MCID: AMY060
MIFTS: 47

Amyloidosis, Primary Localized Cutaneous, 1 malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Metabolic diseases

Aliases & Classifications for Amyloidosis, Primary Localized Cutaneous, 1

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Aliases & Descriptions for Amyloidosis, Primary Localized Cutaneous, 1:

Name: Amyloidosis, Primary Localized Cutaneous, 1 52 70 12
Primary Cutaneous Amyloidosis 11 48 70 13
Amyloidosis Ix 48 24 70
Familial Primary Localized Cutaneous Amyloidosis 11 54
Amyloidosis, Primary Localized Cutaneous 1 24 27
Primary Localized Cutaneous Amyloidosis 48 70
Amyloidosis, Primary Cutaneous 50 68
Familial Lichen Amyloidosis 70 68
Plca1 24 70
 
Plca 48 70
Pca 11 70
Amyloidosis Familial Cutaneous Lichen 48
Lichen Amyloidosis, Familial 24
Lichen Amyloidosis Familial 48
Amyloidosis Type 9 70
Amyloidosis 9 48
Fplca 54

Characteristics:

Orphanet epidemiological data:

54
familial primary localized cutaneous amyloidosis:
Inheritance: Autosomal dominant; Age of onset: All ages

HPO:

64
amyloidosis, primary localized cutaneous, 1:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset

Classifications:

Orphanet: 54 
Rare skin diseases


External Ids:

OMIM52 105250
Disease Ontology11 DOID:0050639
Orphanet54 ORPHA353220
ICD10 via Orphanet31 E85.4+, L99.0*
MeSH39 D028226

Summaries for Amyloidosis, Primary Localized Cutaneous, 1

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NIH Rare Diseases:48 Primary cutaneous amyloidosis is a form of amyloidosis, a group of conditions in which an abnormal protein (called amyloid) builds up in various organs and tissues throughout the body. In primary cutaneous amyloidosis, specifically, this protein accumulates in the skin. There are three main forms of primary cutaneous amyloidosis:Lichen amyloidosis - multiple itchy, raised spots which are scaly and red/brown in color. This rash generally affects the shins, thighs, feet and forearms. Macular amyloidosis - mild to severely itchy, flat, dusky-brown or greyish colored spots that may come together to form patches of darkened skin. This rash generally appears on the upper back between the shoulder blades, the chest and less commonly, the arms. Nodular amyloidosis - asymptomatic firm bumps that may be pinkish-brown to red in color. This rash may occur on the trunk, limbs, face, and/or genitals. The exact underlying cause of primary cutaneous amyloidosis is poorly understood. It is sometimes associated with other conditions such as atopic dermatitis, sarcoidosis, and psoriasis. Although most cases occur sporadically in people with no family history of the condition, there are rare familial forms caused by changes (mutations) in the OSMR or IL31RA gene. Treatment is based on the signs and symptoms present in each person and may include surgery to remove amyloid deposits and/or certain medications to relieve itching. Last updated: 3/29/2016

MalaCards based summary: Amyloidosis, Primary Localized Cutaneous, 1, also known as primary cutaneous amyloidosis, is related to posterior cortical atrophy and pigmentary disorder, reticulate, with systemic manifestations, and has symptoms including cutis laxa, pruritus and lattice corneal dystrophy. An important gene associated with Amyloidosis, Primary Localized Cutaneous, 1 is OSMR (Oncostatin M Receptor), and among its related pathways are G13 Signaling Pathway and Calcineurin-regulated NFAT-dependent transcription in lymphocytes. Affiliated tissues include skin and liver.

Disease Ontology:11 An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis.

OMIM:52 Primary localized cutaneous amyloidosis is characterized clinically by pruritus and skin scratching and histologically... (105250) more...

