In the early papules, a few sporadic dyskeratotic keratinocytes were present in the epidermis with or without a thickened horny layer. [ncbi.nlm.nih.gov]

Additional neurological and neuromuscular symptoms such as diminished muscle tone, weakness, involuntary rapid eye movements, vision loss, and seizures may become present. [en.wikipedia.org]

Acronym KANZD Synonyms NAGA deficiency type II Schindler disease type II Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

This paper presents an overview of the biochemistry and the clinical spectrum of this group of diseases including sialidosis, galactosialidosis, α ‐and β ‐mannosidosis, fucosidosis, aspartylglucosaminuria, and α ‐N‐acetylgalactosaminidase deficiency [doi.org]

• Gaucher Disease

  […] deterioration Fabry Disease 8-Galactosidase A adolesence - adulthood normal intelligence www.fabry.org Gaucher Disease, Type 1 Glucocerebrosidase AR variable normal intelligence www.gaucherdisease.org, www.gaucherdisease.org.uk Gaucher Disease, Type [ntsad.org]

  disease fucosidosis galactosialidosis galactosialidosis (combined neuraminidase & beta-galactosidase deficiency) galactosylceramidase gangliosidosis Gaucher disease gene editing gene therapy gene transfer genetic counseling genotype-phenotype correlation [worldsymposia.org]

  Gaucher disease: molecular heterogeneity and phenotype-genotype correlations. Am J Hum Genet. 1989 Aug; 45 (2):212–225. [ PMC free article ] [ PubMed ] [ Google Scholar ] Chou PY, Fasman GD. [ncbi.nlm.nih.gov]

  Schindler/Kanzaki disease belongs to the lysosomal storage disease family, which includes such diverse diseases as Tay-Sachs, Sandhoff, Gaucher, and Fabry diseases. [pnas.org]

  1 ( ABCB4) Gallbladder disease 4 ( ABCG8) GAMT deficiency ( GAMT) Gastric cancer, familial diffuse ( CDH1) Gaucher disease, atypical ( PSAP) Gaucher disease, perinatal lethal ( GBA) Gaucher disease, type ( GBA) Gaucher disease, type II ( GBA) Gaucher [de.praenatal-medizin.de]

• Asymptomatic

  The scope is vast and ranges from asymptomatic carriers to carriers with fully expressed Fabry disease. Asymptomatic corneal dystrophy occurs in approximately 70% of carriers. This is an indication of the carrier state. [emedicine.medscape.com]

  […] syndrome Asymmetrical coronal synostosis, cutaneous syndactyly of the fingers and toes, and jejunal atresia - See Coronal synostosis, syndactyly and jejunal atresia Asymmetry in the pigmentation of the irides - See Heterochromia iridis - not a rare disease Asymptomatic [rarediseases.info.nih.gov]

• Thick Lips

  […] vermilion border Full lips Increased volume of lip Plump lips Prominent lips Thick lips [ more ] 0012471 Tinnitus Ringing in ears Ringing in the ears [ more ] 0000360 Percent of people who have these symptoms is not available through HPO Abnormality [rarediseases.info.nih.gov]

  Individuals with Schindler disease type II may also develop distinctive facial features including mildly coarse features, thick lips, a depressed nasal bridge and an enlarged tip of the nose. [rarediseases.org]

• Hematuria

  Heart block, nonprogressive ( SCN5A) Heart block, progressive, type IA ( SCN5A) Heinz body anemia ( HBA2) Heinz body anemias, alpha- ( HBA1) Heinz body anemias, beta- ( HBB) HELLP syndrome, maternal, of pregnancy ( HADHA) Hematopoiesis, cyclic ( ELANE) Hematuria [de.praenatal-medizin.de]

Hand muscle weakness, Foot muscle weakness, Diagnosis The diagnostic workup is based on the conditions symptoms, as well as the age. A urine test to show increased oligosaccharides, blood test or skin biopsy may help confirm the diagnosis. [lymphedemapeople.com]

• Alpha-Galactosidase A Deficiency

  alpha-N-Acetylgalactosaminidase Deficiency, Type II Alpha-N-acetylgalactosaminidase deficiency adult onset Alpha-Galactosidase B Deficiency Alpha-N-Acetylgalactosaminidase Deficiency, Type I Schindler Disease, Type II Alpha-Naga Deficiency Galb Deficiency [purl.bioontology.org]

  alpha-galactosidase B deficiency alpha-galNAc deficiency, Schindler type alpha N-acetylgalactosaminidase deficiency alpha-NAGA deficiency angiokeratome corporis diffusum-glycopeptiduria GALB deficiency Kanzaki disease lysosomal glycoaminoacid storage [ldnz.org.nz]

