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Microcephalic Primordial Dwarfism due to ZNF335 Deficiency

Microcephalic Primordial Dwarfism Type Walsh


Presentation

  • This condition is not always pathological and may correct itself as the patient matures; however, it may also present as a birth defect in multiple syndromes.[ncbi.nlm.nih.gov]
  • The presentation of MA is highly variable: it may be associated with other neurological diseases; clinically presents on a spectrum from asymptomatic to seizures or focal deficits; radiologically presents with multifocal, tumor-like, or cystic lesions[pubfacts.com]
  • We present detailed clinical findings in 12 unrelated individuals with MFDM; these 12 individuals compose the largest reported cohort to date.[worldwidescience.org]
  • Human genomes (the complete set of genes or genetic material present in a cell or organism) consist of 3 million DNA base pairs. They contain both protein-coding DNA genes and noncoding DNA.[dna.universeofatoms.com]
  • All the information presented here about the ZNF335 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM.[mendelian.co]
Weakness
  • Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54) Delayed myelination MedGen UID: 224820 • Concept ID: C1277241 • Finding Delayed myelination.[ncbi.nlm.nih.gov]
  • Myopathy Hyperreflexia Optic atrophy Cerebral cortical atrophy Intellectual disability Hypoplasia of the pons Severe global developmental delay Cerebellar atrophy Hypertonia Encephalopathy Myoclonus Clonus Rare Symptoms - Less than 30% cases Muscle weakness[mendelian.co]
  • […] characteristics) of people who have Russell–Silver syndrome are inadequate catch-up growth in first 2 years, body asymmetry, lack of appetite, low-set posteriorly rotated ears, clinodactly (inward curving) of the 5th finger, webbed toes, non-descended testicles, weak[en.wikipedia.org]
  • Microcephaly SIN3A Microcephaly, Primary Autosomal Recessive, 7 STIL Microsatellite Instability TGFBR2 Migraine Disorder TGFBR2 Mitochondrial Encephalomyopathies SCO2 Motor Neuron Disease VIM Motor Skills Disorders FGFR2 Muir-Torre Syndrome MSH2 Muscle Weakness[selfdecode.com]
  • […] polymorphic, 1, 604772 CASQ2 Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 CALM1 Ventricular tachycardia, catecholaminergic polymorphic, 4, 614916 -3 TRDN Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness[gsdseq.ir]
Small Head
  • Primary microcephaly-10 (MCPH10) is an autosomal recessive disorder characterized by extremely small head size (-9 SD) at birth and death usually by 1 year of age.[ncbi.nlm.nih.gov]
  • MCPH10 is characterized by extremely small head size and death usually by 1 year of age. Neuropathologic examination shows severe loss of neurons as well as neuronal loss of polarity and abnormal dendritic maturation. {ECO:0000269 PubMed:23178126}.[genecards.org]
  • head size (-9 SD) at birth and death usually by 1 year of age.[mendelian.co]
  • MCPH10 is characterized by extremely small head size and death usually by 1 year of age. Neuropathologic examination shows severe loss of neurons as well as neuronal loss of polarity and abnormal dendritic maturation.[uniprot.org]
  • MCPH10 is characterized by CC extremely small head size and death usually by 1 year of age. CC Neuropathologic examination shows severe loss of neurons as well CC as neuronal loss of polarity and abnormal dendritic maturation.[genome.jp]
Muscle Weakness
  • Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54) Delayed myelination MedGen UID: 224820 • Concept ID: C1277241 • Finding Delayed myelination.[ncbi.nlm.nih.gov]
  • EMG: neuropathic changes Tongue fasciculations Dysarthria Degeneration of anterior horn cells Abnormal anterior horn cell morphology Basal ganglia gliosis Neuronal loss in basal ganglia Intercostal muscle weakness Ptosis Motor delay Impaired smooth pursuit[mendelian.co]
  • PCNT Microcephaly SIN3A Microcephaly, Primary Autosomal Recessive, 7 STIL Microsatellite Instability TGFBR2 Migraine Disorder TGFBR2 Mitochondrial Encephalomyopathies SCO2 Motor Neuron Disease VIM Motor Skills Disorders FGFR2 Muir-Torre Syndrome MSH2 Muscle[selfdecode.com]
  • weakness, 615441 GNAI2 Ventricular tachycardia, idiopathic, 192605 PUF60 Verheij syndrome, 615583 HOXD10 Vertical talus, congenital, 192950 ROBO2 Vesicoureteral reflux 2, 610878 SOX17 Vesicoureteral reflux 3, 613674 TNXB Vesicoureteral reflux 8,615963[gsdseq.ir]
Paresis
  • Charcot-Marie-Tooth Disease, type 2, axonal, autosomal recessive with vocal cord paresis NGS of 10 gene panel: C12orf65, DNAJB2, GDAP1, GDAP1L1, HADHB, IGHMBP2, LMNA, LRSAM1, MED25, TRIM2.[pentacorelab.hu]
  • ,axonal,type 2F,606595 GDAP1 Charcot-Marie-Tooth disease,axonal,type 2K,607831 HSPB8 Charcot-Marie-Tooth disease,axonal,type 2L,608673 IGHMBP2 Charcot-Marie-Tooth disease,axonal,type 2S,616155 GDAP1 Charcot-Marie-Tooth disease,axonal,with vocal cord paresis[gsdseq.ir]
  • Autosomal dominant GCK 7p13 Diabetes mellitus, noninsulin-dependent, late onset 125853 138079 Autosomal dominant GCSH 16q23.2 Glycine encephalopathy 605899 238330 Autosomal recessive GDAP1 8q21.11 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis[mnglabs.com]
  • GDAP1 G:606598 GR-Bell Charcot-Marie-Tooth disease, axonal, type 2K, 607831 (3) GDAP1 G:606598 GR-Bell Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 (3) GDAP1 G:606598 GR-Bell Charcot-Marie-Tooth disease, recessive intermediate,[usegalaxy.org]
Hyperreflexia
  • Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54) Delayed myelination MedGen UID: 224820 • Concept ID: C1277241 • Finding Delayed myelination.[ncbi.nlm.nih.gov]
  • Related symptoms: Autosomal recessive inheritance Generalized hypotonia Nystagmus Spasticity Hyperreflexia SOURCES: MESH GARD UMLS OMIM MONDO More info about AICARDI-GOUTIERES SYNDROME 3; AGS3 Top 5 symptoms//phenotypes associated to Microcephaly and[mendelian.co]
  • PCH3 ( OMIM ) is characterized by hypotonia, hyperreflexia, microcephaly, optic atrophy, and seizures. PCH4 ( OMIM ) is characterized by hypertonia, joint contractures, olivopontocerebellar hypoplasia, and early death.[mendelian.co]
  • The studies detected microcephaly with diffuse brain malformations and calcifications, ventriculomegaly, optic nerve hypoplasia, macular atrophy, cataracts, impaired visual and hearing function, arthrogryposis, spasticity, hyperreflexia, irritability,[worldwidescience.org]

