Autosomal-recessive-form: Causes & Reasons

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Possible Causes for autosomal recessive form

Cutis Laxa

Genetic forms of cutis laxa include at least three forms of recessive disease, an X-linked form also termed occipital horn syndrome and an autosomal dominant form. [ncbi.nlm.nih.gov]

In the absence of mutational screening, with history and clinical findings our case is likely to be Type I autosomal recessive form of congenital cutis laxa. [ncbi.nlm.nih.gov]

The autosomal recessive form of type II cutis laxa (ARCL II) is characterized by the appearance of redundant, inelastic skin with wrinkling, an aged look and additional variable [ncbi.nlm.nih.gov]

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Gene products have been identified for five genes responsible for autosomal recessive forms of the disorder. [ncbi.nlm.nih.gov]

[…] dystrophy Etymology: AS, lim, limb, gyrdel a form of muscular dystrophy transmitted as an autosomal-recessive trait. [medical-dictionary.thefreedictionary.com]

Overview Limb-girdle muscular dystrophy type 2C: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of [checkorphan.org]

Autosomal Recessive Cutis Laxa Type 1A

The disease is inherited most commonly in a severe autosomal recessive form, or as a relatively benign, autosomal dominant form. [unboundmedicine.com]

There are 4 hereditary forms: Autosomal dominant X-linked recessive 2 autosomal recessive The autosomal recessive forms tend to be more common, and one of them causes potentially [merckmanuals.com]

Limb-Girdle Muscular Dystrophy Type 2E

Overview An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the beta-sarcoglycan gene. [checkorphan.org]

Sixteen loci have been so far identified, six autosomal dominant and ten autosomal recessive. [beta-sarcoglicanopathy.org]

Most forms of LGMD are autosomal recessive although some rare forms are autosomal dominant. [encyclopedia.com]

Limb-Girdle Muscular Dystrophy Type 2A

The autosomal recessive forms (LGMD2) constitute a genetically heterogeneous group with LGMD2A mapping to chromosome 15q15.1-q21.1. [ncbi.nlm.nih.gov]

Calpain3 is a calcium-dependent intracellular protease involved in an autosomal recessive form of muscular dystrophy known as limb-girdle muscular dystrophy type 2A. [uniprot.org]

At least 5 forms of autosomal dominant limb-girdle MD (known as type 1) and 17 forms of autosomal recessive limb-girdle MD (known as type 2) have been identified. [tellmegen.com]

Catecholaminergic Polymorphic Ventricular Tachycardia

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]

CASQ2- a calcium binding protein located in the sarcoplasmic reticulum – has also been implicated in a severe and uncommon autosomal recessive form of CPVT, [Postma 2002, [cidg.org.nz]

Lafora Disease

Lafora disease is a fatal, autosomal recessive form of progressive myoclonus epilepsy. [ncbi.nlm.nih.gov]

Lafora disease is an autosomal recessive form of progressive myoclonic epilepsy caused by defects in the EPM2A and EPM2B genes. [ncbi.nlm.nih.gov]

Abstract Lafora disease is an autosomal recessive form of progressive myoclonus epilepsy with no effective therapy. [ncbi.nlm.nih.gov]

Distal Spinal Muscular Atrophy Type 4

The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.. [dial.uclouvain.be]

DSMA here refers to the autosomal recessive forms of HMN. See also H00455 Spinal muscular atrophy (SMA). [genome.jp]

autosomal recessive forms, and early adult-onset autosomal recessive forms. [mayomedicallaboratories.com]

Limb-Girdle Muscular Dystrophy Type 2L

[…] dystrophy Etymology: AS, lim, limb, gyrdel a form of muscular dystrophy transmitted as an autosomal-recessive trait. [medical-dictionary.thefreedictionary.com]

At least 5 forms of autosomal dominant limb-girdle MD (known as type 1) and 17 forms of autosomal recessive limb-girdle MD (known as type 2) have been identified. [tellmegen.com]

Limb girdle muscular dystrophy 2B (LGMD2B) is another autosomal recessive form of muscular dystrophy resulting from mutation of the dysferlin gene (DYSF TGFβ-signaling in [paperity.org]

Autosomal Recessive Spastic Paraplegia Type 32

Here, we performed a genome-wide linkage analysis on a consanguineous family presenting an autosomal recessive form of HSP associated with mild mental retardation, brainstem [ncbi.nlm.nih.gov]

Limb-Girdle Muscular Dystrophy Type 2C

Overview Limb-girdle muscular dystrophy type 2C: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of [checkorphan.org]

Most forms of LGMD are autosomal recessive although some rare forms are autosomal dominant. [encyclopedia.com]