UniProtKB/Swiss-Prot:70 Amyloidosis, primary localized cutaneous, 1: A primary amyloidosis characterized by localized cutaneous amyloid deposition. This condition usually presents with itching (especially on the lower legs) and visible changes of skin hyperpigmentation and thickening that may be exacerbated by chronic scratching and rubbing. Primary localized cutaneous amyloidosis is often divided into macular and lichen subtypes although many affected individuals often show both variants coexisting. Lichen amyloidosis characteristically presents as a pruritic eruption of grouped hyperkeratotic papules with a predilection for the shins, calves, ankles and dorsa of feet and thighs. Papules may coalesce to form hyperkeratotic plaques that can resemble lichen planus, lichen simplex or nodular prurigo. Macular amyloidosis is characterized by small pigmented macules that may merge to produce macular hyperpigmentation, sometimes with a reticulate or rippled pattern. In macular and lichen amyloidosis, amyloid is deposited in the papillary dermis in association with grouped colloid bodies, thought to represent degenerate basal keratinocytes. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins.

Wikipedia:71 Primary cutaneous amyloidosis is a form of amyloidosis associated with oncostatin M receptor. This type... more...

Related Diseases for Amyloidosis, Primary Localized Cutaneous, 1

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Diseases in the Amyloidosis, Primary Localized Cutaneous, 1 family:

Amyloidosis, Primary Localized Cutaneous, 2

Diseases related to Amyloidosis, Primary Localized Cutaneous, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1posterior cortical atrophy11.7
2pigmentary disorder, reticulate, with systemic manifestations11.0
3amyloidosis, primary localized cutaneous, 210.9
4choanal atresia, posterior10.8
5nodular cutaneous amyloidosis10.5IL31RA, OSMR
6carotid stenosis10.5CALM1, CALM2, CALM3
7long qt syndrome 1410.5CALM1, CALM2, CALM3
8amyloidosis10.5
9long qt syndrome 1510.5CALM1, CALM2, CALM3
10bleeding disorder, platelet-type, 1510.5CALM1, CALM2, CALM3
11porokeratosis10.5CALM1, CALM2, CALM3
12regional ureteric cancer10.5CALM1, CALM2, CALM3
13meningitis10.5CALM1, CALM2, CALM3
14pseudohypoaldosteronism, type iic10.5CALM1, CALM2, CALM3
15keratosis palmoplantaris striata10.5IL31RA, OSMR
16blind hypertensive eye10.4CALM1, CALM2, CALM3
17pontiac fever10.4CALM1, CALM2, CALM3
18childhood brain germinoma10.4CALM1, CALM2, CALM3
19esophagus leiomyoma10.4CALM1, CALM2, CALM3
20alkhurma hemorrhagic fever10.4CALM1, CALM2, CALM3
21peritoneum cancer10.4CALM1, CALM2, CALM3
22paraurethral gland cancer10.4CALM1, CALM2, CALM3
23sult4a1-related altered drug metabolism10.4CALM1, CALM2, CALM3
24pituitary apoplexy10.4TNNI3, XK
25cerebral cavernous malformation, familial10.3CALM1, CALM2, CALM3
26anxiety disorder10.3CALM1, CALM2, CALM3, XK
27prostate cancer10.3
28prostatitis10.3
29umbilical hernia10.2CALM1, CALM2, CALM3
30cardiomyopathy, familial hypertrophic10.0MYLK, TNNI3, TTN
31gemistocytic astrocytoma9.9TNNI3, WDTC1, XK
32moyamoya disease9.9
33cerebritis9.9
34myopia 24, autosomal dominant9.8MGAM, WDTC1
35primary biliary cirrhosis9.7
36pleurisy9.7
37posterior cerebral artery infarction9.7
38neuronitis9.7
39lichen amyloidosis9.7
40incontinentia pigmenti9.6
41b-cell lymphomas9.6
42marginal zone b-cell lymphoma9.6
43lymphoma9.6
44dermatitis9.6
45atopic dermatitis9.6
46amyloidosis cutis dyschromia9.6

