Clinical Heterogeneity: Causes & Reasons

Possible Causes for Clinical Heterogeneity

They are clinically heterogeneous, can occur at any age, and generally manifest with a wide array of clinical symptoms, usually being defined as multisystem diseases. [neurohic.com]

CIII deficiencies are rare and manifest heterogeneous clinical presentations. [ncbi.nlm.nih.gov]

Leigh syndrome is a group of clinically heterogeneous conditions with widely varying clinical manifestations.1,-,3 More than 75 causative genes have been identified in Leigh [ng.neurology.org]

Pure Hereditary Spastic Paraplegia

Hereditary spastic paraplegias (HSP) are genetically and clinically heterogeneous neurodegenerative disorders. [ncbi.nlm.nih.gov]

Abstract Hereditary spastic paraplegia is a clinically and genetically heterogeneous disorder characterized by progressive spasticity of the lower limbs. [ncbi.nlm.nih.gov]

BACKGROUND: Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous disorder characterized by a progressive weakening and spasticity of the lower [ncbi.nlm.nih.gov]

Muscular Dystrophy-Dystroglycanopathy Type C5

LGMD: A CLINICALLY HETEROGENEOUS GROUP OF MUSCULAR DYSTROPHIES Limb-girdle muscular dystrophy (LGMD) comprises a genetically and clinically heterogeneous group of childhood [journals.lww.com]

The congenital muscular dystrophies are a group of genetically and clinically heterogeneous hereditary myopathies characterized by congenital hypotonia and muscle weakness [egl-eurofins.com]

clinically heterogeneous hereditary myopathies mainly with autosomal recessive type of inheritance. [paperity.org]

Autosomal Recessive Spastic Paraplegia Type 39

Hereditary spastic paraplegia (HSP) Hereditary spastic paraplegia (HSP, SPG) is a genetic and clinical heterogeneous disorder for which mutations have been reported in more [molgen.ua.ac.be]

Hereditary spastic paraplegia 2017 Billable/Specific Code Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative [medicbind.com]

Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11). [ghr.nlm.nih.gov]

Hereditary Spastic Paraplegia

From Wikidata Jump to navigation Jump to search genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia [wikidata.org]

This case confirms the high genetic and clinical heterogeneity associated with SPG11 mutations. [ncbi.nlm.nih.gov]

Abstract AIM: Hereditary spastic paraplegia (HSP) are a genetically and clinically heterogeneous group of disorders. [ncbi.nlm.nih.gov]

Tricho-Dento-Osseous Syndrome

Clinical heterogeneity in the tricho-dento-osseous syndrome. [scholars.uthscsa.edu]

Human Genetics, 64 (2), 116-121. https://doi.org/10.1007/BF00327105 Clinical heterogeneity in the tricho-dento-osseous syndrome. / Quattromani, F.; Shapiro, S. [scholars.uthscsa.edu]

Research output : Contribution to journal › Article Quattromani, F, Shapiro, SD, Young, RS, Jorgenson, RJ, Parker, JW, Blumhardt, R & Reece, RR 1983, ' Clinical heterogeneity [scholars.uthscsa.edu]

Nemaline Myopathy

PURPOSE: Nemaline myopathy (NM) is a clinical heterogeneous congenital myopathy characterized by the presence of subsarcolemmal or cytoplasmic rod-like structures that call [ncbi.nlm.nih.gov]

Nemaline myopathy is a clinically heterogeneous congenital myopathy caused by mutations in at least 6 genes related to thin filaments. [ncbi.nlm.nih.gov]

Nemaline myopathy (NM) is a genetically and clinically heterogenous muscle disorder, which is myopathologically characterized by nemaline bodies. [ncbi.nlm.nih.gov]

Congenital Scoliosis due to Bony Malformation

Clinical and genetic heterogeneity have been reported; at least three types of brachyolmia are known. [keio.pure.elsevier.com]

[…] genetically heterogeneous skeletal dysplasias characterised by a short trunk, scoliosis and mild short stature. [medical-dictionary.thefreedictionary.com]

Diseases List Brachyolmia is a rare clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized [bmrb.wisc.edu]

Early-Onset Cerebellar Ataxia

The data suggest that EOCA may be genetically and clinically heterogeneous. [doi.org]

Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained tendon reflexes. [doi.org]

Marchesani-Weill Syndrome

These results support the clinical homogeneity but the genetic heterogeneity of WMS. ...read moreread less [typeset.io]

