Heterogeneous Disorder: Causes & Reasons

Possible Causes for Heterogeneous Disorder

MH, which is a clinically heterogeneous autosomal dominant, pharmacogenetic disorder, with a reduced penetrance and variable expression, has been reported from many countries [ispub.com]

The Orphanet rare disease nomenclature is comprised of a heterogeneous typology of entities of decreasing extension, including: groups of disorders, disorders, sub-types. [orpha.net]

The genetic mutations associated with this disorder lead to the heterogeneity of inheritance and clinical presentation. [calpoison.org]

Pure Hereditary Spastic Paraplegia

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]

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

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

Hereditary Spastic Paraplegia

HSP is a clinically and genetically heterogeneous disorder of the upper motor neurons. Symptoms beginning in early childhood may resemble spastic cerebral palsy. [ncbi.nlm.nih.gov]

Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous disorders associated with spastic paraparesis (pure HSP) with or without [ncbi.nlm.nih.gov]

Abstract Hereditary spastic paraplegias (HSP) are a group of clinically and genetically heterogeneous disorders with the hallmark of progressive spastic gait disturbance. [ncbi.nlm.nih.gov]

Hypergonadotropic Hypogonadism - Partial Alopecia

Heart-hand syndrome Slovenian type: Heart-hand syndrome (HHS) is a clinically and genetically heterogeneous disorder characterized by the co-occurrence of a congenital cardiac [ab-y-ss.com]

Heart-hand syndrome (HHS) is a clinically and genetically heterogeneous disorder characterized by the co-occurrence of a congenital cardiac disease and limb malformations. [genscript.com]

Distal Spinal Muscular Atrophy

Abstract Distal hereditary motor neuropathy (dHMN) is a heterogeneous disorder characterized by degeneration of motor nerves in the absence of sensory abnormalities. [ncbi.nlm.nih.gov]

Distal hereditary motor neuronopathy is a genetically heterogeneous disorder, with multiple genes and mapped loci. [flybase.org]

Distal hereditary motor neuropathy is a heterogeneous group of disorders characterised by a pure motor axonal neuropathy. [ncbi.nlm.nih.gov]

Congenital Myopathy with Excess of Thin Filaments

CFTD is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. [genscript.com]

In conclusion, this approach may be helpful for the identification of clinically undiagnosed patients with highly heterogeneous disorders. [spandidos-publications.com]

Further application of this approach will be helpful for the identification of several undiagnosed patients with this type of highly heterogeneous disorder. [spandidos-publications.com]

Neurodegeneration with Brain Iron Accumulation

disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and [flybase.org]

This review describes the clinical presentations, imaging findings, pathologic features, and treatment considerations for this heterogeneous group of disorders. [ncbi.nlm.nih.gov]

Neurodegeneration with brain iron accumulation (NBIA), formerly known as Hallervorden-Spatz syndrome, is a heterogeneous group of disorders with different treatment options [ncbi.nlm.nih.gov]

Limb-Girdle Muscular Dystrophy Type 1H

Limb-girdle muscular dystrophies (LGMDs) are a genetically heterogeneous group of neuromuscular disorders with a selective or predominant involvement of shoulder and pelvic [scinapse.io]

AB - Limb-girdle muscular dystrophies (LGMDs) are a genetically heterogeneous group of neuromuscular disorders with a selective or predominant involvement of shoulder and [moh-it.pure.elsevier.com]

Heart-hand syndrome (HHS) is a clinically and genetically heterogeneous disorder characterized by the co-occurrence of a congenital cardiac disease and limb malformations. [abcam.com]

Autosomal Recessive Spinocerebellar Ataxia

Inherited ataxias are an extremely heterogeneous group of disorders. [experts.umich.edu]

Definition Spinocerebellar ataxia defines a clinically and genetically heterogeneous group of cerebellar disorders. [uniprot.org]

AB - Inherited ataxias are an extremely heterogeneous group of disorders. [experts.umich.edu]

Pseudohypoparathyroidism

PHP is a group of heterogeneous disorders defined by targeted organ (kidney and bone) resistance to the action of PTH. [unboundmedicine.com]

Pseudohypoparathyroidism (PHP) is a rare heterogeneous genetic disorder characterized by end-organ resistance to parathyroid hormone due to partial deficiency of the α subunit [ncbi.nlm.nih.gov]

Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders characterized by variable insensitivity to parathyroid hormone. [ncbi.nlm.nih.gov]

Congenital Muscular Dystrophy

BACKGROUND: Congenital muscular dystrophies (CMD) with hypoglycosylation of α-dystroglycan are clinically and genetically heterogeneous disorders that are often associated [ncbi.nlm.nih.gov]

Abstract Congenital muscular dystrophies (CMD) are a group of heterogeneous disorders. [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]

Autosomal Recessive Isolated Optic Atrophy

(OMIM phenotype number #259700 ) Autosomal-recessive infantile malignant osteopetrosis is a severe, malignant, and heterogeneous genetic disorder. [iofbonehealth.org]

disorder that share profound visual impairment from birth and occasionally other features from neurosensory hearing impairment to progressive renal failure). [bcm.edu]

disorders, which can be divided into 2 subgroups: isolated hereditary optic atrophies and optic neuropathies as part of complex disorders. de Bei hereditären Optikusatrophien [de.glosbe.com]

Autosomal Recessive Spinocerebellar Ataxia 18

Definition Spinocerebellar ataxia defines a clinically and genetically heterogeneous group of cerebellar disorders. [uniprot.org]

UniProtKB/Swiss-Prot : 75 Spinocerebellar ataxia, autosomal recessive, 18: Spinocerebellar ataxia defines a clinically and genetically heterogeneous group of cerebellar disorders [malacards.org]

Ataxias are a heterogeneous group of neurological disorders affecting individuals of all age groups and are characterized by the incoordination of voluntary movements. [dnatesting.uchicago.edu]

Congenital Ichthyosis

Abstract Ichthyosis is a heterogeneous disorder characterized by abnormal skin scaling over the whole body. [ncbi.nlm.nih.gov]

In consanguineous families with autosomal recessive genetically heterogeneous disorders, it is possible to narrow down the candidate gene/genes by recognizing the regions [e-ijd.org]

Autosomal recessive congenital ichthyosis (ARCI) is a group of rare, clinically heterogeneous skin disorders that affect cornification. [ncbi.nlm.nih.gov]

Autosomal Recessive Spastic Paraplegia Type 27

Abstract Background: Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous neurodegenerative disorder characterized by progressive spastic paraparesis [neurology.org]

Folstein SE et al. (2001) Genetics of autism: complex aetiology for a heterogeneous disorder. [^] 34. [moldiag.com]

In the future prevalence studies will be based on the presence of specific gene mutations, but for uncommon, genetically heterogeneous disorders such as HSP this is not yet [jnnp.bmj.com]

Autosomal Recessive Spastic Paraplegia Type 28

AB - Autosomal dominant spinocerebellar ataxias (SCAs) are genetically heterogeneous neurological disorders characterized by cerebellar dysfunction mostly due to Purkinje [moh-it.pure.elsevier.com]

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

Folstein SE et. al. (2001) Genetics of autism: complex aetiology for a heterogeneous disorder. [^] 34. [moldiag.com]

Autosomal Recessive Spastic Paraplegia Type 54

AB - Hereditary spastic paraplegias (HSP) are a genetically heterogeneous group of disorders characterized by a distal axonopathy of the corticospinal tract motor neurons [miami.pure.elsevier.com]

[…] neurological disorders. [jnnp.bmj.com]

[…] group of disorders characterized by a distal axonopathy of the corticospinal tract motor neurons leading to progressive lower limb spasticity and weakness. [miami.pure.elsevier.com]

Congenital Merosin-Positive Muscular Dystrophy

Abstract Merosin-positive congenital muscular dystrophy is a heterogenous group of disorders with varying clinical presentations and severity. [ncbi.nlm.nih.gov]

AB - The congenital muscular dystrophies (CMDs) are a heterogeneous group of disorders. [jhu.pure.elsevier.com]

Abstract Classical merosin (alpha2 laminin)-positive congenital muscular dystrophy is a heterogeneous subgroup of disorders; a few cases characterized by severe mental retardation [discovery.ucl.ac.uk]

Autosomal Dominant Spastic Paraplegia Type 10

Hereditary Spastic Paraplegia Overview Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative disorders, characterized [dnatesting.uchicago.edu]

Introduction The hereditary spastic paraplegias (HSPs) are a heterogeneous group of disorders united by the common feature of a prominent, progressive, length‐dependent axonopathy [onlinelibrary.wiley.com]

