infertility due to zona
pellucida defect
4 Cases
101039
Female restricted epilepsy with
intellectual disability
5 Families
1988
Femoral-facial syndrome
62 Cases
2019
Femur-fibula-ulna complex
1.5 BP *
397922
Ferro-cerebro-cutaneous
syndrome
3 Cases
994
Fetal akinesia deformation
sequence
0.6 BP *
363409
Fetal akinesia-cerebral and
retinal hemorrhage syndrome
3 Cases
1915
Fetal alcohol syndrome
1.6 BP *
853
Fetal and neonatal alloimmune
thrombocytopenia
28.0 P *
853
Fetal and neonatal alloimmune
thrombocytopenia
112.5 BP *
294
Fetal cytomegalovirus
syndrome
40.0 P *
85212
Fetal Gaucher disease
50 Cases
1917
Fetal methylmercury syndrome
800 Cases
291
Fetal varicella syndrome
100 Cases
464724
Fever-associated acute infantile
liver failure syndrome
11 Cases
313855
FGFR2-related bent bone
dysplasia
4 Cases
2021
Fibrochondrogenesis
13 Cases
337
Fibrodysplasia ossificans
progressiva
0.05 P
84090
Fibronectin glomerulopathy
16 Families
2030
Fibrosarcoma
0.01 I *
1118
Fibular aplasia-ectrodactyly
syndrome
50 Cases
1757
Fibular dimelia-diplopodia
syndrome
11 Cases
93323
Fibular hemimelia
2.0 P *
2256
Fibulo-ulnar hypoplasia-renal
anomalies syndrome
2 Cases
3255
Filippi syndrome
32 Cases
1272
Fine-Lubinsky syndrome
9 Cases
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
369979
Finger hyperphalangy-toe
anomalies-severe pectus
excavatum syndrome
2 Cases
97232
Fingerprint body myopathy
20 Cases
79292
Fish-eye disease
30 Cases
293812
Fixed pigmented erythema
19 Cases
1968
Flat face-microstomia-ear
anomaly syndrome
2 Cases
98970
Fleck corneal dystrophy
30 Cases
2044
Floating-Harbor syndrome
87 Cases
2047
Flynn-Aird syndrome
10 Cases
2092
Focal dermal hypoplasia
300 Cases
352587
Focal epilepsy-intellectual
disability-cerebro-cerebellar
malformation
7 Cases
398166
Focal facial dermal dysplasia
147 Cases
79133
Focal facial dermal dysplasia
type I
81 Cases
398173
Focal facial dermal dysplasia
type II
22 Cases
1807
Focal facial dermal dysplasia
type III
20 Cases
398189
Focal facial dermal dysplasia
type IV
21 Cases
48918
Focal myositis
115 Cases
1866
Focal, segmental or multifocal
dystonia
11.7 P *
1866
Focal, segmental or multifocal
dystonia
2.0 I *
2048
Foix-Chavany-Marie syndrome
150 Cases
300552
Follicular cholangitis and
pancreatitis
5 Cases
545
Follicular lymphoma
28.0 P *
228371
Foodborne botulism
0.1 I *
3219
Fountain syndrome
8 Cases
397618
Foveal hypoplasia-optic nerve
decussation defect-anterior
segment dysgenesis syndrome
7 Families
2253
Foveal hypoplasia-presenile
cataract syndrome
11 Cases
908
Fragile X syndrome
32.5 P
908
Fragile X syndrome
2.4 BP *
137834
Frank-Ter Haar syndrome
5 Cases
2052
Fraser syndrome
0.2 BP *
347
Frasier syndrome
88 Cases
834
Free sialic acid storage disease
130 Cases
2053
Freeman-Sheldon syndrome
100 Cases
85335
Fried syndrome
1 Family
95
Friedreich ataxia
Dostları ilə paylaş: 
