口顔面指症候群
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）』「2014/10/22 22:52:23」(JST)
[Wiki en表示]
| Orofaciodigital syndrome 1 |
| Classification and external resources |
| OMIM |
311200 |
| DiseasesDB |
29898 |
| MeSH |
D009958 |
Orofaciodigital syndrome 1 (OFD1), also called Papillon-League and Psaume syndrome,[1] is an X-linked congenital disorder characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system.[2]
Contents
- 1 Cause and Genetics
- 1.1 Relation to other rare genetic disorders
- 2 References
- 3 External links
Cause and Genetics
Orofaciodigital syndrome type 1 is caused by mutations in the OFD1 gene. OFD1 localizes to both centrosomes and basal bodies within the human genetic cellular structure. This suggests that this syndrome may fall into a broad category of ciliary diseases. The ciliary organelles are present in many cellular types throughout the human body. The cilia defects adversely affect numerous critical developmental signaling pathways essential to cellular development.[2]
Other types include:
- OMIM: 252100 Mohr syndrome; Orofaciodigital syndrome 2 at NIH's Office of Rare Diseases
- OMIM: 258860 Orofaciodigital syndrome 4 at NIH's Office of Rare Diseases
- OMIM: 300238 Orofaciodigital syndrome, Shashi type at NIH's Office of Rare Diseases
- OMIM: 277170 Varadi Papp syndrome; OFD6 at NIH's Office of Rare Diseases
Relation to other rare genetic disorders
Recent findings in genetic research have suggested that a large number of genetic disorders, both genetic syndromes and genetic diseases, that were not previously identified in the medical literature as related, may be, in fact, highly related in the genetypical root cause of the widely varying, phenotypically-observed disorders. Thus, orofaciodigital syndrome is a ciliopathy. Other known ciliopathies include primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney disease and polycystic liver disease, nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.[2]
References
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 311200
- ^ a b c Badano JL, Mitsuma N, Beales PL, Katsanis N (2006). "The ciliopathies: an emerging class of human genetic disorders". Annu Rev Genomics Hum Genet 7: 125–48. doi:10.1146/annurev.genom.7.080505.115610. PMID 16722803.
External links
- GeneReview/NCBI/NIH/UW entry on Oral-Facial-Digital Syndrome Type I
- Orofaciodigital syndrome Thurston type at NIH's Office of Rare Diseases
- Orofaciodigital syndrome type 2 at NIH's Office of Rare Diseases
- Orofaciodigital syndrome Gabrielli type at NIH's Office of Rare Diseases
- OFD syndrome type Figuera at NIH's Office of Rare Diseases
- OFD syndrome type 8 at NIH's Office of Rare Diseases
|
Genetic disorder, organelle: Ciliopathy
|
|
| Structural |
- receptor: Polycystic kidney disease
- cargo: Asphyxiating thoracic dysplasia
- basal body: Bardet–Biedl syndrome
- mitotic spindle: Meckel syndrome
- centrosome: Joubert syndrome
|
|
| Signaling |
|
|
| Other/ungrouped |
- Alström syndrome
- Primary ciliary dyskinesia
- Senior–Løken syndrome
- Orofaciodigital syndrome 1
- McKusick–Kaufman syndrome
- Autosomal recessive polycystic kidney
|
|
See also: ciliary proteins
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
|
|
|
Sex linkage: X-linked disorders
|
|
|
X-linked recessive
|
|
| 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
|
|
| Hematologic |
- Haemophilia A
- Haemophilia B
- X-linked sideroblastic anemia
|
|
| Endocrine |
- Androgen insensitivity syndrome/Kennedy disease
- KAL1 Kallmann syndrome
- X-linked adrenal hypoplasia congenita
|
|
| 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
|
|
| 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
|
|
| Skin and related tissue |
- Dyskeratosis congenita
- Hypohidrotic ectodermal dysplasia (EDA)
- X-linked ichthyosis
- X-linked endothelial corneal dystrophy
|
|
| Neuromuscular |
- Becker's muscular dystrophy/Duchenne
- Centronuclear myopathy (MTM1)
- Conradi–Hünermann syndrome
- Emery–Dreifuss muscular dystrophy 1
|
|
| Urologic |
- Alport syndrome
- Dent's disease
- X-linked nephrogenic diabetes insipidus
|
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| Bone/tooth |
- AMELX Amelogenesis imperfecta
|
|
| No primary system |
- Barth syndrome
- McLeod syndrome
- Smith–Fineman–Myers syndrome
- Simpson–Golabi–Behmel syndrome
- Mohr–Tranebjærg syndrome
- Nasodigitoacoustic syndrome
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|
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X-linked dominant
|
|
- 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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UpToDate Contents
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English Journal
- TMEM107 is a Critical Regulator of Ciliary Protein Composition and is Mutated in Orofaciodigital Syndrome.
- Shylo NA1, Christopher KJ1, Iglesias A2, Daluiski A3, Weatherbee SD1.
- Human mutation.Hum Mutat.2015 Oct 31. doi: 10.1002/humu.22925. [Epub ahead of print]
- The proximate causes of multiple human genetic syndromes (ciliopathies) are disruptions in the formation or function of the cilium, an organelle required for a multitude of developmental processes. We previously identified Tmem107 as a critical regulator of cilia formation and embryonic organ develo
- PMID 26518474
- Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities.
- Drury S1, Williams H2, Trump N1, Boustred C1; GOSGene, Lench N1, Scott RH1, Chitty LS1,2.
- Prenatal diagnosis.Prenat Diagn.2015 Oct;35(10):1010-7. doi: 10.1002/pd.4675. Epub 2015 Sep 11.
- OBJECTIVE: In the absence of aneuploidy or other pathogenic cytogenetic abnormality, fetuses with increased nuchal translucency (NT ≥ 3.5 mm) and/or other sonographic abnormalities have a greater incidence of genetic syndromes, but defining the underlying pathology can be challenging. Here,
- PMID 26275891
- TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.
- Roberson EC1, Dowdle WE1, Ozanturk A2, Garcia-Gonzalo FR1, Li C3, Halbritter J4, Elkhartoufi N5, Porath JD4, Cope H2, Ashley-Koch A6, Gregory S2, Thomas S7, Sayer JA8, Saunier S7, Otto EA9, Katsanis N2, Davis EE2, Attié-Bitach T10, Hildebrandt F11, Leroux MR3, Reiter JF12.
- The Journal of cell biology.J Cell Biol.2015 Apr 13;209(1):129-42. doi: 10.1083/jcb.201411087.
- The Meckel syndrome (MKS) complex functions at the transition zone, located between the basal body and axoneme, to regulate the localization of ciliary membrane proteins. We investigated the role of Tmem231, a two-pass transmembrane protein, in MKS complex formation and function. Consistent with a r
- PMID 25869670
Japanese Journal
- Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies
- orofaciodigital(1型,2型) syndrome (症候群1982--概念の変遷とその今日的意義--肝・胆・膵)
- Orofaciodigital syndrome, Type I. a phenotypic and genetic analysis
Related Links
- syndrome /syn·drome/ (sin´drōm) a set of symptoms occurring together; the sum of signs of any morbid state; a symptom complex. See also entries under disease. Aarskog syndrome , Aarskog-Scott syndrome a hereditary X-linked ...
- Meaning of orofaciodigital syndrome. Pronunciation of orofaciodigital syndrome. Translations of orofaciodigital syndrome. orofaciodigital syndrome synonyms, orofaciodigital syndrome antonyms. Information about orofaciodigital ...
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