MCID: LTT008
MIFTS: 26

Lattice Corneal Dystrophy Type Ii

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Lattice Corneal Dystrophy Type Ii

MalaCards integrated aliases for Lattice Corneal Dystrophy Type Ii:

Name: Lattice Corneal Dystrophy Type Ii 43 71
Meretoja Syndrome 43 29 6 71
Amyloid Cranial Neuropathy with Lattice Corneal Dystrophy 43
Lattice Corneal Dystrophy, Gelsolin Type 43
Familial Amyloid Polyneuropathy Type Iv 43
Amyloidosis Due to Mutant Gelsolin 43
Familial Amyloidosis, Finnish Type 43
Gelsolin-Related Amyloidosis 43
Amyloidosis, Meretoja Type 43
Amyloidosis, Finnish Type 43
Kymenlaakso Syndrome 43
Amyloidosis V 43

Classifications:



External Ids:

UMLS 71 C1622345 C1628319

Summaries for Lattice Corneal Dystrophy Type Ii

MedlinePlus Genetics : 43 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.The 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.As 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.The 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.

MalaCards based summary : Lattice Corneal Dystrophy Type Ii, also known as meretoja syndrome, is related to amyloidosis, finnish type and familial amyloidosis, finnish type. An important gene associated with Lattice Corneal Dystrophy Type Ii is GSN (Gelsolin). Affiliated tissues include skin, eye and spinal cord.

Related Diseases for Lattice Corneal Dystrophy Type Ii

Diseases in the Lattice Corneal Dystrophy family:

Corneal Dystrophy, Lattice Type I Corneal Dystrophy, Lattice Type Iiia
Lattice Corneal Dystrophy Type Ii

Diseases related to Lattice Corneal Dystrophy Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 amyloidosis, finnish type 11.8
2 familial amyloidosis, finnish type 11.6
3 lattice corneal dystrophy 11.4
4 corneal dystrophy 10.6
5 amyloidosis 10.5
6 polyneuropathy 10.4
7 recurrent corneal erosion 10.3
8 hereditary amyloidosis 10.3
9 keratitis, hereditary 10.3
10 facial paralysis 10.3
11 corneal dystrophy, gelatinous drop-like 10.2
12 cataract 10.2
13 pure autonomic failure 10.2
14 peripheral nervous system disease 10.1
15 fainting 10.1
16 macroglossia 10.0
17 neurilemmoma 10.0
18 hypersomnia 10.0
19 open-angle glaucoma 10.0
20 amyloidosis, hereditary, transthyretin-related 9.9
21 carpal tunnel syndrome 9.9
22 seizures, benign familial neonatal, 1 9.9
23 helix syndrome 9.9
24 anhidrosis 9.9
25 autonomic neuropathy 9.9
26 nephrotic syndrome 9.9
27 cutis laxa 9.9
28 blepharochalasis 9.9
29 kidney disease 9.9
30 neuropathy 9.9
31 lichen amyloidosis 9.9
32 eye disease 9.8

Graphical network of the top 20 diseases related to Lattice Corneal Dystrophy Type Ii:



Diseases related to Lattice Corneal Dystrophy Type Ii

Symptoms & Phenotypes for Lattice Corneal Dystrophy Type Ii

Drugs & Therapeutics for Lattice Corneal Dystrophy Type Ii

Search Clinical Trials , NIH Clinical Center for Lattice Corneal Dystrophy Type Ii

Genetic Tests for Lattice Corneal Dystrophy Type Ii

Genetic tests related to Lattice Corneal Dystrophy Type Ii:

# Genetic test Affiliating Genes
1 Meretoja Syndrome 29 GSN

Anatomical Context for Lattice Corneal Dystrophy Type Ii

MalaCards organs/tissues related to Lattice Corneal Dystrophy Type Ii:

40
Skin, Eye, Spinal Cord

Publications for Lattice Corneal Dystrophy Type Ii

Articles related to Lattice Corneal Dystrophy Type Ii:

