パリスター・ホール症候群
WordNet
- United States astronomer who discovered Phobos and Deimos (the two satellites of Mars) (1829-1907) (同)Asaph Hall
- United States explorer who led three expeditions to the Arctic (1821-1871) (同)Charles Francis Hall
- United States chemist who developed an economical method of producing aluminum from bauxite (1863-1914) (同)Charles Martin Hall
- United States child psychologist whose theories of child psychology strongly influenced educational psychology (1844-1924) (同)G. Stanley Hall, Granville Stanley Hall
- English writer whose novel about a lesbian relationship was banned in Britain for many years (1883-1943) (同)Radclyffe Hall, Marguerite Radclyffe Hall
- a large building for meetings or entertainment
- a large building used by a college or university for teaching or research; "halls of learning"
- a large room for gatherings or entertainment; "lecture hall"; "pool hall"
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- an alliance of nations joining together to fight a common enemy
PrepTutorEJDIC
- 『会館』,公会堂,集会場;本部,事務所 / (大きな建物の一部となっている)『大広間』,ホール / (また《おもに米》『hallway』)『玄関の広間』(玄関のドアを入った所とそこから各部屋の前まで通じる廊下) / 《米》(学校・ビルなどの)『廊下』,通路 / 学校内の特別の用途のための建物(校舎,寄宿舎,集会所,大食堂など) / 《おもに英》地方の大地主の邸宅
- (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）』「2014/04/13 12:29:47」(JST)
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This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed. (August 2011) |
| Pallister–Hall syndrome |
| Classification and external resources |
| ICD-10 |
D33.0 |
| OMIM |
146510 |
| DiseasesDB |
32013 |
| MeSH |
D054975 |
Pallister–Hall syndrome is a disorder that affects the development of many parts of the body.
It is named for Judith Hall and Philip Pallister.[1][2]
Contents
- 1 Presentation
- 2 Genetics
- 3 Seizures
- 4 External links
- 5 References
Presentation
Most people with this condition have extra fingers and/or toes (polydactyly), and the skin between some fingers or toes may be fused (cutaneous syndactyly). An abnormal growth in the brain called a hypothalamic hamartoma is characteristic of this disorder. In many cases, these growths do not cause any medical problems; however, some hypothalamic hamartomas lead to seizures or hormone abnormalities that can be life-threatening in infancy. Other features of Pallister–Hall syndrome include a malformation of the airway called a bifid epiglottis, laryngeal cleft, an obstruction of the anal opening (imperforate anus), and kidney abnormalities. Although the signs and symptoms of this disorder vary from mild to severe, only a small percentage of affected people have serious complications.
Genetics
This condition is very rare; its prevalence is unknown. Mutations in the GLI3 gene cause Pallister–Hall syndrome. The GLI3 gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting with certain genes at specific times during development, the GLI3 protein plays a role in the normal shaping (patterning) of many organs and tissues before birth. Defects in the same gene also cause Greig cephalopolysyndactyly syndrome.
Mutations that cause Pallister–Hall syndrome typically lead to the production of an abnormally short version of the GLI3 protein. Unlike the normal GLI3 protein, which can turn target genes on or off, the short protein can only turn off (repress) target genes. Researchers are working to determine how this change in the protein's function affects early development. It remains uncertain how GLI3 mutations can cause polydactyly, hypothalamic hamartoma, and the other features of Pallister–Hall syndrome.
Pallister–Hall syndrome is inherited in an autosomal dominant pattern.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits a mutation in the GLI3 gene from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Seizures
As noted above, the hypothalamic hamartoma can cause seizures. The most common types of seizures that occur are known as Gelastic Epilepsy. The term Gelastic originates from the Greek word "Gelos" which means laughter. Seizures may begin at any age but usually before three or four years of age. The seizures usually start with laughter and the laughter is often described as being 'hollow' or 'empty' and not very pleasant. The laughter occurs suddenly, comes on for no obvious reason and is usually completely out of place. The most common areas of the brain which give rise to gelastic seizures are the hypothalamus (a small but extremely important structure deep in the centre of the brain), the temporal lobes and the frontal lobes. If the child has gelastic seizures and precocious puberty, then it is likely that the child will be found to have a hypothalamic hamartoma (a hamartoma in the hypothalamus part of the brain).
