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Rare diseases



The rare disease database of the Swedish National Board of Health and Welfare provides detailed information on rare diseases and conditions. The information is produced in collaboration with leading medical specialists and associations for patients and their families.

In Sweden, a disease or disorder is defined as rare when it affects no more than 100 individuals per million population and leads to a marked degree of disability. Currently, over 300 diagnoses are described in the database. Every description includes information on occurrence, cause, heredity, symptoms, diagnosis, treatment, resources, patient associations, research and medical references. The information is updated on a regular basis and further diagnoses are frequently added.

The database provides information on a large number of rare diseases but should not be regarded as fully comprehensive. If you cannot find the diagnosis you are looking for on our site, Orphanet, an international reference portal on rare diseases, may provide the information you are seeking.


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Diagnosis Synonyms
11q deletion syndrome Jacobsen syndrome
13q deletion syndrome Monosomy 13q syndrome
1p36 deletion syndrome Partial monosomy 1p36 syndrome
22q11 deletion syndrome DiGeorge syndrome, Velocardiofacial syndrome, VCFS, CATCH 22
5p deletion syndrome  
Aarskog syndrome Faciogenital syndrome, Faciodigitogenital syndrome
AB variant of GM2 gangliosidosis  
Achondroplasia --
Acid maltase deficiency  
Acrocephalosyndactyly type 1  
Acrocephalosyndaktyly type III  
Activator protein deficiency  
Acute intermittent porphyria AIP
Addison's disease Primary adrenal insufficiency
AGU  
Aicardi syndrome --
AIP  
AIS  
Alagille syndrome Arteriohepatic dysplasia
Albers-Schönberg disease  
Alexander disease --
Alfa-L-iduronidase deficiency  
Alpha-galactosidase A deficiency  
Alport syndrome --
ALPS  
ALS  
Alström syndrome Alström-Hallgren syndrome
Alström-Hallgren syndrome  
Amyotrophic lateral sclerosis ALS, Progressive spinal muscular atrophy, Progressive bulbar palsy, Pseudobulbar palsy, Primary lateral sclerosis, Motor neurone disease
Anderson-Fabry disease  
Androgen insensitivity syndrome AIS, Androgen resistance syndrome, Testicular feminisation syndrome
Androgen resistance syndrome  
Angelman syndrome --
Angiokeratoma corporis diffusum  
Angioosteohypertrophy syndrome  
Anhidrotic ectodermal dysplasia  
Aniridia  
Apert syndrome Acrocephalosyndactyly type 1
Argininosuccinate lyase deficiency ASL deficiency
Arteriohepatic dysplasia  
ASL deficiency  
Aspartylglucosaminuria AGU
AT  
Ataxia telangiectasia AT, Louis–Bar syndrome
Autoimmune lymphoproliferative syndrome ALPS, Canale-Smith syndrome
Axenfeld anomaly  
Axenfeld-Rieger syndrome Axenfeld anomaly, Rieger anomaly
Bardet-Biedl syndrome BBS, Laurence-Moon-Bardet-Biedl syndrome, LMBBS
Bartter syndrome  
Bartter syndrome and Gitelman syndrome Primary renal tubular hypokalemic alkalosis, Hyperprostaglandin E syndrome, Familial hypokalemia-hypomagnesemia
BBS  
Becker muscular dystrophy BMD
Becker myotonia  
Behçet disease --
Benign essential blepharospasm  
Best vitelliform macular dystrophy --
BFLS  
Blackfan Diamond anaemia  
Bladder exstrophy --
Blepharospasm Benign essential blepharospasm
BMD  
Bourneville disease  
Brachmann-de Lange syndrome  
