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]

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]

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]

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]

• Dry Skin

  […] deficits Intellectual impairment Mental impairment [ more ] 0100543 Distal muscle weakness Weakness of outermost muscles 0002460 Distal sensory impairment Decreased sensation in extremities 0002936 Distal sensory impairment of all modalities 0003409 Dry [rarediseases.info.nih.gov]

• Subcutaneous Nodule

  nodule Firm lump under the skin Growth of abnormal tissue under the skin [ more ] 0001482 Telangiectasia of the oral mucosa Spider veins of the oral mucosa 0007428 Telangiectasia of the skin 0100585 Vertigo Dizzy spell 0002321 30%-79% of people have [rarediseases.info.nih.gov]

• Hand Muscle Weakness

  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]

• Thick Lips

  Another patient had lymphedema, cardiomegaly, corneal opacity and slight facial coarsening including thick lips, a depressed nasal bridge and an enlarged tip of the nose. [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]

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]

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]

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]

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]

There is no cure for Kanzaki disease and treatments will focus on the comorbidities or complications. [lymphedemapeople.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]

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]

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]

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]

[…] 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]

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]

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]