Heterogeneous Disorder: Causes & Reasons

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Possible Causes for Heterogeneous Disorder

Malignant Hyperthermia

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]

Jejunal Diverticulosis

We conclude that (a) intestinal pseudoobstruction is a major clinical manifestation of jejunal diverticulosis, (b) jejunal diverticulosis is a heterogenous disorder associated [ncbi.nlm.nih.gov]

A heterogenous disorder caused by a variety of abnormalities of smooth muscle or myenteric plexus. [unboundmedicine.com]

A heterogeneous disorder caused by a variety of abnormalities of smooth muscleor myenteric plexus. Gastroenterology. 1983; 85;538-547. 6. Wilcox RD, Shatney CH. [abdominalsurg.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]

Genetic counseling Hereditary Spastic Paraplegia (HSP) is a group of clinically and genetically heterogeneous disorders characterized by lower extremity spasticity and weakness [asperbio.com]

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]

Hereditary Spastic Paraplegia

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]

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]

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]

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]

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]

Limb-Girdle Muscular Dystrophy Type 1H

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]

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]

Genetic Heterogeneity of Miyoshi Muscular DystrophyMiyoshi muscular dystrophy is a genetically heterogeneous disorder: MMD2 ( OMIM ) has been mapped to chromosome 10p, and [mendelian.co]

Peeling Skin Syndrome Type 3

APSS is a clinically and genetically heterogeneous disorder, and this Jordanian pedigree underscores the likelihood of still further heterogeneity. © 2011 Wiley Periodicals [pubmed.ncbi.nlm.nih.gov]

disorder. [genome.jp]

Pavlovic S, Krunic AL, Bulj TK, Medenica MM, Fong K, Arita K, McGrath JA: Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder. [karger.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]

Generalized Epilepsy with Febrile Seizures Plus

Abstract The clinical and genetic relationships of febrile seizures and the generalized epilepsies are poorly understood. We ascertained a family with genealogical information in 2000 individuals where there was an unusual concentration of individuals with febrile seizures and generalized epilepsy in one part of the[…] [doi.org]

Autosomal Recessive Spinocerebellar Ataxia

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

The ataxias are clinically heterogenous disorders caused by pathological processes affecting the cerebellum and cerebellar pathways resulting in impaired coordination. [practicalneurology.com]

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

Alagille Syndrome

Mutations in NOTCH2 cuase Alagille syndrome (a heterogenous disorder). D. Warthen, R. McDaniell, A. Pai, J.J.D. Morrissette, B.M. Kamath, D.A. Piccoli, I.D. Krantz, N.B. [ashg.org]

It has been considered a genetically heterogeneous disorder of the Notch signaling pathway. [ncbi.nlm.nih.gov]

NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am J Hum Genet. 2006 Jul;79(1):169-73. Epub 2006 May 10. [ghr.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 Recessive Spastic Paraplegia Type 27

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

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

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 Isolated Optic Atrophy

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

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

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]

Familial Hypocalciuric Hypercalcemia Type 3

CONTEXT: Familial hypocalciuric hypercalcemia (FHH) is a genetically heterogenous disorder that consists of three defined types, FHH1, FHH2, and FHH3 whose chromosomal locations [ncbi.nlm.nih.gov]

HCC is a genetically heterogeneous disorder with three variants: types 1, 2, and 3. [iofbonehealth.org]

A correction has been published 1 Correspondence 14 Citing Articles To the Editor: Familial hypocalciuric hypercalcemia is a genetically heterogeneous disorder with three [nejm.org]

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 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]

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

disorders clinically characterized by gait disturbance due to spasticity and weakness of lower limbs. [siicsalud.com]

Autosomal Recessive Osteopetrosis Type 7

Autosomal recessive osteopetrosis (ARO) is usually a genetically heterogeneous disorder attributed to reduced bone resorption by osteoclasts. some patients and that its severity [enzymedica-digest.com]

Autosomal recessive osteopetrosis (ARO) is a genetically heterogeneous disorder attributed to reduced bone resorption by osteoclasts. [abdn.pure.elsevier.com]

disorder. [journals.sagepub.com]

Autosomal Recessive Spastic Paraplegia Type 55

The hereditary spastic paraplegias (HSP) are a group of genetically heterogeneous disorders in which the predominant symptom is insidiously progressive, bilaterally symmetric [neurology.org]

Systemic Features: This is a clinically heterogeneous disorder with extensive neurological deficits. [disorders.eyes.arizona.edu]

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

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]

Bardet-Biedl Syndrome Type 11

An autosomal recessive form of Bardet-Biedl syndrome (OMIM:209900), a genetically heterogeneous disorder characterised by usually severe pigmentary retinopathy, early-onset [medical-dictionary.thefreedictionary.com]

Bardet-Biedl syndrome type 11 An autosomal recessive form of Bardet-Biedl syndrome (OMIM:209900), a genetically heterogeneous disorder characterised by usually severe pigmentary [medical-dictionary.thefreedictionary.com]

Topic: obesity phenotype mutation autosome disorder genetic disorder bardet-biedl syndrome genes genetic heterogeneity gonads polydactyly genetics cognitive impairment pleiotropism [academic.oup.com]

Autosomal Recessive Spastic Paraplegia Type 46

disorders in which progressive difficulty walking due to spastic weakness of both legs is the predominant neurologic syndrome. [mhmedical.com]

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

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

Limb-Girdle Muscular Dystrophy

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

Limb-girdle muscular dystrophy is a genetically heterogeneous disorder. Inheritance can be autosomal dominant or autosomal recessive. [uniprot.org]

Abstract Limb-girdle muscular dystrophy primarily affects the muscles of the hips and shoulders (the "limb-girdle" muscles), although it is a heterogeneous disorder that can [ncbi.nlm.nih.gov]

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]

Pseudohypoparathyroidism

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

INTRODUCTION Pseudohypoparathyroidism (PHP) is a rare heterogeneous disorder. [asean-endocrinejournal.org]

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]

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]

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

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