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187 Possible Causes for See also Autosomal Recessive Form

  • Diabetes Mellitus

    […] causes a transient form of NDM; see TNDM section ) Treated with insulin in the past but often can be treated with oral sulfonylureas PNDM GCK glucokinase Rare 1 week Autosomal[web.archive.org] recessive Yes Permanent Insulin PNDM IPF1 ; also known as PDX1 insulin promoter factor 1 Rare 1 week Autosomal recessive Yes Permanent Treat to replace endocrine and exocrine[web.archive.org] […] often can be treated with oral sulfonylureas PNDM ABCC8 SUR1-sulfonylurea receptor 1 Rare 1 to 3 months Autosomal dominant (12% of NDM) Spontaneous No Permanent (This gene also[web.archive.org]

  • Acidosis

    Hereditary dRTA subtypes include autosomal dominant (AD) and autosomal recessive (AR) dRTA (see these terms).[orpha.net] A recessive subtype of dRTA associated with anemia has also been described in Southeast Asia. AR forms are frequently diagnosed in infants and young children.[orpha.net]

  • Growth Failure

    IGHD IB: This milder form of IGHD also has an autosomal recessive mode of inheritance.[analesdepediatria.org] […] have been found to cause the IGHD IA phenotype, this disorder is best described as complete GHD due to heterogeneous GH1 gene defects, rather than gene deletions alone (see[analesdepediatria.org]

  • Diabetes Mellitus Type 2

    […] causes a transient form of NDM; see TNDM section ) Treated with insulin in the past but often can be treated with oral sulfonylureas PNDM GCK glucokinase Rare 1 week Autosomal[web.archive.org] recessive Yes Permanent Insulin PNDM IPF1 ; also known as PDX1 insulin promoter factor 1 Rare 1 week Autosomal recessive Yes Permanent Treat to replace endocrine and exocrine[web.archive.org] […] often can be treated with oral sulfonylureas PNDM ABCC8 SUR1—sulfonylurea receptor 1 Rare 1 to 3 months Autosomal dominant (12% of NDM) Spontaneous No Permanent (This gene also[web.archive.org]

  • Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset

    HMN has also been referred to as distal spinal muscular atrophy (DSMA). DSMA here refers to the autosomal recessive forms of HMN.[genome.jp] See also H00455 Spinal muscular atrophy (SMA).[genome.jp]

  • Distal Hereditary Motor Neuropathy Type 1

    HMN has also been referred to as distal spinal muscular atrophy (DSMA). DSMA here refers to the autosomal recessive forms of HMN.[genome.jp] See also H00455 Spinal muscular atrophy (SMA).[genome.jp]

  • Isolated Congenital Sclerocornea

    Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal[mendelian.co] Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported.[mendelian.co] HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRDS Is also known as hypoparathyroidism with short stature, mental retardation, and seizures, sanjad-sakati syndrome,[mendelian.co]

  • Kyphoscoliosis

    MFM7 is an autosomal recessive form, clinically characterized by early childhood onset of slowly progressive muscle weakness and mild atrophy primarily affecting the lower[uniprot.org] See also OMIM:617114 Keywords - Disease i Myofibrillar myopathy Organism-specific databases Polymorphism and mutation databases PTM / Processing i Molecule processing Feature[uniprot.org]

  • Hereditary Hyperekplexia

    […] type 4 Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive[amp.pharm.mssm.edu] Lynch syndrome:Hereditary cancer-predisposing syndrome Juvenile neuronal ceroid lipofuscinosis Ataxia, spastic, 4, autosomal recessive Leiner disease C1q deficiency Hemochromatosis[amp.pharm.mssm.edu]

  • Cerebral Palsy

    Also see spastic cerebral palsy (603513).[ncbi.nlm.nih.gov] Ataxic cerebral palsy accounts for 5 to 10% of all forms of CP, and approximately 50% of ataxic CP is thought to be inherited as an autosomal recessive trait (McHale et al[ncbi.nlm.nih.gov]

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