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Brachydactyly-arterial hypertension syndrome(HTNB)

MedGen UID:
349445
Concept ID:
C1862170
Disease or Syndrome
Synonyms: Bilginturan syndrome; Brachydactyly type E with short stature and hypertension; Brachydactyly with hypertension
SNOMED CT: Brachydactyly and arterial hypertension syndrome (720568003); Bilginturan brachydactyly (720568003); Bilginturan syndrome (720568003); Brachydactyly type E with short stature and hypertension (720568003)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): PDE3A (12p12.2)
 
Monarch Initiative: MONDO:0007211
OMIM®: 112410
Orphanet: ORPHA1276

Definition

The hypertension and brachydactyly syndrome (HTNB) is characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and death from stroke before age 50 years when untreated (summary by Maass et al., 2015). [from OMIM]

Clinical features

From HPO
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Anatomical Abnormality
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Brachydactyly type E
MedGen UID:
939359
Concept ID:
C4315392
Congenital Abnormality
Brachydactyly type E comprises one or more shortened metacarpals and metatarsals (summary by Johnson et al., 2003). Another form of brachydactyly type E, BDE2 (613382), is caused by heterozygous mutation in the PTHLH gene (168470) on chromosome 12p11. Also see the hypertension and brachydactyly syndrome (112410).
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Cone-shaped epiphysis
MedGen UID:
351282
Concept ID:
C1865037
Finding
Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBrachydactyly-arterial hypertension syndrome
Follow this link to review classifications for Brachydactyly-arterial hypertension syndrome in Orphanet.

Professional guidelines

PubMed

Joglar JA, Chung MK, Armbruster AL, Benjamin EJ, Chyou JY, Cronin EM, Deswal A, Eckhardt LL, Goldberger ZD, Gopinathannair R, Gorenek B, Hess PL, Hlatky M, Hogan G, Ibeh C, Indik JH, Kido K, Kusumoto F, Link MS, Linta KT, Marcus GM, McCarthy PM, Patel N, Patton KK, Perez MV, Piccini JP, Russo AM, Sanders P, Streur MM, Thomas KL, Times S, Tisdale JE, Valente AM, Van Wagoner DR; Peer Review Committee Members
Circulation 2024 Jan 2;149(1):e1-e156. Epub 2023 Nov 30 doi: 10.1161/CIR.0000000000001193. PMID: 38033089Free PMC Article
Virani SS, Newby LK, Arnold SV, Bittner V, Brewer LC, Demeter SH, Dixon DL, Fearon WF, Hess B, Johnson HM, Kazi DS, Kolte D, Kumbhani DJ, LoFaso J, Mahtta D, Mark DB, Minissian M, Navar AM, Patel AR, Piano MR, Rodriguez F, Talbot AW, Taqueti VR, Thomas RJ, van Diepen S, Wiggins B, Williams MS; Peer Review Committee Members
Circulation 2023 Aug 29;148(9):e9-e119. Epub 2023 Jul 20 doi: 10.1161/CIR.0000000000001168. PMID: 37471501
Fassnacht M, Tsagarakis S, Terzolo M, Tabarin A, Sahdev A, Newell-Price J, Pelsma I, Marina L, Lorenz K, Bancos I, Arlt W, Dekkers OM
Eur J Endocrinol 2023 Jul 20;189(1):G1-G42. doi: 10.1093/ejendo/lvad066. PMID: 37318239

Recent clinical studies

Etiology

Turcu AF, Yang J, Vaidya A
Nat Rev Endocrinol 2022 Nov;18(11):665-682. Epub 2022 Aug 31 doi: 10.1038/s41574-022-00730-2. PMID: 36045149
Di Raimondo D, Buscemi S, Musiari G, Rizzo G, Pirera E, Corleo D, Pinto A, Tuttolomondo A
Nutrients 2021 Jul 27;13(8) doi: 10.3390/nu13082567. PMID: 34444726Free PMC Article
Litwin M, Kułaga Z
Pediatr Nephrol 2021 Apr;36(4):825-837. Epub 2020 May 9 doi: 10.1007/s00467-020-04579-3. PMID: 32388582Free PMC Article
Rossi GP, Bisogni V, Rossitto G, Maiolino G, Cesari M, Zhu R, Seccia TM
High Blood Press Cardiovasc Prev 2020 Dec;27(6):547-560. Epub 2020 Nov 7 doi: 10.1007/s40292-020-00415-9. PMID: 33159664Free PMC Article
Ives CW, Sinkey R, Rajapreyar I, Tita ATN, Oparil S
J Am Coll Cardiol 2020 Oct 6;76(14):1690-1702. doi: 10.1016/j.jacc.2020.08.014. PMID: 33004135

Diagnosis

Turcu AF, Yang J, Vaidya A
Nat Rev Endocrinol 2022 Nov;18(11):665-682. Epub 2022 Aug 31 doi: 10.1038/s41574-022-00730-2. PMID: 36045149
Rossi GP, Bisogni V, Rossitto G, Maiolino G, Cesari M, Zhu R, Seccia TM
High Blood Press Cardiovasc Prev 2020 Dec;27(6):547-560. Epub 2020 Nov 7 doi: 10.1007/s40292-020-00415-9. PMID: 33159664Free PMC Article
Ives CW, Sinkey R, Rajapreyar I, Tita ATN, Oparil S
J Am Coll Cardiol 2020 Oct 6;76(14):1690-1702. doi: 10.1016/j.jacc.2020.08.014. PMID: 33004135
Vaidya A, Carey RM
J Clin Endocrinol Metab 2020 Dec 1;105(12):3771-83. doi: 10.1210/clinem/dgaa606. PMID: 32865201Free PMC Article
Manosroi W, Williams GH
Endocr Rev 2019 Jun 1;40(3):825-856. doi: 10.1210/er.2018-00071. PMID: 30590482Free PMC Article

