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2,194 Possible Causes for Autosomal Dominant Inheritance Reported

  • Poland Syndrome

    Genetic counseling Poland syndrome is most commonly a sporadic condition, but rare familial cases have been reported, compatible with an autosomal dominant mode of inheritance[orpha.net] A few cases have been reported as being inherited as an autosomal dominant trait.[dovemed.com]

  • Ovarian Cyst

    […] mode is the most common mode of inheritance, there are reports of autosomal recessive inheritance as well. [6] PC has been classified into four types, the common clinical[e-ijd.org] It is of two types, type I due to mutation in genes 6a and 16, and 6b and 17 in type II with an autosomal dominant inheritance in both types.[idoj.in] Heterozygous mutations involving keratins K6a or K16 are associated with PC-1 whereas those involving K6B and K17 are associated with PC-2. [5] Although, autosomal dominant[e-ijd.org]

  • Blue Rubber Bleb Nevus Syndrome

    The disorder affects both sexes equally and the occurrence is mostly sporadic except for a few reports of cases with autosomal dominant inheritance pattern.[ncbi.nlm.nih.gov] Its presentation is usually sporadic, although cases of autosomal dominant inheritance have been reported.[ncbi.nlm.nih.gov] About 200 cases of blue rubber bleb nevus syndrome (BRBNS) have been reported in the literature.[ncbi.nlm.nih.gov]

  • Fibroma

    The rare gigantiform cementoma is related to an autosomal dominant inheritance in some cases whereas others are ‘‘familial’’.[intechopen.com] Among the few cases that have been reported, the gene appears to have a high level of penetrance with variable expressivity ( Young, Markowitz et al. 1989 ; Finical, Kane[intechopen.com]

  • Restless Legs Syndrome

    Three loci for RLS on chromosomes 12q, 14q, and 9p (RLS-1, RLS-2, and RLS-3) have been reported with a recessive (RLS-1) and autosomal dominant (RLS-2, RLS-3) mode of inheritance[ncbi.nlm.nih.gov] BACKGROUND: Ekboms syndrome is an uncommon, chronic disorder that often has a familial basis, with evidence of autosomal dominant inheritance.[ncbi.nlm.nih.gov] RLS familial aggregation is frequent, accounting for up to 60–65% of reported cases; inheritance follows an autosomal dominant pattern in at least one‐third of familial cases[dx.doi.org]

  • Meniere's Disease

    In such cases, the disorder appears to have autosomal dominant or autosomal recessive inheritance.[rarediseases.org] However, rare familial forms of Ménière’s Disease have been reported in the medical literature.[rarediseases.org]

  • Osteoporosis

    Risk to Family Members — Autosomal Dominant Inheritance Parents of a proband To date, all reported individuals diagnosed with the autosomal dominant form of hypophosphatasia[web.archive.org] Risk to Family Members – Autosomal Dominant Inheritance Parents of a proband To date, all reported individuals diagnosed with the autosomal dominant form of hypophosphatasia[ncbi.nlm.nih.gov] Autosomal dominant hypophosphatasia. To date, all probands have inherited a pathogenic variant from a parent; de novo pathogenic variants have not been reported.[web.archive.org]

  • Hyponatremia

    In autosomal recessive hypophosphatasia, rare de novo mutations have been reported.[orpha.net] Risk to Family Members – Autosomal Dominant Inheritance Parents of a proband To date, all reported individuals diagnosed with the autosomal dominant form of hypophosphatasia[ncbi.nlm.nih.gov] While it is possible to have autosomal dominant HPP due to a new mutation that was not inherited (a de novo mutation), this has never been reported in HPP.[2] Last updated[rarediseases.info.nih.gov]

  • Polycystic Ovary Syndrome

    Genetic counseling Despite the family history of consanguinity, autosomal dominant inheritance with reduced penetrance was considered as the most likely mode of transmission[orpha.net] The findings were considered consistent with autosomal dominant inheritance for a 'sizeable fraction of families.'[web.archive.org] […] contrast to the syndrome of primary hypergonadotropic hypogonadism and partial alopecia (see this term), streak or absent ovaries, hypoplastic uterus, and microcephaly were not reported[orpha.net]

  • Neuronal Ceroid Lipofuscinosis Type 10

    Most forms are inherited in an autosomal recessive manner; however, autosomal dominant inheritance has been reported in one adult-onset form ( neuronal ceroid lipofuscinosis[rarediseases.info.nih.gov]

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