Create issue ticket

3,949 Possible Causes for Alopecia, Mutation in the EIF2AK3 Gene, Onset of Renal Dysfunction in Early Childhood

  • Wolcott-Rallison Syndrome

    Neurodegeneration due to cerebral folate transport deficiency 613068 FOXG1 14q12 Rett syndrome, congenital variant 613454 FOXN1 17q11.2 T-cell immunodeficiency, congenital alopecia[institutobernabeu.com] Initially, patients with neonatal or early-childhood onset diabetes are possible candidates for having Wolcott–Rallison syndrome.[en.wikipedia.org] Mutations in the EIF2AK3 gene have been identified in patients with Wolcott-Rallison syndrome - a rare autosomal recessive disorder associated with permanent neonatal insulin-dependent[ncbi.nlm.nih.gov]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    Scoliosis Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia acromesomelic dysplasia Acropectorovertebral Dysplasia Akaba Hayasaka Syndrome alopecia[rgd.mcw.edu] This was the case for one of our samples, in which a complete clinical definition allowed us to identify a pathogenic mutation in the EIF2AK3 gene, with a depth of coverage[journals.plos.org] Congenital malformation H00740 Ichthyosis follicularis, alopecia, and photophobia syndrome Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare X-linked[kegg.jp]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Alstrom Syndrome

    […] year-old caucasian male with hearing and visual loss, short stature, insulin resistant diabetes, dilated cardiomyopathy, hepatic and renal dysfunction, hypertension, and alopecia[ncbi.nlm.nih.gov] Sufferers often develop early-onset type 2 diabetes, renal and hepatic dysfunction affecting the liver and kidneys, bladder and bowel problems, and cardiomyopathy, where the[dailymail.co.uk] […] hypogonadism, short stature, and wide feet in both brothers, whereas hearing loss, renal failure, abnormal digits, history of developmental delay, scoliosis, hypertension, and alopecia[ncbi.nlm.nih.gov]

    Missing: Mutation in the EIF2AK3 Gene
  • Iron Deficiency

    Angular cheilitis (sore lesions at the corners of the mouth) In rare cases, children with iron deficiency anemia may also experience: Nail changes (koilonychia or spoon nails) Alopecia[danafarberbostonchildrens.org]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Menopause

    […] the thighs Cause is not known (thought to be neurological) Hirsutism (abnormal hair growth in women) Facial hirsutism is very common in post-menopausal women not on HRT Alopecia[dermnetnz.org]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Dermatitis

    Some patients have a personal or family history of other autoimmune disorders including thyroid disease, pernicious anaemia, type 1 diabetes, vitiligo, Addison disease and alopecia[web.archive.org] Some patients have a personal or family history of other autoimmune diseases including thyroid disease, pernicious anaemia, type 1 diabetes, vitiligo, Addison disease and alopecia[dermnetnz.org] Schabath and Madeleine Duvic, History of atopy or autoimmunity increases risk of alopecia areata, Journal of the American Academy of Dermatology, 61, 4, (581), (2009).[doi.org]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Polycystic Ovary Syndrome

    Logistic regression analysis showed that there were significant associations between sexual function score and the literacy, alopecia, and infertility.[ncbi.nlm.nih.gov] Alopecia Syndrome.[malacards.org] […] when targeting hirsutism and alopecia.[doi.org]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Cerebellotrigeminal Dermal Dysplasia

    Our patients had rhombencephalosynapsis and alopecia, but none had trigeminal dysfunction.[ncbi.nlm.nih.gov] WRS is caused by mutations in the gene encoding eukaryotic translation initiation factor 2a-kinase (EIF2AK3), an ER transmembrane protein, which plays a key role in translation[docksci.com] Alopecia is seen in all previously reported cases of GLHS.[ncbi.nlm.nih.gov]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Contact Dermatitis

    Rogaine (minoxidil), which is used for male pattern balding, can also be used for alopecia areata.[dermrochester.com] Alopecia/Hair Loss Disease, medication, genetics, hormones, or localized trauma may be responsible for hair loss.[dermrochester.com] There is no cure for alopecia areata, but various treatments such as anti-inflammatory drugs and topical immunotherapy can help prompt new hair growth.[dermrochester.com]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Blepharitis

    […] state is proposed as the cause of a disorder affecting a father and son with chronic dermatitis, purulent blepharitis with corneal ulceration, and scarring pyodermatous alopecia[ncbi.nlm.nih.gov] Patients may exhibit alopecia areata of eyelashes and/or growth misdirection, trichiasis.[en.wikipedia.org]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood

Similar symptoms