- 同
- autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome
WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
PrepTutorEJDIC
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/09/25 11:07:26」(JST)
[Wiki en表示]
| Autoimmune polyendocrine syndrome type 1 |
| Classification and external resources |
| ICD-10 |
E31.0 |
| ICD-9 |
258.1 |
| OMIM |
240300 |
| DiseasesDB |
29212 |
| eMedicine |
med/1867 |
| MeSH |
D016884 |
Autoimmune polyendocrine syndrome type 1 (APS-1), also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), Whitaker syndrome,[1] or candidiasis-hypoparathyroidism-Addison's disease-syndrome,[2] is a subtype of autoimmune polyendocrine syndrome, in which multiple endocrine glands dysfunction as a result of autoimmunity. It is a genetic disorder attributed to a defect in the AIRE gene that normally confers immune tolerance. It is inherited in a recessive fashion.
Its main features include:[citation needed]
- A mild immune deficiency, leading to persistent mucosal and cutaneous infections with candida yeasts. There is also decreased function of the spleen (hyposplenism).
- Autoimmune dysfunction of the parathyroid gland (leading to hypocalcaemia) and the adrenal gland (Addison's disease: hypoglycemia, hypotension and severe reactions in disease).
- Other disease associations are:
- hypothyroidism
- hypogonadism and infertility
- vitiligo (depigmentation of the skin)
- alopecia (baldness)
- malabsorption
- pernicious anemia
- chronic active (autoimmune) hepatitis
References[edit]
- ^ "Polyglandular Autoimmune Syndrome, Type I - eMedicine Endocrinology". Medscape. Retrieved 2009-04-17.
- ^ Greenspan, Francis S.; Gardner, David C. (2004). Basic clinical endocrinology. New York: McGraw-Hill. p. 103. ISBN 0-07-140297-7.
External links[edit]
- EurAPS, a EU-funded consortium doing translational research on this condition
|
Endocrine pathology: endocrine diseases (E00–E35, 240–259)
|
|
Pancreas/
glucose
metabolism |
| Hypofunction |
- types:
- type 1
- type 2
- MODY 1 2 3 4 5 6
- complications
- coma
- angiopathy
- ketoacidosis
- nephropathy
- neuropathy
- retinopathy
- cardiomyopathy
- insulin receptor (Rabson–Mendenhall syndrome)
- Insulin resistance
|
|
| Hyperfunction |
- Hypoglycemia
- beta cell (Hyperinsulinism)
- G cell (Zollinger–Ellison syndrome)
|
|
|
Hypothalamic/
pituitary axes |
| Hypothalamus |
- gonadotropin
- Kallmann syndrome
- Adiposogenital dystrophy
- CRH (Tertiary adrenal insufficiency)
- vasopressin (Neurogenic diabetes insipidus)
- general (Hypothalamic hamartoma)
|
|
| Pituitary |
| Hyperpituitarism |
- anterior
- Acromegaly
- Hyperprolactinaemia
- Pituitary ACTH hypersecretion
- posterior (SIADH)
- general (Nelson's syndrome)
|
|
| Hypopituitarism |
- anterior
- Kallmann syndrome
- Growth hormone deficiency
- ACTH deficiency/Secondary adrenal insufficiency
- GnRH insensitivity
- FSH insensitivity
- LH/hCG insensitivity
- posterior (Neurogenic diabetes insipidus)
- general
- Empty sella syndrome
- Pituitary apoplexy
- Sheehan's syndrome
- Lymphocytic hypophysitis
|
|
|
| Thyroid |
| Hypothyroidism |
- Iodine deficiency
- Cretinism