Bruton disease/agammaglobulinemia  
BVMD  
Börjeson-Forssman-Lehmann syndrome BFLS
CADASIL Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Canale-Smith syndrome  
Cardiocutaneous syndrome  
Cardiofaciocutaneous syndrome CFC
Cat eye syndrome --
CATCH 22  
CCHS  
Central core disease --
Centronuclear myopathy Myotubular myopathy
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy  
Cerebral gigantism  
CF  
CFC  
CHARGE association  
CHARGE syndrome CHARGE association
Chondroectodermal dysplasia  
Christ-Siemens-Touraine syndrome  
Chromosome 1, 1p36 deletion syndrome  
Chromosome 1, Monosomy 1p36  
Chromosome 13, 13q deletion syndrome  
Chromosome 13, Monosomy 13q syndrome  
Chromosome 22, 22q11 deletion syndrome  
Chromosome 22, CATCH 22  
Chromosome 5, 5p deletion syndrome  
Chronic inflammatory demyelinating polyneuropathy  
Churg-Strauss syndrome --
CIDP Chronic inflammatory demyelinating polyneuropathy
CJD  
Cockayne syndrome --
Coffin-Lowry syndrome --
Comel-Netherton syndrome  
Common variable immunodeficiency CVID, Hypogammaglobulinaemia
Congenital aniridia Aniridia
Congenital bilateral perisylvian syndrome  
Congenital brittle bone disease  
Congenital central hypoventilation syndrome CCHS
Congenital dystrophia myotonica  
Congenital hypoplastic anaemia  
Congenital insensitivity to pain  
Congenital myasthenia --
Congenital myotonia  
Congenital spondyloepiphyseal dysplasia Spondyloepiphyseal dysplasia congenita
Cornelia de Lange syndrome Brachmann-de Lange syndrome, de Lange syndrome
Costello syndrome Faciocutaneoskeletal syndrome, FCS syndrome
Creutzfeldt-Jakob disease CJD
Cri du chat syndrome 5p deletion syndrome
Crouzon syndrome --
CVID  
Cystic fibrosis CF, Cystic fibrosis of the pancreas, Mucoviscidosis
Cystic fibrosis of the pancreas  
Cystinosis --
Danon disease Lysosomal-associated membrane protein 2, LAMP2
Darier disease Keratosis follicularis
DBA  
de Lange syndrome  
Dermatomyositis --
Devic disease  
Diamond Blackfan anaemia DBA, Blackfan Diamond anaemia, Congenital hypoplastic anaemia
Diastrophic dysplasia  
DiGeorge syndrome  
DMD  
DOCK8 deficiency DOCK8 deficiency
DOCK8 deficiency  
Duchenne muscular dystrophy DMD
Duplication 17p11.2 syndrome  
Dyskeratosis congenita Hoyeraal-Hreidarsson syndrome
Dystrophia myotonica type 1  
Dystrophia myotonica type 2  
Eagle-Barrett syndrome  
Early-onset retinitis pigmentosa  
EB  
Ectodermal dysplasia  
EDMD  
EDMD2  
Edwards syndrome  
Ellis-van Creveld syndrome and Weyers acrofacial dysostosis Chondroectodermal dysplasia
Emery-Dreifuss muscular dystrophy EDMD, XL-EDMD, EDMD2
Encephalotrigeminal angiomatosis  
Epidermolysis bullosa EB
Epidermolytic (bullous) ichthyosis  
Erythropoietic protoporphyria Porphyria, erythropoietic protoporphyria, Inherited ferrochelatase deficiency
Eulenburg disease  
Fabry disease Anderson-Fabry disease, Alpha-galactosidase A deficiency, Angiokeratoma corporis diffusum
Faciocutaneoskeletal syndrome  
Faciodigitogenital syndrome  
Faciogenital syndrome  
Facioscapulohumeral muscular dystrophy FSHD
FAH deficiency  
Familial amyloid neuropathy type IV  
Familial hypocalcaemia with hypercalciuria  
Familial hypokalemia-hypomagnesemia  
Familial isolated hypoparathyroidism  
Fanconi anaemia --
FCS syndrome  
Floating Harbor syndrome Pelletier-Leisti syndrome
Foix-Chavany-Marie syndrome  
Franceschetti-Klein syndrome  
FRDA  
Friedreich ataxia FRDA
FSHD  
Fumarylacetoacetase deficiency  
