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27 Possible Causes for CDG, IN

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  • Al-Gazali-Dattani Syndrome

    neutropenia [ ] Adult intestinal botulism [ ] Adult intestinal colonization botulism [ ] Adult intestinal toxemia botulism [ ] Adult intestinal toxin-mediated botulism [[wikicure.wikia.com] […] of CDG [ 4 , 5 , 14 ].[bmcmedgenet.biomedcentral.com] […] highly suspected cases, even when CDG screening is normal.[nature.com]

  • Congenital Disorder of Glycosylation Type 2J

    neutropenia) induces a sustained increase in absolute neutrophil counts in peripheral blood and a reduction of infection and related events es Muchas anomalías congénitas[es.glosbe.com] PMM2-CDG (CDG-Ia). 2005 Aug 15 [updated 2015 Oct 29].[ghr.nlm.nih.gov] Homepage Rare diseases Search Search for a rare disease PMM2-CDG Disease definition PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized[orpha.net]

  • PGM3-Related Congenital Disorder of Glycosylation

    Severe autoimmune/idiopathic neutropenia requiring granulocyte colonystimulating factor (patient II.1) and hemolytic anemia (patient II.2) with osmotic fragility also occurred[mafiadoc.com] Names and Terminology for PGM3-CDG syndrome Other Names : Phosphoglucomutase 3 deficiency; CID due to PGM3 deficiency; PGM3-related congenital disorder of glycosylation ;[familydiagnosis.com] Orpha Number: 443811 Disease definition PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood[rarediseases.info.nih.gov]

  • Atypical Hemolytic-Uremic Syndrome with Thrombomodulin Anomaly

    neutropenia [ ] Adult intestinal botulism [ ] Adult intestinal colonization botulism [ ] Adult intestinal toxemia botulism [ ] Adult intestinal toxin-mediated botulism [[wikicure.wikia.com] 869 Síndrome doble A 37202 Síndrome doloroso de la vejiga 79500 Síndrome DOOR 86309 Síndrome DPAGT1-CDG 79322 Síndrome DPM1-CDG 263494 Síndrome DPM3-CDG 139402 Síndrome DRESS[yumpu.com] […] osteomyelitis [ ] Adult CRMO [ ] Adult familial nephronophtisis - spastic quadriparesia [ ] Adult heart tumor [ ] Adult hepatocellular carcinoma [ ] Adult hypophosphatasia [ ] Adult idiopathic[wikicure.wikia.com]

  • Holoprosencephaly - Recurrent Infections - Monocytosis

    Administration of G-CSF has greatly reduced these neutropenia-associated events. 74 Chronic idiopathic neutropenia in adults predominantly affects women 18 to 35 years of[doctorlib.info] Freeze and Aebi (1999) reviewed CDG Ib ( OMIM ) and CDG Ic.[mendelian.co] It is the second largest subtype of CDG (summary by Sun et al., 2005 ).For a discussion of the classification of CDGs, see CDG1A ( OMIM ).[mendelian.co]

  • Amelogenesis Imperfecta Type 1G with Nephrocalcinosis

    neutropenia [ ] Adult intestinal botulism [ ] Adult intestinal colonization botulism [ ] Adult intestinal toxemia botulism [ ] Adult intestinal toxin-mediated botulism [[wikicure.wikia.com] 57 Cases 79326 ALG2-CDG 1 Case 79321 ALG3-CDG 11 Cases 79320 ALG6-CDG 54 Cases 79325 ALG8-CDG 15 Cases 79328 ALG9-CDG 10 Cases 280071 ALG11-CDG 5 Cases 79324 ALG12-CDG 11[azkurs.org] […] osteomyelitis [ ] Adult CRMO [ ] Adult familial nephronophtisis - spastic quadriparesia [ ] Adult heart tumor [ ] Adult hepatocellular carcinoma [ ] Adult hypophosphatasia [ ] Adult idiopathic[wikicure.wikia.com]

  • Autosomal Dominant Aplasia and Myelodysplasia

    The molecular mechanisms for most acquired disorders causing neutropenia ( eg , idiopathic neutropenia, pure white-cell aplasia, myelodysplasia, and aplastic anemia) are not[link.springer.com] […] tipo IIf Doença de Charcot-Marie-Tooth tipo B, 254334 intermédia, autossómica recessiva 250977 Ribosiduria-AICA 300536 CDG syndrome type IR 1 Caso 324422 ALG13-CDG syndrome[doczz.com.br] 370097 Oculocutaneous albinism type 6 1 Caso 370927 SSR4-CDG 440706 Ribose-5-P isomerase deficiency 1 Caso 435934 COG2-CDG Combined immunodeficiency due to OX40 431149 deficiency[doczz.com.br]

  • Congenital Neutropenia

    Chronic Idiopathic Neutropenia The term "idiopathic" neutropenia describes various types of neutropenia that may occur an any point in life for unknow reasons.[neutropenia.ca] Sturla L, Rampal R, Haltiwanger RS et al (2003) Differential terminal fucosylation of N-linked glycans versus protein O-fucosylation in leukocyte adhesion deficiency type II (CDG[springermedizin.de] The symptoms of autoimmune and idiopathic neutropenia include infections. They’re usually not as severe as those in congenital forms.[healthline.com]

  • Autosomal Recessive Spastic Paraplegia Type 23

    […] carcinoma Adult hypophosphatasia Adult idiopathic neutropenia Adult intestinal botulism Adult intestinal colonization botulism Adult intestinal toxemia botulism Adult intestinal[orpha.net] storage disease due to phosphoglucomutase deficiency Griscelli disease type 2 Growth delay due to insulin-like growth factor I resistance Hamel cerebro-palato-cardiac syndrome[csbg.cnb.csic.es] ADTKD-MUC1 ADTKD-REN ADTKD-UMOD Adult acute respiratory distress syndrome Adult ARDS Adult Bartter syndrome Adult basal ganglia disease Adult cardiac tumor Adult chronic idiopathic[orpha.net]

  • Senior-Boichis Syndrome

    Neutrophilic dermatoses in two children with idiopathic neutropenia: association with granulocyte colony‐stimulating factor (G‐CSF) therapy.[zdoc.site] storage disease due to phosphoglucomutase deficiency Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Glycogen storage disease due to phosphoglycerate[csbg.cnb.csic.es] […] type Ir CDG syndrome type Is CDG syndrome type Iu CDG-Ia CDG-Ib CDG-Ic CDG-Id CDG-Ie CDG-If CDG-Ig CDG-Ih CDG-Ii CDG-IIa CDG-IIb CDG-IIc CDG-IId CDG-IIe CDG-IIf CDG-IIg CDG-IIh[csbg.cnb.csic.es]

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