- Congenital hypothyroidism
- Myxedema
- Euthyroid sick syndrome
|
|
| Hyperthyroidism |
- Hyperthyroxinemia
- Thyroid hormone resistance
- Familial dysalbuminemic hyperthyroxinemia
- Hashitoxicosis
- Thyrotoxicosis factitia
- Graves' disease
|
|
| Thyroiditis |
- Acute infectious
- Subacute
- De Quervain's
- Subacute lymphocytic
- Autoimmune/chronic
- Hashimoto's
- Postpartum
- Riedel's
|
|
| Goitre |
- Endemic goitre
- Toxic nodular goitre
- Toxic multinodular goiter
|
|
|
| Parathyroid |
| Hypoparathyroidism |
- Hypoparathyroidism
- Pseudohypoparathyroidism
- Pseudopseudohypoparathyroidism
|
|
| Hyperparathyroidism |
- Primary
- Secondary
- Tertiary
- Osteitis fibrosa cystica
|
|
|
| Adrenal |
| Hyperfunction |
- aldosterone: Hyperaldosteronism/Primary aldosteronism
- Conn syndrome
- Bartter syndrome
- Glucocorticoid remediable aldosteronism
- AME
- Liddle's syndrome
- 17α CAH
- cortisol: Cushing's syndrome (Pseudo-Cushing's syndrome)
- sex hormones: 21α CAH
- 11β CAH
|
|
Hypofunction/
Adrenal insufficiency
(Addison's, WF) |
- aldosterone: Hypoaldosteronism
|
|
|
| Gonads |
- ovarian: Polycystic ovary syndrome
- Premature ovarian failure
- testicular: enzymatic
- 5α-reductase deficiency
- 17β-hydroxysteroid dehydrogenase deficiency
- aromatase excess syndrome)
- Androgen receptor (Androgen insensitivity syndrome
- general: Hypogonadism (Delayed puberty)
- Hypergonadism
- Hypoandrogenism
- Hypoestrogenism
- Hyperandrogenism
- Hyperestrogenism
|
|
|
| Height |
- Dwarfism/Short stature
- Midget
- Laron syndrome
- Psychosocial
- Ateliosis
- Gigantism
|
|
| Multiple |
- Autoimmune polyendocrine syndrome multiple
- Carcinoid syndrome
- Multiple endocrine neoplasia
- Progeria
- Werner syndrome
- Acrogeria
- Metageria
- Woodhouse-Sakati syndrome
|
|
|
|
|
noco (d)/cong/tumr, sysi/epon
|
proc, drug (A10/H1/H2/H3/H5)
|
|
|
|
|
Immune disorders: hypersensitivity and autoimmune diseases (279.5–6)
|
|
Type I/allergy/atopy
(IgE) |
|
Foreign
|
Atopic dermatitis · Allergic urticaria · Hay fever · Allergic asthma · Anaphylaxis · Food allergy (Milk, Egg, Peanut, Tree nut, Seafood, Soy, Wheat), Penicillin allergy
|
|
|
Autoimmune
|
none
|
|
|
Type II/ADCC
(IgM, IgG) |
|
Foreign
|
Pernicious anemia · Hemolytic disease of the newborn
|
|
|
Autoimmune
|
|
Cytotoxic
|
Autoimmune hemolytic anemia · Idiopathic thrombocytopenic purpura · Bullous pemphigoid · Pemphigus vulgaris · Rheumatic fever · Goodpasture's syndrome
|
|
|
"Type 5"/receptor
|
Graves' disease · Myasthenia gravis
|
|
|
|
Type III
(Immune complex) |
|
Foreign
|
Henoch–Schönlein purpura · Hypersensitivity vasculitis · Reactive arthritis · Farmer's lung · Post-streptococcal glomerulonephritis · Serum sickness · Arthus reaction
|
|
|
Autoimmune
|
Systemic lupus erythematosus · Subacute bacterial endocarditis · Rheumatoid arthritis
|
|
|
Type IV/cell-mediated
(T-cells) |
|
Foreign
|
Allergic contact dermatitis · Mantoux test
|
|
|
Autoimmune
|
Diabetes mellitus type 1 · Hashimoto's thyroiditis · Guillain–Barré syndrome · Multiple sclerosis · Coeliac disease · Giant-cell arteritis
|
|
|
GVHD
|
Transfusion-associated graft versus host disease
