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]

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]

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]

West’s son had infantile spasms that eventually resolved or whether he had a genetic epilepsy that presented with Infantile Spasms. [epilepsygenetics.net]

• Epilepsy

  His son did not only have epilepsy, he had a condition that both resulted in epilepsy and developmental regression. [epilepsygenetics.net]

  Epilepsy, Focal, With Speech Disorder And With Or Without Mental Retardation Aphasia, Acquired, With Epilepsy FESD 245570 Genetic Test Registry Epilepsy, Nocturnal Frontal Lobe, 1 ENFL1 600513 Genetic Test Registry Epilepsy, Nocturnal Frontal Lobe, 3 [ukgtn.nhs.uk]

  mental retardation, and speech dyspraxia SSR4 Congenital disorders of glycosylation, type Iy SYN1 Epilepsy, X-linked, with variable learning disabilities and behavior disorders SYP Mental retardation, X-linked 96 SYTL5 Intellectual disability TAF1 Mental [preventiongenetics.com]

  He had a maternal uncle with ID, epilepsy and similar dysmorphic features ( Patient 5 ). There was a female first cousin of the maternal grandmother with ID of unknown aetiology. [ojrd.biomedcentral.com]

  Mutations of the X-linked protein PHF6 cause the Börjeson-Forssman-Lehmann syndrome (BFLS) that is characterized by intellectual disability and epilepsy. However, the biological role of PHF6 relevant to BFLS pathogenesis has remained unknown. [biblioteca.portalbolsasdeestudo.com.br]

• Developmental Delay

  Top matches: Medium match JOUBERT SYNDROME 32; JBTS32 JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. [mendelian.co]

  delay, synophrys, ocular hypertelorism, esotropia, low nasal bridge, marked generalized hirsutism and seizure. [unboundmedicine.com]

  Learn about child developmental delays: Causes, Symptoms, and Therapies. Don't wait years for a diagnosis. Act now and save valuable time. Start Here! [fdna.health]

  Delay HCFC1 Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) HDAC8 Cornelia de Lange syndrome 5 HMGB3 Microphthalmia, syndromic 13 HNRNPH2 Mental retardation, X-linked, Bain type HPRT1 Lesch-Nyhan syndrome HSD17B10 [preventiongenetics.com]

  Delay Epileptic Encephalopathy, Early Infantile, 10 MCSZ EIEE10 613402 Genetic Test Registry Mitochondrial DNA Depletion Syndrome 4A (Alpers Type) Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis Alpers Progressive Infantile [ukgtn.nhs.uk]

• 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]

  […] palpebral fissure, Aggressive behavior, Low posterior hairline, Abnormal hair whorl, Increased body weight, Micropenis, Intellectual disability, Seizure, Poor speech, Pes planus, Prominent supraorbital ridges, Short neck, Wide mouth, Thin vermilion border, Macrocephaly [fdna.health]

  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]

• Long Toes

  […] neck Cryptorchidism Cleft palate Sensorineural hearing impairment Unilateral facial palsy Inappropriate laughter Long toe Fair hair Hip dislocation Small hand Hirsutism Atresia of the external auditory canal Abnormal dermatoglyphics Full cheeks Long [mendelian.co]

• Hirsutism

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

  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]

  The skin was dry and there was generalized hirsutism. Eight additional patients from five families were reported by Czeschik et al., (2013). [fdna.health]

• 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]

  They suggest that the typical facial features are: a broad face, midface hypoplasia, almond shaped eyes, hypertelorism, depressed nasal bridge, prominent columella, hypoplastic alae nasi, synophris (difficult in fair-haired people, but still there) and [fdna.health]

  […] 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]

• Widely Spaced Nipples

  Other physical features of the syndrome include excessive hair growth over the body, widely spaced nipples, dry skin or spots on the skin that are hyperpigmented, a micropenis, obesity and seizures. [fdna.health]

  spaced nipples, renal malformations). [ojrd.biomedcentral.com]

• Hypertelorism

  […] array, we detected a 0.4 Mb novel deletion at Xq24 that included 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 [unboundmedicine.com]

  Dysmorphic features were high forehead, ocular hypertelorism, depressed nasal bridge, wide mouth, prominent philtrum, thin upper lip, large ears, short and broad neck, and feet abnormalities. He also had strabismus. [fdna.health]

  Related symptoms: Intellectual disability Seizures Global developmental delay Hypertelorism Ataxia SOURCES: DOID MONDO UMLS OMIM More info about JOUBERT SYNDROME 32; JBTS32 Too many results? We can help you with your rare disease diagnosis. [mendelian.co]

  Photograph of the patient’s face showing strabismus, high forehead, hypertelorism, large ears, prominent philtrum and thin upper lip. [nature.com]

  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]

• Short Neck

  […] 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 symbols: HHR6A, RAD6A, UBC2 ) [mousephenotype.org]

  Unique facial features of the syndrome include a large head, deep-set eyes, large ears and a wide mouth with downward turned lip corners, a short neck, and a low hairline. [fdna.health]

  neck High palate Bruxism Intellectual disability, profound Long palpebral fissure Severe short stature Language impairment Macrocephaly Elongated superior cerebellar peduncle Large for gestational age Molar tooth sign on MRI Oculomotor apraxia Tall stature [mendelian.co]

• Downturned Corners of the Mouth

  He presented with a broad face, synophrys, long eyelashes, upslanting palpebral fissures, short nose, macrostomia and down-turned corners of the mouth (see Figure 1 D), short and highly arched feet and myxoedematous appearance of the skin. [ojrd.biomedcentral.com]

• Wide Face

  (wide 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) [ojrd.biomedcentral.com]

• Wide Neck

  The main facial features were, a wide mouth, thick eyebrows with synophris, a short, wide neck with low posterior hairline. The face was said to be ""myxodematous"". Stature was small, and the patients were overweight. [fdna.health]

• 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]

  […] vermilion border, Macrocephaly, Midface retrusion, Upslanted palpebral fissure, Synophrys, X-linked recessive inheritance, Regional abnormality of skin, Spotty hypopigmentation, Wide intermamillary distance, Malar flattening, Deeply set eye, Nail dystrophy, Echolalia [fdna.health]

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]

[…] the innate-immune response, neuroinflammation and amyloidogenesis in Alzheimer’s and prion disease, age-related macular degeneration and in other neurological diseases was supported through an unrestricted grant to the LSU Eye Center from Research to Prevent [mdpi.com]