Genetic Diseases & Conditions - Blood/lymphatic system

The circulatory and lymphatic systems are the body's transport system. They carry nutrients and other important molecules to cells and carry away waste. When these systems do not function properly, the body is more susceptible to illness and infection.

A-T see ataxia-telangiectasia
Acute cerebral Gaucher's disease see Gaucher disease, type 2
anaemia, hereditary sideroblastic see X-linked sideroblastic anaemia
anaemia, sex-linked hypochromic sideroblastic see X-linked sideroblastic anaemia
ANH1 see X-linked sideroblastic anaemia
APC resistance, Leiden type see factor V Leiden thrombophilia
ataxia-telangiectasia
ATM see ataxia-telangiectasia
Benign paroxysmal peritonitis see familial Mediterranean fever
beta thalassaemia
blue baby syndrome see methaemoglobinemia, beta-globin type
Central Nervous System Cavernous haemangioma see cerebral cavernous malformation
cerebral cavernous malformation
Cerebroside Lipidosis Syndrome see Gaucher disease
citrullinaemia
Citrullinuria see citrullinaemia
congenital methaemoglobinemia see methaemoglobinemia, beta-globin type
Congenital sideroblastic anaemia see X-linked sideroblastic anaemia
Cooley's anaemia see beta thalassaemia
Deficiency of glucose-6-phosphate dehydrogenase see glucose-6-phosphate dehydrogenase deficiency
Erythroblastic anaemia see beta thalassaemia
Erythroid 5-aminolevulinate synthetase deficiency see X-linked sideroblastic anaemia
factor V Leiden thrombophilia
Familial Cavernous haemangioma see cerebral cavernous malformation
Familial Cavernous Malformation see cerebral cavernous malformation
Familial Cerebral Cavernous Angioma see cerebral cavernous malformation
Familial Cerebral Cavernous Malformation see cerebral cavernous malformation
familial Mediterranean fever
Familial Thrombotic Thrombocytopenia Purpura see thrombotic thrombocytopenic purpura
familial Turner syndrome see Noonan syndrome
Female Pseudo-Turner Syndrome see Noonan syndrome
FMF see familial Mediterranean fever
G6PD Deficiency see glucose-6-phosphate dehydrogenase deficiency
G6PDD see glucose-6-phosphate dehydrogenase deficiency
Gaucher disease
GD see Gaucher disease
Glucocerebrosidase deficiency see Gaucher disease
Glucocerebrosidosis see Gaucher disease
glucose-6-phosphate dehydrogenase deficiency
Glucosyl cerebroside lipidosis see Gaucher disease
Glucosylceramidase deficiency see Gaucher disease
Glucosylceramide beta-glucosidase deficiency see Gaucher disease
Glucosylceramide lipidosis see Gaucher disease
Hb S disease see sickle cell anaemia
haemoglobin M disease see methaemoglobinemia, beta-globin type
haemoglobin S Disease see sickle cell anaemia
haemophilia
hereditary haemorrhagic telangiectasia
Hereditary iron-loading anaemia see X-linked sideroblastic anaemia
Hereditary Periodic Fever Syndromes see familial Mediterranean fever
Hereditary resistance to activated protein C see factor V Leiden thrombophilia
Herrick's anaemia see sickle cell anaemia
HHT see hereditary haemorrhagic telangiectasia
Hypochromic anaemia see X-linked sideroblastic anaemia
Infantile cerebral Gaucher's disease see Gaucher disease, type 2
Infantile Gaucher Disease see Gaucher disease, type 2
Kerasin histiocytosis see Gaucher disease
Kerasin lipoidosis see Gaucher disease
Kerasin thesaurismosis see Gaucher disease
Lipoid histiocytosis (kerasin type) see Gaucher disease
Louis-Bar syndrome see ataxia-telangiectasia
Male Turner Syndrome see Noonan syndrome
Mediterranean anaemia see beta thalassaemia
Mediterranean Fever, Familial see familial Mediterranean fever
methaemoglobinemia, beta-globin type
3-methylglutaconic aciduria
Microangiopathic haemolytic anaemia see thrombotic thrombocytopenic purpura
Moschkowitz Disease see thrombotic thrombocytopenic purpura
Non-neuroneopathic Gaucher Disease see Gaucher disease, type 1
Noonan syndrome
Norrbottnian Gaucher disease see Gaucher disease, type 3
Osler-Rendu Disease see hereditary haemorrhagic telangiectasia
Osler-Rendu-Weber disease see hereditary haemorrhagic telangiectasia
Osler's disease see hereditary haemorrhagic telangiectasia
Periodic Disease see familial Mediterranean fever
Periodic peritonitis see familial Mediterranean fever
pseudo-Gaucher disease see Gaucher-like disease
pseudo-Ullrich-Turner syndrome see Noonan syndrome
Purpura, Thrombotic Thrombocytopenic see thrombotic thrombocytopenic purpura
Recurrent polyserositis see familial Mediterranean fever
Rendu-Osler-Weber see hereditary haemorrhagic telangiectasia
SCD see sickle cell anaemia
SCIDX1 see X-linked severe combined immunodeficiency
sickle cell anaemia
Telangiectasia, cerebello-oculocutaneous see ataxia-telangiectasia
thalassaemia intermedia see beta thalassaemia
thalassaemia Major see beta thalassaemia
thrombotic thrombocytopenic purpura
TTP see thrombotic thrombocytopenic purpura
Turner-like syndrome see Noonan syndrome
Turner syndrome in female with X chromosome see Noonan syndrome
Turner's phenotype, karyotype normal see Noonan syndrome
Type 2 Gaucher Disease see Gaucher disease, type 2
Type 3 Gaucher Disease see Gaucher disease, type 3
Ullrich-Noonan syndrome see Noonan syndrome
Weber-Osler see hereditary haemorrhagic telangiectasia
Wolff Periodic Disease see familial Mediterranean fever
X-linked severe combined immunodeficiency
X-linked sideroblastic anaemia
X-SCID see X-linked severe combined immunodeficiency
XLSA see X-linked sideroblastic anaemia
XSCID see X-linked severe combined immunodeficiency

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