Pituitary Hormone Deficiency, Combined, 6; Cphd6
Genes related to Pituitary Hormone Deficiency, Combined, 6; Cphd6
- OTX2
Clinical Features
Phenotypes and symptoms related to Pituitary Hormone Deficiency, Combined, 6; Cphd6
- Short stature
- Ectopic posterior pituitary
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Pituitary Hormone Deficiency, Combined, 6; Cphd6 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
Leber Congential Amaurosis Panel (MitomeNGS).
By Baylor Miraca Genetics Laboratories (United States).
RPE65, TULP1, RPGRIP1, CABP4, NMNAT1, RD3, RDH12, SPATA7, CRB1, CRX, IQCB1, CEP290, LCA5, AIPL1, GUCY2D, IMPDH1, KCNJ13, LRAT, OTX2
Specificity
6 %
Genes
100 % |
OTX2 Familial Mutation/Variant Analysis.
By Baylor Miraca Genetics Laboratories (United States).
OTX2
Specificity
100 %
Genes
100 % |
OTX2 Prenatal Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
OTX2
Specificity
100 %
Genes
100 % |
OTX2 Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
OTX2
Specificity
100 %
Genes
100 % |
Leber Congenital Amaurosis Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RPE65, TULP1, RPGRIP1, CABP4, NMNAT1, CLUAP1, RD3, RDH12, SPATA7, CRB1, CRX, IQCB1, CEP290, IFT140, LCA5, AIPL1, DTHD1, GDF6, GUCY2D, IMPDH1 , (...)
View the complete list with 4 more genes
Specificity
5 %
Genes
100 % |
Macular Degeneration Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RPGR, TIMP3, BEST1, C1QTNF5, ELOVL4, RP1L1, CDH3, RAX2, IMPG2, HMCN1, CNGB3, CTNNA1, MFSD8, DRAM2, EFEMP1, ABCA4, FBLN5, FSCN2, GUCA1B, IMPG1 , (...)
View the complete list with 4 more genes
Specificity
5 %
Genes
100 % |
Microphthalmia, Pituitary Hormone Deficiency, Retinal Dystrophy - OTX2 Sequencing.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).
OTX2
Specificity
100 %
Genes
100 % |
You can get up to 75 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NEUROBLASTOMA, SUSCEPTIBILITY TO BLAU SYNDROME; BLAUS AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A6 CLASSIC MULTIMINICORE MYOPATHY LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO; APLD OSTEOGENESIS IMPERFECTA, TYPE XI; OI11