Autosomal Recessive Form: Causes & Reasons

Possible Causes for Autosomal Recessive Form

An autosomal recessive form of uncertain etiology (OMIM 240200) has also been identified. [emedicine.medscape.com]

Adrenal hypoplasia congenita, autosomal recessive form (OMIM 240200 ), is the "miniature adult" type of adrenal hypoplasia; the adrenal cortex is composed of a small amount [ncbi.nlm.nih.gov]

Adrenal hypoplasia congenita is a rare inherited disease of adrenal cortex that can occur in two distinct forms: the autosomal recessive miniature adult form and the X-linked [doi.org]

Cutis Laxa

Basically, autosomal dominant forms can be distinguished from autosomal recessive forms, independent of gene systematics. [altmeyers.org]

In general, the autosomal recessive forms of cutis laxa tend to be more severe than the autosomal dominant forms, although some people with autosomal dominant cutis laxa are [medlineplus.gov]

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]

Muscular Dystrophy-Dystroglycanopathy Type C14

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]

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]

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]

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 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]

UniProtKB/Swiss-Prot : 76 Deafness, autosomal recessive, 61: A form of non-syndromic sensorineural hearing loss. [malacards.org]

Abstract More than 50 Percent of prelingual hearing loss is genetic in origin, and of these up to 93 Percent are monogenic autosomal recessive traits. [ncbi.nlm.nih.gov]

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]

Limb-Girdle Muscular Dystrophy Type 2B

Limb girdle muscular dystrophy 2B (LGMD2B) is an autosomal recessive form of limb girdle muscular dystrophy (LGMD). [musculardystrophyuk.org]

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

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

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]

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]

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]

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 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]

Limb-Girdle Muscular Dystrophy Type 1G

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

1C, etc., and the autosomal recessive forms as LGMD2A, 2B, 2C, etc. [mda.org]

[…] dominant or autosomal recessive. [familydiagnosis.com]

Limb-Girdle Muscular Dystrophy Type 2G

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

1C, etc., and the autosomal recessive forms as LGMD2A, 2B, 2C, etc. [mda.org]

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

Muscular Dystrophy-Dystroglycanopathy Type C3

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]

Distal Spinal Muscular Atrophy Type 4

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

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]

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

Limb-Girdle Muscular Dystrophy Type 2Q

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]

1C, etc., and the autosomal recessive forms as LGMD2A, 2B, 2C, etc. [mda.org]

Osteogenesis Imperfecta Type 15

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 [ncbi.nlm.nih.gov]

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]

Background: Osteogenesis imperfecta (OI) type 15 is a rare autosomal recessive form caused by WNT1 mutations. [bone-abstracts.org]

Muscular Dystrophy-Dystroglycanopathy Type C9

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]

recessive limb-girdle muscular dystrophy (LGMD2). ( 10735275 ) Duggan D.J....Hoffman E.P. 1997 18 The seventh form of autosomal recessive limb-girdle muscular dystrophy is [malacards.org]

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]

Osteogenesis Imperfecta Type 13

Martinez-Glez et al. (2012) described osteogenesis imperfecta type XIII, an autosomal recessive form of the disorder characterized by normal teeth, faint blue sclerae, severe [ncbi.nlm.nih.gov]

UniProtKB/Swiss-Prot : 75 Osteogenesis imperfecta 13: An autosomal recessive form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, [malacards.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]

Erb Muscular Dystrophy

[…] muscular dystrophy an autosomal recessive form of muscular dystrophy that appears anywhere from late childhood to middle age; characterized by progressive muscular weakness [seslisozluk.net]

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

Most are adult-onset autosomal dominant forms. Others are autosomal recessive. [icd10data.com]

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 1E

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]

1C, etc., and the autosomal recessive forms as LGMD2A, 2B, 2C, etc. [mda.org]

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 [dx.doi.org]

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 Robinow Syndrome

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

Rib fusions are considered to be characteristic of the autosomal recessive form. [uniprot.org]

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

[…] 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]

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