(show all 35)
# Title Authors PMID Year
1
Amyloidosis due to a mutation of the gelsolin gene in an American family with lattice corneal dystrophy type II. 61 6
1658654 1991
2
Database for the mutations of the Finnish disease heritage. 6
11754099 2002
3
Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV). 6
7868127 1995
4
Haplotype analysis in gelsolin-related amyloidosis reveals independent origin of identical mutation (G654A) of gelsolin in Finland and Japan. 6
7550233 1995
5
Inherited amyloid polyneuropathy type IV (gelsolin variant) in a Japanese family. 6
8388189 1993
6
Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family. 6
1322359 1992
7
Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease. 6
1322360 1992
8
Solid-phase minisequencing test reveals Asp187----Asn (G654----A) mutation of gelsolin in all affected individuals with Finnish type of familial amyloidosis. 6
1315718 1992
9
Gelsolin gene mutation--at codon 187--in familial amyloidosis, Finnish: DNA-diagnostic assay. 6
1311149 1992
10
Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families. 6
1652889 1991
11
Immunohistochemical localization of amyloid in Finnish hereditary amyloidosis with antibodies to gelsolin peptides. 6
1848334 1991
12
Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type. 6
2176481 1990
13
Mutation in gelsolin gene in Finnish hereditary amyloidosis. 6
2175344 1990
14
Isolation and characterization of cardiac amyloid in familial amyloid polyneuropathy type IV (Finnish): relation of the amyloid protein to variant gelsolin. 6
2176550 1990
15
Finnish hereditary amyloidosis. Amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline. 6
2153578 1990
16
Lattice corneal dystrophy associated with familial systemic amyloidosis (Meretoja's syndrome). 6
6610849 1983
17
Three forms of dominant amyloid neuropathy. 6
6975851 1981
18
Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy. 6
4543600 1973
19
Contact lens induced bacterial keratitis in LCD II: Management and multimodal imaging: a case report and review of literature. 61
33124478 2020
20
Clinical, histopathological, and in silico pathogenicity analyses in a pedigree with familial amyloidosis of the Finnish type (Meretoja syndrome) caused by a novel gelsolin mutation. 61
32368002 2020
21
Meretoja Syndrome: General Considerations and Contributions of Plastic Surgery in Surgical Treatment. 61
29149274 2017
22
The First Argentinian Family with Familial Amyloidosis of the Finnish Type. 61
28924445 2017
23
[Meretoja syndrome: Identification of a family and description of the corneal involvement by confocal microscopy]. 61
25913657 2015
24
[The revised newest IC³D classification of corneal dystrophies]. 61
25803558 2015
25
Corneal melt in lattice corneal dystrophy type II after cataract surgery. 61
19101443 2009
26
Lattice corneal dystrophy type II: clinical, pathologic, and molecular study in a Spanish family. 61
17534828 2007
27
[Corneal dystrophies in the light of modern molecular genetic research]. 61
12125408 2002
28
Confocal microscopy in Meretoja syndrome. 61
11973384 2002
29
Corneal morphology and sensitivity in lattice dystrophy type II (familial amyloidosis, Finnish type). 61
11222521 2001
30
Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family. 61
10729296 2000
31
Lattice corneal dystrophy type II associated with familial amyloid polyneuropathy type IV. 61
8684801 1996
32
[Lattice corneal dystrophy type II with familial amyloid polyneuropathy type IV]. 61
8285156 1993
33
Lattice corneal dystrophy type II with familial amyloid polyneuropathy type IV. 61
8145387 1993
34
Clinical and histopathologic studies of two families with lattice corneal dystrophy and familial systemic amyloidosis (Meretoja syndrome). 61
1923356 1991
35
Meretoja syndrome. Lattice dystrophy of the cornea with hereditary generalized amyloidosis. 61
314081 1979

Variations for Lattice Corneal Dystrophy Type Ii

ClinVar genetic disease variations for Lattice Corneal Dystrophy Type Ii:

