ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
94056
Humero-ulnar synostosis
5 Cases
97340
Hunter-McAlpine
craniosynostosis
10 Cases
399
Huntington disease
2.7 P
399
Huntington disease
0.38 I
98934
Huntington disease-like 2
50 Families
401901
Huntington disease-like
syndrome due to C9ORF72
expansions
10 Cases
93473
Hurler syndrome
0.5 P *
93473
Hurler syndrome
0.7 BP *
740
Hutchinson-Gilford progeria
syndrome
0.005 P
740
Hutchinson-Gilford progeria
syndrome
0.025 BP
2177
Hydranencephaly
10.0 BP
2182
Hydrocephalus with stenosis of
the aqueduct of Sylvius
1.7 P
2182
Hydrocephalus with stenosis of
the aqueduct of Sylvius
1.7 BP
2186
Hydrocephalus-blue sclerae-
nephropathy syndrome
1 Family
2180
Hydrocephalus-costovertebral
dysplasia-Sprengel anomaly
syndrome
8 Cases
2183
Hydrocephalus-obesity-
hypogonadism syndrome
2 Cases
2181
Hydrocephaly-tall stature-joint
laxity syndrome
2 Cases
401948
Hyperammonemic
encephalopathy due to carbonic
anhydrase VA deficiency
4 Cases
168588
Hyperandrogenism due to
cortisone reductase deficiency
11 Cases
276405
Hyperbiliverdinemia
2 Cases
209902
Hypercholesterolemia due to
cholesterol 7alpha-hydroxylase
deficiency
24 Cases
83639
Hypercoagulability syndrome
due to
glycosylphosphatidylinositol
deficiency
2 Families
163985
Hyperekplexia-epilepsy
syndrome
2 Cases
168956
Hypereosinophilic syndrome
1.5 P *
2410
Hypergonadotropic
hypogonadism-cataract
syndrome
3 Cases
343
Hyperimmunoglobulinemia D
with periodic fever
200 Cases
324575
Hyperinsulinism due to HNF1A
deficiency
2 Cases
263458
Hyperinsulinism due to INSR
deficiency
10 Cases
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
71212
Hyperinsulinism due to short
chain 3-hydroxylacyl-CoA
dehydrogenase deficiency
10 Cases
276556
Hyperinsulinism due to UCP2
deficiency
2 Cases
682
Hyperkalemic periodic paralysis
0.5 P *
1336
Hyperkeratosis-
hyperpigmentation syndrome
10 Cases
412
Hyperlipoproteinemia type 3
10.0 P
415
Hyperornithinemia-
hyperammonemia-
homocitrullinuria syndrome
12.0 P *
3416
Hyperostosis corticalis
generalisata
20 Cases
443098
Hyperostosis cranialis interna
13 Cases
99880
Hyperparathyroidism-jaw
tumor syndrome
100 Cases
238583
Hyperphenylalaninemia
0.2 P
247262
Hyperphosphatasia-intellectual
disability syndrome
24 Cases
157798
Hyperplastic polyposis
syndrome
1.0 I
1519
Hypertelorism, Teebi type
20 Cases
2211
Hypertelorism-hypospadias-
polysyndactyly syndrome
3 Families
2213
Hypertelorism-microtia-facial
clefting syndrome
9 Cases
293958
Hypertelorism-preauricular
sinus-punctual pits-deafness
syndrome
13 Cases
2220
Hypertrichosis cubiti-short
stature syndrome
28 Cases
2222
Hypertrichosis lanuginosa
congenita
100 Cases
966
Hypertrichosis-acromegaloid
facial appearance syndrome
20 Cases
1517
Hypertrichotic
osteochondrodysplasia, Cantu
type
40 Cases
324525
Hypertrophic cardiomyopathy
and renal tubular disease due to
mitochondrial DNA mutation
3 Cases
2224
Hypertryptophanemia
12 Cases
217330
Hyperuricemia-anemia-renal
failure syndrome
21 Cases
363694
Hyperuricemia-pulmonary
hypertension-renal failure-
alkalosis syndrome
4 Families
2435
Hypo- and hypermelanotic
cutaneous macules-retarded
growth-intellectual disability
syndrome
14 Cases
429
Hypochondroplasia
3.3 P *
36412
Hypocomplementemic
urticarial vasculitis
200 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
34
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
989
Hypoglossia-hypodactyly
syndrome
47 Cases
2233
Hypogonadism-mitral valve
prolapse-intellectual disability
syndrome
2 Cases
2230
Hypogonadotropic
hypogonadism-frontoparietal
alopecia syndrome
6 Cases
2235
