U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Congenital NAD deficiency disorder

MedGen UID:
910915
•Concept ID:
CN241975
•
Finding

Professional guidelines

PubMed

ISG15 deficiency features a complex cellular phenotype that responds to treatment with itaconate and derivatives.
Waqas SF, Sohail A, Nguyen AHH, Usman A, Ludwig T, Wegner A, Malik MNH, Schuchardt S, Geffers R, Winterhoff M, Merkert S, Martin U, Olmer R, Lachmann N, Pessler F
Clin Transl Med 2022 Jul;12(7):e931. doi: 10.1002/ctm2.931. PMID: 35842904Free PMC Article
Targeting epidermal lipids for treatment of Mendelian disorders of cornification.
Kiritsi D, Schauer F, Wölfle U, Valari M, Bruckner-Tuderman L, Has C, Happle R
Orphanet J Rare Dis 2014 Mar 7;9:33. doi: 10.1186/1750-1172-9-33. PMID: 24607067Free PMC Article

Recent clinical studies

Etiology

NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy.
Mark PR
Am J Med Genet A 2022 Sep;188(9):2834-2849. Epub 2022 Apr 29 doi: 10.1002/ajmg.a.62764. PMID: 35484986Free PMC Article
Disruptive NADSYN1 Variants Implicated in Congenital Vertebral Malformations.
Lin J, Zhao L, Zhao S, Li S, Zhao Z, Chen Z, Zheng Z, Shao J, Niu Y, Li X, Zhang JT, Wu Z, Wu N
Genes (Basel) 2021 Oct 14;12(10) doi: 10.3390/genes12101615. PMID: 34681008Free PMC Article

Diagnosis

Adult patient diagnosed with NADSYN1 associated congenital NAD deficiency and analysis of NAD levels to be published in: European Journal of Medical Genetics.
Erbs E, Brasen CL, Lund AM, Rasmussen M
Eur J Med Genet 2023 Mar;66(3):104698. Epub 2023 Jan 14 doi: 10.1016/j.ejmg.2023.104698. PMID: 36649848
Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies.
Kortbawi H, Ames E, Pritchard A, Devine P, van Ziffle J, Slavotinek A
Am J Med Genet A 2022 Aug;188(8):2479-2484. Epub 2022 May 2 doi: 10.1002/ajmg.a.62765. PMID: 35491967
NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy.
Mark PR
Am J Med Genet A 2022 Sep;188(9):2834-2849. Epub 2022 Apr 29 doi: 10.1002/ajmg.a.62764. PMID: 35484986Free PMC Article

Prognosis

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
Szot JO, Cuny H, Martin EM, Sheng DZ, Iyer K, Portelli S, Nguyen V, Gereis JM, Alankarage D, Chitayat D, Chong K, Wentzensen IM, Vincent-Delormé C, Lermine A, Burkitt-Wright E, Ji W, Jeffries L, Pais LS, Tan TY, Pitt J, Wise CA, Wright H, Andrews ID, Pruniski B, Grebe TA, Corsten-Janssen N, Bouman K, Poulton C, Prakash S, Keren B, Brown NJ, Hunter MF, Heath O, Lakhani SA, McDermott JH, Ascher DB, Chapman G, Bozon K, Dunwoodie SL
J Clin Invest 2024 Feb 15;134(4) doi: 10.1172/JCI174824. PMID: 38357931Free PMC Article

Clinical prediction guides

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
Szot JO, Cuny H, Martin EM, Sheng DZ, Iyer K, Portelli S, Nguyen V, Gereis JM, Alankarage D, Chitayat D, Chong K, Wentzensen IM, Vincent-Delormé C, Lermine A, Burkitt-Wright E, Ji W, Jeffries L, Pais LS, Tan TY, Pitt J, Wise CA, Wright H, Andrews ID, Pruniski B, Grebe TA, Corsten-Janssen N, Bouman K, Poulton C, Prakash S, Keren B, Brown NJ, Hunter MF, Heath O, Lakhani SA, McDermott JH, Ascher DB, Chapman G, Bozon K, Dunwoodie SL
J Clin Invest 2024 Feb 15;134(4) doi: 10.1172/JCI174824. PMID: 38357931Free PMC Article

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.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      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...