AUTOSOMAL RECESSIVE LGMD At least 17 different forms of autosomal recessive LGMD have been identified. [rarediseases.org]

Autosomal Recessive Centronuclear Myopathy

Whereas the X-linked recessive form is well documented, information is scantier on the autosomal dominant and autosomal recessive forms. [checkorphan.org]

The autosomal recessive (AR) form presents from birth to childhood, followed by a mild progression of muscle weakness. [ncbi.nlm.nih.gov]

Autosomal recessive form The autosomal recessive form of centronuclear myopathy usually presents for the first time in childhood. [socialstyrelsen.se]

Muscular Dystrophy-Dystroglycanopathy Type C4

LGMDs are divided into 8 autosomal-dominant (LGMD1) 1 and 25 autosomal-recessive (LGMD2) forms ( omim.org/phenotypicSeries/PS253600 ). [ng.neurology.org]

Overview An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the beta-sarcoglycan gene. [checkorphan.org]

[…] dominant form Congenital myotonia, autosomal recessive form Conotruncal heart malformations Cornelia de Lange syndrome 1 CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED Coxa [pentacorelab.hu]

Autosomal-Recessive Robinow Syndrome

[…] dominant and autosomal recessive forms exist. [radiopaedia.org]

form (autosomal dominant Robinow syndrome, see this term) and a more severe autosomal recessive form (autosomal recessive Robinow syndrome, see this term). [orpha.net]

The autosomal recessive form of the disorder has been linked to the ROR2 gene on position 9 of the long arm of chromosome 9. [radiopaedia.org]

Robinow Syndrome

This observation supports the view that severe vertebral anomalies are a feature of the autosomal-recessive form of Robinow syndrome. [ncbi.nlm.nih.gov]

The gene for the autosomal recessive form was identified as the ROR2 gene on chromosome 9q22. [ncbi.nlm.nih.gov]

The etiology of dominant Robinow syndrome is unknown; however, the phenotypically more severe autosomal recessive form of Robinow syndrome has been associated with mutations [ncbi.nlm.nih.gov]

Osteogenesis Imperfecta Type 15

UniProtKB/Swiss-Prot : 75 Osteogenesis imperfecta 15: An autosomal recessive form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, [malacards.org]

In addition to genes associated with the autosomal dominant and autosomal recessive forms of OI, the panels also contain genes for disorders included in the read more Connective [ctgt.net]

Keupp et al. (2013) and Pyott et al. (2013) described osteogenesis imperfecta type XV, an autosomal recessive form of the disorder characterized by early-onset recurrent fractures [malacards.org]

Muscular Dystrophy-Dystroglycanopathy Type C14

Most forms of LGMD are autosomal recessive although some rare forms are autosomal dominant. [encyclopedia.com]

LGMD2I is an autosomal recessive form of limb-girdle muscular dystrophy (LGMD). [lgmd2i.com]

AUTOSOMAL RECESSIVE LGMD At least 17 different forms of autosomal recessive LGMD have been identified. [rarediseases.org]

Popliteal Pterygium Syndrome

We report on an additional patient with the severe autosomal recessive form of the popliteal pterygium syndrome. [ncbi.nlm.nih.gov]

The autosomal-recessive form of popliteal pterygium syndrome, also known as Bartsocas-Papas syndrome, is a rare, but frequently lethal disorder characterized by marked popliteal [ncbi.nlm.nih.gov]

Hereditary Spastic Paraplegia

Troyer syndrome (MIM#275900) is an autosomal recessive form of complicated hereditary spastic paraplegia. [ncbi.nlm.nih.gov]

Using samples from a large Omani family we recently mapped a gene for a novel autosomal recessive form of HSP (SPG35) in which the spastic paraplegia was associated with intellectual [ncbi.nlm.nih.gov]

In autosomal recessive forms, mutations in the recently identified SPG11 gene seem to account for a majority of the complex forms of the disease with atrophy of the corpus [doi.org]

Hereditary Hypophosphatemic Rickets with Hypercalciuria

Defects in SLC34A3 are the cause of hereditary hypophosphatemic rickets with hypercalciuria (HHRH; MIM:241530), an autosomal recessive form of hypophosphatemia characterised [reactome.org]

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is an autosomal recessive form that is characterized by reduced renal phosphate reabsorption, hypophosphatemia [ncbi.nlm.nih.gov]

Format Definition Autosomal recessive form of hypophosphatemia characterized by reduced renal phosphate reabsorption and rickets. [uniprot.org]

