Create issue ticket

175 Possible Causes for Meretoja, Syndrome

  • Hereditary Gelsolin Amyloidosis

    Here, we present a case of sicca syndrome, originally diagnosed as primary Sjögren's syndrome (SS) but later found to represent an initial disease manifestation of AGel amyloidosis[ncbi.nlm.nih.gov] Abstract Hereditary gelsolin amyloidosis is an autosomally dominantly inherited systemic disease, first described in 1969 by the Finnish ophthalmologist Jouko Meretoja.[ncbi.nlm.nih.gov] Keywords Congo red Gelsolin Hereditary amyloidosis Sicca syndrome Sjögren's syndrome This is a preview of subscription content, log in to check access.[link.springer.com]

  • Li-Fraumeni Syndrome

    Primary localized cutaneous amyloidosis amyloidosis V , see Lattice corneal dystrophy type II amyloidosis, Finnish type , see Lattice corneal dystrophy type II amyloidosis, Meretoja[ghr.nlm.nih.gov] SBLA syndrome sarcoma, breast, leukaemia and adrenal gland syndrome Li-Fraumeni Familial Cancer Susceptibility Syndrome Li-Fraumeni Syndrome edit English Li-Fraumeni syndrome[wikidata.org] The diagnosis of Li-Fraumeni syndrome may be difficult to attain without clinical suspicion.[symptoma.com]

  • Malpuech Syndrome

    Those similarities lead us to postulate that they belong to the same spectrum, which could be referred to as "3MC syndrome" (Malpuech-Michels-Mingarelli-Carnevale syndrome[ncbi.nlm.nih.gov] Allan-Herndon-Dudley syndrome mental retardation-overgrowth syndrome , see Simpson-Golabi-Behmel syndrome MEPOP , see mitochondrial neurogastrointestinal encephalopathy disease Meretoja[herenciageneticayenfermedad.blogspot.com] Those similarities lead us to postulate that they belong to the same spectrum, which could be referred to as “3MC syndrome” (Malpuech‐Michels‐Mingarelli‐Carnevale syndrome[doi.org]

  • De Barsy Moens Diercks Syndrome

    […] disease with lattice corneal dystrophy Manso nel losis Progeroid syndrome of De Barsy Corneal clouding cutis laxa mental ophthalmoplegia Cholestasis lymphedema syndrome Meretoja[yumpu.com] Prognosis - De Barsy syndrome Not supplied. Treatment - De Barsy syndrome Not supplied. Resources - De Barsy syndrome Not supplied.[checkorphan.org] Hutterite syndrome Bowen-Conradi syndrome Bowen-Conradi syndrome (disorder) Christianson syndrome Cohen syndrome Cohen syndrome (disorder) Costello syndrome Costello syndrome[averbis.com]

  • Winchester Syndrome

    Winchester syndrome (WS) is a part of an inheritable group of disorders called osteolysis syndromes.[symptoma.com] […] syndrome , see L1 syndrome mental retardation-overgrowth syndrome , see Simpson-Golabi-Behmel syndrome MEPOP , see mitochondrial neurogastrointestinal encephalopathy disease Meretoja[herenciageneticayenfermedad.blogspot.com] Torg syndrome is a multicentric osteolysis syndrome of unknown etiology.[ncbi.nlm.nih.gov]

  • Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome

    It has been estimated that Gillespie syndrome accounts for about 2 percent of cases of aniridia . Gillespie syndrome is caused by mutations in the ITPR1 gene.[ghr.nlm.nih.gov] […] primary localized cutaneous amyloidosis amyloidosis V, see lattice corneal dystrophy type II amyloidosis, Finnish type, see lattice corneal dystrophy type II amyloidosis, Meretoja[mygenomics.com] "Cerebellar cognitive affective syndrome without global mental retardation in two relatives with Gillespie syndrome".[en.wikipedia.org]

  • Trichorhinophalangeal Dysplasia Type 1

    Langer-Giedion syndrome.[ncbi.nlm.nih.gov] FRDA Friedreich ataxia FRDA FSHD Fumarylacetoacetase deficiency Galactosaemia -- Gaucher disease Morbus Gaucher Gelsolin amyloidosis Familial amyloid neuropathy type IV, Meretoja[socialstyrelsen.se] Syndromes with supernumerary teeth.[ncbi.nlm.nih.gov]

  • Auriculocondylar Syndrome

    So far, pathogenic variants in PLCB4, GNAI3, and EDN1 have been associated with this syndrome.[ncbi.nlm.nih.gov] […] see lattice corneal dystrophy type II amyloidosis V , see lattice corneal dystrophy type II amyloidosis, Finnish type , see lattice corneal dystrophy type II amyloidosis, Meretoja[herenciageneticayenfermedad.blogspot.com] Auriculocondylar syndrome (ACS) is a branchial arch syndrome typically inherited in an autosomal dominant fashion.[ncbi.nlm.nih.gov]

  • Nakajo Syndrome

    Nakajo syndrome, also called nodular erythema with digital changes, [1] is a rare autosomal recessive congenital disorder first reported in 1939 by A.[en.wikipedia.org] […] primary localized cutaneous amyloidosis amyloidosis V, see lattice corneal dystrophy type II amyloidosis, Finnish type, see lattice corneal dystrophy type II amyloidosis, Meretoja[mygenomics.com] […] periodic syndrome (see these terms).[orpha.net]

  • Mirhosseini-Holmes-Walton Syndrome

    Vogel , Tapetoretinal degeneration in brothers with apparent Cohen syndrome: Nosology with Mirhosseini‐Holmes‐Walton syndrome , American Journal of Medical Genetics , 41 ,[doi.org] […] habitus Mental retardation, X linked, nonspecific Mental retardation, X-linked 14 Mental retardation-polydactyly-uncombable hair Mer–Mes Mercury poisoning (Mercurialism) Meretoja[sosu.us] Homepage Rare diseases Search Search for a rare disease Mirhosseini-Holmes-Walton syndrome ORPHA:3084 Synonym(s): Pigmentary retinopathy-intellectual disability syndrome Prevalence[orpha.net]

Further symptoms