Graphical network of the top 20 diseases related to Amyloidosis, Primary Localized Cutaneous, 1:



Diseases related to amyloidosis, primary localized cutaneous, 1

Symptoms & Phenotypes for Amyloidosis, Primary Localized Cutaneous, 1

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Symptoms by clinical synopsis from OMIM:

105250

Clinical features from OMIM:

105250

Human phenotypes related to Amyloidosis, Primary Localized Cutaneous, 1:

 64
id Description HPO Frequency HPO Source Accession
1 cutis laxa64 HP:0000973
2 pruritus64 HP:0000989
3 lattice corneal dystrophy64 HP:0001149
4 abnormality of the cranial nerves64 HP:0001291
5 amyloidosis64 HP:0011034

UMLS symptoms related to Amyloidosis, Primary Localized Cutaneous, 1:


umbilical discharge, osler's node, abnormal granulation tissue, skin symptom

Drugs & Therapeutics for Amyloidosis, Primary Localized Cutaneous, 1

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Drugs for Amyloidosis, Primary Localized Cutaneous, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 32)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Fentanylapproved, illicit, investigational, vet_approvedPhase 3773437-38-73345
Synonyms:
1-Phenethyl-4-(N-phenylpropionamido)piperidine
1-Phenethyl-4-N-propionylanilinopiperidine
1-phenethyl-4-N-propionylanilinopiperidine
437-38-7
5-22-08-00049 (Beilstein Handbook Reference)
80832-90-2
990-73-8 (citrate)
AC1L1FQ2
Actiq
BIDD:GT0555
BRN 0494484
CHEBI:119915
CHEMBL596
CID3345
D00320
DB00813
Duragesic
Duragesic (TN)
Duragesic-100
Duragesic-12
Duragesic-25
Duragesic-50
Duragesic-75
Durogesic
EINECS 207-113-6
Fentanest
Fentanil
Fentanil [DCIT]
Fentanila
Fentanila [INN-Spanish]
Fentanilo
Fentanyl
Fentanyl (JAN/USAN/INN)
Fentanyl CII
Fentanyl [INN:BAN]
Fentanyl citrate
Fentanyl-100
Fentanyl-12
Fentanyl-25
 