Kenny-Caffey Syndrome Type 1

[…] dominant and autosomal recessive forms exist. [medical-dictionary.thefreedictionary.com]

recessive form of Kenny-Caffey syndrome, a disorder characterized by impaired skeletal development with small and dense bones, short stature, and primary hypoparathyroidism [malacards.org]

[…] dominant and autosomal recessive forms exist, caused by mutation in the gene encoding tubulin-specific chaperone E on 1q. [medical-dictionary.thefreedictionary.com]

Limb-Girdle Muscular Dystrophy Type 2G

Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families. [ncbi.nlm.nih.gov]

AUTOSOMAL RECESSIVE LGMD At least 17 different forms of autosomal recessive LGMD have been identified. [rarediseases.org]

Reference work entry DOI: 10.1007/978-3-540-29676-8_2615 Synonyms Telethoninopathy Definition and Characteristics Autosomal recessive, relatively mild form of progressive [link.springer.com]

Autosomal Recessive Deafness 42

At least 50% of the reported cases are hereditary and among these, autosomal recessive deafness (DFNB) is the most frequent and severe form of deafness. [cags.org.ae]

The non-syndromic forms of hearing loss are collectively referred to as DFN for the X-linked forms, DFNA for the autosomal dominant forms and DFNB for autosomal recessive [ayubmed.edu.pk]

can also cause autosomal recessive forms of the condition. [ghr.nlm.nih.gov]

Congenital Scoliosis due to Bony Malformation

We recently identified an autosomal recessive form of brachyolmia that is caused by loss-of-function mutations of PAPSS2, the gene encoding PAPS (3'-phosphoadenosine 5'-phosphosulfate [ncbi.nlm.nih.gov]

Type 1 brachyolmia includes the Hobaek and Toledo (BCYM1B; {271630}) forms, which are inherited in an autosomal recessive fashion. [diseaseinfosearch.org]

The Maroteaux type of brachyolmia is an autosomal recessive form in which there is rounding of the anterior and posterior vertebral borders, with less elongation on lateral [malacards.org]

Autosomal Recessive Osteopetrosis Type 7

Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence [uniprot.org]

Inheritance can be autosomal recessive, autosomal dominant, or X-linked recessive with the most severe forms being autosomal recessive. [malacards.org]

UniProtKB/Swiss-Prot : 76 Osteopetrosis, autosomal recessive 7: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone [malacards.org]

Hidrotic Ectodermal Dysplasia

[…] disorder affecting predominantly the males. [2] In the present communication AED as autosomal recessive form is reported, which is very rare occurrence. [ijdvl.com]

recessive form 224900 and autosomal dominant form 129490) Etiology X-linked hypohidrotic ectodermal dysplasia is caused by mutation in the gene encoding ectodysplasin-A [humpath.com]

The investigators will utilize these markers to address the question of the existence and frequency of a proposed clinically indistinguishable autosomal recessive form of [grantome.com]

Autosomal Recessive Osteopetrosis Type 6

Inheritance can be autosomal recessive, autosomal dominant, or X-linked recessive with the most severe forms being autosomal recessive. [malacards.org]

UniProtKB/Swiss-Prot : 72 Osteopetrosis, autosomal recessive 6: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone [malacards.org]

Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence [genecards.org]

Muscular Dystrophy-Dystroglycanopathy Type C7

Thity-one loci have been identified so far, eight autosomal dominant and 23 autosomal recessive. [ncbi.nlm.nih.gov]

Autosomal recessive LGMD The autosomal recessive forms (LGMD2) are much more common, having a cumulative prevalence of 1:15,000 (2) with some differences among countries, [archive.org]

]: A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness with childhood onset, resulting in gait abnormalities and scapular winging. [genecards.org]

Osteopetrosis

Two main forms of osteopetrosis are recognized, a severe autosomal recessive form (MIM 259700) with an incidence of approximately 1 in 250,000 births and a mild autosomal [ncbi.nlm.nih.gov]

[…] dominant form and 1:200,000 live births for the autosomal recessive form. [accessanesthesiology.mhmedical.com]

The autosomal recessive form presents in the infantile period (also known as malignant infantile osteopetrosis--MIOP), and is characterized by fractures, short stature, hepatosplenomegaly [ncbi.nlm.nih.gov]

Limb-Girdle Muscular Dystrophy Type 2J

Most forms of LGMD are autosomal recessive although some rare forms are autosomal dominant. [encyclopedia.com]

AUTOSOMAL RECESSIVE LGMD At least 17 different forms of autosomal recessive LGMD have been identified. [rarediseases.org]

LGMD2I is an autosomal recessive form of limb-girdle muscular dystrophy (LGMD). [lgmd2i.com]