6 (show top 50) (show all 79)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GSN NM_198252.3(GSN):c.487G>A (p.Asp163Asn) SNV Pathogenic 16180 rs121909715 9:124073097-124073097 9:121310819-121310819
2 GSN NM_198252.3(GSN):c.487G>T (p.Asp163Tyr) SNV Pathogenic 16181 rs121909715 9:124073097-124073097 9:121310819-121310819
3 GSN NM_001127666.2(GSN):c.-47-119C>T SNV Uncertain significance 915112 9:124062215-124062215 9:121299937-121299937
4 GSN NM_001127666.2(GSN):c.*28G>A SNV Uncertain significance 915197 9:124094909-124094909 9:121332631-121332631
5 GSN NM_198252.3(GSN):c.1037G>A (p.Arg346Gln) SNV Uncertain significance 364807 rs372681751 9:124081004-124081004 9:121318726-121318726
6 GSN NM_198252.3(GSN):c.-9-2137C>T SNV Uncertain significance 364794 rs886063404 9:124062104-124062104 9:121299826-121299826
7 GSN NM_198252.3(GSN):c.1324T>C (p.Trp442Arg) SNV Uncertain significance 984957 9:124083678-124083678 9:121321400-121321400
8 GSN NM_198252.3(GSN):c.1585G>A (p.Glu529Lys) SNV Uncertain significance 930592 9:124088958-124088958 9:121326680-121326680
9 GSN NM_001127666.2(GSN):c.473T>C (p.Val158Ala) SNV Uncertain significance 913532 9:124073050-124073050 9:121310772-121310772
10 GSN NM_001127666.2(GSN):c.542G>C (p.Gly181Ala) SNV Uncertain significance 913533 9:124073119-124073119 9:121310841-121310841
11 GSN NM_001127666.2(GSN):c.1580A>G (p.Gln527Arg) SNV Uncertain significance 913570 9:124088920-124088920 9:121326642-121326642
12 GSN NM_001127666.2(GSN):c.*98T>A SNV Uncertain significance 912486 9:124094979-124094979 9:121332701-121332701
13 GSN NM_001127666.2(GSN):c.1690C>G (p.Leu564Val) SNV Uncertain significance 913572 9:124089655-124089655 9:121327377-121327377
14 GSN NM_001127666.2(GSN):c.919+12A>C SNV Uncertain significance 913913 9:124079508-124079508 9:121317230-121317230
15 GSN NM_001127666.2(GSN):c.947A>G (p.Lys316Arg) SNV Uncertain significance 913914 9:124080711-124080711 9:121318433-121318433
16 GSN NM_001127666.2(GSN):c.1031G>T (p.Gly344Val) SNV Uncertain significance 913915 9:124080965-124080965 9:121318687-121318687
17 GSN NM_001127666.2(GSN):c.30C>G (p.Asn10Lys) SNV Uncertain significance 915114 9:124064246-124064246 9:121301968-121301968
18 GSN NM_001127666.2(GSN):c.*126T>C SNV Uncertain significance 364840 rs886063411 9:124095007-124095007 9:121332729-121332729
19 GSN NM_001127666.2(GSN):c.*205G>A SNV Uncertain significance 364843 rs779431879 9:124095086-124095086 9:121332808-121332808
20 GSN NM_001127666.2(GSN):c.-47-159_-47-153del Deletion Uncertain significance 632532 rs1564468965 9:124062173-124062179 9:121299895-121299901
21 GSN NM_001127666.2(GSN):c.-47-114G>A SNV Uncertain significance 364795 rs886063405 9:124062220-124062220 9:121299942-121299942
22 GSN NM_001127666.2(GSN):c.579T>G (p.Asn193Lys) SNV Uncertain significance 364804 rs752698745 9:124074649-124074649 9:121312371-121312371
23 GSN NM_001127666.2(GSN):c.*185G>A SNV Uncertain significance 364841 rs757682798 9:124095066-124095066 9:121332788-121332788
24 GSN NM_001127666.2(GSN):c.1975A>G (p.Met659Val) SNV Uncertain significance 364827 rs886063406 9:124091570-124091570 9:121329292-121329292
25 GSN NM_001127666.2(GSN):c.1586G>A (p.Arg529His) SNV Uncertain significance 364819 rs769400986 9:124088926-124088926 9:121326648-121326648
