occipital horn症候群
WordNet
- stab or pierce with a horn or tusk; "the rhino horned the explorer" (同)tusk
- the material (mostly keratin) that covers the horns of ungulates and forms hooves and claws and nails
- a high pommel of a Western saddle (usually metal covered with leather) (同)saddle horn
- a device having the shape of a horn; "horns at the ends of a new moon"; "the hornof an anvil"; "the cleat had two horns"
- a noisemaker (as at parties or games) that makes a loud noise when you blow through it
- an alarm device that makes a loud warning sound
- any hard protuberance from the head of an organism that is similar to or suggestive of a horn
- one of the bony outgrowths on the heads of certain ungulates
- a noise made by the driver of an automobile to give warning;
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- having a horn or horns or hornlike parts or horns of a particular kind; "horned viper"; "great horned owl"; "the unicorn--a mythical horned beast"; "long-horned cattle"
- of or relating to the occiput; "occipital bone"
PrepTutorEJDIC
- 〈C〉(牛・羊・ヤギ・シカなどの)『角』;(カタツムリの)触角;(ミミズクの)耳 / 〈U〉(細工の材料としての)角 / 〈C〉角製の物,角笛 / 〈C〉『警笛』 / 〈C〉ホルン(金管楽器で,初めは動物の角で作ったが,現在は金属やプラスチックで作る);フレンチホルモン(French horn);《俗》トランペット / 〈C〉角状のもの;新月(三日月)のとがった先端 / …‘を'角で突く / 角でできた,角製の
- (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
- 《しばしば複合語を作って》「…のある」の意を表す / 《古》三日月形をした
- ほう(驚き・賞賛・冷笑などの発声);お‐い(呼びかけ・注意などの発声)
- 娼婦・売春婦：（whoreの発音をくずしたもの）
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/04/17 20:46:24」(JST)
[Wiki en表示]
| Occipital horn syndrome |
| Classification and external resources |
| Specialty |
endocrinology |
| ICD-10 |
E83.0 |
| OMIM |
304150 |
| DiseasesDB |
33413 |
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[edit on Wikidata]
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Occipital horn syndrome (OHS), formerly considered a variant of Ehlers-Danlos syndrome,[1] is an X-linked recessive connective tissue disorder. It is caused by a deficiency in the transport of the essential mineral copper, associated with mutations in the ATP7A gene.[2][3] Only about 2/3 of children with OHS are thought to have genetically inherited the disorder; the other 1/3 do not have the disease in their family history. Since the disorder is X-linked recessive the disease affects more males. This is because they do not have a second X chromosome, unlike females, so essentially are lacking the 'backup' copy with proper function. Females are much more likely to be carriers only. For a female to be affected they must carry two defective X chromosomes, not just one.[4] The disorder is considered a milder variant of Menkes disease.[5]
Contents
- 1 Characteristics
- 2 Treatment
- 3 See also
- 4 References
- 5 External links
Characteristics
It is characterized by a deficiency in biliary copper excretion that causes deformations in the skeleton. These include projections on the back of the skull (parasagittal bone exostoses arising from the occipital bone—the so-called "occipital horns") as well as deformities of the elbow, radial head dislocation, hammer-shaped lateral ends of the clavicles, and abnormalities of the hips and pelvis.[1] OHS presents in early to middle childhood.[4] Children may present with features such as:
- Normal/slightly delayed intelligence
- Long neck, high arched palate, long face, high forehead
- Looseness of skin and "double jointed"
- Inguinal Hernias
- Twisting of blood vessels
- Bladder diverticula
- Dysautonomia—inability to regulate parts of the nervous system
- Chronic Diarrhea
- Coarse hair
Treatment
Courses of treatment for children with is dependent upon the severity of their case. Children with OHS often receive physical and occupational therapy.[4] They may require a feeding tube to supplement nourishment if they are not growing enough. In an attempt to improve the neurological condition (seizures) copper histidine or copper chloride injections can be given early in the child’s life. However, copper histidine injections have been shown ineffective in studies of copper metabolic-connective tissue disorders such as OHS.[6]
See also
- Cutis laxa
- List of cutaneous conditions
- Inborn errors of metal metabolism
References
- ^ a b Online 'Mendelian Inheritance in Man' (OMIM) 304150
- ^ Scheiber, Ivo; Dringen, Ralf; Mercer, Julian F. B. (2013). "Chapter 11. Copper: Effects of Deficiency and Overload". In Astrid Sigel, Helmut Sigel and Roland K. O. Sigel. Interrelations between Essential Metal Ions and Human Diseases. Metal Ions in Life Sciences 13. Springer. pp. 359–387. doi:10.1007/978-94-007-7500-8_11.
