Symptoma

X-Linked Syndromic Intellectual Disability Type Nascimento

X-Linked Syndromic Mental Retardation Type 30

Acronym MRXSN Synonyms Mental retardation X-linked syndromic 30 MRXS30 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

All affected male individuals share the typical clinical phenotype, all carrier females are unaffected and presented with a completely skewed X inactivation in blood. We conclude that 1.) [ncbi.nlm.nih.gov]

FBrf0222196 ] Disease Summary Information Parent Disease Summary: intellectual disability, X-linked, syndromic Symptoms and phenotype Mental retardation is characterized by impairments in intellectual functioning and adaptive behavior; symptoms must be present [flybase.org]

We identified a series of patients with X-linked intellectual disability presenting mutations in the Rad6a (Ube2a) gene, which encodes for an E2 ubiquitin-conjugating enzyme. [semanticscholar.org]

Discussion In this study, we present eight new patients from five families with X-linked ID type Nascimento. [ojrd.biomedcentral.com]

  • Nail Abnormality

    MRXSN features include dysmorphic facies, hirsutism, skin and nails abnormalities, obesity, speech anomalies and seizures. [uniprot.org]

    MRXSN features include dysmorphic facies, hirsutism, skin and nails abnormalities, obesity, speech anomalies and seizures. Sequence Similarities: Belongs to the ubiquitin-conjugating enzyme family. [antibodies.com]

    MRXSN features include dysmorphic facies, hirsutism, skin and nails abnormalities, obesity, speech anomalies and seizures. {ECO:0000269 PubMed:16909393, ECO:0000269 PubMed:20412111}. [genecards.org]

  • Macrocephaly

    […] retardation, Nascimento type, X-linked Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Almond-shaped palpebral fissure Broad face Broad neck Downturned corners of mouth Enophthalmos Low posterior hairline Macrocephaly [familydiagnosis.com]

    […] hallux ; Broad neck ; Deeply set eye ; Depressed nasal bridge ; Downturned corners of mouth ; Dry skin ; Echolalia ; Hirsutism ; Hypointensity of cerebral white matter on MRI ; Increased body weight ; Intellectual disability ; Low posterior hairline ; Macrocephaly [mousephenotype.org]

    Abnormality of the clavicle Abnormality of the antihelix Intellectual disability, mild Hypertonia Anteverted nares Narrow nose Short neck High palate Bruxism Intellectual disability, profound Long palpebral fissure Severe short stature Language impairment Macrocephaly [mendelian.co]

    […] supraorbital ridges, deep-set, almond-shaped eyes, upslanting palpebral fissures, hypertelorism, depressed nasal bridge, prominent columella and hypoplastic alae nasi, macrostomia with downturned corners of the mouth), and a large head circumference or macrocephaly [ojrd.biomedcentral.com]

  • Hirsutism

    MRXSN features include dysmorphic facies, hirsutism, skin and nails abnormalities, obesity, speech anomalies and seizures. [uniprot.org]

    Classification genetic, neurological Phenotypes Abnormal hair whorl ; Aggressive behavior ; Almond-shaped palpebral fissure ; Broad face ; Broad hallux ; Broad neck ; Deeply set eye ; Depressed nasal bridge ; Downturned corners of mouth ; Dry skin ; Echolalia ; Hirsutism [mousephenotype.org]

    […] mutations in UBE2A (MIM *312180), is characterized by craniofacial dysmorphism (synophrys, prominent supraorbital ridges, deep-set, almond-shaped eyes, depressed nasal bridge, prominent columella, hypoplastic alae nasi, and macrostomia), skin anomalies (hirsutism [ncbi.nlm.nih.gov]

    UBE2A in a 4-year-old and 10-month-old boy with mental retardation and various other characteristics inherited from his mother; for example, marked developmental delay, synophrys, ocular hypertelorism, esotropia, low nasal bridge, marked generalized hirsutism [unboundmedicine.com]

    MRXSN features include dysmorphic facies, hirsutism, skin and nails abnormalities, obesity, speech anomalies and seizures. Sequence Similarities: Belongs to the ubiquitin-conjugating enzyme family. [antibodies.com]

  • Dry Skin

    30; MRXS30 Classification genetic, neurological Phenotypes Abnormal hair whorl ; Aggressive behavior ; Almond-shaped palpebral fissure ; Broad face ; Broad hallux ; Broad neck ; Deeply set eye ; Depressed nasal bridge ; Downturned corners of mouth ; Dry [mousephenotype.org]

    There was dry skin and generalized hirsutism. [ojrd.biomedcentral.com]

