Autosome

AD = autosomal dominant AR = autosomal recessive X-LR = sex-linked recessive. 

Some pedigrees reported to have hypoftbtinogenemia maybe examples of dysftbtinogenemia this condition is inherited as an autosomal dominant. Synthesis is vitamin K-dependent. 

Reported to be inherited both as autosomal recessive and as autosomal dominant. 

Congenital deficiency of prothrombin is inherited in an autosomal recessive fashion and is the rarest of all the hereditary coagulation disorders. Congenital dysprothrombinemia has also been recognized. 

Hereditary deficiency of Factor V is a rare autosomal recessive disorder. Combined deficiencies of Factors V and VIII have been identified in several families. 

Deficiency of Factor VII is relatively rare and inherited as an autosomal recessive disorder. Deficiency of Factor VII has been reported to be associated with bond abnormal bleeding and thrombotic tendencies. Deep vein thrombosis and pulmonary emboli have been reported in affected individuals. There is a very high frequency of Factor VII deficiency in people with the Dubin-Johnson syndrome, which is a congenital disorder of Hver function. 

Deficiency of the VIIFC portion of the Factor VIII complex results in classic hemophilia or hemophilia A and is inherited as a sex-linked recessive disorder. Based on the degree of deficiency of the VIIFC molecule three different forms of hemophilia A are recognized. Less than 1% VIIFC activity equals severe hemophilia A. Two to 10% of normal VIIFC activity equals moderately severe hemophilia A. Ten to 25% of normal VIIFC activity equals minimal symptomatic disease. Deficiency of the VIIFvWFAg portion of the Factor VIII complex results in von WiUebrand disease. There are at present five principal types of von WiUebrand disease and numerous subtypes or variants. For the most part, von WiUebrand disease is inherited as an autosomal dominant, and a few subtypes may be inherited as an autosomal recessive trait. 

Congenital deficiency of Factor XI is a relatively rare coagulopathy that has been reported as both an autosomal dominant and autosomal recessive trait. This deficiency state occurs predominantly in the Jewish population. Most patients with this deficiency state remain asymptomatic until trauma or surgery is encountered. Spontaneous hemorrhage is rare in this population. 

Congenital deficiency of Factor XII is inherited as an autosomal recessive trait. Deficiency of this factor is rarely associated with any coagulopathy. It has been observed that people deficient in this factor may have an increased frequency of thromboembolic compHcations. 

Congenital deficiency of Factor Xlll is inherited as an autosomal recessive trait and is frequendy recognized at birth because of delayed persistent hemorrhage from the umbiUcus. In Factor Xlll-deficient people wound healing is defective and wound dehiscence is common. 

Disorders with enhanced sensitivity of the CaR to CaQ+. In contrast to inactivating mutations of the CaR, activating antibodies produce a syndrome of autosomal... 

Central core disease (CCD) is an autosomal dominant, non-progressive myopathy characterized by hypotonia and proximal muscle weakness in infancy. CCD is named after detection of characteristic central cores that lack both mitochondria and oxidative enzyme... 

Episodic ataxia (EA) is an autosomal dominant disorder that brief episodes of ataxia can be triggered by physical or emotional stress. The symptom can occur several times during the day, last for seconds to minutes, and be associated with dysarthria and motor neuron activity, which causes muscle rippling (myokymia) between and during attacks. It is caused by a mutation in a neuronal voltage dependent Ca2+ channel. 

This type of disease occurs in families and begins unusually at early age (i.e., onset below the age of 60). Approximately 10% of Alzheimer s disease are familial and are inherited in an autosomal dominant manner with high penetrance. Deterministic genes directly cause the disease. Mutations in three different genes encoding for the amyloid precursor protein (APP) and the presenilins 1 and 2 (PS1 and PS2) have been identified to be responsible for early-onset familial Alzheimer s disease. 

Glucose/galactose malabsotption (GGM) is an intestinal monosaccharide (glucose and galactose) transport deficiency. The disorder manifests itself within the first weeks of life. The severe diarrhea and dehydration are usually fatal unless glucose and galactose are eliminated from the diet. Fiuctose and xylose are absorbed normally. Occurrence in both males and females, familial incidence, in particular in parental consanguinity, indicate autosomal recessive inheritance of... 

Liddle s syndrome is an autosomal dominant disorder that is caused by persistent hyperactivity of the epithelial Na channel. Its symptoms mimic aldosterone excess, but plasma aldosterone levels are actually reduced (pseudoaldosteronism). The disease is characterized by early onset arterial hypertension, hypokalemia, and metabolic alkalosis. 

Genetic disorders of HDL metabolism have also resulted in greater understanding of the molecular regulation of HDL metabolism. Nonsense or missense mutations in apoA-I can result in substantially reduced HDL-C levels due to rapid catabolism of structurally abnormal or truncated apoA-I proteins. Tangier disease is a rare autosomal codominant disorder characterized by markedly low HDL-C and apoA-I levels and caused... 

LDL receptor Loss-of-function (familial, autosomal dominant) Familial hypercholesterolemia (impaired clearance of LDL)... 

Malignant hyperthermia (MH) is an autosomal-dominant pharmacogenetic disorder that is triggered by exposure to inhalation of general anesthetics, such as halothane. In susceptible individuals, these drugs can induce tachycardia, a greatly increased body metabolism, muscle contracture and an elevated body temperature (above 40°C) with a rapid rate of increase. Many cases of MH are linked to a gene for type 1 ryanodine receptor (RyRl). 

MODY is a type of non-insulin-dependent diabetes mellitus caused by rare autosomal-dominant mutations. Presently there are six known forms of the disease which are all due to ineffective insulin production or... 

In nephrogenic diabetes insipidus the kidney s ability to respond to AVP is impaired by different causes, such as drugs (e.g. lithium), chronic disorders (e.g. sickle cell disease, kidney failure) or inherited genetic disorders (X-linked or autosomal NDI). This type of diabetes insipidus can not be treated by exogenous administration of AVP or AVP analogues. Instead, diuretics (hydrochlorothiazide combined or not with amiloride) and NSAI (indomethacin) are administrated to ameliorate polyuria. 

PC C56 C56.002 DJ-1 putative peptidase Mutations in the gene cause PARK7, an autosomal recessive form of early-on set parkinsonism... 

Parkin is a ubiquitin ligase encoded by a gene affected in autosomal recessive juvenile parkinsonism (AR-JP). This gene is located on chromosome 6 and encodes a protein of 465 amino acid residues with moderate similarity to ubiquitin at the amino terminus and a RING-finger motif at the carboxy terminus. 

PKD2, also called polycystin 2, is a TRP-related protein defective in human autosomal polycystic kidney disease, the most common life-threatening genetic disease. PKD2 appears to be a cation channel in the plasma membrane, although there is evidence that it is an intracellular Ca2+release channel. Mammalian homologs include polycystin-like (PCL). 

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