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)

Six children in an inbred isolate (a gypsy colony) were found to have a syndrome of reduplication of the big toes, supernumerary fingers on the hands, cleft lip/palate or lingual nodule, and somatic and psychomotor retardation. Other features sometimes present were absence of olfactory bulbs and tracts, cryptorchidism, inguinal hernia, and congenital heart disease. The disorder has overlapping features with several previously delineated syndromes, but is most similar to the anomalies of trisomy 13 Mand ohr's syndrome. Our patients had a normal karyotype. The mode of inheritance of this lethal genetic syndrome is probably autosomal recessive.
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PMID:Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies. 738 65

Oral-facial digital syndrome type II (OFP syndrome II; orofaciodigital syndrome II) is a rare autosomal recessive syndrome, first described by Mohr (1941). We present two sisters with Mohr syndrome from a consanguineous family. One is a three-day-old female patient, the other is 22-week-old fetus. Polydactyly with bifid thumbs in both hands, bilateral polysyndactyly of halluces, lateral polysyndactyly and bilateral pes equinovarus were demonstrated in the fetus sonographically. Corpus callosum agenesis, congenital heart disease, bilateral bifid thumbs and halluces and polydactyly were seen in both patients. In addition, post-mortem findings showed absence of olfactory nerve, single atrium. VSD, abnormal lung lobulation and natal teeth in the fetus. Absence of olfactory nerve and natal teeth have not been reported previously in Mohr syndrome.
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PMID:Mohr syndrome in two sisters: prenatal diagnosis in a 22-week-old fetus with post-mortem findings in both. 1052 39

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life. At least 20 BBS genes have already been identified, and all of them are involved in primary cilia functioning. Genetic diagnosis of BBS is complicated due to lack of gene-specific disease symptoms; however, it is gradually becoming more accessible with the invention of multigene sequencing technologies. Clinical management of BBS is largely limited to a symptomatic treatment. Mouse experiments demonstrate that the most debilitating complication of BBS, blindness, can be rescued by topical gene therapy. There is a published case report describing the delay of BBS symptoms by nutritional compensation of the disease-related biochemical deficiencies. Progress in DNA testing technologies is likely to rapidly resolve all limitations in BBS diagnosis; however, much slower improvement is expected with regard to BBS treatment.
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PMID:Bardet-Biedl Syndrome. 2738 62

CHARGE syndrome (CS) is a genetic disorder whose first description included Coloboma, Heart disease, Atresia of choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies and deafness, most often caused by a genetic mutation in the CHD7 gene. Two features were then added: semicircular canal anomalies and arhinencephaly/olfactory bulb agenesis, with classification of typical, partial, or atypical forms on the basis of major and minor clinical criteria. The detection rate of a pathogenic variant in the CHD7 gene varies from 67% to 90%. To try to have an overview of this heterogenous clinical condition and specify a genotype-phenotype relation, we conducted a national study of phenotype and genotype in 119 patients with CS. Selected clinical diagnostic criteria were from Verloes (2005), updated by Blake & Prasad (). Besides obtaining a detailed clinical description, when possible, patients underwent a full ophthalmologic examination, audiometry, temporal bone CT scan, gonadotropin analysis, and olfactory-bulb MRI. All patients underwent CHD7 sequencing and MLPA analysis. We found a pathogenic CHD7 variant in 83% of typical CS cases and 58% of atypical cases. Pathogenic variants in the CHD7 gene were classified by the expected impact on the protein. In all, 90% of patients had a typical form of CS and 10% an atypical form. The most frequent features were deafness/semicircular canal hypoplasia (94%), pituitary defect/hypogonadism (89%), external ear anomalies (87%), square-shaped face (81%), and arhinencephaly/anosmia (80%). Coloboma (73%), heart defects (65%), and choanal atresia (43%) were less frequent.
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PMID:Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. 2917 47

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. It is a congenital ciliopathy that has primary and secondary characteristics. Primary clinical features include rod-cone dystrophy, polydactyly, central obesity, genital abnormalities and mental retardation often presenting as learning difficulties. Secondary clinical features include developmental delay, speech deficit, brachydactyly/syndactyly, dental defects, ataxia, olfactory deficit, diabetes mellitus (DM) and congenital heart disease. BBS patients are friendly with a happy predisposition. Proper management, and regular examinations should be done in order to maintain healthy organ function and to avoid an early death. Renal failure is the most common cause of mortality in BBS patients.This case report illustrates the evaluation of a child with BBS, as well as the unique association of otolaryngologic symptoms and bronchopneumonia with it.
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PMID:A Unique Manifestation of Bardet-Biedl Syndrome with Otolaryngologic Symptoms and Bronchopneumonia in a One-year-old Girl. 3172 Jan 85

Laurence-Moon-Bardet-Biedl syndrome (LMBBS), a rare autosomal recessive genetic disorder, results from consanguineous marriage. It is a congenital ciliopathy manifesting with primary and secondary characteristics. Primary clinical features include rod and cone dystrophy, polydactyly, central obesity, genital abnormalities, and mental retardation, often presenting as poor schooling skills. Secondary clinical features include developmental delay, speech deficit, brachydactyly/syndactyly, dental defects, ataxia, olfactory deficit, diabetes mellitus (DM), and congenital heart disease. Herein, we report a case of a 15-year-old male with clinical manifestations of LMBBS, namely learning disabilities, night blindness, hypogonadism, polydactyly, polysyndactyly, and obesity. Physicians must be familiar with this syndrome, for which an early diagnosis, multidisciplinary approach, and regular follow-ups can profoundly diminish morbidity and mortality in LMBBS patients.
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PMID:Laurence-Moon-Bardet-Biedl Syndrome: A Rare Case With a Literature Review. 3330 90