Autosomal Dominant and Autosomal Recessive Forms Causes & Reasons

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Autosomal Dominant and Autosomal Recessive Forms Symptom Checker: Possible causes include Autosomal-Recessive Robinow Syndrome. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.

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Possible Causes

Autosomal-Recessive Robinow Syndrome

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

In autosomal dominant form of the symptoms are mild, some signs nonexistent. Autosomal recessive inheritance is more pronounced. [health-and-beaty.blogspot.com]

The autosomal recessive form tends to be more severe than the autosomal dominant variant. [dovemed.com]

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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]

autosomal dominant, and autosomal recessive forms and present state of DNA studies. [anesthesiology.pubs.asahq.org]

Autosomal dominant form In the autosomal dominant form, symptoms often appear somewhat later than in the autosomal recessive form. They are also a little milder. [socialstyrelsen.se]

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Cutis Laxa

One autosomal dominant and two autosomal recessive forms have been described, but acquired forms also occur. synonyms Cutis Laxa, Dermatochalasis, Limp Skin UMLS Chalazoderma [dermis.net]

Mutations in the gene encoding fibulin-5 (FBLN5) can cause either autosomal dominant or a more severe autosomal recessive form of cutis laxa. [medicinenet.com]

In general, the autosomal recessive forms of cutis laxa tend to be more severe than the autosomal dominant forms. [ghr.nlm.nih.gov]

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Robinow Syndrome

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

There are two forms of this condition, an autosomal recessive and an autosomal dominant form. [diseaseinfosearch.org]

In autosomal dominant form of the symptoms are mild, some signs nonexistent. Autosomal recessive inheritance is more pronounced. [health-and-beaty.blogspot.com]

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Autosomal Recessive Osteopetrosis Type 7

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

Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and [malacards.org]

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Osteopetrosis

Mutations in other genes are less common causes of autosomal dominant and autosomal recessive forms of the disorder. [ghr.nlm.nih.gov]

A few individuals have been diagnosed with intermediate autosomal osteopetrosis (IAO), a form of the disorder that can have either an autosomal dominant or an autosomal recessive [ghr.nlm.nih.gov]

Autosomal dominant osteopetrosis is the most common form of the disorder, affecting about 1 in 20,000 people. [ghr.nlm.nih.gov]

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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]

Mutations in other genes are less common causes of autosomal dominant and autosomal recessive forms of the disorder. [ghr.nlm.nih.gov]

These conditions can be inherited as autosomal recessive, dominant or X-linked traits with the most severe forms being autosomal recessive. [jclpca.org]

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Dyskeratosis Congenita

X-linked recessive, autosomal dominant and autosomal recessive forms of the disease are recognized. [europeanmedical.info]

In most cases, the inheritance pattern is X-linked recessive, while autosomal dominant and autosomal recessive forms have been reported. [genome.jp]

Men are more affected than women and X-linked recessive, autosomal dominant and autosomal recessive forms of the disease are recognised. [scielo.br]

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Kenny-Caffey Syndrome Type 1

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

The autosomal dominant form of KCS (KCS type 2 [KCS2]) is distinguished from the autosomal recessive form of KCS (KCS type 1 [KCS1]), which is caused by mutations of the tubulin‐folding [ingentaconnect.com]

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

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Cystitis

Autosomal dominant forms of osteopetrosis are more benign (see OPTA1, 607634). [ncbi.nlm.nih.gov]

A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3; 259730) is caused by mutation in the CA2 gene (611492) on chromosome 8q21. [ncbi.nlm.nih.gov]

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Hereditary Spastic Paraplegia

Inheritance may be autosomal dominant, autosomal recessive or rarely X-linked, but autosomal dominant inheritance is most commonly associated with pure forms of the disease [ncbi.nlm.nih.gov]

The pattern of inheritance of the disease can be autosomal dominant, autosomal recessive, or X-linked recessive. [ncbi.nlm.nih.gov]

Genetically, HSPs are divided into autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) forms. [ncbi.nlm.nih.gov]