- ^ Tang J, Robertson S, Lem KE, Godwin SC, Kaler SG (November 2006). "Functional copper transport explains neurologic sparing in occipital horn syndrome". Genet. Med. 8 (11): 711–8. doi:10.1097/01.gim.0000245578.94312.1e. PMID 17108763.
- ^ a b c Horn Syndrome, 9 August 2004.
- ^ Kennerson ML, Nicholson GA, Kaler SG, et al. (March 2010). "Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy". Am. J. Hum. Genet. 86 (3): 343–52. doi:10.1016/j.ajhg.2010.01.027. PMC: 2833394. PMID 20170900.
- ^ Kodama, H., C. Fujisima, W. Bhadhprasit. (November 2010). "Pathology, clinical features and treatments of congenital copper metabolic disorders - Focus on neurologic aspects.". Brain & Development.
External links
- GeneReviews/NCBI/NIH/UW entry on ATP7A-Related Copper Transport Disorders
- Occipital horn syndrome at NIH's Office of Rare Diseases
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Sex linkage: X-linked disorders
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X-linked recessive
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| Immune |
- Chronic granulomatous disease (CYBB)
- Wiskott–Aldrich syndrome
- X-linked severe combined immunodeficiency
- X-linked agammaglobulinemia
- Hyper-IgM syndrome type 1
- IPEX
- X-linked lymphoproliferative disease
- Properdin deficiency
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| Hematologic |
- Haemophilia A
- Haemophilia B
- X-linked sideroblastic anemia
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| Endocrine |
- Androgen insensitivity syndrome/Spinal and bulbar muscular atrophy
- KAL1 Kallmann syndrome
- X-linked adrenal hypoplasia congenita
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| Metabolic |
- Amino acid: Ornithine transcarbamylase deficiency
- Oculocerebrorenal syndrome
- Dyslipidemia: Adrenoleukodystrophy
- Carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency
- Pyruvate dehydrogenase deficiency
- Danon disease/glycogen storage disease Type IIb
- Lipid storage disorder: Fabry's disease
- Mucopolysaccharidosis: Hunter syndrome
- Purine-pyrimidine metabolism: Lesch–Nyhan syndrome
- Mineral: Menkes disease/Occipital horn syndrome
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| Nervous system |
- X-linked mental retardation: Coffin–Lowry syndrome
- MASA syndrome
- X-linked alpha thalassemia mental retardation syndrome
- Siderius X-linked mental retardation syndrome
- Eye disorders: Color blindness (red and green, but not blue)
- Ocular albinism (1)
- Norrie disease
- Choroideremia
- Other: Charcot–Marie–Tooth disease (CMTX2-3)
- Pelizaeus–Merzbacher disease
- SMAX2
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| Skin and related tissue |
- Dyskeratosis congenita
- Hypohidrotic ectodermal dysplasia (EDA)
- X-linked ichthyosis
- X-linked endothelial corneal dystrophy
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| Neuromuscular |
- Becker's muscular dystrophy/Duchenne
- Centronuclear myopathy (MTM1)
- Conradi–Hünermann syndrome
- Emery–Dreifuss muscular dystrophy 1
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| Urologic |
- Alport syndrome
- Dent's disease
- X-linked nephrogenic diabetes insipidus
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| Bone/tooth |
- AMELX Amelogenesis imperfecta
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| No primary system |
- Barth syndrome
- McLeod syndrome
- Smith–Fineman–Myers syndrome
- Simpson–Golabi–Behmel syndrome
- Mohr–Tranebjærg syndrome
- Nasodigitoacoustic syndrome
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X-linked dominant
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- X-linked hypophosphatemia
- Focal dermal hypoplasia
- Fragile X syndrome
- Aicardi syndrome
- Incontinentia pigmenti
- Rett syndrome
- CHILD syndrome
- Lujan–Fryns syndrome
- Orofaciodigital syndrome 1
- Craniofrontonasal dysplasia
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Inborn error of metal metabolism (E83, 275)
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| Transition metal |
| Fe |
| high: |
- Primary iron overload disorder: Hemochromatosis/HFE1
- Juvenile/HFE2
- HFE3
- African iron overload/HFE4
- Aceruloplasminemia
- Atransferrinemia
- Hemosiderosis
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| deficiency: |
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| Cu |
| high: |
- Copper toxicity
- Wilson's disease
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| deficiency: |
- Copper deficiency
- Menkes disease/Occipital horn syndrome
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| Zn |
| high: |
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| deficiency: |
- Acrodermatitis enteropathica
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| Electrolyte |
| Na+ and K+ |
- see Template:Water-electrolyte imbalance and acid-base imbalance
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| PO43− |
| high: |
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| deficiency: |
- Hypophosphatemia
- alkaline phosphatase
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| Mg2+ |
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| Ca2+ |
| high: |
- Hypercalcaemia
- Milk-alkali syndrome (Burnett's)
- Calcinosis (Calciphylaxis, Calcinosis cutis)
- Calcification (Metastatic calcification, Dystrophic calcification)
- Familial hypocalciuric hypercalcemia
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| deficiency: |
- Hypocalcaemia
- Osteomalacia
- Pseudohypoparathyroidism (Albright's hereditary osteodystrophy)
- Pseudopseudohypoparathyroidism
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UpToDate Contents
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English Journal
- Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX).
