U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Singleton-Merten syndrome 2(SGMRT2)

MedGen UID:
907372
Concept ID:
C4225380
Disease or Syndrome
Synonym: SGMRT2
 
Gene (location): RIGI (9p21.1)
 
Monarch Initiative: MONDO:0014575
OMIM®: 616298

Definition

Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015). For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (182250). [from OMIM]

Clinical features

From HPO
Acroosteolysis
MedGen UID:
183017
Concept ID:
C0917990
Disease or Syndrome
Dissolution or degeneration of bone tissue of the phalanges of the hand.
Aortic valve stenosis
MedGen UID:
1621
Concept ID:
C0003507
Pathologic Function
The presence of a stenosis (narrowing) of the aortic valve.
Cardiac arrhythmia
MedGen UID:
2039
Concept ID:
C0003811
Finding
Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
Aortic valve calcification
MedGen UID:
140899
Concept ID:
C0428791
Disease or Syndrome
Deposition of calcium salts in the aortic valve.
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).
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Joint subluxation
MedGen UID:
83065
Concept ID:
C0332768
Injury or Poisoning
A partial dislocation of a joint.
Abnormality of the dentition
MedGen UID:
78084
Concept ID:
C0262444
Finding
Any abnormality of the teeth.
Hyperkeratosis
MedGen UID:
209030
Concept ID:
C0870082
Disease or Syndrome
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
Psoriasiform lesion
MedGen UID:
1382107
Concept ID:
C4476830
Finding
A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus.
Glaucoma
MedGen UID:
42224
Concept ID:
C0017601
Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.

Professional guidelines

PubMed

Nitschke Y, Rutsch F
Curr Osteoporos Rep 2017 Aug;15(4):255-270. doi: 10.1007/s11914-017-0370-3. PMID: 28585220

Recent clinical studies

Etiology

Rutsch F, Buers I, Nitschke Y
Arterioscler Thromb Vasc Biol 2021 Jan;41(1):35-47. Epub 2020 Nov 12 doi: 10.1161/ATVBAHA.120.315577. PMID: 33176451
Yu ZX, Song HM
World J Pediatr 2020 Feb;16(1):44-51. Epub 2019 Aug 3 doi: 10.1007/s12519-019-00273-z. PMID: 31377974
Fragoulis GE, McInnes IB, Siebert S
Rheumatology (Oxford) 2019 Feb 1;58(Suppl 1):i43-i54. doi: 10.1093/rheumatology/key276. PMID: 30806709Free PMC Article
Nitschke Y, Rutsch F
Curr Osteoporos Rep 2017 Aug;15(4):255-270. doi: 10.1007/s11914-017-0370-3. PMID: 28585220
Volpi S, Picco P, Caorsi R, Candotti F, Gattorno M
Pediatr Rheumatol Online J 2016 Jun 4;14(1):35. doi: 10.1186/s12969-016-0094-4. PMID: 27260006Free PMC Article

Diagnosis

Rivera SS, Boese EA, Dumitrescu A
J AAPOS 2023 Dec;27(6):367-368. Epub 2023 Sep 27 doi: 10.1016/j.jaapos.2023.08.006. PMID: 37769987
Rutsch F, Buers I, Nitschke Y
Arterioscler Thromb Vasc Biol 2021 Jan;41(1):35-47. Epub 2020 Nov 12 doi: 10.1161/ATVBAHA.120.315577. PMID: 33176451
Yu ZX, Song HM
World J Pediatr 2020 Feb;16(1):44-51. Epub 2019 Aug 3 doi: 10.1007/s12519-019-00273-z. PMID: 31377974
Volpi S, Picco P, Caorsi R, Candotti F, Gattorno M
Pediatr Rheumatol Online J 2016 Jun 4;14(1):35. doi: 10.1186/s12969-016-0094-4. PMID: 27260006Free PMC Article
Feigenbaum A, Müller C, Yale C, Kleinheinz J, Jezewski P, Kehl HG, MacDougall M, Rutsch F, Hennekam RC
Am J Med Genet A 2013 Feb;161A(2):360-70. Epub 2013 Jan 15 doi: 10.1002/ajmg.a.35732. PMID: 23322711

Therapy

Yu ZX, Song HM
World J Pediatr 2020 Feb;16(1):44-51. Epub 2019 Aug 3 doi: 10.1007/s12519-019-00273-z. PMID: 31377974
Fragoulis GE, McInnes IB, Siebert S
Rheumatology (Oxford) 2019 Feb 1;58(Suppl 1):i43-i54. doi: 10.1093/rheumatology/key276. PMID: 30806709Free PMC Article

Prognosis

Jang MA, Kim EK, Now H, Nguyen NT, Kim WJ, Yoo JY, Lee J, Jeong YM, Kim CH, Kim OH, Sohn S, Nam SH, Hong Y, Lee YS, Chang SA, Jang SY, Kim JW, Lee MS, Lim SY, Sung KS, Park KT, Kim BJ, Lee JH, Kim DK, Kee C, Ki CS
Am J Hum Genet 2015 Feb 5;96(2):266-74. Epub 2015 Jan 22 doi: 10.1016/j.ajhg.2014.11.019. PMID: 25620203Free PMC Article

Clinical prediction guides

Parra-Izquierdo I, Castaños-Mollor I, López J, Gómez C, San Román JA, Sánchez Crespo M, García-Rodríguez C
Arterioscler Thromb Vasc Biol 2018 Sep;38(9):2148-2159. doi: 10.1161/ATVBAHA.118.311504. PMID: 30026273
Volpi S, Picco P, Caorsi R, Candotti F, Gattorno M
Pediatr Rheumatol Online J 2016 Jun 4;14(1):35. doi: 10.1186/s12969-016-0094-4. PMID: 27260006Free PMC Article
Jang MA, Kim EK, Now H, Nguyen NT, Kim WJ, Yoo JY, Lee J, Jeong YM, Kim CH, Kim OH, Sohn S, Nam SH, Hong Y, Lee YS, Chang SA, Jang SY, Kim JW, Lee MS, Lim SY, Sung KS, Park KT, Kim BJ, Lee JH, Kim DK, Kee C, Ki CS
Am J Hum Genet 2015 Feb 5;96(2):266-74. Epub 2015 Jan 22 doi: 10.1016/j.ajhg.2014.11.019. PMID: 25620203Free 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.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...