Autosomal Recessive: Causes & Reasons

Possible Causes for Autosomal Recessive

[…] effect from the mutant FECH allele.25 The prevalence of autosomal recessive EPP has not been established. [jmg.bmj.com]

EPP is inherited in an autosomal recessive manner. [ncbi.nlm.nih.gov]

Register Autosomal recessive erythropoietic protoporphyria: a syndrome of severe photosensitivity and liver failure - 24 Hours access EUR €36.00 GBP £28.00 USD $45.00 Rental [academic.oup.com]

Hemochromatosis

Hereditary hemochromatosis (HH) is an autosomal-recessive disorder of iron metabolism that most commonly manifests in the fourth or fifth decade of life. [ncbi.nlm.nih.gov]

Alpha-1 antitrypsin (AAT) deficiency and hereditary hemochromatosis are systemic diseases inherited in an autosomal recessive fashion. [ncbi.nlm.nih.gov]

Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism resulting in toxic accumulation of iron in vital organs. [ncbi.nlm.nih.gov]

Familial Hypercholanemia

recessive External references: 1 OMIM reference - No MeSH references No signs/symptoms info available. [csbg.cnb.csic.es]

Heritability: Autosomal recessive inheritance AKA: FHCA, hypercholanemia, familial, hypercholanemia, familial; FHCA, hereditary hypercholanemia Annotation Sufficiency: ? [monarchinitiative.org]

ORPHA:238475 Classification level: Disorder Synonym(s): Hereditary hypercholanemia Prevalence: <1 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Infancy, Neonatal [orpha.net]

Congenital Deafness

Abstract PURPOSE: The goals of our study were to develop a noninvasive prenatal test for autosomal recessive monogenic conditions and to prove its overall feasibility and [ncbi.nlm.nih.gov]

So far, genetic CD has been shown to be passed on in either an autosomal dominant, autosomal recessive or in an X-linked manner. [symptoma.com]

Despite the fact that this condition resembles one reported by Latham and Munro in 1937, it is possible that we might be reporting on a new autosomal recessive syndrome. [ncbi.nlm.nih.gov]

Pallidopyramidal Syndrome

MalaCards based summary : Parkinson Disease 15, Autosomal Recessive Early-Onset, also known as pallidopyramidal syndrome, is related to complex hereditary spastic paraplegia [malacards.org]

Blogs Submit your blog on Parkinson Disease 15, Autosomal Recessive (disorder) to be featured! [novusbio.com]

An important gene associated with Parkinson Disease 15, Autosomal Recessive Early-Onset is FBXO7 (F-Box Protein 7), and among its related pathways/superpathways are Neuroscience [malacards.org]

X-Linked Parkinsonism with Spasticity

Recessive Dopa-Responsive Dystonia, Autosomal Recessive Dystonia, Dopa-Responsive, Autosomal Recessive Parkinsonism, Infantile, Autosomal Recessive Tyrosine Hydroxylase Deficiency [ukgtn.nhs.uk]

UCHL1 Parkinson disease 5, susceptibility to; Spastic paraplegia 79, autosomal recessive VPS35 Parkinson disease 17 VPS13C Parkinson disease 23, autosomal recessive, early [asperbio.com]

[…] most cases, and spreads to other body parts DYT-2 Reserved Autosomal Recessive Primary Autosomal Recessive Early-onset, generalised or segmental primary torsion dystonia DYT [cmdg.org]

Foreign Body in the Eye

This condition is inherited in an autosomal recessive pattern. [monarchinitiative.org]

Learn more about autosomal recessive inheritance. [babysfirsttest.org]

Learn more about autosomal recessive inheritance. Testing Follow-up testing will involve checking your baby’s urine and blood samples for signs of citrullinemia. [thezbfoundation.com]

Unverricht-Lundborg Syndrome

Carriers of an autosomal recessive disease usually do not have any symptoms of the disease. [rarediseases.info.nih.gov]