Clinical heterogeneity was very obvious in this family. [mednexus.org]

Here, we report on the exclusion of chromosome 19p13.3-p13.2 in a large AD WMS family and show that, despite clinical homogeneity, AD and AR WMS are genetically heterogeneous [hal.inserm.fr]

Mitochondrial DNA Depletion Syndrome

Abstract Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a genetically and clinically heterogeneous group of autosomal recessive disorders that are characterized by [ncbi.nlm.nih.gov]

Homepage Rare diseases Search Search for a rare disease Mitochondrial DNA depletion syndrome Disease definition The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically [orpha.net]

Mitochondrial DNA depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterised by a quantitative reduction of the mitochondrial DNA [ncbi.nlm.nih.gov]

Distal Spinal Muscular Atrophy

heterogeneities were observed in patients with the DCTN1 mutation. [ncbi.nlm.nih.gov]

However, clinical heterogeneities were observed between the present and previously reported patients. [spandidos-publications.com]

Distal hereditary motor neuronopathies (distal HMN, dHMN), sometimes also called distal hereditary motor neuropathies, are a genetically and clinically heterogeneous group [en.wikipedia.org]

Autosomal Dominant Spastic Paraplegia Type 9A

Clinical observations in autosomal recessive spastic paraplegia in childhood and further evidence for genetic heterogeneity. [jamanetwork.com]

Bonneau D, Rozet JM and Bulteau C (1993) X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus. Journal of Medicinal Genetics 30: 381–384. [els.net]

Neurol India 2016;64:171-2 Sir, Hereditary spastic paraplegia (HSP) or Strümpell–Lorrain syndrome refers to clinically and genetically heterogeneous groups of conditions that [neurologyindia.com]

Epidermolysis Bullosa Pruriginosa

Dystrophic epidermolysis bullosa (DEB) is a rare, clinically heterogeneous, blistering genodermatosis inherited as either autosomal dominant or recessive trait. [ncbi.nlm.nih.gov]

EB pruriginosa exhibits extensive clinical heterogeneity with variable expression and delayed age of onset. [ncbi.nlm.nih.gov]

Dystrophic epidermolysis bullosa is a rare and clinically heterogeneous mechanobullous disorder. [ncbi.nlm.nih.gov]

Lymphedema Distichiasis Syndrome

Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations. J Med Genet. 2001;38(11):761-6. [genetics4medics.com]

Jones Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations J Med Genet, 38 (2001), pp. 761-766 [4.] B.P. Brooks, S.L. Dagenais, C.C. [analesdepediatria.org]

Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations. J Med Genet. 2001 Nov;38(11):761-6. [medlineplus.gov]

Aggressive Systemic Mastocytosis

Mastocytosis is a clinically heterogenous disease characterized by mast cell hyperplasia in skin, bone marrow and/or visceral organs. [ncbi.nlm.nih.gov]

Lange M, Nedoszytko B, Gorska A, Zawrocki A, Sobjanek M, Kozlowski D.Mastocytosis in children and adults: clinical disease heterogeneity. [rarediseases.org]

[…] presentations are heterogeneous. [symptoma.com]

Primary Torsion Dystonia

BACKGROUND: The focal primary torsion dystonias (FPTDs) form a group of clinical heterogeneous syndromes and can be considered a genetic complex disease; it is thought to [ncbi.nlm.nih.gov]

Abstract Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous group of movement disorders, usually inherited in an autosomal dominant fashion. [ncbi.nlm.nih.gov]

Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous movement disorder. [ncbi.nlm.nih.gov]

Autosomal Dominant Spastic Paraplegia Type 10

Aim: Hereditary spastic paraplegia (HSP) are a genetically and clinically heterogeneous group of disorders. [tandfonline.com]

Hereditary spastic paraplegia 2017 Billable/Specific Code Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative [medicbind.com]

Clinical Utility of Genetic Testing for Hereditary Spastic Paraplegia Genetic testing for HSP can present challenges, due to the wide clinical and genetic heterogeneity that [dnatesting.uchicago.edu]

Autosomal Recessive Spastic Paraplegia Type 26

Hereditary spastic paraplegia (HSP) Hereditary spastic paraplegia (HSP, SPG) is a genetic and clinical heterogeneous disorder for which mutations have been reported in more [molgen.ua.ac.be]

