Familial Form: Causes & Reasons

Possible Causes for Familial Form

Familial forms are very rare (1% of cases) and are transmitted in an autosomal dominant fashion. [orpha.net]

[…] dealing with Wilms tumor, a pediatric form of kidney cancer. [kidneycancer.org]

[…] tumor is a pediatric cancer WilmsKids.com – Building a virtual community Welcome to the WilmsKids.com page on the KCA website, where we’re building a virtual community for families [kidneycancer.org]

Familial Papillary or Follicular Thyroid Carcinoma

Although, the majority of papillary and follicular thyroid carcinomas are sporadic, the familial forms are rare and can be divided into two groups. [ncbi.nlm.nih.gov]

The familial form accounts for 20% to 25% of cases, and is usually a component of multiple endocrine neoplasia (MEN) IIA or IIB, or presents as pure familial medullary thyroid [journals.lww.com]

[…] in two member families may suffer from the sporadic rather than the familial form of the disease. [ncbi.nlm.nih.gov]

Familial Hyperaldosteronism Type 1

FH-II is a nonglucocorticoid remediable familial form of PA ( 6 ). [academic.oup.com]

However, familial forms are rare and represent 5% of adult PA cases. FH-I is estimated at 1% of all PA cases, but may attend 3% in the hypertensive pediatric population. [orpha.net]

Two familial forms of primary aldosteronism [familial hyperaldosteronism (FH)] have been described so far, referred to as FH-I, also known as glucocorticoid-remediable aldosteronism [academic.oup.com]

Amyotrophic Lateral Sclerosis Type 1

In the familial form of ALS several genes mutations have been identified (e.g. SOD1, TDP-43, FUS, and the hexanucleotide repeat expansion in C9ORF72 ) 5. [radiopaedia.org]

form of the disease some map to gene for superoxide dismutase on chromosome 21 Presentation Symptoms painless weakness in one extremity that extends to the other extremities [orthobullets.com]

ALS, formally known as amyotrophic lateral sclerosis and informally as Lou Gehrig's disease, occurs in both a less common familial form (i.e. an inherited form, known as ALS1 [snpedia.com]

Amyotrophic Lateral Sclerosis Type 11

UNCLASSIFIED FORMS OF FAMILIAL ALS Several genetic forms of familial ALS, well-recognized by specialists, are not characterized as a single familial ALS form in the Monogenic [scielo.br]

About 10% of the people with ALS have at least one relative with the disease and are said to have have a familial (inherited) form of the disease (FALS). [rarediseases.info.nih.gov]

CLINICAL AND GENETIC FORMS OF FAMILIAL ALS From a historical perspective, Horton classified familial forms of motor neuron disease in three main clinico-pathological phenotypes [scielo.br]

Chilblain Lupus Erythematosus Type 1

Thus, familial chilblain lupus represents the first monogenic form of cutaneous lupus erythematosus. [semanticscholar.org]

Chilblain lupus erythematosus is a rare chronic form of CLE that typically occurs sporadically but also has a familial form that has been described in several families. [mdedge.com]

Item Type: Article Title: Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p Creators Name: Lee-Kirsch, M.A. and Gong, M. and [edoc.mdc-berlin.de]

Familial Calcium Pyrophosphate Deposition

CPPD disease is generally categorized into sporadic, familial, and secondary (metabolic) forms. [jrheum.org]

forms are rare. [online.epocrates.com]

[…] likely to be involved in the non-familial forms. 8 The gene has been identified as ankylosis protein homolog human gene (ANKH) and is located on chromosome five. 8 A familial [bpac.org.nz]

ABri Amyloidosis

Table 1 Similarities between Alzheimer's disease and familial British and Danish forms of dementia FBD and FDD are characterized by the presence in the brain of extracellular [nature.com]

Abnormalities in each of these identified clearance pathways have been linked to CAA. [11] [12] In familial forms of CAA, the cause of Aβ build up is likely due to increased [en.wikipedia.org]

Apart from the distinction between localised and systemic forms of amyloidosis it is also possible to differentiate between familial and non-familial forms of amyloidosis. [amyloid.nl]

Dilated Cardiomyopathy Type 3B

Clinical family screening identifies familial forms, preclinical cases, and inheritance pattern. [link.springer.com]

[…] isolated arrhythmogenic ventricular dysplasia, biventricular form Familial isolated arrhythmogenic ventricular dysplasia, left dominant form Familial isolated arrhythmogenic [csbg.cnb.csic.es]