External links
- GeneReviews/NCBI/NIH/UW entry on Pallister–Hall Syndrome
- [1]
- [2]
References
- ^ synd/506 at Who Named It?
- ^ Hall JG, Pallister PD, Clarren SK, et al (1980). "Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations". Am. J. Med. Genet. 7 (1): 47–74. doi:10.1002/ajmg.1320070110. PMID 7211952.
- Pallister–Hall syndrome at NLM Genetics Home Reference
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Genetic disorder, protein biosynthesis: Transcription factor/coregulator deficiencies
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| (1) Basic domains |
| 1.2 |
- Feingold syndrome
- Saethre–Chotzen syndrome
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| 1.3 |
|
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(2) Zinc finger
DNA-binding domains |
| 2.1 |
- (Intracellular receptor): Thyroid hormone resistance
- Androgen insensitivity syndrome
- Kennedy's disease
- PHA1AD pseudohypoaldosteronism
- Estrogen insensitivity syndrome
- X-linked adrenal hypoplasia congenita
- MODY 1
- Familial partial lipodystrophy 3
- SF1 XY gonadal dysgenesis
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| 2.2 |
- Barakat syndrome
- Tricho–rhino–phalangeal syndrome
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| 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
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| 2.5 |
- Autoimmune polyendocrine syndrome type 1
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| (3) Helix-turn-helix domains |
| 3.1 |
- ARX
- Ohtahara syndrome
- Lissencephaly X2
- MNX1
- HOXD13
- PDX1
- LMX1B
- MSX1
- Tooth and nail syndrome
- OFC5
- PITX2
- POU4F3
- POU3F4
- ZEB1
- Posterior polymorphous corneal dystrophy
- Fuchs' dystrophy 3
- ZEB2
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| 3.2 |
- PAX2
- PAX3
- PAX4
- PAX6
- Gillespie syndrome
- Coloboma of optic nerve
- PAX8
- Congenital hypothyroidism 2
- PAX9
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| 3.3 |
- FOXC1
- Axenfeld syndrome 3
- Iridogoniodysgenesis, dominant type
- FOXC2
- Lymphedema–distichiasis syndrome
- FOXE1
- Bamforth–Lazarus syndrome
- FOXE3
- Anterior segment mesenchymal dysgenesis
- FOXF1
- FOXI1
- Enlarged vestibular aqueduct
- FOXL2
- Premature ovarian failure 3
- FOXP3
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| 3.5 |
- IRF6
- Van der Woude syndrome
- Popliteal pterygium syndrome
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(4) β-Scaffold factors
with minor groove contacts |
| 4.2 |
- Hyperimmunoglobulin E syndrome
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| 4.3 |
- Holt–Oram syndrome
- Li–Fraumeni syndrome
- Ulnar–mammary syndrome
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| 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
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| 4.11 |
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| (0) Other transcription factors |
|
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| Ungrouped |
- TCF4
- ZFP57
- TP63
- Rapp–Hodgkin syndrome/Hay–Wells syndrome/Ectrodactyly–ectodermal dysplasia–cleft syndrome 3/Limb–mammary syndrome/OFC8
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| Transcription coregulators |
| Coactivator: |
- CREBBP
- Rubinstein–Taybi syndrome
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| Corepressor: |
- HR (Atrichia with papular lesions)
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See also transcription factors and intracellular receptors
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
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Phakomatosis (Q85, 759.5–759.6)
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| Neurofibromatosis |
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| Angiomatosis |
- Sturge–Weber syndrome
- Von Hippel–Lindau disease
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| Hamartoma |
- Tuberous sclerosis
- Hypothalamic hamartoma (Pallister–Hall syndrome)
- Multiple hamartoma syndrome
- Proteus syndrome
- Cowden syndrome
- Bannayan–Riley–Ruvalcaba syndrome
- Lhermitte–Duclos disease
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| Other |
- Abdallat–Davis–Farrage syndrome
- Ataxia telangiectasia
- Incontinentia pigmenti
- Peutz–Jeghers syndrome
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UpToDate Contents
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English Journal
- The early history of Pallister-Hall syndrome-Buried treasure of a sort.
- Hall JG1.
