GENETIC DISORDERS, DISEASES & CONDITIONS

Understand Genetics
Genetic Testing

A

22q11.2 deletion syndrome
21-hydroxylase deficiency
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic aciduria
47,XYY syndrome

Ataxia-telangiectasia
Achondrogenesis
Achondroplasia
Acute intermittent porphyria
Amelogenesis imperfecta
Androgen insensitivity syndrome
Alkaptonuria
ALAD deficiency porphyria
Alagille syndrome
Alexander disease
Alport syndrome
Alström syndrome
Amyotrophic lateral sclerosis
Andersen-Tawil syndrome
Angelman syndrome
Antiphospholipid Syndrome
Apert syndrome
Argininosuccinic aciduria
Angelman syndrome
Atelosteogenesis, type 2
Autoimmune Lymphoproliferative Syndrome

B

Beare-Stevenson cutis gyrata syndrome
Beta-ketothiolase deficiency
Beta thalassaemia
Biotinidase deficiency
Birt-Hogg-Dubé syndrome
Brugada syndrome

C

CADASIL
Canavan disease
Carnitine-acylcarnitine translocase deficiency
Carnitine palmitoyltransferase I deficiency
Carnitine palmitoyltransferase II deficiency
Cerebral cavernous malformation
Charcot-Marie-Tooth disease
Citrullinaemia
Cockayne syndrome
Coffin-Lowry syndrome
Congenital bilateral absence of vas deferens
Colour vision deficiency
Congenital erythropoietic porphyria
Cornelia de Lange syndrome
Costello syndrome
Cowden syndrome
Cri-du-chat syndrome
Crouzon syndrome
Crouzonodermoskeletal syndrome
Cowden syndrome
Cystinosis
Cystinuria

D

Dentinogenesis imperfecta
Dercum Disease
Diastrophic dysplasia
Distal hereditary motor neuropathy, type V
Duane Syndrome

E

Early-onset glaucoma
Ehlers-Danlos syndrome
Ellis-van Creveld syndrome
Erythropoietic protoporphyria
Eye Diseases

F

Fabry disease
Factor V Leiden thrombophilia
Familial dysautonomia
Familial Mediterranean Fever
Familial lipoprotein lipase deficiency
Friedreich ataxia

G

GM2-gangliosidosis, AB variant
Galactosaemia
Gaucher disease
Giant axonal neuropathy
Glucose-6-phosphate dehydrogenase deficiency
Glutaric acidaemia type I
Glutaric acidaemia type II
Greig cephalopolysyndactyly syndrome

H

Harlequin ichthyosis
Haemophilia
Hepatoerythropoietic porphyria
Hereditary haemorrhagic telangiectasia
Hereditary coproporphyria
Hereditary neuropathy with liability to pressure palsies
Hidradenitis suppurativa
Holocarboxylase synthetase deficiency
Holoprosencephaly
Homocystinuria
Hutchinson-Gilford progeria syndrome
Hypochondrogenesis
Hypochondroplasia

I

Immune System and Disorders
Incontinentia pigmenti
Infantile-onset ascending hereditary spastic paralysis
Isovaleric acidaemia

J

Jackson-Weiss syndrome
Jervell and Lange-Nielsen syndrome
Juvenile primary lateral sclerosis

K

Klinefelter syndrome
Kniest dysplasia
Krabbe disease

L

Lesch-Nyhan syndrome
Leukodystrophies
Li-Fraumeni syndrome
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

M

Malonyl-CoA decarboxylase deficiency
Maple syrup urine disease
Marfan syndrome
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Metabolic Disorders
Methaemoglobinemia, beta-globin type
Menkes syndrome
Methylmalonic acidaemia
Mitochondrial trifunctional protein deficiency
Muenke syndrome

N

Neurofibromatosis
Niemann-Pick disease
Nonsyndromic deafness
Nonsyndromic deafness, autosomal recessive
Noonan syndrome
Norrie disease

O

Oculocutaneous albinism
Otospondylomegaepiphyseal dysplasia

P

Pallister-Hall syndrome
Pantothenate kinase-associated neurodegeneration
Parkinson disease
Pendred syndrome
Peutz-Jeghers syndrome
Pfeiffer syndrome
Platyspondylic lethal skeletal dysplasia, Torrance type
Poland Anomaly
Porphyria
Porphyria cutanea tarda
Primary carnitine deficiency
Primary hyperoxaluria
Prion disease
Progeria
Propionic acidaemia
Pseudoxanthoma elasticum

R

Recessive multiple epiphyseal dysplasia
Retinitis Pigmentosa
Romano-Ward syndrome
Rubinstein-Taybi syndrome

S

SADDAN
Sandhoff disease
Severe Combined Immunodeficiency (SCID)
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
Spinal and bulbar muscular atrophy
Spinal muscular atrophy
Spondyloepimetaphyseal dysplasia, Strudwick type
Spondyloepiphyseal dysplasia congenita
Spondyloperipheral dysplasia
Stickler syndrome

T

Tay-Sachs disease
Tetrahydrobiopterin deficiency
Thalassaemia
Thrombotic thrombocytopenic purpura
Thyroid Diseases
Tourette syndrome
Treacher Collins syndrome
Trigeminal Neuralgia
Trimethylaminuria
Triple X syndrome
Trisomy 13
Trisomy 18
Tuberous sclerosis
Turner syndrome
Tyrosinaemia

V

Variegate porphyria
Very long-chain acyl-coenzyme A dehydrogenase deficiency
Vitelliform macular dystrophy
Von Hippel-Lindau syndrome

W

Waardenburg syndrome
Werner syndrome
Williams syndrome
Wilson disease
Weissenbacher-Zweymüller syndrome

X

X-linked adrenoleukodystrophy
X-linked sideroblastic anaemia
X-linked severe combined immunodeficiency