[…] dysplasia, left dominant form Orphanet: ORPHA293888 Disease: Familial isolated arrhythmogenic ventricular dysplasia, right dominant form Orphanet: ORPHA293910 Disease: Hereditary [guidetopharmacology.org]

Amyotrophic Lateral Sclerosis Type 4

Since then, approximately twenty other genes have been identified to play a role: C9ORF72, mutation of which is observed in over 40% of familial forms, TARDBP, FUS/TLS, etc [inserm.fr]

In the familial form of ALS several genes mutations have been identified (e.g. SOD1, TDP-43, FUS, and the hexanucleotide repeat expansion in C9ORF72 ) 5. [radiopaedia.org]

About 10% of the people with ALS have at least one relative with the disease and are said to have have a familial (inherited) form of the disease (FALS). [rarediseases.info.nih.gov]

Nontoxic Multinodular Goiter

Conclusions: Our work provided additional evidence to the genetic predisposition to a Chinese familial form of MNG with PTC. [dash.harvard.edu]

Investigate inherited forms of dyshormonogenesis in the pediatric patient, as well as familial papillary carcinoma of the thyroid and familial forms of medullary thyroid cancer [emedicine.medscape.com]

Amyotrophic Lateral Sclerosis Type 6

UNCLASSIFIED FORMS OF FAMILIAL ALS Several genetic forms of familial ALS, well-recognized by specialists, are not characterized as a single familial ALS form in the Monogenic [scielo.br]

ALS patients may be genetically predisposed to develop the disease, and distinct genes have been associated with its familial form. [symptoma.com]

CLINICAL AND GENETIC FORMS OF FAMILIAL ALS From a historical perspective, Horton classified familial forms of motor neuron disease in three main clinico-pathological phenotypes [scielo.br]

Early-Onset Alzheimer Disease

Even though generally speaking the two forms of Alzheimer’s are medically equivalent, the large burden early-onset poses on the family is quite evident. [salon.com]

Some families have mutations in a gene called amyloid precurser protein (APP), which causes an abnormal form of the amyloid protein to be produced. [alzinfo.org]

Infantile Cortical Hyperostosis

Both familial and sporadic forms occur. It is also known as Caffey disease or Caffey's disease. [en.wikipedia.org]

The familial form is inherited in an autosomal dominant fashion with variable penetrance. [en.wikipedia.org]

The familial form tends to have an earlier onset and is present at birth in 24% of cases, with an average age at onset of 6.8 weeks. [en.wikipedia.org]

Medullary Thyroid Carcinoma

MTC may present as a sporadic form, and in about 30% of cases, as a familial form as a part of multiple endocrine neoplasia (see this term); a dominant inherited disease related [orpha.net]

Activating point mutations of the RET proto-oncogene have demonstrated to be causative of the familial form of medullary thyroid cancer, both isolated familial MTC and associated [doi.org]

Familial Visceral Myopathy

Familial and sporadic forms may occur. [bioportfolio.com]

A family with the autosomal dominant form of familial visceral myopathy is described involving four generations. [ncbi.nlm.nih.gov]

Familial and sporadic forms of the disease have been described. 3 Familial visceral myopathy can be transmitted by a dominant or recessive gene. 4 This case we are reporting [jpma.org.pk]

Amyotrophic Lateral Sclerosis Type 5

We search for the genetic factors involved in both the familial and non-familial forms of ALS. [dmpi.duke.edu]

Since then, approximately twenty other genes have been identified to play a role: C9ORF72, mutation of which is observed in over 40% of familial forms, TARDBP, FUS/TLS, etc [inserm.fr]

Genetic factors contribute to the disease in sporadic form as well as in familial form. [dlib.si]

Familial Medullary Thyroid Carcinoma

Abstract The familial form of medullary thyroid carcinoma (MTC) is caused by mutations of the RET protooncogene. [ncbi.nlm.nih.gov]

This presentation is interesting not only because the familial form of MTC is rare, but also because of the favourable outcome of the disease after a combined form of treatment [nuclmed.gr]

In the familial form, the tumor is almost always bilateral. [wikidoc.org]

Hereditary Amyloidosis with Primary Renal Involement

Familial renal amyloidosis is a form of amyloidosis primarily presenting in the kidney.It is associated most commonly with congenital mutations in the fibrinogen alpha chain [en.wikipedia.org]

Familial or hereditary AL is the least common form. [mayomedicallaboratories.com]

C.: Studies of the pathogenesis of a familial form of renal amyloidosis. Trans. Assoc. Am. Phys. 94: 211-216, 1981. 14. Mornaghi, R.; Rubinstein, P.; Franklin, E. [genome.jp]