Unverricht disease, Unverricht syndrome (oon′fĕr-ikt″) [Heinrich Unverricht, Ger. physician, 1853–1912] A rare, fatal disease inherited as an autosomal recessive trait. [medical-dictionary.thefreedictionary.com]

Genetics It carries an autosomal recessive inheritance and is caused due to a mutation in the cystatin B gene (CSTB). [radiopaedia.org]

Retinitis Pigmentosa

The retinal function of non-symptomatic carriers of autosomal recessive RP should be evaluated with care. [ncbi.nlm.nih.gov]

KEYWORDS: RP1; autosomal recessive retinitis pigmentosa; targeted NGS [ncbi.nlm.nih.gov]

Recently, the FAM161A gene was identified as the causative gene for RP28, an autosomal recessive form of RP. [ncbi.nlm.nih.gov]

Progressive Myoclonic Epilepsy Type 3

Neuronal Ceroid Lipofuscinosis  autosomal recessive disease.  characterized by progressive myoclonus with visual failure and accumulation of an autofluorescent lipopigment [slideshare.net]

Genetic mutation found in more than 87% cases in EPM2A gene or the EPM2B also known as NHLRC1 gene and are inherited in an autosomal recessive manner. [banglajol.info]

recessive type 36 ADAT3 Mental retardation, autosomal recessive type 37 ANK3 Mental retardation, autosomal recessive type 38 HERC2 Mental retardation, autosomal recessive [centogene.com]

Lafora Disease

Lafora disease is an autosomal recessive disorder, caused by mutations in one of two known genes: EPM2A and EPM2B. [diki.pl]

Heredity autosomal recessive Test duration 2-3 weeks after arrival of the sample in the lab [shop.labogen.com]

Lafora body disease is a rare neurometabolic disorder of autosomal recessive inheritance. [ncbi.nlm.nih.gov]

Progressive Myoclonic Epilepsy Type 8

[…] osteopetrosis 3 autosomal recessive osteopetrosis 4 autosomal recessive osteopetrosis 5 autosomal recessive osteopetrosis 6 autosomal recessive osteopetrosis 7 autosomal [rgd.mcw.edu]

An autosomal-recessive genetic defect is responsible, which has been tracked down to two genes. [en.wikipedia.org]

Progressive Myoclonic Epilepsy Type 7

[…] pachygyria Autosomal recessive metabolic cerebellar ataxia Autosomal recessive spastic ataxia Autosomal recessive spastic ataxia of Charlevoix-Saguenay Autosomal recessive [se-atlas.de]

Neuronal Ceroid Lipofuscinosis  autosomal recessive disease.  characterized by progressive myoclonus with visual failure and accumulation of an autofluorescent lipopigment [slideshare.net]

Familial Infantile Myoclonic Epilepsy

PURPOSE: To describe the clinical features of a large kindred with familial infantile myoclonic epilepsy (FIME) with autosomal recessive inheritance, and to discuss the nosology [ncbi.nlm.nih.gov]

This family may be the first example of idiopathic epilepsy inherited as an autosomal recessive trait. [onlinelibrary.wiley.com]

Here we describe a large Italian kindred with a familial infantile myoclonic epilepsy (FIME) inherited as an autosomal recessive trait. [onlinelibrary.wiley.com]

Dilated Cardiomyopathy Type 2B

[…] dominant limb-girdle muscular dystrophy type 1D Autosomal recessive centronuclear myopathy Autosomal recessive intermediate Charcot-Marie-Tooth disease type B Autosomal recessive [csbg.cnb.csic.es]

recessive, with axonal neuropathy - SCAN1 (13.76) 6p22.3 * Spinocerebellar ataxia, autosomal recessive 23 - SCAR23 (13.72) 14q32 * Spastic paraplegia 49, autosomal recessive [195.83.227.65]

