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: 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: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		0.010 GeneticVariation disease BEFREE These different functions of rotatin explain why RTTN mutations can lead to heterogeneous cerebral malformations, both related to proliferation and migration defects. 30879067 2019
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: C0302142
Disease: Deformity
Deformity 		0.010 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: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 GeneticVariation disease BEFREE A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern. 29356416 2018
CUI: C1863516
Disease: Microcephaly with Simplified Gyral Pattern
Microcephaly with Simplified Gyral Pattern 		0.010 GeneticVariation disease BEFREE The present study confirms the involvement of RTTN gene mutations in microcephaly with simplified gyral pattern and describes the observed abnormal neuropathological findings. 29356416 2018
CUI: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		0.010 GeneticVariation disease BEFREE Biallelic mutations in the RTTN gene have been reported in association with microcephaly, short stature, developmental delay and malformations of cortical development. 29883675 2018
CUI: C0011603
Disease: Dermatitis
Dermatitis 		0.010 GeneticVariation disease 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: C0022548
Disease: Keloid
Keloid 		0.010 GeneticVariation disease BEFREE rs181924090 (11p15.5, SIRT3), rs151091483 (17p13.1, MYH8), and rs183178644 (6p25.3, HUS1B) are new potential SNPs associated with KD formation, especially closely related to tumor behaviors as KD is, whereas rs141156594 (18q22.2, RTTN) is a new SNP involved in the extracellular matrix formation in wound healing. 25305228 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation group BEFREE rs181924090 (11p15.5, SIRT3), rs151091483 (17p13.1, MYH8), and rs183178644 (6p25.3, HUS1B) are new potential SNPs associated with KD formation, especially closely related to tumor behaviors as KD is, whereas rs141156594 (18q22.2, RTTN) is a new SNP involved in the extracellular matrix formation in wound healing. 25305228 2015
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.020 GeneticVariation disease 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: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.020 GeneticVariation 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: 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: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		0.040 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: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		0.040 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: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		0.040 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: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		0.040 GeneticVariation disease BEFREE RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans. 26608784 2015
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 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: 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 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 RTTN mutations therefore link aberrant ciliary function to abnormal development and organization of the cortex in human individuals. 22939636 2012