Fentanyl-50
Fentanyl-75
Fentanylum
Fentanylum [INN-Latin]
HSDB 3329
IONSYS
JNS020QD
L001275
LS-124439
Matrifen
MolPort-003-847-369
N-(1-Phenethyl-4-piperidinyl)-N-phenylpropionamide
N-(1-Phenethyl-4-piperidyl)propionanilide
N-(1-Phenethyl-piperidin-4-yl)-N-phenyl-propionamide
N-(1-Phenethylpiperidin-4-yl)-N-phenylpropionamide
N-(1-phenethyl-4-piperidinyl)-N-phenylpropionamide
N-(1-phenethyl-4-piperidyl)propionanilide
N-(1-phenethylpiperidin-4-yl)-N-phenylpropanamide
N-(1-phenethylpiperidin-4-yl)-N-phenylpropionamide
N-Phenethyl-4-(N-propionylanilino)piperidine
N-Phenyl-N-(1-(2-phenylethyl)-4-piperidinyl)propanamide
N-phenethyl-4-(N-propionylanilino)piperidine
N-phenyl-N-(1-(2-phenylethyl)-4-piperidinyl)propanamide
N-phenyl-N-[1-(2-phenylethyl)piperidin-4-yl]propanamide
NCGC00168252-01
Nasalfent
Oprea1_152073
Oprea1_207148
PDSP1_000860
PDSP2_000846
Pentanyl
Phentanyl
Propanamide, N-phenyl-N-(1-(2-phenylethyl)-4-piperidinyl)- (9CI)
R 4263
Rapinyl
Sentonil
Sublimase
Sublimaze
UNII-UF599785JZ
fentanyl
2Liver ExtractsPhase 33868
3NarcoticsPhase 33486
4Peripheral Nervous System AgentsPhase 322776
5Adjuvants, AnesthesiaPhase 31588
6Central Nervous System DepressantsPhase 312806
7pancreatic polypeptidePhase 320
8Analgesics, OpioidPhase 33091
9AnalgesicsPhase 311287
10AnestheticsPhase 39001
11Anesthetics, IntravenousPhase 32406
12Anesthetics, GeneralPhase 32787
13ColaNutraceuticalPhase 31881
14
Morphineapproved, investigational96057-27-25288826
Synonyms:
(-)(5.alpha.,6.alpha.)-7,8-Didehydro-4,5-epoxy-17-methylmorphinan-3,6-diol
(-)-Heroin hydrochloride
(-)-Morphine
(-)Morphine sulfate
(5R,6S,9R,13S,14R)-4,5-Epoxy-N-methyl-7-morphinen-3,6-diol
(5R,6S,9R,13S,14R)-4,5-epoxy-N-methyl-7-morphinen-3,6-diol
(5alpha,6alpha)-17-methyl-7,8-didehydro-4,5-epoxymorphinan-3,6-diol
(5alpha,6alpha)-7,8-Didehydro-4,5-epoxy-17-methylmorphinan-3,6-diol
(5alpha,6alpha)-Didehydro-4,5-epoxy-17-methylmorphinan-3,6-diol
(5alpha,6alpha)-didehydro-4,5-epoxy-17-methylmorphinan-3,6-diol
(5α,6α)-17-methyl-7,8-didehydro-4,5-epoxymorphinan-3,6-diol
(5α,6α)-didehydro-4,5-epoxy-17-methylmorphinan-3,6-diol
(7R,7AS,12BS)-3-METHYL-2,3,4,4A,7,7A-HEXAHYDRO-1H-4,12-METHANO[1]BENZOFURO[3,2-E]ISOQUINOLINE-7,9-DIOL
(7R,7AS,12bs)-3-methyl-2,3,4,4a,7,7a-hexahydro-1H-4,12-methano[1]benzofuro[3,2-e]isoquinoline-7,9-diol
(−)-morphine
17-methyl-7,8-didehydro-4,5alpha-epoxymorphinan-3,6alpha-diol
4,5alpha-Epoxy-17-methyl-7-morphinen-3,6alpha-diol
4-methyl-(13R,14S)-12-oxa-4-azapentacyclo[9.6.1.01,13.05,17.07,18]octadeca-7(18),8,10,15-tetraene-10,14-diol
47106-99-0
57-27-2
6211-15-0 (sulfate (2:1) (salt) pentahydrate)
64-31-3
64-31-3 (sulfate (2:1) (salt) anhydrous)
7,8-Didehydro-4,5-epoxy-17-methyl-morphinan-3,6-diol
7,8-Didehydro-4,5-epoxy-17-methylmorphinan-3,6-diol
8053-16-5
85201-37-2
Apokyn
Astramorph PF
Avinza
BIDD:GT0147
C01516
CCRIS 5762
CHEBI:17303
CHEMBL70
CID5288826
Cube juice
D-(-)-Morphine
DB00295
DEA No. 9300
DepoDur
Depodur
Diacetylmorphine hydrochloride
Diamorphine hydrochloride
Dolcontin
Dreamer
Dulcontin
Duramorph PF
Duromorph
EINECS 200-320-2
Epimorph
HSDB 2134
Hard stuff
Heroin hydrochloride
Heroine hydrochloride
Hocus
 