[…] paraplegia 50, autosomal recessive 612936 602296 Autosomal recessive AP4S1 14q12 Spastic paraplegia 52, autosomal recessive 614067 607243 Autosomal recessive AP5Z1 7p22.1 [mnglabs.com]

Non-Syndromic Ocular Stickler Syndrome Type 1

[…] dominant 13; Deafness, autosomal recessive 53; Fibrochondrogenesis 2; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Otospondylomegaepiphyseal dysplasia, autosomal [asperbio.com]

[…] retinitis pigmentosa + Retinohepatoendocrinologic Syndrome Rhegmatogenous Retinal Detachment, Autosomal Dominant Spondyloocular Syndrome, Autosomal Recessive Stickler Syndrome [rgd.mcw.edu]

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell. 1995;80(3):431-437. [journals.sagepub.com]

Dilated Cardiomyopathy Type 3B

recessive ataxia, Beauce type Autosomal recessive myogenic arthrogryposis multiplex congenita Familial isolated dilated cardiomyopathy Familial retinoblastoma Monosomy 13q14 [csbg.cnb.csic.es]

Please note, SDHA is included due to its association with autosomal recessive mitochondrial complex II deficiency. [invitae.com]

It is caused by genetic mutations through autosomal dominant, autosomal recessive, or X-linked recessive inheritance. [childrenscardiomyopathy.org]

Catecholaminergic Polymorphic Ventricular Tachycardia Type 5

Autosomal recessive inheritance means that both copies of the gene in each cell have mutations. [ghr.nlm.nih.gov]

[…] receptor ( RYR2 ), and a less common autosomal recessive form resulting from mutations in calsequestrin ( CASQ2 ). [cohesionphenomics.com]

CPVT5 inheritance is autosomal recessive. [malacards.org]

Catecholaminergic Polymorphic Ventricular Tachycardia

Autosomal recessive inheritance means that both copies of the gene in each cell have mutations. [cpvt.weebly.com]

Variants in the RYR2 gene can be found in the autosomal dominant form of the disease, whereas for the autosomal recessive form, they can be found in the CASQ2 gene. [icm-mhi.org]

When CPVT is caused by mutations in the CASQ2 gene, the condition has an autosomal recessive pattern of inheritance. [cpvt.weebly.com]

Hereditary Spherocytosis

[…] spherocytosis on repeated blood films, Coombs-negative hemolytic jaundice and normal MCHC and MCV measurements, where SDS-PAGE revealed alpha-spectrin deficiency, a rare autosomal-recessive [ncbi.nlm.nih.gov]

The transmission is autosomal dominant in 75% of cases and autosomal recessive in the remaining 25%. [enerca.org]

Autosomal recessive pattern: Two copies of a mutated gene, one from the mother and one from the father, are needed to develop the disease. [enerca.org]

Hereditary North American Indian Childhood Cirrhosis

recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. [orpha.net]

[…] title=North_American_Indian_childhood_cirrhosis&oldid=825135448" Categories: Autosomal recessive disorders Diseases of liver Ribosomopathy Hidden categories: CS1 maint: uses [en.wikipedia.org]

Search Search for a rare disease Hereditary North American Indian childhood cirrhosis Disease definition Hereditary North American Indian childhood cirrhosis is a severe autosomal [orpha.net]

Hypercholesterolemia

Entry H01918 Disease Name Familial autosomal recessive hypercholesterolemia Supergrp Hyperlipidemia [DS:H01635] Description Autosomal recessive hypercholesterolemia (ARH) [genome.jp]

Previous studies have shown that patients with autosomal recessive hypercholesterolemia (ARH) resulting from mutations in LDLRAP1 gene have a less severe cardiovascular involvement [ncbi.nlm.nih.gov]

Autosomal recessive inheritance means the condition results from two altered copies of the gene in each cell. [ghr.nlm.nih.gov]

