Clinical Variation: Causes & Reasons

Possible Causes for Clinical Variation

Clinical exome sequencing revealed homozygous missense variation in exon 1 of the BSND gene (chr1:g.54999214G > A; Depth:362x), confirming type 4A BS with sensorineural deafness [link.springer.com]

[…] significance and condition Chr 01 pos Variation AA Info Type 837720 Likely Pathogenic: not provided 55,005,117(+) G/T NM_057176.3(BSND):c.272+1G>T SPLICE_DONOR 858780 Pathogenic [genecards.org]

DataMed Search for BSND at HumanCyc No data available for CIViC Summary, Tocris Summary, PharmGKB "VIP" Summary, Rfam classification and piRNA Summary for BSND Gene SNP ID Clinical [genecards.org]

Post-COVID-19

The objectives of the Platform are to: Describe the clinical characteristics of COVID-19 Assess the variations in clinical characteristics of COVID-19 Identify the association [who.int]

In response, the WHO has created a global clinical platform of patient-level anonymized clinical data. [who.int]

Chandler Syndrome

Iridocorneal endothelial syndrome in Thai patients: clinical variations. Arch Ophthalmol. 2000;118:187-92. Ozdemir Y, Onder F, Cosar CB, et al. [rarediseases.org]

ABSTRACT Iridocorneal endothelial syndrome comprises different clinical variations of the same disease. [medigraphic.com]

A comparison of the clinical variations of the iridocorneal endothelial syndrome. Arch Ophthalmol. 1989;107(10):1465-8. Eagle RC, Font RL, Yanoff M, Fine B. [msjonline.org]

Iridocorneal Endothelial Syndrome

Abstract Iridocorneal endothelial syndrome is generally considered to have three major variations: Chandler's syndrome, progressive (essential) iris atrophy, and the Cogan-Reese [ncbi.nlm.nih.gov]

A comparison of the clinical variations of the iridocorneal endothelial syndrome. Arch Ophthalmol. 1989;107(10):1465-8. Eagle RC, Font RL, Yanoff M, Fine B. [msjonline.org]

To better understand the clinical significance of this classification, we studied the medical records of 37 consecutive patients from our practice, comparing the presentation [ncbi.nlm.nih.gov]

Chandler Syndrome

ICE syndrome has been described in different ethnic groups, although the prevalence of the 3 clinical variations may vary among ethnicities. [entokey.com]

A comparison of the clinical variations of the iridocorneal endothelial syndrome. Arch Ophtalmol 1989;107:1465-8. 6 Campbell DG, Shields MB, Smith TR. [sanarmed.com]

Iridocorneal endothelial syndrome in Thai patients: clinical variations. Arch Ophthalmol. 2000;118(2):187-92. [medigraphic.com]

Medication Errors

In general, these measures aim to reduce variation in clinical practice by guiding clinicians to what is considered best practice as determined by expert panels, professional [merckmanuals.com]

Hereditary Dystonia

Ethnic variation in the clinical expression of idiopathic torsion dystonia. Mov Disord 1997; 12: 715-721 18. Soland V L, Bhatia K P, Mardsden CD. [svneurologia.org]

Genitofemoral Nerve Disorder

Anatomical Variations of the Lumbar Plexus: A Descriptive Anatomy Study with Proposed Clinical Implications.J Man Manip Ther. 2009;17(4):107–14. [hernia.grupoaran.com]

Morphology of lumbar plexus and its clinical significance. Int J Anat Res. 2016;4(1):2007-2014. DOI: 10.16965/ijar.2016.131 Anloague PA, Huijbregts P. [hernia.grupoaran.com]

Vasoproliferative Tumor of the Retina

Shields J A, Shields C L, Honavar S G.et al Clinical variations and complications of Coats' disease in 150 cases: the 2000 Sanford Gifford Memorial Lecture. [ncbi.nlm.nih.gov]

Coats Disease

Clinical variations and complications of Coats disease in 150 cases: the 2000 Sanford Gifford Memorial Lecture. [benthamopen.com]

Shields JA, Shields CL, Honavar SG, Demirci H: Clinical variations and complications of Coats disease in 150 cases: the 2000 Sanford Gifford Memorial Lecture. [diagnosticpathology.biomedcentral.com]

Although there are several articles discussing the clinical variations and treatment modalities for Coats' disease, histopathological reports are not seen that often since [diagnosticpathology.biomedcentral.com]

Intellectual Developmental Disorder with Short Stature - Facial Anomalies - Speech Defects

Clinical significance of germline copy number variation in susceptibility of human diseases. [scielo.org.pe]

Intellectual Developmental Disorder with Abnormal Behavior - Microcephaly - Short Stature

Clinical significance of germline copy number variation in susceptibility of human diseases. [scielo.org.pe]

Lymphangiectasis

J Endocrinol 16:1374–1387 Google Scholar Ahonen P, Myllarniemi S, Sipila I, Perheentupa J (1990) Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal [link.springer.com]

Unilateral Retinoblastoma

Clinical variations of trilateral retinoblastoma: a report of 13 cases. J Pediatr Ophthalmol Strabismus. 1994; 31(1):26-31. [scielo.br]

Clinical variations of trilateral retinoblastoma: a report of 13 cases. J Pediatr Ophthalmol Strabismus. 1994; 31(1):26-31. References 1 Kivela T. [scielo.br]

Autosomal Dominant Multiple Epiphyseal Dysplasia

Sano-T; Ikegawa-SAutosomal dominant precocious osteoarthropathy due to a mutation of the cartilage oligomeric matrix protein (COMP) gene: further expansion of the phenotypic variations [malattierare.regione.veneto.it]

