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a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"

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(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

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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)

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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]

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

This genetic disorder article is a stub. You can help Wikipedia by expanding it.

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1. 常染色体優性多発性嚢胞腎の診断およびスクリーニング diagnosis of and screening for autosomal dominant polycystic kidney disease

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