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Autosomal Dominant Chondrodysplasia Punctata

The Conradi-Hunermann form of the disorder is transmitted by an autosomal-dominant gene and the rhizomelic form by an autosomal-recessive gene. chondrodysplasia punctata A [medical-dictionary.thefreedictionary.com]

X-linked dominant CPD (CPXD), also known as Conradi-Hunermann syndrome, is the most well-characterized form. See 118650 for a possible autosomal dominant form of CPD. [humpath.com]

The nonrhizomelic form, also known as Conradi–Hünermann syndrome, can be inherited as an autosomal dominant, X-linked recessive or dominant condition. [mhmedical.com]

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Ovarian Cyst

dominant but autosomal recessive forms are also reported. [6] Histopathology shows gross hyperkeratosis with alternating ortho- and parakeratosis. [idoj.in]

It is classified as pachyonychia congenita type 1 (Jadassohn-Lewandowsky) and pachyonychia congenital type 2(Jackson-Lawler) syndromes. [5] Common mode of inheritance is autosomal [idoj.in]

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Muscular Dystrophy-Dystroglycanopathy Type C7

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

Thity-one loci have been identified so far, eight autosomal domi- nant and 23 autosomal recessive. [archive.org]

ABCC6 16p13.11 Pseudoxanthoma elasticum 264800 603234 Autosomal recessive ABCC6 16p13.11 Pseudoxanthoma elasticum, forme fruste 177850 603234 Autosomal dominant ABCC6 16p13.11 [mnglabs.com]

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Hereditary Hypophosphatemic Rickets with Hypercalciuria

X-linked recessive, autosomal dominant, and autosomal recessive forms of the disorder are much rarer. The different inheritance patterns are described below. [findzebra.com]

X-linked recessive, autosomal dominant, and autosomal recessive forms of the disorder are much rarer.Another rare type of the disorder is known as hereditary hypophosphatemic [icdlist.com]

[…] as X - linked recessive, autosomal dominant form, autosomal recessive and other forms of the disease are much less frequent. [ivami.com]

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Familial Isolated Hypoparathyroidism

[…] in both autosomal dominant and autosomal recessive forms of the disorder. 3, 4 Mature PTH is generated by cleavage of the signal peptide from the prepro-PTH, followed by [jmg.bmj.com]

FIH exist both as autosomal dominant and recessive forms of hypoparathyroidism. [pathnsitu.com]

FIH exist both as autosomal dominant and recessive forms of hypoparathyroidism. Sequence similarities Belongs to the parathyroid hormone family. [abcam.com]

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Muscular Dystrophy-Dystroglycanopathy Type C14

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

Autosomal dominant and autosomal recessive forms of LGMD affect both sexes equally. The age of onset varies among the different mutations. [emedicine.medscape.com]

AUTOSOMAL DOMINANT LGMD The autosomal dominant forms of LGMD occur less frequently than the autosomal recessive forms and are more likely to occur later during life. [rarediseases.org]

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Autosomal Dominant Spastic Paraplegia Type 9A

Inheritance is mostly autosomal dominant but autosomal recessive forms have been described as well. [thieme-connect.com]

[5, 12, 13, 14, 15, 16, 17, 18, 19] Most cases of pure HSP are autosomal dominant, whereas complicated forms tend to be autosomal recessive. [emedicine.medscape.com]

[…] for dominant and X-linked forms of HSP will certainly be even greater in autosomal recessive forms. [jamanetwork.com]

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Diffuse Palmoplantar Keratoderma

[…] in both autosomal dominant and autosomal recessive forms, but only the recessive forms have a clear association with dilated cardiomyopathy. [1] : 513 The skin disease presents [like2do.com]

Autosomal recessive and dominant, X-linked, and acquired forms have all been described. [1] : 505 [2] : 211 [3] Types [ edit ] Clinically, three distinct patterns of palmoplantar [en.wikipedia.org]

Unna-Thost disease and Vorner disease: These are autosomal dominant forms. [merckmanuals.com]

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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]