Galactosaemia --
Gaucher disease Morbus Gaucher
Gelsolin amyloidosis Familial amyloid neuropathy type IV, Meretoja syndrome, Hereditary amyloidosis, Finnish type
Gillespie syndrome --
Gitelman syndrome  
GLD  
Globoid cell leukodystrophy  
Glucose transporter type 1 deficiency syndrome GLUT1 deficiency syndrome
GLUT1 deficiency syndrome  
Glutaric acidemia type 1  
Glutaric aciduria type 1 Glutaric acidaemia type 1, Glutaryl-coenzyme A dehydrogenase deficiency
Glutaryl-coenzyme A dehydrogenase deficiency  
Glycogenosis type II  
Glycogenosis type V  
Glycogenosis type VII  
GM2 gangliosidoses Hexosaminidase A deficiency, Tay-Sachs disease, Hexosaminidase B deficiency, Sandhoff disease, Activator protein deficiency, AB variant
Goldenhar syndrome Oculo-auriculo-vertebral spectrum, OAVS, Hemifacial microsomia
Goodpasture disease --
HAE  
Hemifacial microsomia  
Hepatolenticular degeneration  
Hepatorenal tyrosinemia  
Hereditary amyloidosis, Finnish type  
Hereditary angioedema HAE
Hereditary neuropathy with compression neuropathies  
Hereditary neuropathy with liability to pressure palsies HNPP, Hereditary neuropathy with compression neuropathies
Hereditary sensory and autonomic neuropathy type V HSAN V, Congenital insensitivity to pain
Heredopathia atactica polyneuritiformis  
Hexosaminidase A deficiency  
Hexosaminidase B deficiency  
HIES  
HNPP  
Homocystinuria --
Hoyeraal-Hreidarssons syndrome  
HSAN V  
HT1  
Hunter syndrome Mucopolysaccharidosis type II, MPS II, Iduronate sulfatase deficiency
Huntington chorea  
Huntington disease Huntington chorea, Juvenile Huntington disease
Hurler, Hurler-Scheie and Scheie syndromes Mucopolysaccharidosis type I (IH, IH/S, IS); MPS I (IH, IH/S, IS), Alfa-L-iduronidase deficiency
Hyper IgE syndrome Job disease, Hyperimmunoglobulin E syndrome, HIES, DOCK8 deficiency
Hyperimmunoglobulin E syndrome  
Hyperkalemic periodic paralysis and Paramyotonia congenita HyperPP, Eulenburg disease
HyperPP  
Hyperprostaglandin E syndrome  
Hypogammaglobulinaemia  
Hypohidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia, Ectodermal dysplasia, Christ-Siemens-Touraine syndrome
Hypoparathyroidism Familial isolated hypoparathyroidism, X-linked recessive hypoparathyroidism, Familial hypocalcaemia with hypercalciuria
Ichthyosis, congenital Lamellar ichthyosis, Epidermolytic (bullous) ichthyosis
Idic (15) syndrome  
Iduronate sulfatase deficiency  
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked  
Inherited ferrochelatase deficiency  
IPEX syndrome Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; IPEX-like syndrom
IPEX-like syndrome  
Isaacs syndrome --
Isochromosome 12p syndrome  
Isochromosome 18p syndrome Tetrasomy 18p
Isodicentric 15 syndrome  
Jacobsen syndrome  
Jervell and Lange-Nielsen syndrome JLNS, Surdo-cardiac syndrome, Long QT syndrome, LQTS
JLNS  
Job disease  
Juvenile Huntington disease  
Kabuki makeup syndrome  
Kabuki syndrome Kabuki makeup syndrome, Niikawa-Kuroki syndrome
Kennedy disease Spinal bulbar muscular atrophy, X-linked; SBMA
Keratosis follicularis  
Klippel-Trenaunay syndrome --
Kostmann disease  
Krabbe disease Globoid cell leukodystrophy, GLD
Lamellar ichthyosis  
LAMP2  
Langer-Giedion syndrome  
Late-onset spondyloepiphyseal dysplasia Spondyloepiphyseal dysplasia tarda
Laurence-Moon-Bardet-Biedl syndrome  
LCA  
LCHAD deficiency Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Leber congenital amaurosis LCA, Early-onset retinitis pigmentosa
