RTTN, rotatin, 25914

N. diseases: 100; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		0.350 GeneticVariation disease BEFREE These findings reveal that RTTN contributes to building full-length centrioles and illuminate the molecular mechanism through which the RTTN (A578P) mutation causes primary microcephaly.Mutations in many centriolar protein-encoding genes cause primary microcephaly. 28811500 2017
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		0.350 GeneticVariation disease BEFREE Biallelic variants in RTTN cause primary microcephaly in infants. 29967526 2018
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		0.350 GeneticVariation disease BEFREE RTTN mutations have been reported in seven families and are associated with two phenotypes: polymicrogyria associated with seizures and primary microcephaly associated with primordial dwarfism. 29356416 2018
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		0.350 GeneticVariation disease BEFREE RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans. 26608784 2015
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		0.350 GeneticVariation disease BEFREE Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis. 26940245 2016
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.150 GeneticVariation disease BEFREE Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations. 29883675 2018
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.150 GeneticVariation disease BEFREE Biallelic deleterious variants in RTTN, which encodes rotatin, are associated with primary microcephaly, polymicrogyria, seizures, intellectual disability, and primordial dwarfism in human infants. 29967526 2018
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.150 GeneticVariation disease BEFREE RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans. 26608784 2015
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.150 GeneticVariation disease BEFREE RTTN mutations have been reported in seven families and are associated with two phenotypes: polymicrogyria associated with seizures and primary microcephaly associated with primordial dwarfism. 29356416 2018
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.150 GeneticVariation disease BEFREE Autosomal recessive missense Rotatin (RTTN) mutations are responsible for syndromic forms of malformation of cortical development, ranging from isolated polymicrogyria to microcephaly associated with primordial dwarfism and other major malformations. 30121372 2018
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.140 Biomarker disease BEFREE Our results expand the phenotype of RTTN-related disorders, hitherto limited to polymicrogyria, to include microcephalic primordial dwarfism with a complex brain phenotype involving simplified gyration. 26608784 2015
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.140 GeneticVariation disease BEFREE Homozygous mutations in RTTN gene have been described in bilateral diffuse isolated polymicrogyria and, more recently, in microcephalic primordial dwarfism (PD). 26940245 2016
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.140 GeneticVariation disease BEFREE Autosomal recessive missense Rotatin (RTTN) mutations are responsible for syndromic forms of malformation of cortical development, ranging from isolated polymicrogyria to microcephaly associated with primordial dwarfism and other major malformations. 30121372 2018
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.140 GeneticVariation disease BEFREE RTTN mutations have been reported in seven families and are associated with two phenotypes: polymicrogyria associated with seizures and primary microcephaly associated with primordial dwarfism. 29356416 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.130 GeneticVariation disease BEFREE Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations. 29883675 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.130 GeneticVariation disease BEFREE Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction. 30121372 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.130 GeneticVariation disease BEFREE Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures. 29967526 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.120 GeneticVariation phenotype BEFREE Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures. 29967526 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.120 GeneticVariation phenotype BEFREE RTTN mutations have been reported in seven families and are associated with two phenotypes: polymicrogyria associated with seizures and primary microcephaly associated with primordial dwarfism. 29356416 2018
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.060 GeneticVariation group BEFREE RTTN mutations therefore link aberrant ciliary function to abnormal development and organization of the cortex in human individuals. 22939636 2012
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.060 GeneticVariation group BEFREE Autosomal recessive missense Rotatin (RTTN) mutations are responsible for syndromic forms of malformation of cortical development, ranging from isolated polymicrogyria to microcephaly associated with primordial dwarfism and other major malformations. 30121372 2018
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.060 GeneticVariation group BEFREE RTTN mutations have previously shown to link aberrant ciliary function with abnormal development and organization of the human cerebral cortex. 29883675 2018
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.060 Biomarker group BEFREE However, the function of rotatin in brain development is largely unknown and the molecular disease mechanism underlying cortical malformations has not yet been elucidated. 30879067 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.060 GeneticVariation group BEFREE A targeted exome sequencing of morbid genes causing cerebral malformations identified novel RTTN compound heterozygous mutations in a family where three pregnancies were terminated because a severe fetal microcephaly was diagnosed. 29356416 2018
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.060 GeneticVariation group BEFREE Biallelic and pathogenic variants in the RTTN gene, encoding the centrosomal protein Rotatin, are associated with variable degrees of neurodevelopmental abnormalities, microcephaly, and extracranial malformations. 30927481 2019