In general, the autosomal recessive forms of cutis laxa tend to be more severe than the autosomal dominant forms. [ghr.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]

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Limb-Girdle Muscular Dystrophy Type 1G

A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. [connects.catalyst.harvard.edu]

6 • • • Muscular Dystrophies, Limb-Girdle: A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. [familydiagnosis.com]

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Limb-Girdle Muscular Dystrophy Type 2E

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

Autosomal dominant and autosomal recessive forms of LGMD affect both sexes equally. The age of onset varies among the different mutations. [emedicine.medscape.com]

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Distal Renal Tubular Acidosis

Both autosomal dominant and autosomal recessive forms have been described, the latter is also associated with sensorineural hearing loss. [ncbi.nlm.nih.gov]

INTRODUCTION: Mutations of the anion exchanger 1 (AE1) gene encoding the kidney anion exchanger 1 can result in autosomal dominant or autosomal recessive form of distal renal [ncbi.nlm.nih.gov]

Renal tubular acidosis, distal, autosomal dominant and Rental tubular acidosis, distal, autosomal recessive 179800 611590 SLC4A1/ AE1 SLC4A1 gene encodes the AE1 glycoprotein [genetics.ouhsc.edu]

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Autosomal Dominant Osteopetrosis Type 2

Inheritance can be autosomal recessive, autosomal dominant, or X-linked recessive with the most severe forms being autosomal recessive Management of Autosomal Dominant Osteopetrosis [dovemed.com]

Mutations in other genes are less common causes of autosomal dominant and autosomal recessive forms of the disorder. [ghr.nlm.nih.gov]

There are also autosomal recessive forms, which may be mild [MIM*259710], severe [MIM*259700], or lethal [MIM*259720], and sometimes involve a renal tubular defect [MIM*259730 [medical-dictionary.thefreedictionary.com]

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Dermatitis

Autosomal recessive and autosomal dominant forms of nephrogenic DI from AQP2 mutations have been reported. [2] [emedicine.medscape.com]

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Hyperuricemia

recessive and autosomal dominant forms of hereditary chronic tubulointerstitial disease [ Hildebrandt et al 1992 ]. [ncbi.nlm.nih.gov]

Nephronophthisis is now used to refer to a group of conditions with autosomal recessive inheritance that present in childhood with chronic kidney failure. [ncbi.nlm.nih.gov]

[…] associated kidney disease) [ Zivná et al 2009 ] Note: (1) The term "nephronophthisis/medullary cystic kidney disease (NPH/MCKD) complex" was used in the past to refer to both autosomal [ncbi.nlm.nih.gov]

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Polycystic Kidney Disease

Types of PKD There are two forms of PKD – autosomal dominant PKD and autosomal recessive PKD. [froedtert.com]

The autosomal dominant form of the disease is much more common than the autosomal recessive form. [ghr.nlm.nih.gov]

POLYCYSTIC KIDNEY DISEASE AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE PLEIOTROPIC FORMS OF POLYCYSTIC KIDNEY DISEASE SUMMARY disclosure statement literature cited RELATED [doi.org]

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Neuronal Ceroid Lipofuscinosis Type 10

Most forms are inherited in an autosomal recessive manner; however, autosomal dominant inheritance has been reported in one adult-onset form ( neuronal ceroid lipofuscinosis [rarediseases.info.nih.gov]

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Autosomal Recessive Limb-Girdle Muscular Dystrophy

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

The primary distinction is between the autosomal dominant (LGMD1) and the autosomal recessive forms (LGMD2). [genome.jp]

Autosomal dominant and autosomal recessive forms of LGMD affect both sexes equally. The age of onset varies among the different mutations. [emedicine.medscape.com]

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Familial Hypophosphatemia

X-linked recessive, autosomal dominant, and autosomal recessive forms of the disorder are much rarer. [ghr.nlm.nih.gov]

Inactivating PHEX mutations trigger X-linked hypophosphatemia (XLH), leading to increased FGF23 concentrations, whereas autosomal dominant forms (ADHR) arise due to direct [symptoma.com]

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