A similar strategy is relevant for other heterogeneous neurological disorders. [journals.plos.org]

Combined Immunodeficiency due to CD3-Gamma Deficiency

Severe Combined Immunodeficiency Severe, combined immunodeficiency (SCID) is a group of heterogeneous disorders associated with lack of both T- and B-cell function. [slideshare.net]

Abraham, PhD // Date: NOV.1.2013 // Source: Clinical Laboratory News Severe combined immunodeficiencies (SCID) are a group of genetically heterogeneous disorders with a common [aacc.org]

[…] group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. [sinobiological.com]

Primary Torsion Dystonia

Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous movement disorder. DYT1 on chromosome 9q34 was the first PTD gene to be mapped. [ncbi.nlm.nih.gov]

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

Abstract Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous movement disorder. DYT1 on chromosome 9q34 was the first PTD gene to be mapped. [discovery.ucl.ac.uk]

Scapuloperoneal Spinal Muscular Atrophy

disorders involving topographically distinct nerves and muscles. [ncbi.nlm.nih.gov]

Abstract Scapuloperoneal (SP) syndromes are heterogeneous neuromuscular disorders which are characterized by weakness in the distribution of shoulder girdle and peroneal muscles [ncbi.nlm.nih.gov]

[…] muscular atrophy (SPSMA) and hereditary motor and sensory neuropathy type IIC (HMSN IIC, also known as HMSN2C or Charcot-Marie-Tooth disease type 2C (CMT2C)) are phenotypically heterogeneous [ncbi.nlm.nih.gov]

Primary Ciliary Dyskinesia 7

It is thus a heterogeneous disorder, with the same clinical manifestations being capable of being caused by multiple causes. [news-medical.net]

disorder affecting motile cilia [ 3 ] which are made up of approximately 250 proteins. [ 4 ] Around 90% [ 5 ] of individuals with PCD have ultrastructural defects affecting [sites.google.com]

Symptoms triggered by dysfunctional cilia form a broad and phenotypically heterogeneous category of overlapping disorders, commonly named ciliopathies. [jmg.bmj.com]

Autosomal Dominant Spastic Paraplegia Type 42

A similar strategy is relevant for other heterogeneous neurological disorders. [journals.plos.org]

Table 1 Clinical features Key points The hereditary spastic paraplegias (HSPs) are a genetically and clinically heterogeneous group of neurodegenerative disorders. [jmg.bmj.com]

Introduction The spinocerebellar degenerative disorders; hereditary ataxias (HA) and hereditary spastic paraplegias (HSP) are heterogeneous disorders causing progressive gait [journals.plos.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]

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

Folstein SE et al. (2001) Genetics of autism: complex aetiology for a heterogeneous disorder. [^] 34. [moldiag.com]

Limb-Girdle Muscular Dystrophy Type 1E

Limb-girdle muscular dystrophies (LGMD) are heterogeneous disorders with autosomal inheritance. [ncbi.nlm.nih.gov]

Given that limb-girdle muscular dystrophy is a heterogeneous group of disorders, identification of the underlying genetic cause can help predict outcome and inform recurrence [invitae.com]

Mitochondrial Myopathies These are a clinically and genetically heterogenous group of disorders that include mitochondrial encephalopathy with lactic acidosis and stroke-like [lecturio.com]

Collagenopathy Type 2 - Collagenopathy Type 11

NGS and collagenopathies Collagenopathies are a heterogeneous group of hereditary disorders of connective tissue. [xiahepublishing.com]

Abstract Purpose Skeletal dysplasias comprise a heterogeneous group of inherited disorders of development, growth, and maintenance of the human skeleton. [gimjournal.org]

It is a heterogeneous bone disorder characterized by frequent fractures and seems to be inherited both in dominant and recessive manners. [xiahepublishing.com]

Inherited white matter diseases are rare and heterogeneous disorders usually encountered in infancy. Adult-onset forms are increasingly recognized. [academia.edu]

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 due to DGAT2 Mutation

Abstract Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy and is a genetically and clinically heterogeneous disorder. [pubmed.ncbi.nlm.nih.gov]

Pontocerebellar Hypoplasia Type 1C

Pontocerebellar hypoplasia (PCH) refers to a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. [ncbi.nlm.nih.gov]