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2,207 Possible Causes for Mutation in the ALMS1 Gene, No Polydactyly, Onset of Renal Dysfunction in Early Childhood

  • Alstrom Syndrome

    Mutations in the ALMS1 gene have been found to be causative for AS with a total of 79 disease-causing mutations having been described.[ncbi.nlm.nih.gov] […] childhood, progressive neurosensory hearing loss, diabetes mellitus, acanthosis nigricans, hypogonadism with normal secondary sex characteristics, and kyphoscoliosis without polydactyly[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]

  • Bardet-Biedl Syndrome Type 11

    […] in the ALMS1 gene and characterized by retinal dystrophy, sensorineural hearing loss, early-onset obesity with severe type 2 diabetes mellitus and metabolic syndrome, dilated[frontiersin.org] Polydactyly-type limb anomalies - these may be the only feature present at birth and are reported in 63-81% of patients.[patient.info] Alström syndrome is caused by mutations in the gene ALMS1.[blueprintgenetics.com]

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

    This genetic disorder is caused by a mutation of the ALMS1 gene. The gene mutation is inherited as an autosomal recessive trait.[en.wikipedia.org] Richieri Costa Silveira Pereira syndrome Richieri-Costa Colletto Otto syndrome Right atrium familial dilatation Right ventricle hypoplasia Rigid mask like face deafness polydactyly[mindmappedia.com] […] syndrome Richter syndrome Rickets Rickettsial disease Rickettsiosis Rieger syndrome Right atrium familial dilatation Right ventricle hypoplasia Rigid mask like face deafness polydactyly[fact-index.com]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Microcephalic Primordial Dwarfism due to ZNF335 Deficiency

    Bardet-Biedl Syndrome Sanger Sequencing of the BBS1 gene Bardet-Biedl Syndrome Bardet Bield Mutations Detection in 14 genes: BBS1,BBS2,BBS3,BBS4,BBS5,BBS6,BBS7,BBS8,BBS9,[pentacorelab.hu] […] syndrome Short rib-polydactyly syndrome, Beemer-Langer type Short rib-polydactyly syndrome, Majewski type Short rib-polydactyly syndrome, Saldino-Noonan type Short rib-polydactyly[se-atlas.de] Syndrome 2 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 MELAS Mental Retardation , Autosomal Dominant 20 Mental Retardation , Autosomal Dominant 35[familydiagnosis.com]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Schneckenbecken Dysplasia

    […] in the ALMS1 gene.[amp.pharm.mssm.edu] ) asphyxiating thoracic dysplasia (Jeune syndrome) Ellis-van Creveld syndrome (chondroectodermal dysplasia) short-rib dysplasias with polydactyly (Short rib-polydactyly syndromes[humpath.com] Syndrome Polydactyly With Neonatal Chondrodystrophy, Type I Short Rib-Polydactyly Syndrome, Type I Short Rib-Polydactyly Syndrome, Type IIb Short Rib-Polydactyly Syndrome[ukgtn.nhs.uk]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Acanthosis Nigricans

    AS is caused by mutations in the ALMS1 gene, which is located at chromosome 2p13. The life span of patients with AS rarely goes beyond an age of 40 years.[ncbi.nlm.nih.gov] […] acanthosis nigricans of the neck, axillae, the external genitalia and antecubital regions, generalized lanugo, mildly decreased subcutaneous fat, dysmorphic facial features, and polydactyly[ncbi.nlm.nih.gov]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • X-linked Intellectual Disability-Retinitis Pigmentosa Syndrome

    Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. Nat Genet. 2002;31:79-83. Hearn T, Spalluto C, Phillips VJ, et al.[rarediseases.org] The fingers tend to be short with occasional webbing between some of them, and on rare occasions, there may be polydactyly.[dnatesting.uchicago.edu] […] syndrome Short rib-polydactyly syndrome, Beemer-Langer type Short rib-polydactyly syndrome, Majewski type Short rib-polydactyly syndrome, Saldino-Noonan type Short rib-polydactyly[se-atlas.de]

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

    Alström syndrome is caused by bilalellic mutations in the ALMS1 gene OMIM 203800, located on chromosome 2p13.[entokey.com] Abnormality of the ribs Postaxial polydactyly Talipes Short humerus Joint stiffness Polydactyly Coma Abnormality of the skeletal system Talipes equinovarus Flexion contracture[mendelian.co] In this case polydactyly is typically mesaxial with Y-shaped metacarpals.[ojrd.biomedcentral.com]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Obesity

    Whole exome sequencing was performed on genomic DNA extracted from whole blood of the patient which revealed a homozygous nonsense variant (c.2816T A) in exon 8 of ALMS1 gene[ncbi.nlm.nih.gov] Polydactyly can be associated with ciliopathy. A patient with Bardet-Biedl syndrome requires multi-specialist care.[ncbi.nlm.nih.gov] The mutation was confirmed by Sanger sequencing. Exome sequencing was helpful in establishing diagnosis of Alstrom syndrome in this patient.[ncbi.nlm.nih.gov]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Nephronophthisis 3

    Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. Nat Genet. 2002; 31 :79–83. [ PubMed ] [ Google Scholar ] 131.[ncbi.nlm.nih.gov] […] cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly[genecards.org] […] obesity, retinal dystrophy, and micropenis (MORM syndrome) INVS Nephronophthisis IQCB1 Senior-Loken syndrome KIAA0586 Joubert syndrome, Short rib thoracic dysplasia with polydactyly[genda.com.ar]

    Missing: Onset of Renal Dysfunction in Early Childhood

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