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Autosomal Dominant Mental Retardation 28

Helsmoortel-van der Aa Syndrome


Presentation

  • Acronym HVDAS Synonyms Mental retardation, autosomal dominant 28 MRD28 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • This karyotype, present in between 1-2 per thousand male births, is variable in its presentation, and frequently passes unnoticed; the usual clinical presentation is with hypogonadism or infertility.[diapedia.org]
  • In 33 patients, a pre- or perinatal cause was found, and 20 patients presented a pre- or perinatal infection of the CNS.[ncbi.nlm.nih.gov]
  • List of Genetic Loci Contained within and Flanking the Deletions Locus Description Family G Family H RPS6KA6 Ribosomal protein S6 kinase, 90kDa, polypeptide 6 Present Present CXorf43 Chromosome X open reading frame 43 Present Present FAM121A Family with[iovs.arvojournals.org]
  • Carter , Sally Kelly Academic Press , 24 apr. 2014 - 290 pagini Clinical Genetics: Problems in Diagnosis and Counseling presents the proceedings of the Twelfth Annual New York State Health Department Birth Defects Symposium.[books.google.ro]
Epilepsy
  • Brain abnormalities, behavioral problems, sleep disturbance, epilepsy, hypotonia, visual problems, congenital heart defects, gastrointestinal problems, short stature, and hormonal deficiencies are common comorbidities.[ncbi.nlm.nih.gov]
  • An additional patient with ASD, intellectual disability, and epilepsy was found to have a de novo splice-site variant in KAT6A in Millan et al., 2016; however, this patient also had a sister with ID and autism, and the presence of the KAT6A variant in[gene.sfari.org]
  • […] deficiency Autosomal recessive ataxia, Beauce type Autosomal recessive cerebellar ataxia Autosomal recessive cerebellar ataxia due to a DNA repair defect Autosomal recessive cerebellar ataxia with late-onset spasticity Autosomal recessive cerebellar ataxia-epilepsy-intellectual[se-atlas.de]
  • However, further research is needed to establish a syndromic association between gingival fibromatosis, MR, and epilepsy which is done based on genetic evaluation and linkage studies. 1. Pappachan B, Narayan J, Nayak A.[contempclindent.org]
  • ID, epilepsy, and calcifications in the brain are seen, as are tumors. Epileptic seizures often begin as infantile spasms, which should alert the physician to look for other symptoms of this disorder.[emedicine.medscape.com]
Short Stature
  • Brain abnormalities, behavioral problems, sleep disturbance, epilepsy, hypotonia, visual problems, congenital heart defects, gastrointestinal problems, short stature, and hormonal deficiencies are common comorbidities.[ncbi.nlm.nih.gov]
  • Additional MRD26 features include autism, short stature, microcephaly, cerebral palsy, and facial dysmorphisms. MalaCards based summary : Mental Retardation, Autosomal Dominant 26, is also known as mrd26 .[malacards.org]
  • Clinical features include short stature, low hairline, low-set ears, and webbing of the neck. Gonadal dysfunction resulting in amenorrhoea and sterility is common.[diapedia.org]
  • Severely affected individuals usually have short stature, mental disability, supravalvular aortic stenosis, hypercalcemia, elfin facies, and a distinctive personality often described as “cocktail party” personality.[genedx.com]
  • stature, webbed neck, fibrous ovaries, sterility, wide chest, sex females- XXX normal appearance menstrual abnormalities sex xyy males taller than average What is a Mendelian single gene disorder alteration or mutation of single gene, most are familial[studyblue.com]
Short Stature
  • Brain abnormalities, behavioral problems, sleep disturbance, epilepsy, hypotonia, visual problems, congenital heart defects, gastrointestinal problems, short stature, and hormonal deficiencies are common comorbidities.[ncbi.nlm.nih.gov]