Workup

Gliosis
  • Gliosis MedGen UID: 4899 • Concept ID: C0017639 • Pathologic Function Gliosis is the focal proliferation of glial cells in the central nervous system.[ncbi.nlm.nih.gov]
  • Diseases related with Microcephaly and Gliosis In the following list you will find some of the most common rare diseases related to Microcephaly and Gliosis that can help you solving undiagnosed cases.[mendelian.co]
  • 30% and 50% cases Sloping forehead Commonly - More than 50% cases Brain atrophy Not very common - Between 30% and 50% cases Abnormal cerebellum morphology Commonly - More than 50% cases Delayed myelination Not very common - Between 30% and 50% cases Gliosis[mendelian.co]
  • […] atrophy Hyperreflexia Progressive microcephaly Cognitive impairment Abnormality of the cerebral white matter Cerebral calcification Brain atrophy Short stature Hearing impairment Growth delay Cerebral atrophy Delayed speech and language development Clonus Gliosis[mendelian.co]
  • Diseases BMPR1A Fetal Death PDGFRA Fetal Growth Retardation NOS3 Fibrosis ANGPT1 Fractures, Bone TGFBR2 Gastrointestinal Stromal Tumors PDGFRA Genital Diseases, Male AR Glaucoma 1, Open Angle, A LMX1B Glaucoma, Primary Open Angle FOXC1 Gliosarcoma VEGFA Gliosis[selfdecode.com]

Treatment

  • Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines.[orpha.net]
  • Individuals with RSS respond favorably to growth hormone treatment. Children with RSS that are treated with growth hormone before puberty may achieve several inches of additional height.[en.wikipedia.org]
  • Consult your personal physician or other professional health care provider when seeking individualized treatment regarding your medical diagnosis or condition.[varsome.com]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.[uniprot.org]
  • Molecular diagnostics have outpaced available interventions and most children receive generic physical, speech, and occupational therapies with little attention to the efficacy of such treatments.[pubfacts.com]

Prognosis

  • PMID: 21857152 Prognosis Hashmi JA, Al-Harbi KM, Ramzan K, Albalawi AM, Mehmood A, Samman MI, Basit S Ann Saudi Med 2016 Nov-Dec;36(6):391-396. doi: 10.5144/0256-4947.2016.391.[ncbi.nlm.nih.gov]

Etiology

  • Etiology Alrayes N, Mohamoud HS, Ahmed S, Almramhi MM, Shuaib TM, Wang J, Al-Aama JY, Everett K, Nasir J, Jelani M J Neurol Sci 2016 Apr 15;363:240-4. Epub 2016 Mar 2 doi: 10.1016/j.jns.2016.02.063. PMID: 27000257 Brain Dev 2014 Apr;36(4):351-5.[ncbi.nlm.nih.gov]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • To define the etiology of MFDM, we employed whole-exome sequencing of four unrelated affected individuals and identified heterozygous mutations or deletions of EFTUD2 in all four.[worldwidescience.org]
  • Etiology of microcephaly is heterogeneous but presentation often includes seizures, hypotonia, ataxia, stereotypic movements, attention deficits, excitability, cognitive delays, and poor communication skills.[pubfacts.com]

Epidemiology

  • Walsh type Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological[csbg.cnb.csic.es]
  • Relevant External Links for ZNF335 Genetic Association Database (GAD) ZNF335 Human Genome Epidemiology (HuGE) Navigator ZNF335 Atlas of Genetics and Cytogenetics in Oncology and Haematology: ZNF335 No data available for Genatlas for ZNF335 Gene Identification[genecards.org]
  • […] microcephaly Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological[csbg.cnb.csic.es]
Sex distribution
Age distribution

Pathophysiology

  • Read More Meningioangiomatosis: A review of the variable manifestations and complex pathophysiology. J Neurol Sci 2018 Sep 24;392:130-136. Epub 2018 Jul 24.[pubfacts.com]
  • Despite the recent identification of six genes involved in microlissencephaly, the pathophysiological basis of this condition remains poorly understood.[worldwidescience.org]

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