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Meretoja syndrome

MedGen UID:
301243
Concept ID:
C1622345
Disease or Syndrome
Synonyms: Amyloid cranial neuropathy with lattice corneal dystrophy; Amyloidosis 5; Amyloidosis due to mutant gelsolin; Amyloidosis Finnish type; Amyloidosis V; Amyloidosis, familial, Finnish type; Lattice corneal dystrophy associated with familial systemic amyloidosis; Lattice dystrophy of the cornea with hereditary generalized amyloidosis; Meretoja type amyloidosis; Meretoja's syndrome
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): GSN (9q33.2)
 
Monarch Initiative: MONDO:0007097
OMIM®: 105120
Orphanet: ORPHA85448

Definition

The Finnish type of systemic amyloidosis is characterized clinically by a unique constellation of features including lattice corneal dystrophy, and cranial neuropathy, bulbar signs, and skin changes. Some patients may develop peripheral neuropathy and renal failure. The disorder is usually inherited in an autosomal dominant pattern; however, homozygotes with a more severe phenotype have also been reported (Meretoja, 1973). [from OMIM]

Additional description

From MedlinePlus Genetics
Lattice corneal dystrophy type II is characterized by an accumulation of protein clumps called amyloid deposits in tissues throughout the body. The deposits frequently occur in blood vessel walls and basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. Amyloid deposits lead to characteristic signs and symptoms involving the eyes, nerves, and skin that worsen with age.\n\nThe earliest sign of this condition, which is usually identified in a person's twenties, is accumulation of amyloid deposits in the cornea (lattice corneal dystrophy). The cornea is the clear, outer covering of the eye. It is made up of several layers of tissue, and in lattice corneal dystrophy type II, the amyloid deposits form in the stromal layer. The amyloid deposits form as delicate, branching fibers that create a lattice pattern. Because these protein deposits cloud the cornea, they often lead to vision impairment. In addition, affected individuals can have recurrent corneal erosions, which are caused by separation of particular layers of the cornea from one another. Corneal erosions are very painful and can cause sensitivity to bright light (photophobia). Amyloid deposits and corneal erosions are usually bilateral, which means they affect both eyes.\n\nAs lattice corneal dystrophy type II progresses, the nerves become involved, typically starting in a person's forties. It is thought that the amyloid deposits disrupt nerve function. Dysfunction of the nerves in the head and face (cranial nerves) can cause paralysis of facial muscles (facial palsy); decreased sensations in the face (facial hypoesthesia); and difficulty speaking, chewing, and swallowing. Dysfunction of the nerves that connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, and heat (peripheral nerves) can cause loss of sensation and weakness in the limbs (peripheral neuropathy). Peripheral neuropathy usually occurs in the lower legs and arms, leading to muscle weakness, clumsiness, and difficulty sensing vibrations.\n\nThe skin is also commonly affected in people with lattice corneal dystrophy type II, typically beginning in a person's forties. People with this condition may have thickened, sagging skin, especially on the scalp and forehead, and a condition called cutis laxa, which is characterized by loose skin that lacks elasticity. The skin can also be dry and itchy. Because of loose skin and muscle paralysis in the face, individuals with lattice corneal dystrophy type II can have a facial expression that appears sad.  https://medlineplus.gov/genetics/condition/lattice-corneal-dystrophy-type-ii

Clinical features

From HPO
Nephrotic syndrome
MedGen UID:
10308
Concept ID:
C0027726
Disease or Syndrome
Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Cardiomyopathy
MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Abnormal abdomen morphology
MedGen UID:
866551
Concept ID:
C4020869
Anatomical Abnormality
A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.
Polyneuropathy
MedGen UID:
57502
Concept ID:
C0152025
Disease or Syndrome
A generalized disorder of peripheral nerves.
Bulbar palsy
MedGen UID:
898626
Concept ID:
C4082299
Disease or Syndrome
Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia.
Cardiac amyloidosis
MedGen UID:
488730
Concept ID:
C0268407
Disease or Syndrome
Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.
Generalized amyloid deposition
MedGen UID:
354872
Concept ID:
C1862968
Finding
A diffuse form of amyloidosis.
Cutis laxa
MedGen UID:
8206
Concept ID:
C0010495
Disease or Syndrome
Wrinkled, redundant, inelastic and sagging skin.
Lattice corneal dystrophy
MedGen UID:
56355
Concept ID:
C0155127
Disease or Syndrome
The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMeretoja syndrome
Follow this link to review classifications for Meretoja syndrome in Orphanet.

Recent clinical studies

Etiology

Schmidt EK, Mustonen T, Kiuru-Enari S, Kivelä TT, Atula S
Orphanet J Rare Dis 2020 Jan 17;15(1):19. doi: 10.1186/s13023-020-1300-5. PMID: 31952544Free PMC Article
Lehmonen L, Kaasalainen T, Atula S, Mustonen T, Holmström M
Int J Cardiovasc Imaging 2019 Feb;35(2):351-358. Epub 2019 Mar 8 doi: 10.1007/s10554-019-01570-4. PMID: 30848402Free PMC Article
Mattila JS, Krootila K, Kivelä T, Holopainen JM
Ophthalmology 2015 Mar;122(3):457-63. Epub 2014 Nov 13 doi: 10.1016/j.ophtha.2014.09.035. PMID: 25444639
Mahalka AK, Maury CP, Kinnunen PK
Biochemistry 2011 Jun 7;50(22):4877-89. Epub 2011 May 13 doi: 10.1021/bi200195s. PMID: 21545139

