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Ataxia Telangiectasia
Ataxia telangiectasia
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Genodermatoses
Bloom syndrome
Cockayne syndrome
Apert syndrome
Genetic disorders
(24)
Friedreich ataxia
Autistic psychopathy
Spinocerebellar ataxia
Alexander disease
22q11.2 deletion syndrome
22q11.2 deletion syndrome
Li-fraumeni syndrome
Hyper IgM syndrome
Nijmegen breakage syndrome
Wiskott-aldrich syndrome
Severe combined immunodeficiency
Hereditary hemorrhagic telangiectasia
Hyper IgE syndrome
Peutz-jeghers syndrome
Angelman syndrome
Aicardi syndrome
Andersen-Tawil syndrome
Spastic ataxia
Adrenoleuk- odystrophy
Machado-joseph disease
Chronic granulomatous disease
Chediak-higashi syndrome
Bloom syndrome
Cockayne syndrome
Apert syndrome
more...
Diseases and disorders
(44)
Anemia, hemolytic
Telangiectasia
Australian Antigen
Acute disseminated encephalomyelitis
Advanced sleep phase syndrome
Advanced sleep phase syndrome
Demyelinating disease
Angiofibroma
Amaurosis fugax
Syndromes
Agammaglobulinemia
Gianotti–Crosti syndrome
Alpers disease
Olivoponto- cerebellar atrophy
Symptoms
Episodic ataxia syndrome
Lymphohistiocytosis
Reticular dysgenesis
Acute biphenotypic leukemia
Anemia, iron-deficiency
Aniridia
Acute cerebellar ataxia
Selective IgA deficiency
Anonychia onychodystrophy
Myelofibrosis
Common variable immunodeficiency
Friedreich ataxia
Autistic psychopathy
Alexander disease
22q11.2 deletion syndrome
Li-fraumeni syndrome
Hyper IgM syndrome
Nijmegen breakage syndrome
Wiskott-aldrich syndrome
Severe combined immunodeficiency
Hereditary hemorrhagic telangiectasia
Hyper IgE syndrome
Bloom syndrome
Angelman syndrome
Cockayne syndrome
Spastic ataxia
Machado-joseph disease
Chronic granulomatous disease
Apert syndrome
Chediak-higashi syndrome
more...
Neurological disorders
(12)
Cerebellar ataxia
Dyschronometria
Friedreich ataxia
Autistic psychopathy
Acute disseminated encephalomyelitis
Acute disseminated encephalomyelitis
Spinocerebellar ataxia
Alpers disease
Olivoponto- cerebellar atrophy
Angelman syndrome
Aicardi syndrome
Cockayne syndrome
Machado-joseph disease
more...
Autosomal recessive disorders
Friedreich ataxia
Bloom syndrome
Cockayne syndrome
Chediak-higashi syndrome
Dermal and subcutaneous growths
Angiomatosis
Telangiectasia
Angiofibroma
Neurology
(10)
Neural stem cell
Choreoathetosis
Myoclonic Encephalopathy of infants
Acute disseminated encephalomyelitis
Demyelinating disease
Demyelinating disease
Amaurosis fugax
Hereditary hemorrhagic telangiectasia
Spastic ataxia
Aniridia
Adrenoleuk- odystrophy
more...
Immunodeficiency
(14)
Acquired immunodeficiency
Adenosine deaminase deficiency
Bare lymphocyte syndrome
Common variable immunodeficiency
Complement deficiency
Complement deficiency
HIV
HIV/AIDS
ICF syndrome
Idiopathic CD4+ lymphocytopenia
Nezelof syndrome
Primary immunodeficiency
Severe combined immunodeficiency
Severe combined immunodeficiency (non-human)
X-linked severe combined immunodeficiency
more...
Tumor suppressor genes
(15)
Brca1
Brca2
P53
Tumor suppressor gene
APC (gene)
APC (gene)
CDKN1B
Cyclin-dependent kinase inhibitor 1C
PTEN (gene)
SDHB
SDHD
TCF21
TIG1
Von Hippel-Lindau tumor suppressor
p16 (gene)
p73
more...
Proteins
Ataxia telangiectasia mutated
Ataxia telangiectasia and Rad3 related
Mre11-Rad50-Nbs1
Gamma globulin
P53
Gene
(8)
ApoCII
Chk1
NBS1
DARPP 32
Rad50
Rad50
MDC1
RAD17
CDK5
more...
Noninfectious immunodeficiency-related cutaneous conditions
(26)
22q11.2 deletion syndrome
Bare lymphocyte syndrome
Cartilage–hair hypoplasia
Chediak-higashi syndrome
Chronic granulomatous disease
Chronic granulomatous disease
Common variable immunodeficiency
Complement deficiency
Graft-versus-host disease
Griscelli syndrome
Hyper IgE syndrome
Immunodeficiency with hyper-immu- noglobulin M
Immunoglobulin M deficiency
Leukocyte adhesion molecule deficiency
Myeloperoxidase deficiency
Neutropenia
Nezelof syndrome
Omenn syndrome
Purine nucleoside phosphorylase deficiency
Selective IgA deficiency
Severe combined immunodeficiency
Thymoma with immunodeficiency
WHIM syndrome
Wiskott-aldrich syndrome
X-linked agammaglobulinemia
X-linked hyper-immu- noglobulin M syndrome
X-linked lymphoproliferative disease
more...
Inborn error of metabolism
Fanconi anemia
Rothmund–Thomson syndrome
Werner syndrome
Li-Fraumeni syndrome
Nijmegen breakage syndrome
Severe combined immunodeficiency
Bloom syndrome
See also
(20)
Enzyme
Influenza A virus subtype H2N2 (Asian flu)
DNA damage
Double-strand breaks
Aortic aneurysm
Aortic aneurysm
Friedreich
Paraneoplastic syndromes
Achondrogenesis
Arthroscopic
Immunodeficiency
Cerebellar
Serine/thr- eonine-specific protein kinases
Oculomotor
Incontinentia pigmenti
Caspase recruitment domain
Cell cycle
Cell cycle checkpoint
Phosphorylates
Autosomal recessive
Congenital malformations
more...
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