Clinical heterogeneity of familial spastic paraplegia linked to chromosome 2p21. Human heredity, 48(3), 169-178. Scott, W. K., Gaskell, P. C., Lennon, F., Wolpert, C. [hihg.med.miami.edu]

Methylmalonic Acidemia with Homocystinuria

Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cb1C). [nature.com]

Its late clinical presentation is heterogeneous and may lead to a diagnostic delay. [scienceopen.com]

heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC). 8 Rosenblatt DS...Seashore MR 9266389 1997 19 A congenital anomaly of vitamin B12 [malacards.org]

Limb-Girdle Muscular Dystrophy Type 1H

Our findings further expand the clinical and genetic heterogeneity of LGMDs. Xin was first cloned using differential mRNA display from the developing chicken heart. [scinapse.io]

Our findings further expand the clinical and genetic heterogeneity of LGMDs. [moh-it.pure.elsevier.com]

Our findings further expand the clinical and genetic heterogeneity of LGMDs. https://hal.archives-ouvertes.fr/hal-00501994 Contributeur : Hal Peer > Soumis le : mardi 13 juillet [hal.archives-ouvertes.fr]

Congenital Muscular Dystrophy

Congenital myasthenic syndrome shows a wide clinical heterogeneity. [ncbi.nlm.nih.gov]

Sequencing individual genes by Sanger sequencing is a time-consuming and costly approach to resolve clinically heterogeneous genetic disorders. [ncbi.nlm.nih.gov]

The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance [scielo.br]

Lethal Infantile Mitochondrial Myopathy

Mitochondrial diseases are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. [ncbi.nlm.nih.gov]

Clinical Manifestations of Mitochondrial Cytopathies • Disorders due to mitochondrial mutations are heterogeneous, and clinical manifestations range from single organ involvement [slideshare.net]

[from GeneReviews ] From GeneReviews Overview Mitochondrial diseases are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial [ncbi.nlm.nih.gov]

Autosomal Recessive Spastic Paraplegia Type 61

Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11). [ghr.nlm.nih.gov]

[…] and genetically heterogeneous group of motor disorders characterized by bilateral leg spasticity and weakness. [journals.lww.com]

Bonneau D, Rozet JM and Bulteau C (1993) X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus. Journal of Medicinal Genetics 30: 381–384. [els.net]

Neurodegeneration with Brain Iron Accumulation

The clinical, radiographic and genetic heterogeneity of NBIA has to be underlined. [ncbi.nlm.nih.gov]

The clinical manifestations are highly heterogenic and often overlap among the NBIA group. [moh-it.pure.elsevier.com]

Congenital Muscular Dystrophy with Integrin Alpha-7 Deficiency

Condition Description The congenital muscular dystrophies are a group of genetically and clinically heterogeneous hereditary myopathies characterized by congenital hypotonia [egl-eurofins.com]

Muscular dystrophies are a group of diseases genotypically and clinically heterogeneous, characterized by progressive muscular weakness. [research.unipd.it]

Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of inherited muscle disorders. [ncbi.nlm.nih.gov]

Autosomal Recessive Spastic Paraplegia Type 63

Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11). [ghr.nlm.nih.gov]

[…] and genetically heterogeneous group of motor disorders characterized by bilateral leg spasticity and weakness. [journals.lww.com]

The association of hereditary spastic paraplegia and pigmented maculopathy has rarely been described, yet there is considerable clinical heterogeneity among the few reported [jnnp.bmj.com]

Rigid Spine Syndrome

MmD is a clinically heterogeneous condition, in which four subgroups have been distinguished. Prevalence is unknown. [humpath.com]

These findings have demonstrated that genetic diversity corresponds to the observed clinical heterogeneity. [enmc.org]

Exome sequencing (whole exome sequencing [WES] or clinical exome sequencing [CES]) in clinically and genetically heterogeneous disease (e.g. intellectual disability). [medical-genetics.de]

Autosomal Recessive Spastic Paraplegia Type 46

Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11). [ghr.nlm.nih.gov]

[…] and genetically heterogeneous group of motor disorders characterized by bilateral leg spasticity and weakness. [journals.lww.com]

Paisan-Ruiz C, Nath P, Wood NW, Singleton A, Houlden H (2008) Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin [omicsonline.org]

Hoyeraal-Hreidarsson Syndrome

Clinical heterogeneity in a family with DKC1 mutation, dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome in first cousins. [pagepress.org]