|
|
|
Unknown/
multiple |
|
Foreign
|
Hypersensitivity pneumonitis (Allergic bronchopulmonary aspergillosis) · Transplant rejection · Latex allergy (I+IV)
|
|
|
Autoimmune
|
Sjögren's syndrome · Autoimmune hepatitis · Autoimmune polyendocrine syndrome (APS1, APS2) · Autoimmune adrenalitis · Systemic autoimmune disease
|
|
|
|
|
cell/phys/auag/auab/comp, igrc
|
|
|
|
|
|
|
Genetic disorder, protein biosynthesis: Transcription factor/coregulator deficiencies
|
|
| (1) Basic domains |
1.2: Feingold syndrome · Saethre–Chotzen syndrome
1.3: Tietz syndrome
|
|
(2) Zinc finger
DNA-binding domains |
2.1 (Intracellular receptor): Thyroid hormone resistance · Androgen insensitivity syndrome (PAIS, MAIS, CAIS) · Kennedy's disease · PHA1AD pseudohypoaldosteronism · Estrogen insensitivity syndrome · X-linked adrenal hypoplasia congenita · MODY 1 · Familial partial lipodystrophy 3 · SF1 XY gonadal dysgenesis
2.2: Barakat syndrome · Tricho–rhino–phalangeal syndrome
2.3: Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome · Denys–Drash syndrome · Duane-radial ray syndrome · MODY 7 · MRX 89 · Townes–Brocks syndrome · Acrocallosal syndrome · Myotonic dystrophy 2
2.5: Autoimmune polyendocrine syndrome type 1
|
|
| (3) Helix-turn-helix domains |
3.1: ARX (Ohtahara syndrome, Lissencephaly X2) · HLXB9 (Currarino syndrome) · HOXD13 (SPD1 Synpolydactyly) · IPF1 (MODY 4) · LMX1B (Nail–patella syndrome) · MSX1 (Tooth and nail syndrome, OFC5) · PITX2 (Axenfeld syndrome 1) · POU4F3 (DFNA15) · POU3F4 (DFNX2) · ZEB1 (Posterior polymorphous corneal dystrophy 3, Fuchs' dystrophy 3) · ZEB2 (Mowat–Wilson syndrome)
3.2: PAX2 (Papillorenal syndrome) · PAX3 (Waardenburg syndrome 1&3) · PAX4 (MODY 9) · PAX6 (Gillespie syndrome, Coloboma of optic nerve) · PAX8 (Congenital hypothyroidism 2) · PAX9 (STHAG3)
3.3: FOXC1 (Axenfeld syndrome 3, Iridogoniodysgenesis, dominant type) · FOXC2 (Lymphedema–distichiasis syndrome) · FOXE1 (Bamforth–Lazarus syndrome) · FOXE3 (Anterior segment mesenchymal dysgenesis) · FOXF1 (ACD/MPV) · FOXI1 (Enlarged vestibular aqueduct) · FOXL2 (Premature ovarian failure 3) · FOXP3 (IPEX)
3.5: IRF6 (Van der Woude syndrome, Popliteal pterygium syndrome)
|
|
(4) β-Scaffold factors
with minor groove contacts |
4.2: Hyperimmunoglobulin E syndrome
4.3: Holt–Oram syndrome · Li–Fraumeni syndrome · Ulnar–mammary syndrome
4.7: Campomelic dysplasia · MODY 3 · MODY 5 · SF1 (SRY XY gonadal dysgenesis, Premature ovarian failure 7) · SOX10 (Waardenburg syndrome 4c, Yemenite deaf-blind hypopigmentation syndrome)
4.11: Cleidocranial dysostosis
|
|
| (0) Other transcription factors |
0.6: Kabuki syndrome
|
|
| Ungrouped |
TCF4 (Pitt–Hopkins syndrome) · ZFP57 (TNDM1) · TP63 (Rapp–Hodgkin syndrome/Hay–Wells syndrome/Ectrodactyly–ectodermal dysplasia–cleft syndrome 3/Limb–mammary syndrome/OFC8)
|
|
| Transcription coregulators |
coactivator: CREBBP (Rubinstein–Taybi syndrome)
corepressor: HR (Atrichia with papular lesions)
|
|
see also transcription factors
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
|
|
UpToDate Contents
全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.