  • Hypertrichosis

    He had hypertelorism, a flat nasal bridge, synophrys, proximally inserted thumbs (see Figure 1 I), mild onychodystrophy of the feet (Figure 1 N) and a lumbar hypertrichosis. [ojrd.biomedcentral.com]

  • Almond-Shaped Eyes

    Abstract X-linked intellectual disability type Nascimento (MIM #300860), caused by mutations in UBE2A (MIM *312180), is characterized by craniofacial dysmorphism (synophrys, prominent supraorbital ridges, deep-set, almond-shaped eyes, depressed nasal [ncbi.nlm.nih.gov]

    […] type Nascimento (MIM #300860), due to mutations in X-linked intellectual disability type Nascimento (MIM #300860), due to mutations in (MIM *312180), is normally seen as a craniofacial dysmorphism (synophrys, prominent supraorbital ridges, deep-set, almond-shaped [eyesoftheelephants.com]

    The facial phenotype is characterized by a broad face, flat midface, almond shaped eyes, ocular hypertelorism, low nasal bridge, prominent columella of the nose, hypoplastic alae nasi, and macrostomia. [ojrd.biomedcentral.com]

    2013 Português Relevância na Pesquisa 86.1% X-linked intellectual disability type Nascimento (MIM #300860), caused by mutations in UBE2A (MIM *312180), is characterized by craniofacial dysmorphism (synophrys, prominent supraorbital ridges, deep-set, almond-shaped [biblioteca.portalbolsasdeestudo.com.br]

  • Enophthalmos

    Symptoms of Syndromic mental retardation, Nascimento type, X-linked Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Almond-shaped palpebral fissure Broad face Broad neck Downturned corners of mouth Enophthalmos [familydiagnosis.com]

  • Aggressive Behavior

    Name Mental Retardation, X-Linked, Syndromic, Nascimento Type Synonyms MENTAL RETARDATION, X-LINKED, SYNDROMIC 30; MRXS30 Classification genetic, neurological Phenotypes Abnormal hair whorl ; Aggressive behavior ; Almond-shaped palpebral fissure ; Broad [mousephenotype.org]

    behavior Microcephaly Generalized hypotonia Wide mouth Autosomal dominant inheritance Hyperactivity Strabismus Downslanted palpebral fissures Infantile onset Neonatal hypotonia Short stature Deeply set eye Rare Symptoms - Less than 30% cases Thin upper [mendelian.co]

  • Withdrawn

    […] abnormality of skin ; Seizures ; Short foot ; Short neck ; Spotty hypopigmentation ; Synophrys ; Thin vermilion border ; Upslanted palpebral fissure ; Wide intermamillary distance ; Wide mouth ; X-linked recessive inheritance Associated Genes UBE2A (Withdrawn [mousephenotype.org]

  • Short Neck

    neck ; Spotty hypopigmentation ; Synophrys ; Thin vermilion border ; Upslanted palpebral fissure ; Wide intermamillary distance ; Wide mouth ; X-linked recessive inheritance Associated Genes UBE2A (Withdrawn symbols: HHR6A, RAD6A, UBC2 ) Mouse Orthologs [mousephenotype.org]

    Scapular winging Long fingers Preauricular pit Preauricular skin tag Abnormal renal morphology Delayed skeletal maturation Abnormality of the clavicle Abnormality of the antihelix Intellectual disability, mild Hypertonia Anteverted nares Narrow nose Short [mendelian.co]

  • Wide Face

    face, synophrys, prominent supraorbital ridges, deep-set, almond-shaped eyes, upslanting palpebral fissures, hypertelorism, depressed nasal bridge, prominent columella and hypoplastic alae nasi, macrostomia with downturned corners of the mouth), and [ojrd.biomedcentral.com]

  • Downturned Corners of the Mouth

    corners of the mouth), and a large head circumference or macrocephaly, 3.) skin abnormalities (generalized hirsutism, dry skin, hair whorls, onychodystrophy especially of the feet, and myxedematous appearance), and 4.) urogenital abnormalities (micropenis [ojrd.biomedcentral.com]

  • Downturned Corners of the Mouth

    corners of the mouth), and a large head circumference or macrocephaly, 3.) skin abnormalities (generalized hirsutism, dry skin, hair whorls, onychodystrophy especially of the feet, and myxedematous appearance), and 4.) urogenital abnormalities (micropenis [ojrd.biomedcentral.com]

  • Seizure

    MRXSN features include dysmorphic facies, hirsutism, skin and nails abnormalities, obesity, speech anomalies and seizures. [uniprot.org]