DEC 2002; 31 (12) : 730-737Chapman-KL; Briggs-MD; Mortier-GRReview: Clinical variability and genetic heterogeneity in multiple epiphyseal dysplasiaPEDIATRIC-PATHOLOGY-AND-MOLECULAR-MEDICINE [malattierare.regione.veneto.it]

Waaler-Aarskog Syndrome

Shalev SA, Chervinski E, Weiner E, Mazor G, Friez MJ, Schwartz CE: Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene. [rarediseases.org]

Segmental Dystonia

Ethnic variation in the clinical expression of idiopathic torsion dystonia. Mov Disord 1997; 12: 715-721 18. Soland V L, Bhatia K P, Mardsden CD. [svneurologia.org]

Variation in Apocrine Gland Secretion

[…] in: 31 # Description HPO Frequency HPO Source Accession 1 breast carcinoma 31 HP:0003002 2 abnormality of the ear 31 HP:0000598 Symptoms via clinical synopsis from OMIM®: [malacards.org]

[…] from OMIM®: 117800 (Updated 05-Apr-2021) Genetic tests related to Apocrine Gland Secretion, Variation in: # Genetic test Affiliating Genes 1 Apocrine Gland Secretion, Variation [malacards.org]

57 (Updated 05-Apr-2021) Ears: ear wax types (wet and dry) Misc: axillary odor association Oncology: positive correlation between wet ear wax and breast cancer Clinical features [malacards.org]

Acute Maxillary Sinusitis

These two studies represent almost the utmost ends of the clinical variation; Haye 1998 excluded participants with radiographic findings more than mild and Hadley 2010 included [cochranelibrary.com]

Deletion of 18q23

Analysis of clinical variation seen in patients with 18q terminal deletions. Am J Med Genet. 59: 476-483 (1995). [coriell.org]

Analysis of clinical variation seen in patients with 18q terminal deletions. Strathdee G, Zackai EH, Shapiro R, Kamholz J, Overhauser J. Strathdee G, et al. [pubmed.ncbi.nlm.nih.gov]

Analysis of clinical variation seen in patients with 18q terminal deletions. Am J Med Genet. 1995 Dec 4;59(4):476–483. [ncbi.nlm.nih.gov]

Chronic Q Fever

There is much variation in the clinical presentation, including severe forms with a poor prognosis. [elsevier.es]

Mitral Atresia

In several hearts the intervening fibrous tissue varied from a thick fibrous membrane to a tiny fibrous cord; it is impossible to detect these variations clinically. [heart.bmj.com]

Autosomal Recessive Spastic Ataxia 8 with Hypomyelinating Leukodystrophy

[…] significance and condition Chr 10 pos Variation AA Info Type 1031743 Pathogenic: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 132,785,542(-) [genecards.org]

[…] at HumanCyc No data available for Entrez Gene Summary, CIViC Summary, Tocris Summary, PharmGKB "VIP" Summary, Rfam classification and piRNA Summary for NKX6-2 Gene SNP ID Clinical [genecards.org]

Revesz Syndrome

Few patients with this syndrome have been reported, and significant clinical variations exist among patients. [doaj.org]

This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features. [ingentaconnect.com]

This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features. Biblioteca responsable: BR1.2 [pesquisa.bvsalud.org]

Peripheral Vasoproliferative Retinopathy

Shields J A, Shields C L, Honavar S G. et al Clinical variations and complications of Coats' disease in 150 cases: the 2000 Sanford Gifford Memorial Lecture. [ncbi.nlm.nih.gov]

Clinical variations and complications of Coats disease in 150 cases: the 2000 Sanford Gifford Memorial Lecture. Am J Ophthalmol. 2001;131(5):561-71. [alliedacademies.org]

Clinical variations and complications of Coats disease in 150 cases: the 2000 Sanford Gifford Memorial Lecture. Am J Ophthalmol. 2001;131:561-571. 32. [retinalphysician.com]

Aarskog-Scott Syndrome

Shalev SA, Chervinski E, Weiner E, Mazor G, Friez MJ, Schwartz CE: Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene. [rarediseases.org]

variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene. ( 16353258 ) Shalev S.A....Schwartz C.E. 2006 33 Neurobehavioral disorders in patients with [malacards.org]

[…] severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene. ( 17152066 ) Orrico A....Sorrentino V. 2007 32 Clinical [malacards.org]

Iridocorneal Endothelial Syndrome

The different clinical variations as well as the imaging techniques available to aid diagnosis are discussed. [ncbi.nlm.nih.gov]

A comparison of the clinical variations of the iridocorneal endothelial syndrome. Arch Ophthalmol. 1989;107(10):1465–1468. 21. Scheie HG, Yanoff M. [dovepress.com]

A comparison of the clinical variations of the iridocorneal endothelial syndrome. Arch Ophthalmol. 1989;107(10):1465–1468. [PubMed] [Google Scholar] 21. [ncbi.nlm.nih.gov]

Dowling Degos Disease Type 4

Awareness of different clinical variations is essential as such cases may lack other classical findings of DDD (pitted perioral scars and comedone-like lesions), thereby making [ijdvl.com]

At the present, several variations of clinical, histopathology, and genetic mutations have been described such as classic DDD, generalized DDD, follicular DDD, and Galli-Galli [karger.com]

clinical diagnosis challenging. [ijdvl.com]

Cyclotropia

Clinical Trial. Measuring ocular torsion and its variations using different nonmydriatic fundus photographic methods. Kang H, Lee SJ, Shin HJ, Lee AG. Kang H, et al. [pubmed.ncbi.nlm.nih.gov]

Multifocal Dystonia

Ethnic variation in the clinical expression of idiopathic torsion dystonia. Mov Disord 1997; 12: 715-721 18. Soland V L, Bhatia K P, Mardsden CD. [svneurologia.org]