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]

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]

• Hemophilia A

  […] polyangiitis 1.0 I * 83463 Microtia 15.5 BP 139450 Microtia-eye coloboma- imperforation of the nasolacrimal duct syndrome 1 Family 2290 Microvillus inclusion disease 137 Cases 2557 Mietens syndrome 9 Cases 2558 Mikati-Najjar-Sahli syndrome 5 Cases 169799 Mild hemophilia [azkurs.org]

  A Sanger Sequencing of the F8 gene Hemophilia A Analysis for Intron 22 Inversion in F8 gene Hemophilia A Analysis for Intron 1 Inversion in F8 gene Hemophilia A Detection of large deletions and/or duplications in F8 gene Hemophilia B Sanger Sequencing [pentacorelab.hu]

  A, 306700 F9 Hemophilia B, 306900 COL4A2 Hemorrhage, intracerebral, susceptibility to, 614519 JAM3 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 SERPINA1 Hemorrhagic diathesis due to 'antithrombin' Pittsburgh [gsdseq.ir]

• Lymphedema

  […] syndrome 2 Cases 137658 Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome 3 Cases 457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 14 Cases 2526 Microcephaly-lymphedema [azkurs.org]

  Hypertriglyceridemia APOB Hypobetalipoproteinemia, Familial, Apolipoprotein B APOB Hypopigmentation GLI3 Hypoplastic Left Heart Syndrome GJA1 Hypospadias 1, X-Linked AR Hypothalamic Hamartomas GLI3 Hypotrichosis And Recurrent Skin Vesicles DSC3 Hypotrichosis-Lymphedema-Telangiectasia [selfdecode.com]

  hereditary, IC, 613480 FLT5 Lymphedema,hereditary,IA,153100 FOXC2 Lymphedema-distichiasis syndrome with/without renal disease and diabetes mellitus,153400 RAP1GDS1 Lymphocytic leukemia, acute T-cell BCL10 Lymphoma, follicular, somatic, 613024 BCL10 [gsdseq.ir]

  […] q13 Angelman syndrome due to maternal 15q11q13 deletion Angelman syndrome due to paternal uniparental disomy of chromosome 15 Angioosteohypertrophic syndrome Angioosteohypotrophic syndrome Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema [se-atlas.de]

  Rieger or Axenfeld anomalies, 602482 (3) FOXC2 G:602402 +GR-Bell Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 (3) FOXC2 G:602402 +GR-Bell Lymphedema-distichiasis syndrome, 153400 (3) FOXD1 G:601091. . [usegalaxy.org]

• Marfanoid Habitus

  Microcephaly-deafness- intellectual disability syndrome 2 Cases 137653 Microcephaly-digital anomalies-intellectual disability syndrome 2 Cases 217026 Microcephaly-facio-cardio- skeletal syndrome, Hadziselimovic type 5 Cases 2172 Microcephaly- glomerulonephritis-marfanoid [azkurs.org]

  habitus X-linked intellectual disability, Abidi type X-linked intellectual disability, Armfield type X-linked intellectual disability, Brooks type X-linked intellectual disability, Cabezas type X-linked intellectual disability, Cantagrel type X-linked [se-atlas.de]

• Osteoporosis

  […] hyperlaxity syndrome Osteoporosis-oculocutaneous hypopigmentation syndrome Osteoporosis-pseudoglioma syndrome Osteosclerosis-developmental delay-craniosynostosis syndrome Osteosclerosis-ichthyosis-premature ovarian failure syndrome Otopalatodigital syndrome [se-atlas.de]

  Oligodendroglioma HES1 Oncocytoma, Renal FLCN Optic Atrophies, Hereditary ND4 Optic Atrophy, Hereditary, Leber ND4 Oral Ulcer EDN1 Orofacial Cleft 5 MSX1 Orofaciodigital Syndromes C2CD3 Osler-Rendu-Weber Syndrome 2 ACVRL1 Osteoglophonic Dwarfism FGFR1 Osteoporosis [selfdecode.com]

  166710 WNT1 Osteoporosis, early-onset, susceptibility to, autosomal dominant, 615221 COL1A2 Osteoporosis, postmenopausal,166710 VDR Osteoporosis,involutional,166710 LRP5 Osteoporosis-pseudoglioma syndrome, 259770 TP53 Osteosarcoma, 259500 CHEK2- RB1 [gsdseq.ir]

  Sanger Sequencing of the FGD1 gene Ablepharon-macrostomia syndrome Detection of deletions and/or duplications in FGD1 gene by MLPA Ablepharon-macrostomia syndrome Sanger sequencing of the TWIST2 gene Abnormal mineralization group: Nephrolithiasis / osteoporosis [pentacorelab.hu]

  […] association with} 125853 606201 Autosomal dominant WNK1 12p13.33 Pseudohypoaldosteronism, type IIC 614492 605232 Autosomal dominant WNK1 12p13.33 Neuropathy, hereditary sensory and autonomic, type II 201300 605232 Autosomal recessive WNT1 12q13.12 {Osteoporosis [mnglabs.com]

• Sparse Hair

  hair - brachydactyly Isolated anophthalmia - microphthalmia Juvenile Huntington disease LIG4 syndrome Li-Fraumeni syndrome Limb-mammary syndrome MULIBREY nanism Microcephalic osteodysplastic primordial dwarfism type 2 Omenn syndrome Papilloma of choroid [csbg.cnb.csic.es]

  […] disability syndrome Osteoglosphonic dysplasia Osteomesopyknosis Osteonecrosis Osteonecrosis of the jaw Osteopathia striata-cranial sclerosis syndrome Osteopathia striata-pigmentary dermopathy-white forelock syndrome Osteopenia-intellectual disability-sparse [se-atlas.de]

• 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]

• Cryptorchidism

  […] transaminase Progressive Leukoencephalopathy Progressive encephalopathy Abnormal myelination Congenital onset Dilation of lateral ventricles Flexion contracture Hypertrophic cardiomyopathy Abnormality of the dentition Atrial septal defect Feeding difficulties Cryptorchidism [mendelian.co]

  Hypertension ATP7A|EDN1|NOS3 Carcinoma, Small Cell SMARCA4|TP53 Heinz Body Anemias HBA1|HBA2 Acute Lung Injury ACVR1|EDN1 Muscular Atrophy CITED2|CTNNB1 Muscular Diseases SMAD4|TTN Carcinoma, Transitional Cell KDM6A|TP53 Myelodysplastic Syndromes BMI1|MYC Cryptorchidism [selfdecode.com]

  Intellectual disability-cataracts-calcified pinnae-myopathy syndrome Intellectual disability-cataracts-kyphosis syndrome Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome Intellectual disability-craniofacial dysmorphism-cryptorchidism [se-atlas.de]

  INSL3 Cryptorchidism, 219050 MNX1 Currarino syndrome, 176450 ATR Cutaneous telangiectasia and cancer syndrome, familial, 614564 ELN Cutis laxa AD,123700 LTBP4 Cutis laxa autosomal recessive type IC,613177 ATP6V0A2 Cutis laxa, autosomal recessive, type [gsdseq.ir]

  Cryptorchidism, idiopathic, 219050 (3) INSL4 G:600910. . INSL5 G:606413. . INSL6 G:606414. . INSM1 G:600010. . INSM2 G:614027. . [usegalaxy.org]

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]

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]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

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]

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]

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]

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]