Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This is a case presentation of a neonate with McKusick-Kaufman Syndrome (hydrometrocolpos, polydactyly and congenital heart disease) accompanied by a complete tracheal ring in the distal trachea. This undiagnosed anomaly caused acute respiratory failure after another surgical procedure. Emergent bronchoscopy revealed the diagnosis and the ring was successfully dilated. This is the only known survivor of a complete tracheal ring associated with this syndrome.
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PMID:Acute respiratory failure secondary to a complete tracheal ring. 131 13

Sixty-five cases of the Kaufman-McKusick syndrome, an autosomal recessive disorder, have been thus far reported in the literature. In the female, hydrometrocolpos and postaxial polydactyly are the prominent features of the disorder, and together with congenital heart disease form the distinctive triad of symptoms characterizing this entity. Since the initial reports, multiple other anomalies have been reported in the affected patients. Hydrometrocolpos, especially if unrecognized, may be a life-threatening condition in the newborn girl. We present a child with the features of the syndrome, and a staphyloma of the left eye, which necessitated its enucleation.
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PMID:McKusick-Kaufman syndrome: report of the 66th case complicated by a staphyloma of the left eye. 174 28

The Kaufman-McKusick syndrome (MK 23670) is a rare autosomal recessive disorder characterized by the triad of hydrometrocolpos, postaxial polydactyly, and congenital heart disease. Multiple other anomalies have been ascribed to this syndrome. Hydrometrocolpos, especially if unrecognized, may be a serious, life-threatening condition in the newborn girl. Forty-four cases have been so far reported in the literature. A great phenotypic variability occurs in this syndrome, therefore making it very difficult to identify the disorder at its presentation and classify it correctly. We shall hereafter review current data regarding the prominent clinical features, the diagnosis and treatment of this syndrome. Problems in genetic counseling will be discussed.
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PMID:Rare syndromes. The Kaufman-McKusick syndrome. A review of the 44 cases reported in the literature. 331 66

The McKusick-Dungy-Kaufman syndrome is characterized by hydrometrocolpos, polydactyly and congenital heart disease. Two of these 3 main symptoms should be present for the diagnosis. Associated anomalies are mainly found in the urogenital tract, the gastro-intestinal tract and the skeletal system. On the basis of 2 patients and the literature the clinical features and the genetic aspects of this syndrome are reviewed. The clinical variability and the severity of the syndrome are stressed. Evidence for an autosomal recessive inheritance is given. Because of the clinical variability it seems preferable to use the term complex rather than syndrome.
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PMID:[Hydrometrocolpos, polydactylia and congenital heart defect (the McKusick-Dungy-Kaufman syndrome)]. 649 4

An infant was found to have the previously known manifestations of the Kaufman syndrome (hydrometrocolpos, postaxial polydactyly, and congenital heart disease) but also imperforate anus, malrotation of gut, congenital hip dislocation, and urogenital sinus. All of these anomalies have been separately reported in other cases of the syndrome. Three previously unreported problems present in this case were choanal atresia, pituitary dysplasia, and vertebral anomalies; these may well be component manifestations of the syndrome and not sporadic occurrences in our patient. Of particular clinical importance were the hypoglucocorticism and the hypoglucocorticism secondary to the pituitary dysplasia.
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PMID:Kaufman syndrome (hydrometrocolpos, polydactyly, and congenital heart disease) with pituitary dysplasia, choanal atresia, and vertebral anomalies. 724 10

McKusick-Kaufman syndrome is a human developmental anomaly syndrome comprising mesoaxial or postaxial polydactyly, congenital heart disease and hydrometrocolpos. This syndrome is diagnosed most frequently in the Old Order Amish population and is inherited in an autosomal recessive pattern with reduced penetrance and variable expressivity. Homozygosity mapping and linkage analyses were conducted using two pedigrees derived from a larger pedigree published in 1978. The PedHunter software query system was used on the Amish Genealogy Database to correct the previous pedigree, derive a minimal pedigree connecting those affected sibships that are in the database and determine the most recent common ancestors of the affected persons. Whole genome short tandem repeat polymorphism (STRP) screening showed homozygosity in 20p12, between D20S162 and D20S894 , an area that includes the Alagille syndrome critical region. The peak two-point LOD score was 3.33, and the peak three-point LOD score was 5.21. The physical map of this region has been defined, and additional polymorphic markers have been isolated. The region includes several genes and expressed sequence tags (ESTs), including the jagged1 gene that recently has been shown to be haploinsufficient in the Alagille syndrome. Sequencing of jagged1 in two unrelated individuals affected with McKusick-Kaufman syndrome has not revealed any disease-causing mutations.
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PMID:Genetic and physical mapping of the McKusick-Kaufman syndrome. 946 7

