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1,341 Possible Causes for Caused by Mutation in the Alpha-Mannosidase Gene, Hypertrichosis of Eyebrows, Short Stature in Children

  • Alpha-Mannosidosis

    Alpha-Mannosidosis is hereditary, is transmitted in an autosomal recessive manner and is caused by mutations in the MAN2B1 gene, located on chromosome 19 (19 p13.2-q12).[] ; Mannosidosis DESCRIPTION Alpha Mannosidosis is a rare inherited metabolic storage disease caused by a mutation in the gene for alpha-mannosidase, an enzyme that normally[] Genetics Alpha-Mannosidosis is caused by mutations in the MAN2B1 gene. The MAN2B1 gene is used to make alpha-mannosidase.[]

  • Fucosidosis

    The defects in enzyme activity are primarily associated with genetic mutation of the genes that codes for a particular mannosidase isoenzyme.[] Lysosomal storage disease caused by defective alpha-l-fucosidase and accumulation of fucose containing glycoconjugates; clinical symptoms include psychomotor deterioration[] Diseases caused by the loss of one or more enzymes involved in the hydrolysis of mannoside linkages (mannosidases).[]

  • Growth Failure

    […] lead to short stature.[] Children with short stature in whom no specific cause is identified may be diagnosed with idiopathic short stature.[] When examined further, causes for short stature within this group of children included familial short stature (37%), constitutional delay (27%), a combination of familial[]

    Missing: Caused by Mutation in the Alpha-Mannosidase Gene Hypertrichosis of Eyebrows
  • Schwartz-Jampel Syndrome

    stature and skeletal dysplasia.[] The child had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears, micrognathia, short stature[] We report six Indian children with this disorder presenting with different clinical manifestations.[]

    Missing: Caused by Mutation in the Alpha-Mannosidase Gene
  • SHORT Syndrome

    Short Stature in Children Symptoms Short parents tend to have short children.[] We and others noticed that some patients had features reminiscent of CdLS, particularly where facial hypertrichosis and prominent eyebrows were present.[] […] lead to short stature.[]

    Missing: Caused by Mutation in the Alpha-Mannosidase Gene
  • Autosomal Dominant Mental Retardation Type 21

    Rafiq MA, Kuss AW, Puettmann L, et al. (2011) Mutations in the alpha 1,2‐mannosidase gene, MAN1B1, cause autosomal‐recessive intellectual disability.[] Affected children have a short stature with an average height below the 5th percentile. Bone age is delayed in the first decade of life.[] […] that grow together (synophrys); long, curly eyelashes; and/or excessive hair growth on various areas of the body (hypertrichosis).[]

  • Vitamin D Deficiency

    We report a rare case of a 27-year-old Asian female presenting with simultaneous brown tumours in the maxilla and mandible secondary to vitamin D deficiency which was a result of dietary deficiency and lack of exposure to sunlight.[]

    Missing: Caused by Mutation in the Alpha-Mannosidase Gene Hypertrichosis of Eyebrows
  • Wiedemann-Steiner Syndrome

    Investigation of pituitary function should be undertaken in children with WSS and short stature.[] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[] Facial characteristics include long eyelashes, thick or arched eyebrows with a lateral flare, and downslanting and vertically narrow palpebral fissures.[]

    Missing: Caused by Mutation in the Alpha-Mannosidase Gene
  • Thanatophoric Dysplasia

    Dwarf, thanatophoric thanatophoric dwarfism thanatophoric short stature Cohen MM Jr. Some chondrodysplasias with short limbs: molecular perspectives.[] […] lungs Cloverleaf skull Feeding difficulties in infancy Rare Symptoms - Less than 30% cases Smooth philtrum Hypoglycemia Talipes Hyperhidrosis Mandibular prognathia Thick eyebrow[] Thanatophoric dysplasia is also known by the names: Dwarf, thanatophoric Thanatophoric dwarfism Thanatophoric short stature Symptoms of Thanatophoric Dysplasia Unfortunately[]

    Missing: Caused by Mutation in the Alpha-Mannosidase Gene
  • Rubinstein-Taybi Syndrome

    Children with RTS usually have a normal birth weight, but subsequent growth is poor, with most children being of short stature with a small head size.[] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[] The clinical data of our cohort evidenced frequent signs such as arched eyebrows, epicanthus, synophrys and/or frontal hypertrichosis and broad phalanges that, previously[]

    Missing: Caused by Mutation in the Alpha-Mannosidase Gene