Create issue ticket

12 Possible Causes for All Reported Mutations Have Occurred De Novo, Alopecia

Show results in: Español

  • Dystrophic Epidermolysis Bullosa

    […] dysplasia-skin fragility syndrome is a rare disorder characterized by skin erosions, skin fragility and peeling beginning at birth or infancy that may be accompanied by alopecia[raregeneticdisorder.blogspot.com] All cases with localised DDEB have not necessarily been documented or registered in DEB databases and therefore those mutation reports are limited.[medicaljournals.se] There were patchy areas of cicatricial alopecia on the scalp and deformed blisters and erosions on the back [Figure - 1] and distal portions of the extremities.[indianjnephrol.org]

  • Hypopituitarism

    All of these mutations occurred de novo and included five nonsense, four frameshift, one deletion and two missense mutations.[web.archive.org] We have subsequently reported six patients harbouring de novo heterozygous mutations in SOX2, resulting in loss of function of the mutant protein, four of whom were previously[web.archive.org]

  • Optic Atrophy

    Growth retardation-alopecia-pseudoanodontia-optic atrophy (GAPO) syndrome (Online Mendelian Inheritance in Man [OMIM] ID 230740) is one of the rarest autosomal recessive syndromes[ncbi.nlm.nih.gov] Although almost all benign mutations were inherited, the majority of severe mutations occurred de novo.[ncbi.nlm.nih.gov] Androgenic alopecia (also known as androgenetic alopecia or alopecia androgenetica) is a common form of hair loss in both men and women.[dailystrength.org]

  • Helsmoortel-van der Aa Syndrome

    Some associated features have been noted and include alopecia, hearing loss, spastic paraplegia, myopathy, ichthyosiform dermatoses, and nail abnormalities. [1], [2], [3][ijdvl.com] reported mutations have occurred de novo; Facial dysmorphic features are variable MOLECULAR BASIS: Caused by mutation in the K(lysine) acetyltransferase 6A gene (KAT6A, 601408.0001[findzebra.com] Patients may have frontal alopecia, cardiomyopathy and testicular atrophy.[reviewofophthalmology.com]

  • Anophthalmia - Microphthalmia Syndrome

    Pituitary hypoplasia, ACC, absence of septum pellucidum 601802 182230 IKBKG Incontinentia pigmenti XL MAC 3 Retinal neovascularization Skin lesions change w/age; hypodontia, alopecia[ncbi.nlm.nih.gov] All remaining reported cases of SOX2 mutations and deletions have occurred de novo.[molvis.org] Patients may have frontal alopecia, cardiomyopathy and testicular atrophy.[reviewofophthalmology.com]

  • Ectrodactyly

    Additional abnormalities such as alopecia, cataract, absent eyebrows, and oligodontia may occur.[ncbi.nlm.nih.gov] have been previously reported in dbSNP, Exome Variant Server ( ) or the scientific literature, and all heterozygous mutations have occurred de novo.[jmg.bmj.com] […] the conformation of this region ( figures 3 and 4 , see online supplementary table S3) and shown to decrease kinase activity. 27 , 28 To our knowledge, none of these FGFR1 mutations[jmg.bmj.com]

  • Geleophysic Dysplasia

    Holoacardius amorphus Holt-Oram syndrome Homologous chimera Hyperhidrosis, premature cavities and premolar aplasia Hyperthermia-induced defect Hypogonadism, diabetes mellitus, alopecia[icd9data.com] All reported mutations have occurred as new (sporadic or de novo ) mutations, which means that in these cases the gene mutation has occurred at the time of the formation of[rarediseases.org]

  • Cerebro-Costo-Mandibular Syndrome

    Holoacardius amorphus Holt-Oram syndrome Homologous chimera Hyperhidrosis, premature cavities and premolar aplasia Hyperthermia-induced defect Hypogonadism, diabetes mellitus, alopecia[icd9data.com] reported mutations have occurred de novo; Facial dysmorphic features are variable MOLECULAR BASIS: Caused by mutation in the K(lysine) acetyltransferase 6A gene (KAT6A, 601408.0001[findzebra.com] Craniosynostosis MUSCLE, SOFT TISSUE: Hypotonia, neonatal NEUROLOGIC: [Central nervous system]; Delayed psychomotor development; Poor or absent speech; Seizures (rare) MISCELLANEOUS: All[findzebra.com]

  • Cutaneous Mastocytosis - Short Stature - Conductive Hearing Loss - Microtia

    […] of Long nose (or similar symptoms) may include: 4 Acromegaloid facial appearance syndrome (Long nose) Alagille syndrome type 1 (Long nose) Alagille syndrome (Long nose) Alopecia-contractures-dwarfism-intellectual[familydiagnosis.com] reported mutations have occurred de novo MOLECULAR BASIS: Caused by mutation in the nonselective sodium leak channel gene (NALCN, 611549.0004) Description The large number[findzebra.com] There were focal patches of alopecia with dermal hypoplasia of scalp [ [Figure 2] b and c].[meajo.org]

  • Anophthalmia or Microphthalmia - Esophageal Atresia Syndrome

    […] isolated hyperparathyroidism Familial parathyroid adenoma Familial platelet syndrome with predisposition to acute myelogenous leukemia Fibrosarcoma Frontonasal dysplasia with alopecia[csbg.cnb.csic.es] All remaining reported cases of SOX2 mutations and deletions have occurred de novo.[molvis.org] Four families have been described where SOX2 mutations were inherited from a gonosomal mosaic mother [ 25 – 28 ].[molvis.org]

Further symptoms

Similar symptoms