LEOPARD syndrome Noonan syndrome with muliple lentigines, Cardiocutaneous syndrome
Lesch-Nyhan syndrome --
LGMD  
Limb-girdle muscular dystrophy LGMD
LMBBS  
Long QT syndrome  
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency  
Louis-Bar syndrome  
LPI  
LQTS  
Lysinuric protein intolerance LPI
Lysosomal-associated membrane protein 2  
Machado-Joseph disease/SCA3  
Malignant hyperthermia --
Mandibulofacial dysostosis  
Maple syrup urine disease MSUD
Marble bone disease  
Marfan syndrome --
Marker chromosome 15 syndrome Idic (15) syndrome, Isodicentric 15 syndrome
McArdle disease Glycogenosis type V, Myophosphorylase deficiency
McCune-Albright syndrome --
MCPH  
MED  
Meretoja syndrome  
MGUS polyneuropathy  
Microcephaly vera  
MMN  
Moebius syndrome  
Mohr syndrome (OFD II)  
Monosomy 13q syndrome  
Morbus Gaucher  
Motor neurone disease  
Mowat-Wilson syndrome --
Moyamoya Progressive cerebral arterial occlusive disease
MPS I (IH, IH/S, IS)  
MPS II  
MPS III  
MSUD  
Mucopolysaccharidosis type I (IH, IH/S, IS)  
Mucopolysaccharidosis type II  
Mucopolysaccharidosis type III  
Multifocal motor neuropathy MMN
Multiple epiphyseal dysplasia MED
Muscoviscidosis  
Myophosphorylase deficiency  
Myotonia congenita Congenital myotonia, Thomsen disease, Becker myotonia
Myotonic dystrophy Steinert disease, Dystrophia myotonica type 1, Congenital dystrophia myotonica, Dystrophia myotonica type 2, Proximal myotonic myopathy, PROMM
Myotubular myopathy  
Möbius sequence  
Möbius syndrome Moebius syndrome, Möbius sequence
Nemaline myopathy --
Netherton syndrome Comel-Netherton syndrome
Neuromyelitis optica NMO, Devic disease
Neuromyotonia  
Niikawa-Kuroki syndrome  
NMO  
Noonan syndrome --
Noonan syndrome with muliple lentigines  
OAVS  
Oculo-auriculo-vertebral spectrum  
OFD I and II  
OI  
ONH  
ONH syndrome  
Opercular syndrome  
Optic nerve hypoplasia ONH, ONH syndrome, Septo-optic dysplasia
Orofaciodigital syndromes I and II Orol-facial-digital syndromes I and II, OFD I and II, Papillon-Léage-Psaume syndrome (OFD I), Mohr syndrome (OFD II)
Orol-facial-digital syndromes I and II  
Osteogenesis imperfecta OI, Congenital brittle bone disease
Osteopetrosis Albers-Schönberg disease, Marble bone disease
Pachyonychia congenita PC
Pallister-Killian syndrome Isochromosome 12p syndrome, Tetrasomy 12p syndrome
PAN  
Papillon-Léage-Psaume syndrome (OFD I)  
Paramyotonia congenita  
Paroxysmal nocturnal haemoglobinuria PNH
Partial monosomy 1p36 syndrome  
PC  
Pelizaeus-Merzbacher disease PMD
Pelletier-Leisti syndrome  
Perisylvian syndrome Congenital bilateral perisylvian syndrome, Opercular syndrome, Foix-Chavany-Marie syndrome, Worster-Drought syndrome
Pfeiffer syndrome --
Phenylketonuria PKU
Phosphofructokinase deficiency  
PKU  
PMD  
PNH  
Polyarteritis nodosa PAN
Polymyositis --
Polyneuropathy associated with an M component MGUS polyneuropathy
Pompe disease Glycogen storage disease type II, Glycogenosis type II, Acid maltase deficiency
Porphyria, acute intermittent porphyria  
Porphyria, erythropoietic protoporphyria  
Potocki-Lupski syndrome Duplication 17p11.2 syndrome
Prader-Willi syndrome PWS
Primary adrenal insufficiency  
Primary lateral sclerosis  
Primary microcephaly Primary microcephaly (autosomal recessive), Microcephaly vera, MCPH
Primary microcephaly (autosomal recessive)  
Primary renal tubular hypokalemic alkalosis  