Familial Papillary Thyroid Carcinoma with Papillary Renal Cell Carcinoma

Although, the majority of papillary and follicular thyroid carcinomas are sporadic, the familial forms are rare and can be divided into two groups. [ncbi.nlm.nih.gov]

Abstract Papillary thyroid carcinoma usually is sporadic, but may occur in a familial form. [ncbi.nlm.nih.gov]

Porphyria Cutanea Tarda

Abstract Porphyria cutanea tarda is the most frequent porphyria and occurs in both sporadic and familial forms. [ncbi.nlm.nih.gov]

Evidence of a deficiency of URO-D in red blood cells confirms a diagnosis of the familial form of PCT. [orpha.net]

and a sporadic (but probably also familial) form in which the reduction is confined to the liver. [medical-dictionary.thefreedictionary.com]

Amyotrophic Lateral Sclerosis Type 3

In the familial form of ALS several genes mutations have been identified (e.g. SOD1, TDP-43, FUS, and the hexanucleotide repeat expansion in C9ORF72) 5. [radiopaedia.org]

Genetic factors contribute to the disease in sporadic form as well as in familial form. [dlib.si]

High impact information on ALS3 However, familial forms of ALS have been described--autosomal dominant forms ( ALS1, ALS3 ), clinically indistinguishable from the sporadic [wikigenes.org]

Amyotrophic Lateral Sclerosis Type 8

Abstract A familial form of Amyotrophic lateral sclerosis (ALS8) is caused by a point mutation (P56S) in the vesicle-associated membrane protein associated protein B (VapB [ncbi.nlm.nih.gov]

About 10% of the people with ALS have at least one relative with the disease and are said to have have a familial (inherited) form of the disease (FALS). [rarediseases.info.nih.gov]

UNCLASSIFIED FORMS OF FAMILIAL ALS Several genetic forms of familial ALS, well-recognized by specialists, are not characterized as a single familial ALS form in the Monogenic [scielo.br]

Amaurotic Familial Idiocy

@article{Norman1941ACF, title={A CONGENITAL FORM OF AMAUROTIC FAMILY IDIOCY.}, author={R. M. [semanticscholar.org]

A REPORT OF TWO CASES OF THE JUVENILE FORM OF AMAUROTIC FAMILIAL IDIOCY (CEREBROMACULAR DEGENERATION) Statistics from Altmetric.com This is a PDF-only article. [jnnp.bmj.com]

Kufs' disease, an adult form of amaurotic familial idiocy, under Hugo Kufs, German neuropathologist, 1871-1955. Bibliography C. [whonamedit.com]

Hyperaldosteronism

To date, 3 familial forms of PA have been described and termed familial hyperaldosteronism types I, II, and III (FH-I to -III). [ncbi.nlm.nih.gov]

Familial forms of primary aldosteronism have been suggested to account for up to 6% of cases in referral centers. [ncbi.nlm.nih.gov]

Four familial forms of primary aldosteronism (FH-I to FH-IV) have been described. [ncbi.nlm.nih.gov]

Paroxysmal Exertion-Induced Dyskinesia

In some familial forms, epilepsy or migraine can co-occur. [orpha.net]

Advances in the genetic causes of paroxysmal dyskinesias, particularly in the familial forms, have allowed further studies of phenotype-genotype correlation. [medlink.com]

Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98811Disease definitionParoxysmal exertion-induced dyskinesia (PED) is a form [malacards.org]

Benign Familial Infantile Epilepsy Type 4

Sex Males = females in the non-familial form but more females are reported in the familial cases. Neurological and mental status Normal. [epilepsy.com]

Autosomal dominant familial and sporadic forms have been identified. [medvik.cz]

Some of these entities have been included in the last classification proposed by the ILAE and have been differentiated in familial and non-familial forms. [ncbi.nlm.nih.gov]

Chondrocalcinosis

The clinical and radiological features were heterogeneous, with polyarticular forms with marked clinical expression in one family, oligoarticular forms with few symptoms in [biomedsearch.com]

Production of symmetric proliferative synovitis, clinically similar to rheumatoid arthritis and frequently seen in familial forms with early onset 4. intervertebral disk and [slideshare.net]

Spastic Pseudosclerosis

A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. [hon.ch]

Mitochondrial Parkinson's Disease

Several of the genes recently found to be mutated in familial forms of PD, including parkin and PINK1, have putative functions in mitochondrial homeostasis. [anr.fr]

This highly integrated approach is expected to several important advances in our understanding of mitochondrial dysfucntions linked to familial and sporadic forms of PD. [anr.fr]