Variable Clinical Presentation: Causes & Reasons

Possible Causes for Variable Clinical Presentation

Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations. Mol Genet Metab. 2002 Dec;77(4):282-90. [ghr.nlm.nih.gov]

Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations. [medlineplus.gov]

Ainhum

The findings suggest that this condition is underdiagnosed and overlooked because its low prevalence and variable clinical presentations that might mimic more common etiologies [ncbi.nlm.nih.gov]

Surgical amputation may be recommended to alleviate the symptoms.(10) DS is a rare disease whose diagnosis is hampered by its low prevalence and variable clinical presentation [scienceopen.com]

Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations

Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1. Clin J Am Soc Nephrol. 2014;9:527-35. [ Links ] 14. [scielo.isciii.es]

Tyrosinemia Type 1

It has a variable clinical presentation, from an acute severe neonatal form until a virtually asymptomatic form with late presentation. [elsevier.es]

Pulmonary Veno-Occlusive Disease Type 1

Benign Neoplasm of the Testis

Results Age of presentation was variable: 22 to 67 years (mean 35). [elsevier.es]

Clinically the presentation was orchyepididymitis (2), hydrocele (2), infertility (1), bilateral gynecomastia (1), and adrenogenital syndrome. [elsevier.es]

Material and methods We present a histopathologic, immunohistochemical and clinical study of 7 cases of Leydig cell tumor of the testis diagnosed in a period of 9 years (1998 [elsevier.es]

Tyrosinosis

It has a variable clinical presentation, from an acute severe neonatal form until a virtually asymptomatic form with late presentation. [elsevier.es]

Mosaic Trisomy 17

Spinner1,** Abstract Mosaic trisomy 17 is rare with only 28 cases reported and the clinical presentation is highly variable. [ncbi.nlm.nih.gov]

Mosaic trisomy 17: variable clinical and cytogenic presentation. Am. J. Med. Genet. A 155A:2489–2495. [PMC free article] [PubMed] [Google Scholar] 4. [ncbi.nlm.nih.gov]

Considering that different mosaic proportions of trisomy 17 were found in various tissues, the clinical variability may be due to tissue-specific mosaicism. [ncbi.nlm.nih.gov]

Skin Angiosarcoma

clinical presentation. [jcp.bmj.com]

Abstract Cutaneous angiosarcoma (cAS) is a rare malignant neoplasm with variable clinical presentation. [pubmed.ncbi.nlm.nih.gov]

Texas MD Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX 77030, USA; aungpatho{at}gmail.com Abstract Cutaneous angiosarcoma (cAS) is a rare malignant neoplasm with variable [jcp.bmj.com]

Heart Leiomyosarcoma

Onset is usually in the fourth decade, with a late, variable clinical presentation, as the symptoms tend to result from obliteration of the cardiac chambers and obstruction [revespcardiol.org]

Linear Hamartoma Syndrome

clinical presentations. [ijdvl.com]

Despite variable clinical manifestations, all types of BFH present with the same histopathological features, mainly including multifocal islands and branching cords of basaloid [scielo.br]

[…] and retraction clefts, compatible with basal cell carcinoma (hematoxylin and eosin, �100) Discussion Basaloid follicular hamartoma is a rare follicular malformation with variable [ijdvl.com]

Charcot-Marie-Tooth Disease Type 1F

A form of Charcot-Marie-Tooth disease type 1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing [ncbi.nlm.nih.gov]

clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. [mendelian.co]

Mendelian Rare Diseases CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F; CMT1F Description Charcot-Marie-Tooth disease type 1F (CMT1F) is a form of CMT1, with a variable [mendelian.co]

Lymphohistiocytoid Mesothelioma

XLP1 has variable clinical presentations, including fatal HLH secondary to EBV [19] as seen in our patient; however, our patient tested negative for SAP mutation, and hence [cureus.com]

Medullary Cystic Kidney Disease Type 1

Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1. Clin J Am Soc Nephrol. 2014;9:527-35. [ Links ] 14. [scielo.isciii.es]

Tufted Angioma

Tufted angioma is an uncommon benign vascular tumor that typically is noted during infancy or childhood, with variable clinical presentation. [ncbi.nlm.nih.gov]

Tufted angioma, first recognized in Japanese literature as "Angioblastoma of Nagakawa", is a rare benign vascular tumour with a variable clinical presentation. [ncbi.nlm.nih.gov]

Abstract Tufted angioma (TA), an uncommon benign vascular tumor, has a variable clinical presentation, and histopathologic findings are a key component of diagnosis. [ncbi.nlm.nih.gov]

Talaromycosis

The main challenges include the variability of clinical presentation, the fastidious and slow-growing nature of the fungal pathogens, the paucity of diagnostic tests, and [go.gale.com]

Rudiger's Syndrome

CASE REPORT Year : 2007 | Volume : 73 | Issue : 1 | Page : 46-48 EEC syndrome sans clefting: Variable clinical presentations in a family Department of Dermatology, Medical [ijdvl.com]

EEC syndrome sans clefting: Variable clinical presentations in a family. Indian J Dermatol Venereol Leprol [serial online] 2007 [cited 2019 Jan 31];73:46-8. [ijdvl.com]

It is a complex pleiotropic multiple congenital anomaly/dysplasia syndrome in which any one of the stigmata or cardinal signs are present in variable expression. [journals.lww.com]

Mosaic Trisomy 8

variability. [ncbi.nlm.nih.gov]