    […] weight ; Intellectual disability ; Low posterior hairline ; Macrocephaly ; Malar flattening ; Micropenis ; Midface retrusion ; Nail dysplasia ; Nail dystrophy ; Pes planus ; Poor speech ; Prominent supraorbital ridges ; Regional abnormality of skin ; Seizures [mousephenotype.org]

    […] depressed nasal bridge, prominent columella, hypoplastic alae nasi, and macrostomia), skin anomalies (hirsutism, myxedematous appearance, onychodystrophy), micropenis, moderate to severe intellectual disability (ID), motor delay, impaired/absent speech, and seizures [ncbi.nlm.nih.gov]

    Benign Familial Infantile, 2 Convulsions, Benign Familial Infantile, 2 BFIS2 BFIC2 605751 Genetic Test Registry Seizures, Benign Familial Infantile, 3 Convulsions, Benign Familial Infantile, 3 Seizures, Benign Familial Neonatal-Infantile BFIS3 BFIC3 [ukgtn.nhs.uk]

    After a cluster of seizures, some patients with genetic epilepsies can have prolonged episodes of regression with normal EEG findings. This is in contrast to the exemplary patients with recurrent relentless seizures that I have mentioned above. [epilepsygenetics.net]

  • Echolalia

    Classification genetic, neurological Phenotypes Abnormal hair whorl ; Aggressive behavior ; Almond-shaped palpebral fissure ; Broad face ; Broad hallux ; Broad neck ; Deeply set eye ; Depressed nasal bridge ; Downturned corners of mouth ; Dry skin ; Echolalia [mousephenotype.org]

More Symptoms of Syndromic mental retardation, Nascimento type, X-linked » • • • Back to: « Mental retardation Genetics of Syndromic mental retardation, Nascimento type, X-linked Treatments See also the following treatment articles: Treatments for Intellectual [familydiagnosis.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

We present a patient with 3M syndrome caused by the compound heterozygous mutations p.Trp68* and p.Gly1452Asp in CUL7, the latter of which is novel, who exhibited a good body height response to growth hormone treatment. [readbyqxmd.com]

Migration in the Mammalian Brain Zhang, Chi Fonte: Harvard University Publicador: Harvard University Tipo: Thesis or Dissertation Português Relevância na Pesquisa 106.25% Intellectual disability is a prevalent developmental disorder for which no effective treatments [biblioteca.portalbolsasdeestudo.com.br]

Interaktionspartner Human Ubiquitin-Conjugating Enzyme E2A (ube2a) Interaktionspartner RAD6 is upregulated in response to chemotherapy and significantly correlated with expression of ovarian cancer (OC) stem cell signaling genes ALDH1A1 and SOX2 and poor prognosis [antikoerper-online.de]

Chronic hepatitis Sample Type Sample Size Etiology Experiment Type Expression Level Fold Change (Tumor/Non-tumor) PubMed -NA- -NA- -NA- -NA- -NA- -NA- -NA- -NA- Cell Line Sample Type Sample Size Etiology Experiment Type Expression Level Fold Change [livercancerdatabase.in]

[…] cell}, year {2013}, volume {50 6}, pages { 831-43 } } Dominik M Haddad, Sven Vilain, 11 authors Patrik Verstreken Published in Molecular cell 2013 DOI: 10.1016/j.molcel.2013.04.012 The prevalence of intellectual disability is around 3%; however, the etiology [semanticscholar.org]

It has made it possible to transform a group of rare neurological diseases into genetically identified etiologies, which has spurred a huge activity of patient initiatives and medication trials in rare epilepsies. [epilepsygenetics.net]

A genetic etiology is reported to account for as many as 60% of cases (McLaren and Bryson. 1987. PubMed ID: 3322329; Kaufman et al. 2010. PubMed ID: 21124998; Fieremans et al. 2016. PubMed ID: 27159028). [preventiongenetics.com]

Please prevent freeze thaw cycles. Concentration information loading... Stability and Storage Shipped at 4 C. [abcam.com]

Disruption of pre-TCR expression accelerates lymphomagenesis in E2A-deficient mice. signaling through Notch modulates the turnover of E2A proteins absence of mHR6A in oocytes prevents development beyond the embryonic two-cell stage Ubiquitin-Conjugating [antikoerper-online.de]

RAD6 promotes DNA repair and stem cell signaling in ovarian cancer and is a promising therapeutic target to prevent and treat acquired chemoresistance. [genscript.com]

At the same time, it has improved the clinical diagnosis of XLID and allowed for carrier detection and prevention strategies through gamete donation, prenatal diagnosis, and genetic counseling. [biblioteca.portalbolsasdeestudo.com.br]