Caused by Mutation in the Very Low Density Lipoprotein Receptor Gene & Cerebellar Hypoplasia: Causes & Reasons

Neu starten

Ad Html Headline Ad Text Headline

Ad Label Ad Html Description Ad Text Description

Determine your risk of now. Restart test

Caution! In case of an emergency:

Seek emergency care

Caution! In case of an emergency: Seek emergency care

Hi, I'm Symptoma.

For full functionality of this site it is necessary to enable JavaScript.

How to enable JavaScript?

Patient File

Sex unknown, Age unknown

Reported Symptoms

Caused by Mutation in the Very Low Density Lipoprotein Receptor Gene, Cerebellar Hypoplasia,

Negated

None

Unsure

None

Possible Causes

Dysequilibrium Syndrome

[…] in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. 61 24 56 6 Moheb LA...Kuss AW 18043714 2008 3 Mutations in the [malacards.org]

From Wikipedia, the free encyclopedia Jump to navigation Jump to search VLDLR-associated cerebellar hypoplasia Other names Dysequilibrium syndrome, DES ; Nonprogressive cerebellar [en.wikipedia.org]

cerebellar ataxia associated with cerebellar hypoplasia. [ncbi.nlm.nih.gov]

Show info

Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

Mutation of the very low-density lipoprotein receptor gene, which functions within the Reelin pathway (together with RELN, ApoER2, and DAB1 ) is the cause of an autosomal [ajnr.org]

[…] ataxia, nonprogressive, with mental retardation Cerebellar ataxia, SNX14 related Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion Cerebral [qlinics.com]

hypoplasia Lissencephaly with cerebellar hypoplasia type A Lissencephaly with cerebellar hypoplasia type B Lissencephaly with cerebellar hypoplasia type C Lissencephaly with [se-atlas.de]

Show info

X-Linked Spinocerebellar Ataxia Type 5

Mutation of the very low-density lipoprotein receptor gene, which functions within the Reelin pathway (together with RELN, ApoER2, and DAB1 ) is the cause of an autosomal [ajnr.org]

This is the first example of the genetic mapping of a pure congenital cerebellar hypoplasia syndrome. [ncbi.nlm.nih.gov]

hypoplasia Andrea Poretti and Eugen Boltshauser (Zurich, Switzerland) Pontine tegmental cap dysplasia Andrea Poretti (Zurich, Switzerland) Non-progressive cerebellar ataxia [deutscher-apotheker-verlag.de]

Show info

Adult-Onset Autosomal Recessive Cerebellar Ataxia

Mutation of the very low-density lipoprotein receptor gene, which functions within the Reelin pathway (together with RELN, ApoER2, and DAB1 ) is the cause of an autosomal [ajnr.org]

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2; SCAR2, Cerebellar Granular Cell Hypoplasia and Mental Retardation, Congenital, Cpd 3 Annotation Sufficiency: ? [monarchinitiative.org]

Congenital ataxias are due to cerebellar hypoplasia or aplasia. [jpgmonline.com]

Show info

Autosomal Recessive Spinocerebellar Ataxia 18

Mutation of the very low-density lipoprotein receptor gene, which functions within the Reelin pathway (together with RELN, ApoER2, and DAB1 ) is the cause of an autosomal [ajnr.org]

QT SYNDROME 4 CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED Ataxin-1 (N76/3, N76/8) SPINOCEREBELLAR ATAXIA 1 CASK (K56A/50) MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR [neuromab.ucdavis.edu]

The patients that we describe seem to have progressive cerebellar atrophy rather than malformative cerebellar hypoplasia. [ojrd.biomedcentral.com]

Show info

Early-Onset Cerebellar Ataxia

Mutation of the very low-density lipoprotein receptor gene, which functions within the Reelin pathway (together with RELN, ApoER2, and DAB1 ) is the cause of an autosomal [ajnr.org]

Abs R, Van Vleymen E, Parizel PM, Van Acker K, Martin M, Martin JJ (1990) Congenital cerebellar hypoplasia and hypogonadotropic hypogonadism. [link.springer.com]

hypoplasia and quadrupedal locomotion in a consanguineous kindred. [genome.jp]

Show info

Cerebellar Ataxia

Mutation of the very low-density lipoprotein receptor gene, which functions within the Reelin pathway (together with RELN, ApoER2, and DAB1) is the cause of an autosomal recessive [ajnr.org]

Cerebellar hypoplasia on imaging is variable but is not predictive of the degree of ataxia or cognitive impairment. [jamanetwork.com]

hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia. [orpha.net]

Show info

Cerebellar Hypoplasia and Atrophy

Turkmen S, Hoffmann K, Demirhan O: Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene. [karger.com]

The term "amyotrophic cerebellar hypoplasia" (ACH) is a convenient designation for the syndrome. [ncbi.nlm.nih.gov]

[…] such as cerebellar hypoplasia and atrophy. [ncbi.nlm.nih.gov]

Show info

Dialysis Disequilibrium Syndrome

[…] recessive cerebellar hypoplasia with cerebral gyral simplification. 24 56 6 Boycott KM...Parboosingh JS 16080122 2005 5 Missense mutation in the ATPase, aminophospholipid [malacards.org]

[…] of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. 24 56 6 Boycott KM...Parboosingh JS [malacards.org]

