Clinical Heterogeneity: Causes & Reasons

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Possible Causes for Clinical Heterogeneity

Leigh's Disease

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]

Abstract Leigh's disease is a heterogeneous group of disorders, in which clinical and biochemical features suggest abnormal pyruvate metabolism. [ncbi.nlm.nih.gov]

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]

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]

The disease is genetically and clinically heterogeneous, and the age of onset can vary from neonate to adult. [ncbi.nlm.nih.gov]

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]

MmD is clinically heterogeneous and distinct phenotypes have been associated with recessive mutations in either the selenoprotein N ( SEPN1 ) or the skeletal muscle ryanodine [wikigenes.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]

Muscular Dystrophy-Dystroglycanopathy Type C5

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

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]

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

Mitochondrial DNA Depletion Syndrome

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]

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]

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]

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]

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]

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

BACKGROUND: Brachyolmia is a heterogeneous group of skeletal dysplasias that primarily affects the spine. [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]

Abstract The distal hereditary motor neuropathies (distal HMN) are clinically and genetically heterogeneous and are subdivided in seven subtypes according to the mode of inheritance [ncbi.nlm.nih.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]

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]

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]

Congenital muscular dystrophies are a genetically and clinically heterogeneous group of disorders typically characterized by weakness and dystrophic pattern on muscle biopsy [dnatesting.uchicago.edu]

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]

Erickson RP, Dagenais SL, Caulder MS, et al., Clinical heterogeneity in lymphoedema-distichiasis syndrome with FOXC2 truncating mutations. J Med Genet. 2001;38:761-6. [rarediseases.org]

Cerulean Cataract

Due to clinical heterogeneity, it is not always possible to classify specific families based on the appearance and natural history of the lens opacities alone. [disorders.eyes.arizona.edu]

About 23% are familial but even among these there is considerable genetic and clinical heterogeneity that confounds the nosology despite notable recent progress in genotyping [disorders.eyes.arizona.edu]

Mutations in the same gene also cause an allelic disorder designated nonnuclear polymorphic congenital cataracts or PCC ( 601286 ), which may simply be clinical heterogeneity [disorders.eyes.arizona.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 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]

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]

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]

Hoyeraal-Hreidarsson Syndrome

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

Multiple Epiphyseal Dysplasia

Multiple epiphyseal dysplasia is a genetically and clinically heterogeneous osteochondroplasia with symmetrical involvement. [ncbi.nlm.nih.gov]

Due to its clinical heterogeneity diagnosis may be difficult. Mutations of at least six separate genes can cause MED. [ncbi.nlm.nih.gov]

BACKGROUND: Multiple epiphyseal dysplasia (MED) is a common genetically and clinically heterogeneous skeletal dysplasia characterized by early-onset osteoarthritis, mainly [ncbi.nlm.nih.gov]

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]

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]

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]

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]

Generalized Epilepsy with Febrile Seizures Plus

The affected GEFS(+) patients in this family displayed significant inter-family clinical heterogeneity. [ncbi.nlm.nih.gov]

Generalized epilepsy with febrile seizures plus (GEFS+) is an inherited epileptic syndrome with a marked clinical and genetic heterogeneity. [ncbi.nlm.nih.gov]

Abstract Generalized epilepsy with febrile seizures plus (GEFS+) comprises a group of clinically and genetically heterogeneous epilepsy syndrome. [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]

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]

Hereditary Sensory Neuropathy

The hereditary sensory and autonomic neuropathies (HSAN), which are also referred to as hereditary sensory neuropathies (HSN), are a genetically and clinically heterogeneous [flybase.org]

Considerations for testing HSAN is a clinically heterogeneous group of disorders. [invitae.com]

Congenital insensitivity to pain is a rare and very clinically heterogeneous hereditary disease. [elsevier.es]