Signs and symptoms
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| Ataxia-pancytopenia syndrome | |
|---|---|
| Specialty | Neurology |
| Causes | genetic |
Ataxia-pancytopenia syndrome is a rare autosomal dominant disorder characterized by cerebellar ataxia, peripheral neuropathies, pancytopenia and a predilection to myelodysplastic syndrome and acute myeloid leukemia.
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This syndrome is caused by mutations in the sterile alpha motif domain containing 9-like (SAMD9L) gene. [1] This gene is located on the long arm of chromosome 7.
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Ataxia-pancytopenia syndrome, also known as myelocerebellar dysfunction, was first described by Frederick Pei Li in 1978. The father and all five of his children developed ataxia and hematologic cytopenias of varying severity during their first to third decades of life. [2]
Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination.
Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage. They often lead to an increased tendency to develop certain types of malignancies.
Seckel syndrome, or microcephalic primordial dwarfism is an extremely rare congenital nanosomic disorder. Inheritance is autosomal recessive. It is characterized by intrauterine growth restriction and postnatal dwarfism with a small head, narrow bird-like face with a beak-like nose, large eyes with down-slanting palpebral fissures, receding mandible and intellectual disability.
Episodic ataxia (EA) is an autosomal dominant disorder characterized by sporadic bouts of ataxia with or without myokymia. There are seven types recognized but the majority are due to two recognized entities. Ataxia can be provoked by psychological stress or startle, or heavy exertion, including exercise. Symptoms can first appear in infancy. There are at least six loci for EA, of which 4 are known genes. Some patients with EA also have migraine or progressive cerebellar degenerative disorders, symptomatic of either familial hemiplegic migraine or spinocerebellar ataxia. Some patients respond to acetazolamide though others do not.
Surfeit locus protein 1 (SURF1) is a protein that in humans is encoded by the SURF1 gene. The protein encoded by SURF1 is a component of the mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex, which is involved in the regulation of cytochrome c oxidase assembly. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency, and Charcot-Marie-Tooth disease 4K (CMT4K).
ATP-binding cassette sub-family B member 7, mitochondrial is a protein that in humans is encoded by the ABCB7 gene.
Wnt-10a is a protein that in humans is encoded by the WNT10A gene.
Gap junction gamma-2 (GJC2), also known as connexin-46.6 (Cx46.6) and connexin-47 (Cx47) and gap junction alpha-12 (GJA12), is a protein that in humans is encoded by the GJC2 gene.
Jalili syndrome is a genetic disorder characterized by the combination of cone-rod dystrophy of the retina and amelogenesis imperfecta. It was characterized in 1988 by Dr. I. K. Jalili and Dr. N. J. D. Smith, following the examination of 29 members of an inbred Arab family living within the Gaza Strip.
Genitopatellar syndrome is a rare disorder consisting of congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies. Additional symptoms include microcephaly, severe psychomotor disability. In 2012, it was shown that mutations in the gene KAT6B cause the syndrome. Genitopatellar syndrome (GTPTS) can be caused by heterozygous mutation in the KAT6B gene on chromosome 10q22. The Say-Barber-Biesecker variant of Ohdo syndrome, which has many overlapping features with GTPTS, can also be caused by heterozygous mutation in the KAT6B gene.
Kohlschütter-Tönz syndrome (KTS), also called amelo-cerebro-hypohidrotic syndrome, is a rare inherited syndrome characterized by epilepsy, psychomotor delay or regression, intellectual disability, and yellow teeth caused by amelogenesis imperfecta. It is a type A ectodermal dysplasia.
Dehydrogenase E1 and transketolase domain containing 1 is a protein that in humans is encoded by the DHTKD1 gene. This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q.
alpha/beta-Hydrolase domain containing 12 (ABHD12) is a serine hydrolase encoded by the ABHD12 gene that participates in the breakdown of the endocannabinoid neurotransmitter 2-arachidonylglycerol (2-AG) in the central nervous system. It is responsible for about 9% of brain 2-AG hydrolysis. Together, ABHD12 along with two other enzymes, monoacylglycerol lipase (MAGL) and ABHD6, control 99% of 2-AG hydrolysis in the brain. ABHD12 also serves as a lysophospholipase and metabolizes lysophosphatidylserine (LPS).
Arts syndrome is a rare metabolic disorder that causes serious neurological problems in males due to a malfunction of the PRPP synthetase 1 enzyme. Arts Syndrome is part of a spectrum of PRPS-1 related disorders with reduced activity of the enzyme that includes Charcot–Marie–Tooth disease and X-linked non-syndromic sensorineural deafness.
Jean-Louis Mandel, born in Strasbourg on February 12, 1946, is a French medical doctor and geneticist, and heads a research team at the Institute of Genetics and Molecular and Cellular Biology (IGBMC). He has been in charge of the genetic diagnosis laboratory at the University Hospitals of Strasbourg since 1992, as well as a professor at the Collège de France since 2003.
First being described and identified in 1985, Wieacker-Wolff syndrome is a rare, slowly progressive, genetic disorder present at birth and characterized by deformities of the joints of the feet, muscle degeneration, mild intellectual disability and an impaired ability to move certain muscles of the eyes, face and tongue. Wieacker syndrome is inherited as an X-linked recessive trait.
Birk-Barel syndrome is a rare genetic disorder associated with the KCNK9 gene. Signs and symptoms include mental retardation, hypotonia, hyperactivity, and syndromic facies.
Cole–Carpenter syndrome is an extremely rare autosomal recessive medical condition in humans. The condition affects less than 10 people worldwide. It is characterised by dysmorphic features and a tendency to fractures.
Posterior column ataxia-retinitis pigmentosa syndrome (PCARP) is an autosomal recessive genetic disorder of the human eye, attributed to mutation of a gene] originally dubbed AXPC1 which was identified as a mutation in the FLCVR1 gene. Generally rare, a Pennsylvania Mennonite variant has been estimated to have a population allele prevalence close to 1% due to founder effects.
A heme transporter is a protein that delivers heme to the various parts of a biological cell that require it.
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