26 GSN NM_001127666.2(GSN):c.*194G>A SNV Uncertain significance 364842 rs886063412 9:124095075-124095075 9:121332797-121332797
27 GSN NM_001127666.2(GSN):c.2035G>A (p.Glu679Lys) SNV Uncertain significance 364828 rs886063407 9:124093702-124093702 9:121331424-121331424
28 GSN NM_001127666.2(GSN):c.40G>T (p.Val14Leu) SNV Uncertain significance 912416 9:124064256-124064256 9:121301978-121301978
29 GSN NM_001127666.2(GSN):c.261G>A (p.Ala87=) SNV Uncertain significance 912418 9:124065220-124065220 9:121302942-121302942
30 GSN NM_001127666.2(GSN):c.159C>T (p.Asp53=) SNV Likely benign 912417 9:124064375-124064375 9:121302097-121302097
31 GSN NM_001127666.2(GSN):c.1610G>A (p.Arg537Gln) SNV Likely benign 364822 rs528604896 9:124088950-124088950 9:121326672-121326672
32 GSN NM_001127666.2(GSN):c.756G>A (p.Ala252=) SNV Likely benign 364805 rs377624593 9:124076271-124076271 9:121313993-121313993
33 GSN NM_001127666.2(GSN):c.156C>T (p.Gly52=) SNV Likely benign 364797 rs774617795 9:124064372-124064372 9:121302094-121302094
34 GSN NM_001127666.2(GSN):c.2078C>T (p.Thr693Met) SNV Likely benign 915194 9:124094730-124094730 9:121332452-121332452
35 GSN NM_001127666.2(GSN):c.2093G>A (p.Arg698Gln) SNV Likely benign 915195 9:124094745-124094745 9:121332467-121332467
36 GSN NM_001127666.2(GSN):c.460G>A (p.Gly154Arg) SNV Likely benign 913531 9:124073037-124073037 9:121310759-121310759
37 GSN NM_001127666.2(GSN):c.1684G>A (p.Ala562Thr) SNV Likely benign 913571 9:124089649-124089649 9:121327371-121327371
38 GSN NM_001127666.2(GSN):c.580C>T (p.Arg194Trp) SNV Benign 913911 9:124074650-124074650 9:121312372-121312372
39 GSN NM_001127666.2(GSN):c.787-11C>T SNV Benign 913912 9:124079353-124079353 9:121317075-121317075
40 GSN NM_001127666.2(GSN):c.2102G>A (p.Arg701Gln) SNV Benign 915196 9:124094754-124094754 9:121332476-121332476
41 GSN NM_001127666.2(GSN):c.1760C>G (p.Ala587Gly) SNV Benign 913954 9:124089725-124089725 9:121327447-121327447
42 GSN NM_001127666.2(GSN):c.1907T>C (p.Ile636Thr) SNV Benign 913955 9:124091280-124091280 9:121329002-121329002
43 GSN NM_198252.3(GSN):c.1191+4C>T SNV Benign 364810 rs372713895 9:124081162-124081162 9:121318884-121318884
44 GSN NM_198252.3(GSN):c.1225G>A (p.Val409Met) SNV Benign 364811 rs140042418 9:124083579-124083579 9:121321301-121321301
45 GSN NM_198252.3(GSN):c.1098G>A (p.Val366=) SNV Benign 364808 rs201325199 9:124081065-124081065 9:121318787-121318787
46 GSN NM_198252.3(GSN):c.1009C>T (p.Leu337=) SNV Benign 741993 rs528161256 9:124080976-124080976 9:121318698-121318698
47 GSN NM_198252.3(GSN):c.1171G>A (p.Asp391Asn) SNV Benign 976634 9:124081138-124081138 9:121318860-121318860
48 GSN NM_198252.3(GSN):c.1191+14G>A SNV Benign 976635 9:124081172-124081172 9:121318894-121318894
49 GSN NM_001127666.2(GSN):c.1476C>T (p.Pro492=) SNV Benign 760573 rs200156774 9:124088816-124088816 9:121326538-121326538
50 GSN NM_001127666.2(GSN):c.571A>G (p.Asn191Asp) SNV Benign 780823 rs11550199 9:124074641-124074641 9:121312363-121312363

Expression for Lattice Corneal Dystrophy Type Ii

Search GEO for disease gene expression data for Lattice Corneal Dystrophy Type Ii.

Pathways for Lattice Corneal Dystrophy Type Ii

GO Terms for Lattice Corneal Dystrophy Type Ii

Sources for Lattice Corneal Dystrophy Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....