Gene Role Disease OMIM Descriptions Sources
FMR1 causing FRAX 300624 The disease is caused by mutations affecting the gene represented in this entry. Common genetic disease (has a prevalence of one in every 2000 children) which is characterized by moderate to severe mental retardation, macroorchidism (enlargement of the testicles), large ears, prominent jaw, and high-pitched, jocular speech. The defect in most fragile X syndrome patients results from an amplification of a CGG repeat region which is directly in front of the coding region. [read more] 18664458
8401578
7688265
17850748
8490650
7633450
9659908
15805463
FMR1 causing POF1 311360 The disease is caused by mutations affecting the gene represented in this entry. An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. [read more] 9719368
FN1 causing GFND2 601894 The disease is caused by mutations affecting the gene represented in this entry. Genetically heterogeneous autosomal dominant disorder characterized clinically by proteinuria, microscopic hematuria, and hypertension that leads to end-stage renal failure in the second to fifth decade of life. [read more] 18268355
FOXC1 causing IGDA 601631 The disease is caused by mutations affecting the gene represented in this entry. Autosomal dominant phenotype characterized by iris hypoplasia, goniodysgenesis, and juvenile glaucoma. [read more]
FOXC2 causing LYD 153400 The disease is caused by mutations affecting the gene represented in this entry. A disorder characterized by primary limb lymphedema usually starting at puberty (but in some cases later or at birth) and associated with distichiasis (double rows of eyelashes, with extra eyelashes growing from the Meibomian gland orifices). Drooping of the upper eyelid (ptosis) is a variable feature of the lymphedema-distichiasis syndrome, occurring in about 30% of patients. [read more] 11499682
FOXC2 causing LYYN 153300 The disease is caused by mutations affecting the gene represented in this entry. A disorder characterized by yellow, dystrophic, thick and slowly growing nails, associated with lymphedema and respiratory involvement. Lymphedema occurs more often in the lower limbs. It can appear at birth or later in life. Onset generally follows the onset of ungual abnormalities. [read more]
FOXD3 susceptibility AIS1 607836 Disease susceptibility is associated with variations affecting the gene represented in this entry. An autoimmune disorder characterized by the association of vitiligo with autoimmune thyroiditis (Hashimoto thyroiditis). [read more] 16098053
FOXE1 causing BLS 241850 The disease is caused by mutations affecting the gene represented in this entry. A disease characterized by thyroid agenesis, cleft palate and choanal atresia. [read more] 9697705
12165566
FOXF1 causing ACDMPV 265380 The disease is caused by mutations affecting the gene represented in this entry. A rare developmental disorder characterized by abnormal development of the capillary vascular system in the lungs. Histological features include failure of formation and ingrowth of alveolar capillaries, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. Affected infants present with respiratory distress and the disease is fatal within the newborn period. Additional features include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs. ACDMPV is a rare cause of persistent pulmonary hypertension of the newborn, an abnormal physiologic state caused by failure of transition of the pulmonary circulation from the high pulmonary vascular resistance of the fetus to the low pulmonary vascular resistance of the newborn. [read more] 19500772
FOXJ1 susceptibility ALRH 607154 Disease susceptibility may be associated with variations affecting the gene represented in this entry. A common disease with complex inheritance characterized by mucosal inflammation caused by allergen exposure. [read more] 16518568