- Perez-Siles G1, Grant A, Ellis M, Ly C, Kidambi A, Khalil M, Llanos RM, Fontaine SL, Strickland AV, Züchner S, Bermeo S, Neist E, Brennan-Speranza TC, Takata RI, Speck-Martins CE, Mercer JF, Nicholson GA, Kennerson ML.
- Metallomics : integrated biometal science.Metallomics.2016 Sep 1;8(9):981-92. doi: 10.1039/c6mt00082g. Epub 2016 Jun 13.
- ATP7A is a P-type ATPase essential for cellular copper (Cu) transport and homeostasis. Loss-of-function ATP7A mutations causing systemic Cu deficiency are associated with severe Menkes disease or its milder allelic variant, occipital horn syndrome. We previously identified two rare ATP7A missense mu
- PMID 27293072
- Menkes disease: what a multidisciplinary approach can do.
- Ojha R1, Prasad AN2.
- Journal of multidisciplinary healthcare.J Multidiscip Healthc.2016 Aug 17;9:371-85. doi: 10.2147/JMDH.S93454. eCollection 2016.
- Disorders of copper homeostasis are currently recognized across the life span. Their recognition and links to human disease have spanned several decades, beginning with the recognition of a degenerative disorder in the offspring of sheep grazing in copper-deficient pastures, through to the descripti
- PMID 27574440
Japanese Journal
- Posterior quadrantectomyを実施した片側巨脳症の1例
- 戸田 啓介,馬場 啓至,小野 智憲
- 脳神経外科ジャーナル 20(9), 686-690, 2011-09-20
- 症例は生後間もなく大田原症候群と診断された7ヵ月の男児.神経学的には四肢の運動麻痺を認めなかったが,右同名半盲が示唆された.頭部MRIでは左頭頂後頭葉・側頭葉を中心に片側巨脳症の所見を認め,発作間欠時ECD-SPECTでは同部位の血流は低下していた.発作間欠時脳波では,左後頭部に持続する鋭波が記録された.眼球が右へ偏位し意識減損する発作が頻回となったため,左頭頂後頭葉・後側頭葉の離断術(後方1/4 …
- NAID 110008712067
- Pathology, clinical features and treatments of congenital copper metabolic disorders-Focus on neurologic aspects
- KODAMA Hiroko,FUJISAWA Chie,BHADHPRASIT Wattanaporn
- Brain & development 33(3), 243-251, 2011-03-01
- NAID 10029560980
- ゾニサミドが著効した軽症PVL(periventricular leukomalacia)関連性West症候群の1例
- 柴田 真理,山田 佳世,吉岡 章,嶋 緑倫,道之前 八重,高橋 幸博
- Journal of Nara Medical Association 59(5), 167-174, 2008-10-31
- … Post-natal respiratory care was required for respiratory distress syndrome. … Cranial CT and magnetic resonance examination indicated irregularities consistent with periventricular leukomalacia (PVL) on the right anterior lateral horn and in the periventricular area. … He had a febrile convulsion at the age of ten months, and bilateral parieto-occipital multi-spikes and hypsarrhyttmia were evident on electroen- cephalogram (EEG) 10 days after the seizure. …
- NAID 120004973177
★リンクテーブル★
[★]
- 英
- occipital horn syndrome OHS
- 関
- メンケス病
- メンケス病の原因遺伝子と同じ遺伝子(ATP7A遺伝子, ATP依存性Cuトランスポーターをコード)の変異により生じる
参考
- http://omim.org/entry/304150
- http://omim.org/clinicalSynopsis/304150?search=occipital horn syndrome
[★]
- 関
- angle、angular、corner
[★]
- 関
- occipitalis、occiput
[★]