Hydrocolpos is characterized by a vaginal obstruction with cystic dilatation of the vagina. The latter is usually caused by accumulation of cervical and endometrial mucus but in rare instances urine is accumulated through a vesicovaginal fistula proximal to the obstruction. Hydrocolpos and hydrometrocolpos may be associated with other malformations, such as postaxial polydactyly, anal atresia, esophageal atresia, renal agenesis, genital anomalies, and cardiopathy. Each neonate presenting with hydrocolpos should be evaluated for other clinically silent malformations, such as hamartoblastoma of the hypothalamic region. We report a patient with urinary hydrocolpos and cloacal malformation; it is the first case of hydrocolpos with pre-axial polydactyly. We briefly describe embryogenesis of the different types of vaginal obstruction and discuss prenatal and neonatal diagnosis and differential diagnosis.
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PMID:Urinary hydrocolpos, cloacal malformation and pre-axial polydactyly: a rare variant of neonatal hydrocolpos. 956 27

McKusick-Kaufman syndrome (MKKS, MIM 236700) is a human developmental anomaly syndrome comprising hydrometrocolpos (HMC), postaxial polydactyly (PAP) and congenital heart disease (CHD). MKKS has been mapped in the Old Order Amish population to 20p12, between D20S162 and D20S894 (ref. 3). Here we describe the identification of a gene mutated in MKKS. We analysed the approximately 450-kb candidate region by sample sequencing, which revealed the presence of several known genes and EST clusters. We evaluated candidate transcripts by northern-blot analysis of adult and fetal tissues. We selected one transcript with widespread expression, MKKS, for analysis in a patient from the Amish pedigree and a sporadic, non-Amish case. The Old Order Amish patient was found to be homozygous for an allele that had two missense substitutions and the non-Amish patient was a compound heterozygote for a frameshift mutation predicting premature protein truncation and a distinct missense mutation. The MKKS predicted protein shows amino acid similarity to the chaperonin family of proteins, suggesting a role for protein processing in limb, cardiac and reproductive system development. We believe that this is the first description of a human disorder caused by mutations affecting a putative chaperonin molecule.
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PMID:Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. 1080 61

Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder with locus heterogeneity. None of the 'responsible' genes have previously been identified. Some BBS cases (approximately 10%) remain unassigned to the five previously mapped loci. McKusick-Kaufma syndrome (MKS) includes hydrometrocolpos, postaxial polydactyly and congenital heart disease, and is also inherited in an autosomal recessive manner. We ascertained 34 unrelated probands with classic features of BBS including retinitis pigmentosa (RP), obesity and polydactyly. The probands were from families unsuitable for linkage because of family size. We found MKKS mutations in four typical BBS probands (Table 1). The first is a 13-year-old Hispanic girl with severe RP, PAP, mental retardation and obesity (BMI >40). She was a compound heterozygote for a missense (1042GA, G52D) and a nonsense (1679TA, Y264stop) mutation in exon 3. Cloning and sequencing of the separate alleles confirmed that the mutations were present in trans. A second BBS proband (from Newfoundland), born to consanguineous parents, was homozygous for two deletions (1316delC and 1324-1326delGTA) in exon 3, predicting a frameshift. An affected brother was also homozygous for the deletions, whereas an unaffected sibling had two normal copies of MKKS. Both the proband and her affected brother had RP, PAP, mild mental retardation, morbid obesity (BMI >50 and 37, respectively), lobulated kidneys with prominent calyces and diabetes mellitus (diagnosed at ages 33 and 30, respectively). A deceased sister (DNA unavailable) had similar phenotypic features (RP with blindness by age 13, BMI >45, abnormal glucose tolerance test and IQ=64, vaginal atresia and syndactyly of both feet). Both parents and the maternal grandfather were heterozygous for the deletions. Genotyping with markers from the MKKS region confirmed homozygosity at 20p12 in both affected individuals.
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PMID:Mutations in MKKS cause Bardet-Biedl syndrome. 1097 38

Bardet-Biedl syndrome (BBS, MIM 209900) is a heterogeneous autosomal recessive disorder characterized by obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation, and hypogenitalism. The disorder is also associated with diabetes mellitus, hypertension, and congenital heart disease. Six distinct BBS loci map to 11q13 (BBS1), 16q21 (BBS2), 3p13-p12 (BBS3), 15q22.3-q23 (BBS4), 2q31 (BBS5), and 20p12 (BBS6). Although BBS is rare in the general population (<1/100,000), there is considerable interest in identifying the genes causing BBS because components of the phenotype, such as obesity and diabetes, are common. We and others have demonstrated that BBS6 is caused by mutations in the gene MKKS (refs. 12,13), mutation of which also causes McKusick-Kaufman syndrome (hydrometrocolpos, post-axial polydactyly, and congenital heart defects). MKKS has sequence homology to the alpha subunit of a prokaryotic chaperonin in the thermosome Thermoplasma acidophilum. We recently identified a novel gene that causes BBS2. The BBS2 protein has no significant similarity to other chaperonins or known proteins. Here we report the positional cloning and identification of mutations in BBS patients in a novel gene designated BBS4.
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PMID:Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. 1138 Dec 70


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