Its main clinical characteristic is intellectual disability, dysmorphic facies, and deep plantar folds. [dialnet.unirioja.es]

INTRODUCTION: Mosaic trisomy 8 or "Warkany's Syndrome" is a chromosomopathy with an estimated prevalance of 1:25,000 to 1:50,000, whose clinical presentation has a wide phenotypic [ncbi.nlm.nih.gov]

Hypergonadotropic Hypogonadism - Partial Alopecia

Affected individuals may also present with variable clinical symptoms such as, ataxia, deafness, diabetes, ocular and skin abnormalities. [cags.org.ae]

Patients can present other variable clinical manifestations including mental retardation, skeletal anomalies, scleroderma-like skin, graying and thinning of hair, osteoporosis [ab-y-ss.com]

Mitochondrial Complex 3 Deficiency Nuclear Type 2

Common variable immunodeficiency disorders in children: delayed diagnosis despite typical clinical presentation. J Pediatr. 2009;154(6):888–894. [ncbi.nlm.nih.gov]

Common variable immunodeficiency disorders: division into distinct clinical phenotypes. Blood. 2008;112(2):277–286. [PubMed] [Google Scholar] 44. [ncbi.nlm.nih.gov]

Familial Hemophagocytic Reticulosis

In many patients diagnosis is difficult due to the lack of diagnostic criteria, hemophagocytosis, variability of clinical presentation, spontaneous improvement and the absence [analesdepediatria.org]

Focal Epithelial Hyperplasia of Schock

We also discuss the probable multifactorial etiology and variable clinical presentations of the lesions, including evidence of HPV 16 expression, as detected by polymerase [ncbi.nlm.nih.gov]

HHHH Syndrome

This condition leads to variable clinical presentations, including episodic hyperammonaemia, hepatic derangement, and chronic neurological manifestations. [hkmj.org]

It has a variable clinical presentation and little phenotype-genotype correlation. [ncbi.nlm.nih.gov]

[…] sensitivity (proportion of positive tests if the disease is present) The clinical sensitivity can be dependent on variable factors such as age or family history. [nature.com]

Cardio-Facio-Cutaneous Syndrome Type 1

presentation [4]. [ojrd.biomedcentral.com]

Conversely, CFCS is genetically heterogeneous and caused by heterozygous activating mutations in the BRAF, MAP2K1, MAP2K2 and KRAS genes, leading to a more variable clinical [ojrd.biomedcentral.com]

Overall, key-features affecting RASopathies include a distinctive facial appearance, postnatal growth failure, a wide spectrum of cardiac defects, variable intellectual disability [ojrd.biomedcentral.com]

2-Aminoadipic 2-Oxoadipic Aciduria

clinical presentation including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy and behavioral disorders, most commonly attention [orpha.net]

[…] diseases Search Search for a rare disease Disease definition 2-aminoadipic 2-oxoadipic aciduria is a rare disorder of lysine and hydroxylysine metabolism characterized by variable [orpha.net]

Blue Cone Monochromacy

Above 95%. 2.3 Clinical sensitivity (proportion of positive tests if the disease is present) The clinical sensitivity can be dependent on variable factors such as age or [nature.com]

Above 90%. 2.4 Clinical specificity (proportion of negative tests if the disease is not present) The clinical specificity can be dependent on variable factors such as age [nature.com]

Analytical sensitivity (proportion of positive tests if the genotype is present) Over 90%. 2.2 Analytical specificity (proportion of negative tests if the genotype is not present [nature.com]

Zlotogora-Ogur Syndrome

CASE REPORT Year : 2007 | Volume : 73 | Issue : 1 | Page : 46-48 EEC syndrome sans clefting: Variable clinical presentations in a family Department of Dermatology, Medical [ijdvl.com]

EEC syndrome sans clefting: Variable clinical presentations in a family. Indian J Dermatol Venereol Leprol [serial online] 2007 [cited 2019 Jan 31];73:46-8. [ijdvl.com]

EEC syndrome sans clefting: Variable clinical presentations in a family. Indian J Dermatol Venereol Leprol [serial online] 2007 [cited 2019 May 13];73:46-8. [ijdvl.com]

Eye Carcinoma in Situ

Clinical examination The clinical presentation of OSSN is variable, making diagnosis sometimes difficult. [eyewiki.aao.org]

presentation was variable, as noted by other authors, ie, chronic sometimes ulcerated keratinized nodules or plaques affecting the interpalpebral bulbar conjunctiva and corneal [ncbi.nlm.nih.gov]

However, patients may complain of redness and variable degrees of ocular irritation secondary to inflammation. [eyewiki.aao.org]

Vegetative Pyoderma Gangrenosum

presentations and variable clinical course. [empendium.com]

presentation, clinical overlap with other conditions, association with several systemic diseases, and absence of defining histopathologic or laboratory findings. [en.wikipedia.org]

Cutaneous Lesions: Clinical Variants of PG PG is protean in its clinical expression with variable presentation according to the variant and the stage of disease. [accessmedicine.mhmedical.com]

Pitt-Hopkins-Like Syndrome Type 1

Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4. [ncbi.nlm.nih.gov]

Patients with intragenic losses of CNTNAP2 have variable clinical presentations. [jmhg.springeropen.com]

Several publications indicate that losing both alleles of CNTNAP2 may provoke a specific clinical disorder and may provide insight into the remarkable clinical variability [jmhg.springeropen.com]