Genetic Disorders PDF
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This document provides a summary of different genetic disorders categorized by inheritance patterns such as Autosomal Dominant, Autosomal Recessive, X-Linked, and Mitochondrial. It also lists some syndromic and non-syndromic conditions. The document may be used as a reference guide for medical professionals or students studying genetics.
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Autosomal dominant: - A single copy of the mutated gene can cause the disorder - Each affected individual has a 50% chance of passing the mutant gene Autosomal recessive: - two mutant genes are necessary to cause the disorder - Carriers with one mutant gene and one normal...
Autosomal dominant: - A single copy of the mutated gene can cause the disorder - Each affected individual has a 50% chance of passing the mutant gene Autosomal recessive: - two mutant genes are necessary to cause the disorder - Carriers with one mutant gene and one normal do not typically show any phenotypical presentation - Each child of 2 carriers has a 25% chance of being affected, a 50% chance of being a carrier, and 25% chance of being non carrier/non affected. X Linked: - Mutant gene is located on the X chromosome, and one copy of the mutant gene is sufficient to cause disorder in females and males. - Affected males pass gene to their daughters and not their sons. - Affected females have 50% chance of passing gene to all children. - Males are typically more affected because of only having one x chromosome. Mitochondrial : - Mutant gene is located on the mitochondrial DNA, which is exclusive to maternal inheritance. All children of an affect mother inherit the mitochondrial mutation but only daughters pass it on. Syndromic: - affects multiple systems of the body due to a mutation in genetic coding in embryo. Syndromic conditions can be passed from parents or occur de novo (spontaneous). AUTOSOMAL DOMINANT GENETIC DISORDERS AUTOSOMAL RECESSIVE GENETIC Osteogenesis imperfecta CONDITIONS Pagets disease Jervell lange nielson Neurofibromatosis type 2 Biotinidase deficiency - CNSG Stickler syndrome Pendred syndrome Waardenburg syndrome Alstrom Crouzon syndrome – father age GJB2/DFNB1 Treacher collins DFNB59- CNSG Bracheotorenal syndrome (BOR) STRC DFNB16 DFNA1 Usher DE NOVO CONDITONS X LINKED Turner Syndrome DFNX CHARGE Alport Mitochondrial A1555G MTTS1 T7511C Syndromic conditions Non syndromic conditions Osteogenesis Imperfecta MT A1555G Jervell Lange Nielson GJB2/DFNB1 Biotinadase DFNB59 Pendred Syndrome DFNA1 Alstrom MTTS1 t7511C CHARGE STRC DFNB16 Paget’s NF2 Stickler Waardenburg Crouzon TCS BOR Usher Syndrome- CNSG Alport GENETIC CONDITIONS OI- AD, Syndromic, Conductive progressive to mixed Alstrom: AR, pass NBHS, prog SNHL Bone abnormalities Vision loss, obesity, diabetes, renal Dentogenesis imperfecta abnormality Brittle bone Blue sclera Jervell and lange neilson – syndromic, AR, Triangular face congenital bilateral profound SNHL Notched helix Long QT interval Low set ears Heart problems Fainting spells Paget’s Disease: AD, SYN, LF CHL, HF SNHL Seizures Pelvis and hip pain Bowing of lower limbs Biotinidase deficiency- AR syndrome, Spine pain progressive SNHL Numbing of limbs Seizures Overgrowth of skull or jaw. Optic atrophy Skin rash Neurofibromatosis T2 SNHL(progressive) Breathing problems Schwannomas Can cause death without intervention Tinnitus Dizziness Pendred: AR, SNHL progressive Meningiomas Vestibular dysfunction Thyroid abnormality Mito A1555G- nonsyndromic - bilateral SNHL Sticler Syndrome, bilateral HF Aminoglycosides Midface hypoplasia Retinal detachment GJB2/DFN1- NON SYNDROMIC Cleft palate - SNHL Joint hypermobility - Congenital, nonprogressive bilateral Waardenburg - Severe to profound at birth SNHL mild-profound - Protein connexin 26 White forlock Pigmentation abnormalities: hair eyes skin DFNB59 Heterochromia – wide distance between eyes SNHL Auditory neuropathy spectrum disorder Treacher Collins – CHL Abnormalities in signal transmission Underdeveloped face Down slanted eyes Smalled flat cheekbones TURNER- DE NOVO, Cleft palate Random cell division, CHL or mixed Anotia, atresia, microtia Females Short stature Crouzon syndrome Web neck ATRESIA Small jaq Craniosynotosis; premature closure and fusion of Narrow external auditory canal coronal structures Chronic otitis media beaked nose forward jaw CHARGE SYNDROME DE NOVO Unusual shaped ear, asymmetric mixed loss BOR- CHL/Mixed Congenital heart defects Ears kidneys neck Developmental delays Cataracts Reproductive system impaired Preauricular pits and tags Swallowing imparied Branchial cysts or fistulas Renal issues DFNA1- SNHL
