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The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
A. Abdallat–Davis–Farrage syndrome; Abetalipoproteinemia; Absent tibia-polydactyly-arachnoid cyst syndrome; Acanthosis nigricans-muscle cramps-acral enlargement syndrome
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN) is a rare progressive genetic disorder that primarily affects the nervous system and is characterized by sensorineural hearing loss, narcolepsy with cataplexy, and dementia later in life.
Autosomal dominant Charcot–Marie–Tooth disease type 2 with giant axons; Autosomal dominant GTP cyclohydrolase I deficiency; Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome; Autosomal dominant nocturnal frontal lobe epilepsy; Autosomal dominant partial epilepsy with auditory features
Congenital amegakaryocytic thrombocytopenia is inherited in an Autosomal Recessive manner. Specialty: Hematology Symptoms: Thrombocytopenia, petechiae, purpura, and gastrointestinal, pulmonary or intracranial hemorrhages. [1] Complications: Bone marrow failure, aplastic anemia, and pancytopenia. [1] Usual onset: Birth. [1] Duration: Lifelong ...
Oculopharyngeal muscular dystrophy (OPMD) is a rare form of muscular dystrophy with symptoms generally starting when an individual is 40 to 50 years old. It can be autosomal dominant neuromuscular disease or autosomal recessive. The most common inheritance of OPMD is autosomal dominant, which means only one copy of the mutated gene needs to be ...
NBS is caused by a mutation in the NBS1 gene, located at human chromosome 8q21. [9] [10] The disease is inherited in an autosomal recessive manner. [2]This means the defective gene responsible for the disorder is located on an autosome (chromosome 8 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder.
The following is a list of all the symptoms: [2] Moderate to severe intellectual disabilities; Speech delay; Macrocephaly; Childhood low muscle tone; Feeding problems; Variable cardiac anomalies; Facial dysmorphisms; Additional symptoms include polyhydramnios and epilepsy. [3]