  • Additional MRD26 features include autism, short stature, microcephaly, cerebral palsy, and facial dysmorphisms. MalaCards based summary : Mental Retardation, Autosomal Dominant 26, is also known as mrd26 .[malacards.org]
  • Clinical features include short stature, low hairline, low-set ears, and webbing of the neck. Gonadal dysfunction resulting in amenorrhoea and sterility is common.[diapedia.org]
  • Severely affected individuals usually have short stature, mental disability, supravalvular aortic stenosis, hypercalcemia, elfin facies, and a distinctive personality often described as “cocktail party” personality.[genedx.com]
  • stature, webbed neck, fibrous ovaries, sterility, wide chest, sex females- XXX normal appearance menstrual abnormalities sex xyy males taller than average What is a Mendelian single gene disorder alteration or mutation of single gene, most are familial[studyblue.com]
Antipsychotic Agent
  • Citing Literature Number of times cited according to CrossRef: 5 Se Hyun Kim, Soyoung Park, Hyun Sook Yu, Kyung Hee Ko, Hong Geun Park and Yong Sik Kim, The antipsychotic agent clozapine induces autophagy via the AMPK-ULK1-Beclin1 signaling pathway in[doi.org]
Long Arm
  • This gene is located on the long arm of chromosome 20 (20q13.13). The ANDP gene is involved in the autophagy pathway. Its precise role in this process is under active investigation. This is made by sequencing the ADNP gene. Treatment is symptomatic.[en.wikipedia.org]
  • […] t or f: abnormal chromosome structure is insignficant false; can range from insignificant to fatal the long arm of the chromosome is referred to as short arm of the chromosome what are 4 ways that chromosomes could be rearranged 1. translocation 2. inversion[studyblue.com]
Abnormal Behavior
  • Brain abnormalities, behavioral problems, sleep disturbance, epilepsy, hypotonia, visual problems, congenital heart defects, gastrointestinal problems, short stature, and hormonal deficiencies are common comorbidities.[ncbi.nlm.nih.gov]
Broad Nasal Bridge
  • Definition A disorder characterized by intellectual disability, autism spectrum disorder, and dysmorphic facial features including prominent forehead, high hairline, downslanting palpebral fissures, notched eyelids, broad nasal bridge, thin upper lip,[uniprot.org]
Frontal Bossing
  • bossing Cardiac or ovarian fibroma Medulloblastoma Lymphomesenteric cysts Congenital malformation: cleft lip and/or palate, polydactyly, congenital ocular anomaly (cataract, microphthalmos, coloboma) *Diagnosis requires two major / one major and two[reviewofophthalmology.com]
Hyperactivity
  • Behavioral symptoms have been described in these individuals, ie, hyperactivity and social withdrawal in approximately 50% and depression in approximately 25%.[emedicine.medscape.com]
Sleep Disturbance
  • Brain abnormalities, behavioral problems, sleep disturbance, epilepsy, hypotonia, visual problems, congenital heart defects, gastrointestinal problems, short stature, and hormonal deficiencies are common comorbidities.[ncbi.nlm.nih.gov]
Delayed Speech and Language Development
  • Trujillano D, et al. (2016) No Delayed speech and language development, motor del 8 Support Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.[gene.sfari.org]
Slurred Speech
  • SCA6 SCA-6 is an autosomal dominant progressive cerebellar ataxia characterized by slurred speech, changes in eye movements, and lack of coordination in gait and extremities.[ataxiacenter.umn.edu]
Poor Coordination
  • SCA8 SCA-8 is a slowly progressive ataxia resulting in poor coordination of limbs, especially lower extremities, and poor coordination of gait and speech.[ataxiacenter.umn.edu]