Hypogonadotropic
hypogonadism-retinitis
pigmentosa syndrome
2 Cases
293967
Hypogonadotropic
hypogonadism-severe
microcephaly-sensorineural
hearing loss-dysmorphism
syndrome
4 Cases
363523
Hypohidrosis-enamel
hypoplasia-palmoplantar
keratoderma-intellectual
disability syndrome
12 Cases
238468
Hypohidrotic ectodermal
dysplasia
6.7 P *
98813
Hypohidrotic ectodermal
dysplasia with
immunodeficiency
0.2 BP *
1882
Hypohidrotic ectodermal
dysplasia-hypothyroidism-ciliary
dyskinesia syndrome
3 Cases
293964
Hypoinsulinemic hypoglycemia
and body hemihypertrophy
5 Cases
681
Hypokalemic periodic paralysis
1.0 P *
1790
Hypomandibular faciocranial
dysostosis
3 Cases
139441
Hypomyelination with atrophy
of basal ganglia and cerebellum
19 Cases
363412
Hypomyelination with brain
stem and spinal cord
involvement and leg spasticity
10 Cases
447893
Hypomyelination-cerebellar
atrophy-hypoplasia of the
corpus callosum syndrome
4 Cases
85163
Hypomyelination-congenital
cataract syndrome
10 Cases
88637
Hypomyelination-
hypogonadotropic
hypogonadism-hypodontia
syndrome
105 Cases
2237
Hypoparathyroidism-deafness-
renal disease syndrome
12 Cases
436
Hypophosphatasia
0.21 BP *
324561
Hypopigmentation-punctate
palmoplantar keratoderma
syndrome
6 Families
722
Hypoplasminogenemia
0.2 P *
2248
Hypoplastic left heart
syndrome
24.0 BP
293864
Hypoplastic pancreas-intestinal
atresia-hypoplastic gallbalder
syndrome
16 Cases
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
98723
Hypoplastic right heart
syndrome
3.3 BP *
2250
Hyposmia-nasal and ocular
hypoplasia-hypogonadotropic
hypogonadism syndrome
2 Cases
157788
Hypospadias-hypertelorism-
coloboma and deafness
syndrome
2 Cases
2261
Hypospadias-intellectual
disability, Goldblatt type
syndrome
3 Cases
137908
Hypotonia with lactic acidemia
and hyperammonemia
4 Cases
163690
Hypotonia-cystinuria syndrome
22 Cases
79507
Hypotonia-failure to thrive-
microcephaly syndrome
2 Cases
55654
Hypotrichosis simplex
38 Cases
1573
Hypotrichosis with juvenile
macular degeneration
50 Cases
330029
Hypotrichosis-deafness
syndrome
1 Case
2266
Hypotrichosis-intellectual
disability, Lopes type
2 Cases
69735
Hypotrichosis-lymphedema-
telangiectasia-renal defect
syndrome
4 Cases
254509
Iatrogenic botulism
180 Cases
2268
ICF syndrome
66 Cases
2273
Ichthyosis follicularis-alopecia-
photophobia syndrome
40 Cases
79503
Ichthyosis hystrix of Curth-
Macklin
6 Families
88621
Ichthyosis prematurity
syndrome
16 Families
2269
Ichthyosis-alopecia-eclabion-
ectropion-intellectual disability
syndrome
4 Cases
2274
Ichthyosis-
hepatosplenomegaly-cerebellar
degeneration syndrome
2 Cases
91132
Ichthyosis-hypotrichosis
syndrome
11 Cases
59303
Ichthyosis-hypotrichosis-
sclerosing cholangitis syndrome
12 Cases
2272
Ichthyosis-oral and digital
anomalies syndrome
2 Cases
363992
Ichthyosis-short stature-
brachydactyly-
microspherophakia syndrome
4 Cases
930
Idiopathic achalasia
8.0 P
930
Idiopathic achalasia
0.77 I
724
Idiopathic acute eosinophilic
pneumonia
100 Cases
139423
Idiopathic acute transverse
myelitis
0.25 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
35
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
422
Idiopathic and/or familial
pulmonary arterial
hypertension
1.0 P *
88
Idiopathic aplastic anemia
0.4 P *
33208
Idiopathic hypersomnia
30.0 P *
45452
Idiopathic neonatal atrial
flutter
1.5 BP *
275766
Idiopathic pulmonary arterial
hypertension
1.1 P *
2032
Idiopathic pulmonary fibrosis
11.5 P *
2032
Idiopathic pulmonary fibrosis
3.81 I *
99931
Idiopathic pulmonary
hemosiderosis
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