- Gene.Gene.2016 Sep 10;589(2):100-3. doi: 10.1016/j.gene.2016.01.003. Epub 2016 Jan 5.
- Pallister-Hall syndrome was initially recognized under fairly unique circumstances involving exhumation of the very first case. The first two cases had dramatic and unusual features including a hypothalamic hamartoblastoma, imperforate anus, an unusual type of polydactyly with the extra digit being
- PMID 26768579
- Bifid epiglottis in a patient with Pallister-Hall syndrome.
- Kraus M1, Diu M2.
- Canadian journal of anaesthesia = Journal canadien d'anesthesie.Can J Anaesth.2016 Jun 23. [Epub ahead of print]
- PMID 27339091
- Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.
- Saitsu H1, Sonoda M2, Higashijima T2, Shirozu H2, Masuda H2, Tohyama J3, Kato M4, Nakashima M5, Tsurusaki Y6, Mizuguchi T5, Miyatake S5, Miyake N5, Kameyama S2, Matsumoto N5.
- Annals of clinical and translational neurology.Ann Clin Transl Neurol.2016 Mar 24;3(5):356-65. doi: 10.1002/acn3.300. eCollection 2016.
- OBJECTIVE: Hypothalamic hamartoma (HH) is a congenital anomalous brain tumor. Although most HHs are found without any other systemic features, HH is observed in syndromic disorders such as Pallister-Hall syndrome (PHS) and oral-facial-digital syndrome (OFD). Here, we explore the possible involvement
- PMID 27231705
Japanese Journal
- Hypothalamic Hamartomas and Seizures : Distinct Natural History of Isolated and Pallister-Hall Syndrome Cases
- BOUDREAU Eilis A.,LIOW Kore,FRATTALI Carol M.,WIGGS Edith,TURNER Joyce T.,FEUILLAN Penelope,SATO Susumu,PATSALIDES Athos,PATRONAS Nicholas,BIESECKER Leslie G.,THEODORE William H.
- Epilepsia : journal of the International League against Epilepsy 46(1), 42-47, 2005-01-01
- NAID 10015456842
- Gonadal mosaicism in severe Pallister-Hall syndrome
Related Links
- NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health. Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews ... Summary Disease characteristics. Pallister-Hall syndrome (referred to as ...
- Pallister-Hall syndrome is a disorder that affects the development of many parts of the body. Most people with this condition have extra fingers and/or toes (polydactyly), and the skin between some fingers or toes may be ...
- Hall JG, Pallister PD, Clarren SK, Beckwith JB, Wiglesworth FW, Fraser FC, Cho S, Benke PJ, Reed SD. Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome?
Related Pictures
★リンクテーブル★
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- 英
- Pallister-Hall syndrome PHS
- 同
- パリスター-ホール症候群 Pallister-Hall症候群、ホール症候群 Hall症候群 Hall Syndrome
概念
- 1980年Hallらによって記載された視床下部過誤腫、多指症(第4,5指に認められる)、汎下垂体機能不全、肛門閉鎖、その他の内蔵奇形を伴う症候群(文献(3))
予後
- 早期新生児期死亡が多い。
- 生存例もあるため、必ずしも致死的ではない。
文献
- 文献(1)～(3)はいずれもfree accessのpdf文献付き
- 1. 197 A CASE OF THE PALLISTER-HALL SYNDROME IN A NEONATE
- Tadokoro R,Sato H,Hosaka A,Yamashiro Y
- Clinical pediatric endocrinology 11(2), 150, 2002-12
- NAID 110002984291
- 2. An Infant Case of Pallister-Hall Syndrome Treated with Hormone Replacement
- Shimizu Ayako,Shimazaki Ei,Tooyama Kan,Mori Tetsuo,Miyairi Yousuke,Shigeta Hiroaki
- Clinical pediatric endocrinology 11(1), 29-32, 2002-06
- NAID 110002984273
- 3. Pallister-Hall Syndromeの1例(<特集>小児科学教室大澤真木子教授開講5周年記念)
- 中山 智博,小国 弘量,伊藤 康,舟塚 真,林 北見,小野 由子,大澤 真木子
- 東京女子医科大学雑誌 70(臨時増刊号1), E150-E154, 2000-06-25
- NAID 110007526894
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