Diagnosis

Galindo-Bocero J, García-Martínez I, Portillo M, Hernando Acero I, García-González N
Arch Soc Esp Oftalmol (Engl Ed) 2022 Oct;97(10):583-586. Epub 2022 Sep 13 doi: 10.1016/j.oftale.2022.08.004. PMID: 36114141
Potrč M, Volk M, de Rosa M, Pižem J, Teran N, Jaklič H, Maver A, Drnovšek-Olup B, Bollati M, Vogelnik K, Hočevar A, Gornik A, Pfeifer V, Peterlin B, Hawlina M, Fakin A
Int J Mol Sci 2021 Jan 22;22(3) doi: 10.3390/ijms22031084. PMID: 33499149Free PMC Article
Cabral-Macias J, Garcia-Montaño LA, Pérezpeña-Díazconti M, Aguilar MC, Garcia G, Vencedor-Meraz CI, Graue-Hernandez EO, Chacón-Camacho OF, Zenteno JC
Mol Vis 2020;26:345-354. Epub 2020 May 2 PMID: 32368002Free PMC Article
Lehmonen L, Kaasalainen T, Atula S, Mustonen T, Holmström M
Int J Cardiovasc Imaging 2019 Feb;35(2):351-358. Epub 2019 Mar 8 doi: 10.1007/s10554-019-01570-4. PMID: 30848402Free PMC Article
Wreden AB, Fernandes L, Kelley M, Pereira-Neves A, Moreira CS, da Rocha DR, Palhano FL
ACS Chem Neurosci 2018 Nov 21;9(11):2807-2814. Epub 2018 May 31 doi: 10.1021/acschemneuro.8b00222. PMID: 29762014

Therapy

Sethi S, Dasari S, Amin MS, Vrana JA, Theis JD, Alexander MP, Kurtin PJ
Kidney Int 2017 Apr;91(4):964-971. Epub 2017 Jan 29 doi: 10.1016/j.kint.2016.11.017. PMID: 28139293
Solomon JP, Page LJ, Balch WE, Kelly JW
Crit Rev Biochem Mol Biol 2012 May-Jun;47(3):282-96. Epub 2012 Feb 24 doi: 10.3109/10409238.2012.661401. PMID: 22360545Free PMC Article
Pradhan MA, Henderson RA, Patel D, McGhee CN, Vincent AL
Cornea 2011 Oct;30(10):1163-6. doi: 10.1097/ICO.0b013e31821142b5. PMID: 21743312

Prognosis

Mullany S, Souzeau E, Klebe S, Zhou T, Knight LSW, Qassim A, Berry EC, Marshall H, Hussey M, Dubowsky A, Breen J, Hassall MM, Mills RA, Craig JE, Siggs OM
Hum Mutat 2021 Jul;42(7):818-826. Epub 2021 May 11 doi: 10.1002/humu.24214. PMID: 33973672
Cabral-Macias J, Garcia-Montaño LA, Pérezpeña-Díazconti M, Aguilar MC, Garcia G, Vencedor-Meraz CI, Graue-Hernandez EO, Chacón-Camacho OF, Zenteno JC
Mol Vis 2020;26:345-354. Epub 2020 May 2 PMID: 32368002Free PMC Article
Lehmonen L, Kaasalainen T, Atula S, Mustonen T, Holmström M
Int J Cardiovasc Imaging 2019 Feb;35(2):351-358. Epub 2019 Mar 8 doi: 10.1007/s10554-019-01570-4. PMID: 30848402Free PMC Article
Sethi S, Dasari S, Amin MS, Vrana JA, Theis JD, Alexander MP, Kurtin PJ
Kidney Int 2017 Apr;91(4):964-971. Epub 2017 Jan 29 doi: 10.1016/j.kint.2016.11.017. PMID: 28139293
Nikoskinen T, Schmidt EK, Strbian D, Kiuru-Enari S, Atula S
Ann Med 2015;47(6):506-11. Epub 2015 Sep 4 doi: 10.3109/07853890.2015.1075063. PMID: 26339870

Clinical prediction guides

Mullany S, Souzeau E, Klebe S, Zhou T, Knight LSW, Qassim A, Berry EC, Marshall H, Hussey M, Dubowsky A, Breen J, Hassall MM, Mills RA, Craig JE, Siggs OM
Hum Mutat 2021 Jul;42(7):818-826. Epub 2021 May 11 doi: 10.1002/humu.24214. PMID: 33973672
Cabral-Macias J, Garcia-Montaño LA, Pérezpeña-Díazconti M, Aguilar MC, Garcia G, Vencedor-Meraz CI, Graue-Hernandez EO, Chacón-Camacho OF, Zenteno JC
Mol Vis 2020;26:345-354. Epub 2020 May 2 PMID: 32368002Free PMC Article
Lehmonen L, Kaasalainen T, Atula S, Mustonen T, Holmström M
Int J Cardiovasc Imaging 2019 Feb;35(2):351-358. Epub 2019 Mar 8 doi: 10.1007/s10554-019-01570-4. PMID: 30848402Free PMC Article
Wreden AB, Fernandes L, Kelley M, Pereira-Neves A, Moreira CS, da Rocha DR, Palhano FL
ACS Chem Neurosci 2018 Nov 21;9(11):2807-2814. Epub 2018 May 31 doi: 10.1021/acschemneuro.8b00222. PMID: 29762014
Rothstein A, Auran JD, Wittpenn JR, Koester CJ, Florakis GJ
Cornea 2002 May;21(4):364-7. doi: 10.1097/00003226-200205000-00007. PMID: 11973384

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