U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

ADULT i BLOOD GROUP PHENOTYPE

MedGen UID:
714421
•Concept ID:
C1292164
•
Finding
Synonyms: ADULT i PHENOTYPE; Adult i phenotype
SNOMED CT: i>adult< phenotype (115752000)
 
OMIM®: 110800; 600429

Professional guidelines

PubMed

ERS/EBMT clinical practice guidelines on treatment of pulmonary chronic graft-versus-host disease in adults.
Bos S, Murray J, Marchetti M, Cheng GS, Bergeron A, Wolff D, Sander C, Sharma A, Badawy SM, Peric Z, Piekarska A, Pidala J, Raj K, Penack O, Kulkarni S, Beestrum M, Linke A, Rutter M, Coleman C, Tonia T, Schoemans H, Stolz D, Vos R
Eur Respir J 2024 Mar;63(3) Epub 2024 Mar 28 doi: 10.1183/13993003.01727-2023. PMID: 38485149
Biologics in the treatment of asthma in children and adolescents.
Bacharier LB, Jackson DJ
J Allergy Clin Immunol 2023 Mar;151(3):581-589. Epub 2023 Jan 24 doi: 10.1016/j.jaci.2023.01.002. PMID: 36702649
Recommendations for the management of hemophagocytic lymphohistiocytosis in adults.
La Rosée P, Horne A, Hines M, von Bahr Greenwood T, Machowicz R, Berliner N, Birndt S, Gil-Herrera J, Girschikofsky M, Jordan MB, Kumar A, van Laar JAM, Lachmann G, Nichols KE, Ramanan AV, Wang Y, Wang Z, Janka G, Henter JI
Blood 2019 Jun 6;133(23):2465-2477. Epub 2019 Apr 16 doi: 10.1182/blood.2018894618. PMID: 30992265

Recent clinical studies

Etiology

Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataract.
Happ H, Weh E, Costakos D, Reis LM, Semina EV
BMC Med Genet 2016 Sep 8;17(1):64. doi: 10.1186/s12881-016-0316-0. PMID: 27609212Free PMC Article
A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts.
Pras E, Raz J, Yahalom V, Frydman M, Garzozi HJ, Pras E, Hejtmancik JF
Invest Ophthalmol Vis Sci 2004 Jun;45(6):1940-5. doi: 10.1167/iovs.03-1117. PMID: 15161861

Diagnosis

Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataract.
Happ H, Weh E, Costakos D, Reis LM, Semina EV
BMC Med Genet 2016 Sep 8;17(1):64. doi: 10.1186/s12881-016-0316-0. PMID: 27609212Free PMC Article

Clinical prediction guides

A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts.
Pras E, Raz J, Yahalom V, Frydman M, Garzozi HJ, Pras E, Hejtmancik JF
Invest Ophthalmol Vis Sci 2004 Jun;45(6):1940-5. doi: 10.1167/iovs.03-1117. PMID: 15161861

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...