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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).[tellmegen.com] ; 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[secure.ssa.gov] Genetics Alpha-Mannosidosis is caused by mutations in the MAN2B1 gene. The MAN2B1 gene is used to make alpha-mannosidase.[evolvegene.com]

  • Fucosidosis

    The defects in enzyme activity are primarily associated with genetic mutation of the genes that codes for a particular mannosidase isoenzyme.[icd10data.com] Lysosomal storage disease caused by defective alpha-l-fucosidase and accumulation of fucose containing glycoconjugates; clinical symptoms include psychomotor deterioration[icd10data.com] Diseases caused by the loss of one or more enzymes involved in the hydrolysis of mannoside linkages (mannosidases).[icd10data.com]

  • Growth Failure

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

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

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

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

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

    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.[els.net] Affected children have a short stature with an average height below the 5th percentile. Bone age is delayed in the first decade of life.[content.sciendo.com] […] that grow together (synophrys); long, curly eyelashes; and/or excessive hair growth on various areas of the body (hypertrichosis).[rarediseases.org]

  • 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.[ncbi.nlm.nih.gov]

    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.[ncbi.nlm.nih.gov] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net] Facial characteristics include long eyelashes, thick or arched eyebrows with a lateral flare, and downslanting and vertically narrow palpebral fissures.[uniprot.org]

    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.[ghr.nlm.nih.gov] […] lungs Cloverleaf skull Feeding difficulties in infancy Rare Symptoms - Less than 30% cases Smooth philtrum Hypoglycemia Talipes Hyperhidrosis Mandibular prognathia Thick eyebrow[mendelian.co] Thanatophoric dysplasia is also known by the names: Dwarf, thanatophoric Thanatophoric dwarfism Thanatophoric short stature Symptoms of Thanatophoric Dysplasia Unfortunately[disabled-world.com]

    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.[cafamily.org.uk] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[ispub.com] The clinical data of our cohort evidenced frequent signs such as arched eyebrows, epicanthus, synophrys and/or frontal hypertrichosis and broad phalanges that, previously[ncbi.nlm.nih.gov]

    Missing: Caused by Mutation in the Alpha-Mannosidase Gene