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Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies(THC11)

MedGen UID:
1051748
Concept ID:
CN375875
Disease or Syndrome
Synonym: THC11
 
Gene (location): RAP1B (12q15)
 
Monarch Initiative: MONDO:0958000
OMIM®: 620654

Definition

Thrombocytopenia-11 with multiple congenital anomalies and dysmorphic facies (THC11) is a syndromic disorder characterized by dysmorphic facial features, multiple congenital anomalies that may involve the heart, brain, genitourinary, endocrine, and/or skeletal systems, chronic and persistent thrombocytopenia, sometimes with leukopenia or anemia, poor growth with microcephaly, hypotonia, and mildly impaired intellectual development or learning disabilities. The disorder results from constitutive activation of the RAS signaling pathway and can be considered a RASopathy (Niemann et al., 2020; Miller et al., 2022). For a discussion of genetic heterogeneity of thrombocytopenia, see 313900. [from OMIM]

Recent clinical studies

Diagnosis

Bianchi C, Margot H, Fernandes H, Pasquet M, Priqueler L, Roy-Peaud F, Bauduer F, Bayart S, Garnier N, Fain O, Van Gils J, Joly SB, Rialland F, Paillard C, Deparis M, Lambilliotte A, Leblanc T, Fahd M, Leverger G, Héritier S, Geneviève D, Rieux-Laucat F, Picard C, Neyraud C, Aladjidi N
Br J Haematol 2024 May;204(5):1899-1907. Epub 2024 Mar 3 doi: 10.1111/bjh.19387. PMID: 38432067
Takenouchi T, Miura K, Uehara T, Mizuno S, Kosaki K
Am J Med Genet A 2016 Oct;170(10):2587-90. Epub 2016 Jun 3 doi: 10.1002/ajmg.a.37761. PMID: 27256762
Liu AP, Chow PC, Lee PP, Mok GT, Tang WF, Lau ET, Lam ST, Chan KY, Kan AS, Chau AK, Cheung YF, Lau YL, Chung BH
Eur J Med Genet 2014 May-Jun;57(6):306-11. Epub 2014 Apr 8 doi: 10.1016/j.ejmg.2014.03.014. PMID: 24721633
Giordano P, Lassandro G, Sangerardi M, Faienza MF, Valente F, Martire B
Ital J Pediatr 2014 Jan 25;40:10. doi: 10.1186/1824-7288-40-10. PMID: 24460868Free PMC Article
Putoux A, Labalme A, André JM, Till M, Schluth-Bolard C, Berard J, Bertrand Y, Edery P, Putet G, Sanlaville D
Am J Med Genet A 2013 Feb;161A(2):331-7. Epub 2013 Jan 15 doi: 10.1002/ajmg.a.35708. PMID: 23322614

Therapy

Bianchi C, Margot H, Fernandes H, Pasquet M, Priqueler L, Roy-Peaud F, Bauduer F, Bayart S, Garnier N, Fain O, Van Gils J, Joly SB, Rialland F, Paillard C, Deparis M, Lambilliotte A, Leblanc T, Fahd M, Leverger G, Héritier S, Geneviève D, Rieux-Laucat F, Picard C, Neyraud C, Aladjidi N
Br J Haematol 2024 May;204(5):1899-1907. Epub 2024 Mar 3 doi: 10.1111/bjh.19387. PMID: 38432067
Giordano P, Lassandro G, Sangerardi M, Faienza MF, Valente F, Martire B
Ital J Pediatr 2014 Jan 25;40:10. doi: 10.1186/1824-7288-40-10. PMID: 24460868Free PMC Article

Clinical prediction guides

Takenouchi T, Miura K, Uehara T, Mizuno S, Kosaki K
Am J Med Genet A 2016 Oct;170(10):2587-90. Epub 2016 Jun 3 doi: 10.1002/ajmg.a.37761. PMID: 27256762

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