Syndrome type

COUAICOL1A2 Osteogenesis imperfecta, type T(MIM 1566200) Osteoporosis (MIM 166710) Ehlers-Danlos syndrome type VII autosomal dominant (130060)... 

Lysyl hydroxylase Ehlers-Danlos syndrome type VI (MIM 225400)... 

Hepatorenal syndrome—type 1 (rapid, progressive decline in renal function)... 

A complete description of a patient s epilepsy should include the seizure type with the epilepsy or syndrome type (i.e., idiopathic, symptomatic, or cryptogenic). 

Three Japanese patients with Crigler-Naj-jar syndrome type I carry an identical nonsense mutation in the gene for UDP-glucuronosyltransferase. Jpn J Hum Genet 1995 40 253-257. 

LamG (Jelly Usher syndrome type type S, coelicolor LamG domain PSI-BLAST (3) 2 X lO 4 Human Usher syndrome... 

Straus, S. E., and Leirardo, M. J., 1999, Inherited human Caspase 10 mutations underhe defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoprohferative syndrome type II. Cell 98 47-58. 

Mitf Microphthalmia associated transcription Mi allele in the Osteopetrosis with inactive osteoclasts. Waardenbmg syndrome, type 2a, Tietz microphthalmia albino... 

Eicker, E., Obejero-Paz, C.A., Zhao, S. and Brown, A.M. (2002) The binding site for channel blockers that rescue misprocessed human long QT syndrome type 2 ether-a-gogo-related gene (HERG) mutations. The Journal of Biological Chemistry, 277, 4989—4998. 

The Morquio syndrome (type IV mucopolysaccharidosis) is associated with the excretion of large amounts of keratan sulfate in the urine.389 The patients appear to have a normal pattern of enzymic activities in the liver lysosomes.399 Types V (Scheie syndrome) and... 

PBREM, phenobarbital-responsive enhaneer module Gilbert, Gilbert syndrome CN2, Crigler-Najjar syndrome type II. 

Aono S, Yamada Y, Keino Het al. Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II. Biochem Biophys Res Commun 1993 197 1239-1244. 

Neither selegiline nor rasagiline should be taken by patients receiving meperidine. They should be used with care in patients receiving tricyclic antidepressants or serotonin reuptake inhibitors because of the theoretical risk of acute toxic interactions of the serotonin syndrome type (see Chapter 16), but this is rarely encountered in practice. The adverse effects of levodopa may be increased by these drugs. 

Iourin O, Mattu TS, Mian N, Keir G, Winchester B, Dwek RA, Rudd PM (1996) The identification of abnormal glycoforms of serum transferrin in carbohydrate deficient glycoprotein syndrome type I by capillary zone electrophoresis. Glycoconj J 13 1031-1042... 

Jaeken J, Schachter H, Carchon, H, De Cock P, Coddeville B, Spik G (1994) Carbohydrate deficient glycoprotein syndrome type II a deficiency in Golgi localised N-acetyl-glucosami-nyltransferase II. Arch Dis Child 71 123-127... 

Niehues R, Hasilik M, Alton G, Korner C, Schiebe-Sukumar M, Koch HG, Zimmer KP, Wu R, Harms E, Reiter K, von Figura K, Freeze HH, Harms HK, Marquardt T (1998) Carbohydrate-deficient glycoprotein syndrome type lb. Phosphomannose isomerase deficiency and mannose therapy. J Clin Invest 101 1414-1420... 

Schaftingen E van, Jaeken J (1995) Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett 377 318-320... 

Emery-Dreifuss muscular dystrophy Diabetes insipidus, nephrogenic, X-linked Myotubular myopathy, X-linked Otopalatodigital syndrome, type I... 

Gulberg V, Bilzer M, Gerbes AL. Long-term therapy and retreatment of hepatorenal syndrome type 1 with ornipres-sin and dopamine. Hepatology 1999 30(4) 870-5. 

Di Palma, F., Holme, R.H., Bryda, E.C., Belyantseva, I.A., Pellegrino, R., Kachar, B., Steel, K.P., Noben-Trauth, K., 2001, Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type ID. Nat Genet 27, 103-107. 

Schachter, H. and Jaeken, J. (1999) Carbohydrate-deficient glycoprotein syndrome type II. Biochim. Biophys. Acta 1455(2-3), 179-192. 

Hayden MR, Tyagi SC. Vasa vasorum in plaque angiogenesis, metabolic syndrome, type 2 diabetes mellitus, and atheroscle-ropathy a malignant transformation. Cardiovasc Diabetol 2004 3 1. 

Ehlers-Danlos syndrome type V, is due to a deficiency in lysyl oxidase and results in hypermobile joints and hyperextensibility of the skin. The India-rubber man found in circuses probably had such a collagen deficiency. 

Some congenital diseases such as Marfan syndrome or Ehlers Danlos syndrome (type 4) can cause arteriopathies of cranial cervical vessels. In Ehlers Danlos syndrome, elongations, dissections, dilatation and aneurysms, as well as fistula in large and mid-size arteries, are found. Cystic medial necrosis (Ueda et al. 1999) leads to aortic dissections which can include supraaortic vessels (Fig. 5.27)... 

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