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Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. 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Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3)." }, { "id": "MONDO:0013349", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013349", "name": "ALG11-CDG", "description": "" }, { "id": "MONDO:0013349", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013349", "name": "ALG11-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0013349", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013349", "name": "CDG syndrome type Ip", "description": "" }, { "id": "MONDO:0013349", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013349", "name": "CDG-Ip", "description": "" }, { "id": "MONDO:0013349", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013349", "name": "CDG1P", "description": "" }, { "id": "MONDO:0013349", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013349", "name": "carbohydrate deficient 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"title": "ALG11-CDG syndrome: Expanding the phenotype.", "journal": "American journal of medical genetics. Part A", "date": "2019-03", "authors": "Haanp\u00e4\u00e4 Maria K, Ng Bobby G, Gallant Natalie M, Singh Kathryn E, Brown Candida, Kimonis Virginia, Freeze Hudson H, Muller Eric A", "reference": { "type": "PubMed", "id": "30676690", "url": "https://pubmed.ncbi.nlm.nih.gov/30676690" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q2TAA5-1", "protein_name": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "gene_name": "ALG11", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q2TAA5", "url": "https://www.uniprot.org/uniprotkb/Q2TAA5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs1064795802", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1064795802" }, { "id": "rs1064795802", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1064795802#frequency_tab" }, { "id": "30676690", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/30676690" } ], "glycoeffect": [], "start_pos": 312, "end_pos": 312, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "13", "chr_pos": "52024665", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E312", "disease": [ { "disease_id": "DOID:0080567", "recommended_name": { "id": "DOID:0080567", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080567", "name": "congenital disorder of glycosylation Ip", "description": "A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14." }, "synonyms": [ { "id": "DOID:0080567", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080567", "name": "congenital disorder of glycosylation 1p", "description": "" }, { "id": "MONDO:0013349", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013349", "name": "ALG11-congenital disorder of glycosylation", "description": "A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. 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transcription factor AP-2 beta like gene (TFAP2BL1).", "journal": "Int. 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Cell Biol.", "date": "2002", "authors": "Cheng C, Ying K, Xu M, Zhao W, Zhou Z, Huang Y, Wang W, Xu J, Zeng L, Xie Y, Mao Y", "reference": { "type": "PubMed", "id": "11733187", "url": "https://pubmed.ncbi.nlm.nih.gov/11733187" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q7Z6R9-1", "protein_name": "Transcription factor AP-2-delta", "gene_name": "TFAP2D", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z6R9", "url": "https://www.uniprot.org/uniprotkb/Q7Z6R9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11733187", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", 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of the human ADP-ribosylation factor 6 (ARF6) gene: a class III ARF.", "journal": "DNA Cell Biol.", "date": "2003", "authors": "Lebeda Ray A, Johnson Sarah K, Stewart Malcolm I, Haun Randy S", "reference": { "type": "PubMed", "id": "14659046", "url": "https://pubmed.ncbi.nlm.nih.gov/14659046" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P62330-1", "protein_name": "ADP-ribosylation factor 6", "gene_name": "ARF6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P62330", "url": "https://www.uniprot.org/uniprotkb/P62330" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.14659046", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], 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Biol.", "date": "2004", "authors": "Martinu Lenka, Masuda-Robens Jeffrey M, Robertson Sarah E, Santy Lorraine C, Casanova James E, Chou Margaret M", "reference": { "type": "PubMed", "id": "15509780", "url": "https://pubmed.ncbi.nlm.nih.gov/15509780" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P62330-1", "protein_name": "ADP-ribosylation factor 6", "gene_name": "ARF6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P35125-1", "protein_name": "Ubiquitin carboxyl-terminal hydrolase 6", "gene_name": "USP6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P62330", "url": "https://www.uniprot.org/uniprotkb/P62330" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15509780", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { 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J. Hum. 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