Workup

MRI Shows Cerebellar Atrophy
  • MRI shows cerebellar atrophy of the vermis and hemispheres with sparing of brainstem. Mild iron overload is noted in several cases, most severe in red nucleus and pallidum. [ 1 ] COMMENTARY.[pediatricneurologybriefs.com]

Treatment

  • Treatment is symptomatic. This may include speech, occupational, and physical therapy and specialized learning programs depending on individual needs. Treatment of neuropsychiatric features may also be needed.[en.wikipedia.org]
  • 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]
  • Treatment and prognosis Manage the presenting manifestations of the disease: surgical correction of imperforate anus treatment of hearing loss early in the disease course hemodialysis and renal transplant for ESRD surgical correction of congenital cardiac[radiopaedia.org]
  • Walz et al . [ 11 ] examined the effect of treatment with 5 mg/day of the mTOR inhibitor, everolimus, for 2 years in 433 participants with ADPKD and CKD stage II or III.[academic.oup.com]
  • The treatment of all types of hereditary keratoderma is difficult.[ijdvl.com]

Prognosis

  • Treatment and prognosis Manage the presenting manifestations of the disease: surgical correction of imperforate anus treatment of hearing loss early in the disease course hemodialysis and renal transplant for ESRD surgical correction of congenital cardiac[radiopaedia.org]
  • Oral retinoid are effective, especially in some hereditary PPKs. [4] the prognosis is good as long as medications are used; patients may have a normal life span.[ijdvl.com]
  • […] of hematopoietic tissue bone marrow reduction due to toxicant, radiation, immuno injury decrease in RBC, WBC, and plateletes is referred to as pancytopenia is acquired through viral infection, mycobacteria, pregnancy what is important to have for the prognosis[studyblue.com]
  • Churchill DN, Bear JC, Morgan J, Payne RH, McManamon PJ, Gault MH: Prognosis of adult onset polycystic kidney disease re-evaluated. Kidney Int 1984;26:190–193.[karger.com]
  • When it is connected with fetal developmental deviations, the prognosis depends on the infant's general condition.[emedicine.medscape.com]

Etiology

  • The etiological study was based on a clinical genetic approach with special attention to dysmorphology and neurological findings.[ncbi.nlm.nih.gov]
  • The text contains chapters devoted to the description of restriction enzyme site detection and prenatal diagnosis of hemoglobinopathy; counseling for mental retardation of unknown etiology, for idiopathic dysmorphic syndromes, and for psychiatric disorders[books.google.ro]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Background: An etiologic association between the somatic multiple mtDNA deletions in adPEO and clinical manifestations other than the myopathy has so far not been demonstrated.[n.neurology.org]
  • Spinocerebellar ataxia type 7 Spinocerebellar ataxia type 8 Spinocerebellar ataxia with axonal neuropathy type 1 Spinocerebellar ataxia with axonal neuropathy type 2 Spinocerebellar ataxia-dysmorphism syndrome Sporadic adult-onset ataxia of unknown etiology[se-atlas.de]

Epidemiology

  • The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations.[books.google.ro]
Sex distribution
Age distribution

Pathophysiology

  • One of the most important cellular processes associated with ADNP is the autophagy pathway, recently discovered by us as a key player in the pathophysiology of schizophrenia.[doi.org]
  • (See Pathophysiology CKD 5D. Nephrol Dial Transplant (Supplement 2) 2012; 27: ii511–ii516.)[academic.oup.com]
  • ., Regulation and pathophysiological implications of UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) as the key enzyme of sialic acid biosynthesis, Biol Chem., 2009, 390, 591-599. PubMed Google Scholar [58] Rafiq M. A., Kuss A.[degruyter.com]

Prevention

  • Increasingly, a lifelong low-phenylalanine diet is recommended to prevent later deterioration in cognitive functions.[emedicine.medscape.com]
  • […] senescence does your immune sysyem prevent to spread of metastasis ___ spread is more predictable than blood what is the importance of angiogenesis late stage of metastatis that allows tumors to grow 2mm ___ is the location and pattern of spread that[studyblue.com]
  • Non syndromic gingival fibromatosis in a mild mental retardation child 1 Department of Pedodontics and Preventive Dentistry, Panineeya Institute of Dental Sciences and Hospital, Dilsuknagar, Hyderabad, Andhra Pradesh, India 2 Department of Oral and Maxillofacial[contempclindent.org]
  • In order to prevent the latter, one needs to act on the former, i.e. current belief by experts in the field is that (1) retardation of cyst growth will ultimately improve the loss of glomerular filtration rate, and (2) cyst volume is an ideal surrogate[karger.com]
  • In 2010, two key randomized, placebo-controlled trials were published testing the hypothesis that mTOR inhibition would prevent or retard ADPKD disease progression.[academic.oup.com]

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