Progressive bulbar palsy  
Progressive cerebral arterial occlusive disease  
Progressive spinal muscular atrophy  
PROMM  
Proximal myotonic myopathy,  
Prune belly syndrome Eagle-Barrett syndrome
Pseudoachondroplasia --
Pseudobulbar palsy  
Pseudoxanthoma elasticum PXE
PWS  
PXE  
Refsum disease Heredopathia atactica polyneuritiformis
Retinoblastoma --
Rett syndrome --
Rieger anomaly  
Rubinstein-Taybi syndrome --
Russell-Silver syndrome  
Saethre-Chotzen syndrome Acrocephalosyndaktyly type III
Sandhoff disease  
Sanfilippo syndrome Mucopolysaccharidosis type III, MPS III
SBMA  
SCA  
SCA1  
SCA2  
SCA3/Machado-Joseph disease  
SCA6  
SCA7  
SCA8  
SCID  
SCN  
SDS  
Septo-optic dysplasia  
Severe combined immunodeficiency SCID
Severe congenital neutropenia SCN, Kostmann disease
Sex-linked agammaglobulinemia  
Sex-linked gammaglobulin deficiency  
Shwachman Diamond syndrome  
Shwachman syndrome Shwachman-Diamond syndrome, SDS
Sickle cell anaemia --
Silver-Russell syndrome Russell-Silver syndrome
SLO syndrome  
SLOS  
Smith-Lemli-Opitz syndrome SLOS, SLO syndrome
Sotos syndrome Cerebral gigantism
Spinal bulbar muscular atrophy, X-linked  
Spinocerebellar ataxia, dominantly inherited forms SCA, SCA1, SCA2, SCA3/Machado-Joseph disease, Machado-Joseph disease/SCA3, SCA6, SCA7, SCA8
Spondyloepiphyseal dysplasia congenita  
Spondyloepiphyseal dysplasia tarda  
SSADH deficiency  
Steinert disease  
Sturge-Weber syndrome SWS, Sturge-Weber-Dimitri syndrome, Encephalotrigeminal angiomatosis
Sturge-Weber-Dimitri syndrome  
Succinic semialdehyde dehydrogenase deficiency SSADH deficiency
Surdo-cardiac syndrome  
SWS  
Takayasu arteritis --
TAR syndrome --
Tarui disease Glycogenosis type VII, Phosphofructokinase deficiency
Tay-Sachs disease  
Testicular feminisation syndrome  
Tetrasomy 12p syndrome  
Tetrasomy 18p  
Thalassemia --
Thomsen disease  
Treacher Collins syndrome Mandibulofacial dysostosis, Franceschetti-Klein syndrome
Trichorhinophalangeal syndrome TRPS, Langer-Giedion syndrome
Trisomy 18 syndrome Edwards syndrome
TRPS  
TSC  
Tuberous sclerosis Tuberous sclerosis complex, TSC, Bourneville disease
Tuberous sclerosis complex  
Tyrosinemia type 1 Hepatorenal tyrosinemia, HT1, Fumarylacetoacetase deficiency, FAH deficiency
Usher syndrome --
VACTERL association VATER association
WAGR syndrome Wilms tumour, aniridia, genital abnormalities and retardation; WAGR
Warts, Hypogammaglobulinemia, Infections and Myelokathexis  
VATER association  
VCFS  
Velocardiofacial syndrome  
Weyers acrofacial dysostosis  
WHIM syndrome Warts, Hypogammaglobulinemia, Infections and Myelokathexis; Zuelzer-Krills syndrome
Williams syndrome Williams-Beuren syndrome
Williams-Beuren syndrome  
Wilms tumour, aniridia, genital abnormalities and retardation  
Wilson disease Hepatolenticular degeneration
Wiskott-Aldrich syndrome --
Worster-Drought syndrome  
XL-EDMD  
X-linked agammaglobulinemia Bruton disease/agammaglobulinemia, Sex-linked gammaglobulin deficiency, Sex-linked agammaglobulinemia
X-linked recessive hypoparathyroidism  
Zuelzer-Krills syndrome  

 

Figure: A leaflet about The Swedish Information Centre for Rare diseases

 

About the database

This knowledge database provides information on rare diseases and conditions. The information is not intended to be a substitute for professional medical care, nor is it intended to be used as a basis for diagnosis or treatment.