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: C4023736
Disease: 2-5 finger syndactyly
2-5 finger syndactyly 		0.100 Biomarker phenotype HPO
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		0.100 Biomarker disease HPO
CUI: C4022964
Disease: Abnormality of the occipital bone
Abnormality of the occipital bone 		0.100 Biomarker phenotype HPO
CUI: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		0.100 Biomarker disease HPO
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0078981
Disease: Arachnoid Cysts
Arachnoid Cysts 		0.100 Biomarker disease HPO
CUI: C0004096
Disease: Asthma
Asthma 		0.010 GeneticVariation disease BEFREE The impact of amino acid alterations in PACRG and RTTN proteins, and possible association of the sequence variants with asthma, is of uncertain significance, but their role in ciliary function may be of future interest. 30324028 2018
CUI: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		0.100 Biomarker phenotype HPO
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos 		0.100 Biomarker disease HPO
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.010 GeneticVariation disease BEFREE Herein, we report on a consanguineous family with three adult members, age 43, 57, and 60 years respectively, with primary microcephaly, developmental delay, primordial dwarfism, and brachydactyly segregating a homozygous splice site variant NM_173630.3:c.5648-5T>A in RTTN. 30927481 2019
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.100 Biomarker disease HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 Biomarker disease HPO
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		0.100 Biomarker phenotype HPO
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
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		0.030 GeneticVariation group BEFREE With time, a wide variety of other brain malformations has been ascribed to RTTN mutations, including primary microcephaly. 30879067 2019
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		0.030 GeneticVariation group BEFREE Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations. 29883675 2018
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		0.030 GeneticVariation group BEFREE We found a novel homozygous mutation in RTTN associated with microcephalic PD as well as complex brain malformations and congenital dermatitis, thus expanding the phenotypic spectrum of both RTTN-associated diseases and ciliary dysfunction. 26940245 2016
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		0.100 GeneticVariation disease CLINVAR
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		0.100 Biomarker disease HPO
CUI: C2749675
Disease: Cortical gyral simplification
Cortical gyral simplification 		0.100 Biomarker phenotype HPO