  Also known as: alpha-galactosidase B deficiency alpha-galNAc deficiency, Schindler type alpha-N-acetylgalactosaminidase deficiency alpha-NAGA deficiency angiokeratoma corporis diffusum-glycopeptiduria GALB deficiency Kanzaki disease lysosomal glycoaminoacid [wiki.ggc.usg.edu]

  Schindler Type Disorder Subdivisions Alpha-Galactosidase B Deficiency Alpha-GalNAc Deficiency, Schindler Type Schindler Disease, Type I (Infantile Onset) Schindler Disease, Infantile Onset Infantile Onset Schindler Disease Classic Schindler Disease [healthmedicinet.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

In addition, all new patients in the U.S. are eligible to begin Fabrazyme treatment, at full dosing levels. [news-medical.net]

Management and treatment Treatment of this disorder is symptomatic and supportive. [orpha.net]

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

There is currently no cure and very few options for treatment. [dailycollegian.com]

Prognosis Prognosis is variable depending on the type of NAGA deficiency, with type 1 having the worst and the other types having fairer outcomes. [orpha.net]

Prognosis - Schindler disease Prognosis is variable depending on the type of NAGA deficiency, with type 1 having the worst (usually dying within 4 years of birth) and the other types having fairer outcomes. [checkorphan.org]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. SCHINDLER DISEASE TYPE I Schindler disease type I, the classic form of the disease, begins in infancy. [rarediseases.org]

Prognosis Few afflicted men live to be older than 50 years. A male cardiac variant exists in which patients have enough alpha-galactosidase to stave off the renal, neurologic, and skin changes typical of Fabry disease. [emedicine.medscape.com]

Serum α-N-acetylgalactosaminidase is associated with diagnosis/prognosis of patients with squamous cell carcinoma of the uterine cervix. Cancer Lett. 2000; 158 :61–4. [ PubMed ] [ Google Scholar ] 37. Desnick RJ, Schuchman EH. [ncbi.nlm.nih.gov]

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

Etiology Different causal homozygous mutations of the NAGA gene (22q13.2) have been described in the reported patients. These mutations lead to the dysfunction, instability and rapid degradation of the lysosomal protein, NAGA. [rarediseases.info.nih.gov]

Parkinson disease in twins: an etiologic study. JAMA 1999 ;281: 341 - 346 16. Piccini P, Burn DJ, Ceravolo R, Maraganore D, Brooks DJ. [nejm.org]

Summary Epidemiology Exact prevalence of NAGA deficiency is unknown but fewer than 20 cases have been reported to date in patients of German, Dutch, Spanish, Japanese, French and Moroccan origin. [orpha.net]

Epidemiology Prevalence of this disorder is not known but less than 20 cases have been reported to date for NAGA deficiency. Clinical description This disorder is clinically heterogeneous. [rarediseases.info.nih.gov]

In some epidemiologic studies the relation between smoking and colitis has been stronger in men than in women 4,19-21. [nejm.org]

[…] corporis diffusum (Fabry disease) versus matched controls, suggesting VEGF-A might be involved with vascular damage in angiokeratoma corporis diffusum (Fabry disease); however, additional research is needed to clarify the significance of this finding. [6] Epidemiology [emedicine.medscape.com]

Pathophysiology A defect in the activity of alpha-galactosidase, a lysosomal enzyme, results in the insidious storage of 2 neutral glycosphingolipids: trihexosylceramide (galactosylgalactosylglucosylceramide) and digalactosylceramide (galabiosylceramide [emedicine.medscape.com]

Kanzaki disease, NAGA deficiency, alpha-N-acetylgalactosaminidase deficiency Symptoms - Schindler disease Causes - Schindler disease Prevention - Schindler disease Prenatal diagnosis is theoretically possible by mutation analysis of the NAGA gene after [checkorphan.org]

Is chronic lung disease in low birth weight infants preventable? A survey of eight centers. ‎ Página 84 - Tanner JM, Whitehouse RH, Marubini E, Resele LF. The adolescent growth spurt of boys and girls of the Harpenden growth study. ‎ [books.google.es]

[…] maintenance of satisfactory nutrition and hydration, management of infectious diseases (possibly by antibiotic shielding), control of seizures by anti-epileptic drugs, reduction of spasticity or pain with medication, adequate positioning, physiotherapy to prevent [orpha.net]

In gene therapy, the defective gene present in a patient is replaced with a normal gene to enable the production of active enzyme and prevent pathology. [medigoo.com]