Therapy

Johnson RJ, Bakris GL, Borghi C, Chonchol MB, Feldman D, Lanaspa MA, Merriman TR, Moe OW, Mount DB, Sanchez Lozada LG, Stahl E, Weiner DE, Chertow GM
Am J Kidney Dis 2018 Jun;71(6):851-865. Epub 2018 Feb 27 doi: 10.1053/j.ajkd.2017.12.009. PMID: 29496260Free PMC Article
Boehme AK, Esenwa C, Elkind MS
Circ Res 2017 Feb 3;120(3):472-495. doi: 10.1161/CIRCRESAHA.116.308398. PMID: 28154098Free PMC Article
Rust P, Ekmekcioglu C
Adv Exp Med Biol 2017;956:61-84. doi: 10.1007/5584_2016_147. PMID: 27757935
Kattah AG, Garovic VD
Adv Chronic Kidney Dis 2013 May;20(3):229-39. doi: 10.1053/j.ackd.2013.01.014. PMID: 23928387Free PMC Article
Drager LF, Togeiro SM, Polotsky VY, Lorenzi-Filho G
J Am Coll Cardiol 2013 Aug 13;62(7):569-76. Epub 2013 Jun 12 doi: 10.1016/j.jacc.2013.05.045. PMID: 23770180Free PMC Article

Prognosis

Rossi GP, Bisogni V, Rossitto G, Maiolino G, Cesari M, Zhu R, Seccia TM
High Blood Press Cardiovasc Prev 2020 Dec;27(6):547-560. Epub 2020 Nov 7 doi: 10.1007/s40292-020-00415-9. PMID: 33159664Free PMC Article
Vaidya A, Carey RM
J Clin Endocrinol Metab 2020 Dec 1;105(12):3771-83. doi: 10.1210/clinem/dgaa606. PMID: 32865201Free PMC Article
Klok FA, Barco S
Hamostaseologie 2018 Feb;38(1):22-32. Epub 2018 Feb 26 doi: 10.5482/HAMO-17-06-0020. PMID: 29536477
Cheung AK, Rahman M, Reboussin DM, Craven TE, Greene T, Kimmel PL, Cushman WC, Hawfield AT, Johnson KC, Lewis CE, Oparil S, Rocco MV, Sink KM, Whelton PK, Wright JT Jr, Basile J, Beddhu S, Bhatt U, Chang TI, Chertow GM, Chonchol M, Freedman BI, Haley W, Ix JH, Katz LA, Killeen AA, Papademetriou V, Ricardo AC, Servilla K, Wall B, Wolfgram D, Yee J; SPRINT Research Group
J Am Soc Nephrol 2017 Sep;28(9):2812-2823. Epub 2017 Jun 22 doi: 10.1681/ASN.2017020148. PMID: 28642330Free PMC Article
Vest AR, Cho LS
Curr Atheroscler Rep 2014 Mar;16(3):395. doi: 10.1007/s11883-013-0395-8. PMID: 24477794

Clinical prediction guides

Litwin M, Kułaga Z
Pediatr Nephrol 2021 Apr;36(4):825-837. Epub 2020 May 9 doi: 10.1007/s00467-020-04579-3. PMID: 32388582Free PMC Article
Rossi GP, Bisogni V, Rossitto G, Maiolino G, Cesari M, Zhu R, Seccia TM
High Blood Press Cardiovasc Prev 2020 Dec;27(6):547-560. Epub 2020 Nov 7 doi: 10.1007/s40292-020-00415-9. PMID: 33159664Free PMC Article
Klok FA, Barco S
Hamostaseologie 2018 Feb;38(1):22-32. Epub 2018 Feb 26 doi: 10.5482/HAMO-17-06-0020. PMID: 29536477
Pappachan JM, Buch HN
Adv Exp Med Biol 2017;956:215-237. doi: 10.1007/5584_2016_26. PMID: 27864805
Aldenkortt F, Aldenkortt M, Caviezel L, Waeber JL, Weber A, Schiffer E
World J Gastroenterol 2014 Jul 7;20(25):8072-81. doi: 10.3748/wjg.v20.i25.8072. PMID: 25009379Free PMC Article

Recent systematic reviews

Bukavina L, Bensalah K, Bray F, Carlo M, Challacombe B, Karam JA, Kassouf W, Mitchell T, Montironi R, O'Brien T, Panebianco V, Scelo G, Shuch B, van Poppel H, Blosser CD, Psutka SP
Eur Urol 2022 Nov;82(5):529-542. Epub 2022 Sep 10 doi: 10.1016/j.eururo.2022.08.019. PMID: 36100483
Astarita A, Covella M, Vallelonga F, Cesareo M, Totaro S, Ventre L, Aprà F, Veglio F, Milan A
J Hypertens 2020 Jul;38(7):1203-1210. doi: 10.1097/HJH.0000000000002372. PMID: 32510905
Boyle NB, Lawton C, Dye L
Nutrients 2017 Apr 26;9(5) doi: 10.3390/nu9050429. PMID: 28445426Free PMC Article
Rabie N, Magann E, Steelman S, Ounpraseuth S
Ultrasound Obstet Gynecol 2017 Apr;49(4):442-449. doi: 10.1002/uog.15929. PMID: 27062200
Mussa FF, Horton JD, Moridzadeh R, Nicholson J, Trimarchi S, Eagle KA
JAMA 2016 Aug 16;316(7):754-63. doi: 10.1001/jama.2016.10026. PMID: 27533160

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