Primary Immune Deficiency Disorder

[…] granulomatous disease X-linked or autosomal recessive gp91phox ( CYBB ; X-linked) p22phox, p47phox, p67phox (autosomal recessive) Granulomatous lesions in the lungs, liver [merckmanuals.com]

[…] mechanisms Clinical presentation Treatment Leukemia secondary to CN Conclusion Acknowledgments Chapter 11: B-Cell Defects: From X-linked Recessive to Autosomal Recessive [elsevier.com]

SCID-Types • Main Types: Autosomal recessive (-ve T & B cells) X-linked recessive(+ve B cells) • Other important types: Nezelof Syndrome SCID associated with ADA & PNP [slideshare.net]

Adrenogenital Syndrome

Genetic inheritance Most often autosomal recessive inheritance. Spontaneous mutations are possible. [accesspediatrics.mhmedical.com]

Congenital adrenal hyperplasia (CAH) is a form of adrenal hyperplasia related to a variety of autosomal recessive disorders in adrenal steroidogenesis; characterized by low [radiopaedia.org]

Most often autosomal recessive inheritance. Spontaneous mutations are possible. [accessanesthesiology.mhmedical.com]

Winchester Syndrome

Autosomal recessive mode of inheritance: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex [dovemed.com]

In our country, only 2 male patients (siblings) are diagnosed in Torg-Winchester Syndrome, which is in autosomal recessive and rare diseases group. [remedypublications.com]

recessive trait. [wikiwand.com]

Congenital Dyserythropoietic Anemia

Information analysis and synthesis: Congenital dyserythropoietic anemia type I is an autosomal recessive hereditary disease. [pesquisa.bvsalud.org]

CDA1 is inherited in an autosomal recessive manner, with biallelic pathogenic variants in CDAN1 or C15orf41. [ncbi.nlm.nih.gov]

Congenital dyserythropoietic anemia type I (CDA I) is a rare autosomal recessive disorder with ineffective erythropoiesis, characteristic morphological abnormalities of erythroblasts [ncbi.nlm.nih.gov]

Wolfram Syndrome

Nonetheless, familial studies suggested an autosomal recessive mode of transmission, and recent data demonstrated linkage with markers on the short arm of human chromosome [ncbi.nlm.nih.gov]

Genes Official Gene Symbol OMIM ID CISD2 611507 WFS1 606201 Inheritance Abbreviation Autosomal Dominant AD Autosomal Recessive AR X-Linked XL Mitochondrial MT Related Test [preventiongenetics.com]

Wolfram syndrome - autosomal recessive disorder characterized by juvenile diabetes mellitus and optic atrophy. [medical-dictionary.thefreedictionary.com]

Kostmann Syndrome

Autosomal recessive severe congenital neutropenia (SCN) constitutes a primary immunodeficiency syndrome associated with increased apoptosis in myeloid cells, yet the underlying [ncbi.nlm.nih.gov]

NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE NEUTROPENIA [medlineplus.gov]

Abstract Autosomal recessive severe congenital neutropenia (SCN) 1 constitutes a primary immunodeficiency syndrome associated with increased apoptosis in myeloid cells 2, [doi.org]

MAP is inherited in an autosomal recessive manner. [myriadgenetics.eu]

People with the autosomal recessive type of this disorder have fewer polyps than those with the classic type. [gandhigi.com]

recessive inheritance pattern of MAP, many affected patients have no relatives with colorectal polyps or cancer. 83 Genetic testing is the only way to identify truly at-risk [myriadgenetics.eu]

Hereditary Renal Cell Carcinoma

The severe autosomal recessive forms of this disorder affect fewer than 1 per million newborns. [ghr.nlm.nih.gov]

In the junctional EB, the mode of inheritance is mostly autosomal recessive. [therapeutique-dermatologique.org]

EB can be inherited autosomal recessively or autosomal dominantly; in general, recessive forms tend to be more severe. [molnlycke.com]