English Journal
- Intestinal Dysfunction in APECED Syndrome Could Mimic IPEX Syndrome.
- Sayar E, Islek A, Yilmaz A, Elpek GO, Artan R.Source*Department of Pediatric Gastroenterology †Department of Pathology, Akdeniz University Faculty of Medicine, Antalya, Turkey.
- Journal of pediatric gastroenterology and nutrition.J Pediatr Gastroenterol Nutr.2013 Apr;56(4):e27. doi: 10.1097/MPG.0b013e318283f3c8.
- PMID 23287803
- Multiorgan autoimmunity in a Turner syndrome patient with partial monosomy 2q and trisomy 10p.
- Grossi A, Palma A, Zanni G, Novelli A, Loddo S, Cappa M, Fierabracci A.SourceDivision of Endocrinology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
- Gene.Gene.2013 Feb 25;515(2):439-43. doi: 10.1016/j.gene.2012.12.007. Epub 2012 Dec 20.
- Turner syndrome is a condition caused by numeric and structural abnormalities of the X chromosome, and is characterized by a series of clinical features, the most common being short stature and gonadal dysgenesis. An increased frequency of autoimmune diseases as well as an elevated incidence of auto
- PMID 23262341
- [Autoimmune polyglandular syndromes].
- Hansen MP, Kahaly GJ.SourceI. Medizinische Klinik und Poliklinik, SP Endokrinologie, Universitätsmedizin Mainz der Johannes Gutenberg-Universität.
- Deutsche medizinische Wochenschrift (1946).Dtsch Med Wochenschr.2013 Feb;138(7):319-26; quiz 327-8. doi: 10.1055/s-0032-1327355. Epub 2013 Feb 7.
- The autoimmune polyglandular syndrome (APS) is defined as the manifestation of at least two endocrine autoimmune diseases. In order to take the wide spectrum of components and the variations of the disease fully into account, APS is usually divided up into the rare juvenile type (APS I) and the more
- PMID 23393002
Japanese Journal
- 中枢性免疫寛容不全と末梢性免疫寛容不全における標的抗原特異性
- 千田 奈津子,小林 一郎
- 日本臨床免疫学会会誌 38(3), 142-149, 2015
- … dystrophy（APECED）と末梢性免疫寛容の異常によって生じるImmunedysregulation, polyendocrinopathy, enteropathy, X-linked syndrome（IPEX症候群）は共に多彩な自己免疫疾患を合併する．いずれもT細胞免疫寛容不全であるが，B細胞レベルの免疫寛容にも大きな影響をもたらすことから，自己抗体の標的抗原特異性はT細胞レベルでの自己反応性を反映すると考えられる．興味深いことに，APECEDとIPEX症候 …
- NAID 130005089219
- 多腺性自己免疫症候群 (特集 ここまでわかっている自己抗体と自己免疫疾患)
- Testis-expressed protein TSGA10 - an auto-antigen in autoimmune polyendocrine syndrome type I
- REIMAND Koit,PERHEENTUPA Jaakko,LINK Maire,KROHN Kai,PETERSON Part,UIBO Raivo
- International immunology 20(1), 39-44, 2008-01-01
- NAID 10020106153
Related Links
- APECED Syndrome information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis. ... APECED Syndrome: Introduction APECED Syndrome: APECED is a ...
- Symptoms of APECED Syndrome including 23 medical symptoms and signs of APECED Syndrome, alternative diagnoses, misdiagnosis, and correct diagnosis for APECED Syndrome signs or APECED Syndrome symptoms.
Related Pictures
★リンクテーブル★
[★]
多腺性自己免疫症候群1型。autoimmune polyendocrinopathy-candidiasis-ectodermal dysplasia
[★]