Show info

Hereditary Cerebellar Degeneration

Mutation of the very low-density lipoprotein receptor gene, which functions within the Reelin pathway (together with RELN, ApoER2, and DAB1 ) is the cause of an autosomal [ajnr.org]

hypoplasia and distinctive facial appearance XL 28 42 PAX6 Aniridia, cerebellar ataxia, and mental retardation (Gillespie syndrome), Keratitis, Coloboma, ocular, Cataract [blueprintgenetics.com]

Localized cerebellar hypoplasia. Fetal coronal T2 image ( A ) shows a left-sided cerebellar hematoma ( arrow ). [ajnr.org]

Show info

Cerebellar Ataxia Type Cayman

Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene. [scielo.br]

[…] hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia Cayman cerebellar [wikidata.org]

[…] and intention tremor), associated with cerebellar hypoplasia. [ncbi.nlm.nih.gov]

Show info

Complex Cortical Dysplasia with other Brain Malformations Type 7

However, some genes are related to autosomal recessive MCD phenotypes, including the genes encoding reelin ( RELN ), very-low-density lipoprotein receptor ( VLDLR ), tubulin [bmcresnotes.biomedcentral.com]

Lissencephaly either classic (6/8) or with cerebellar hypoplasia (2/8) are corpus callosum agenesis was the second group. None were microcephalic. [ashg.org]

[…] or agenesis, abnormal basal ganglia and cerebellar hypoplasia. [ncbi.nlm.nih.gov]

Show info

Lissencephaly 4 with Microcephaly

Diffuse pachygyria with cerebellar hypoplasia: A milder form of microlissencephaly or a new genetic syndrome? [scinapse.io]

There was hypoplasia of bilateral cerebellar hemisphere. [webmedcentral.com]

Show info

Autosomal Dominant Myoglobinuria

Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene. [scielo.br]

Cerebellar ataxia, SNX14 related SNX14 Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion type 1 VLDLR Cerebral amyloid angiopathy CST3 Cerebral [centogene.com]

hypoplasia; LGMD2V GAA / Acid maltase (late-onset Pompe variant) Late childhood to early adulthood Variable Variable Rigid spine; distal contractures; scapular wining Ptosis [now.aapmr.org]

Show info

Cerebro-Costo-Mandibular Syndrome

We first reported mutations in the gene LRP5 as the cause of OPPG. [childrenshospital.org]

hypoplasia Lenz-Majewski hyperostotic dysplasia Metaphyseal dysplasia (Braun Tinschert type) Pyle disease Osteogenesis imperfecta and decreased bone density group This includes [emedicine.medscape.com]

LRP5 (Low density lipoprotein receptor-related protein 5) is a cell surface receptor, which we think is important for improving the function of bone-forming cells (osteoblasts [childrenshospital.org]

Show info

Cerebellar Ataxia-Hypogonadism Syndrome

[…] ataxia and hypogonadotropic hypogonadism: evidence for hypothalamic LHRH deficiency. 61 56 Berciano J...Vaquero A 6813427 1982 6 Congenital cerebellar hypoplasia and hypogonadotropic [malacards.org]

hypoplasia; Mental retardation, with or without nystagmus CCDC88C Spinocerebellar ataxia 40; Hydrocephalus, nonsyndromic, autosomal recessive CLCN2 Leukoencephalopathy with [asperbio.com]

Show info

Osteogenesis Imperfecta Congenita - Microcephaly - Cataracts Syndrome

[…] in the gene encoding low density lipoprotein receptor-related protein-5 (LRP5), with loss of LRP5 function and decreased osteoblast activity. [iofbonehealth.org]

Catecholaminergic polymorphic ventricular tachycar Caveolinopathy CDK9 SYNDROME Central core myopathy Cerebellar hypoplasia Charcot Marie Tooh 2A Charcot Marie Tooh X-linked [igenomix.us]

hypoplasia syndrome Enlarged parietal foramina Exostoses-anetodermia-brachydactyly type E syndrome FGFR2-related bent bone dysplasia Familial expansile osteolysis Familial [se-atlas.de]

Show info

Autosomal Recessive Osteopetrosis Type 5

Osteoporosis-pseudoglioma syndrome, autosomal recessive, (OPPG) is a very rare disease caused by homozygous or compound heterozygous mutation in the gene encoding low density [iofbonehealth.org]

1.8 Cerebellar Hypoplasia.- 1.9 Cephaloceles.- 1.9.1 Sphenoidal Cephaloceles.- 1.9.2 Frontoethmoidal Cephaloceles.- 1.9.3 Occipital Cephaloceles.- 1.9.4 Parietal Cephaloceles [academicbooks.dk]

Disorders (UCD) Uromodulin-Associated Kidney Disease Usher Syndrome V VACTERL Association Van der Woude Syndrome Vitelliform Macular Dystrophy Vitiligo VLDLR-Associated Cerebellar [corp.credoreference.com]

Show info

⚕ Symptoma®️ is a digital health assistant but no replacement for the opinion and judgement of medical professionals. By using this website you fully understand and accept that it shall not be used as a diagnostic system for decision-making. It absolutely must not be used to obtain, replace or overrule a clinical diagnosis by a healthcare professional. It is always for the medical professional to make the final diagnosis. The medical information provided on this website is of a general nature and can not substitute for the advice of a medical professional (for example, a qualified doctor or physician)! Information from the internet could and should NOT be solely used to offer or render a medical opinion or otherwise engage in the practice of medicine.