Infumorph
Kadian
LS-91748
M-Eslon
M.O.S
MOI
MORPHINE SULFATE
MORPHINE, (5A,6A)-7,8-DIDEHYDRO-4,5-EPOXY-17-METHYLMORPHINIAN-3,6-DIOL, MORPHIUM, MORPHIA, DOLCONTIN, DUROMORPH, MORPHINA, NEPENTHE
MS Contin
MS/L
MS/S
MSIR
Meconium
MolPort-003-849-273
Morfina
Morfina [Italian]
Morphia
Morphin
Morphin [German]
Morphina
Morphina [Italian]
Morphine Extra-Forte
Morphine Forte
Morphine H.P
Morphine Sulfate
Morphine [BAN]
Morphinism
Morphinum
Morphitec
Morphium
Morpho
Moscontin
Ms Contin
Ms Emma
NSC11441
Nepenthe
O,O'-Diacetylmorphine hydrochloride
OMS Concentrate
Oramorph SR
Ospalivina
RMS
RMS Uniserts
Rescudose
Roxanol
Roxanol 100
Roxanol UD
SDZ 202-250
SDZ202-250
Statex
Statex Drops
Statex SR
UNII-76I7G6D29C
Unkie
l-Morphine
morfina
morphine
nchembio.317-comp1
nchembio.64-comp1
15
Flurbiprofenapproved, investigational475104-49-43394
Synonyms:
(+-)-2-(2-Fluoro-4-biphenylyl)propionic acid
(+-)-2-Fluoro-alpha-methyl-4-biphenylacetic acid
(+/-)-2-Fluoro-alpha-methyl-4-biphenylacetic acid
(+/-)-2-Fluoro-alpha-methyl[1,1&prime
(1)-2-Fluoro-alpha-methyl(1,1'-biphenyl)-4-acetic acid
-biphenyl]-4-acetic Acid
2-(2-Fluorobiphenyl-4-yl)propanoic acid
2-(2-Fluorobiphenyl-4-yl)propionic Acid
2-(2-fluoro-[1,1'-biphenyl-4-yl])propanoic acid
2-(2-fluorobiphenyl-4-yl)propanoic acid
2-(3-fluoro-4-phenylphenyl)propanoic acid
2-Fluoro-alpha-methyl-(1,1'-biphenyl)-4-acetic acid
2-Fluoro-alpha-methyl-4-biphenylacetic acid
3-Fluoro-4-phenylhydratropic acid
5104-49-4
51543-38-5
AB00051999
AC-12003
AC1L1FU5
AC1Q1LGF
AKOS004119934
Adfeed
Adofeed
Anmetarin
Ansaid
Ansaid (TN)
Anside
Antadys
Apo-Flurbiprofen
BB_SC-1257
BIM-0051387.0001
BPBio1_000874
BRD-A86044036-001-05-9
BSPBio_000794
BSPBio_002050
BTS 18322
BTS-18322
C15H13FO2
CCRIS 3708
CHEBI:5130
CHEMBL563
CID3394
CPD000042823
Cebutid
D00330
DB00712
DivK1c_000804
EINECS 225-827-6
EINECS 257-262-6
F0371
F8514_SIGMA
FLP
FLURBIPROFEN SODIUM
FP 70
Flubiprofen
Flugalin
Flurbiprofen
Flurbiprofen (JP15/USP/INN)
Flurbiprofen Axetil
Flurbiprofen Sodium
Flurbiprofen [USAN:INN:BAN:JAN]
Flurbiprofene
Flurbiprofene [INN-French]
Flurbiprofeno
Flurbiprofeno [INN-Spanish]
Flurbiprofenum
 
Flurbiprofenum [INN-Latin]
Fluriproben
Flurofen
Froben
Froben Sr
HMS1570H16
HMS1920O20
HMS2051A05
HMS2090I06
HMS2091F21
HMS502I06
IDI1_000804
IN1332
InChI=1/C15H13FO2/c1-10(15(17)18)12-7-8-13(14(16)9-12)11-5-3-2-4-6-11/h2-10H,1H3,(H,17,18)
KBio1_000804
KBio2_001576
KBio2_004144
KBio2_006712
KBio3_001270
KBioGR_001255
KBioSS_001576
L-790,330
LS-44091
MKS-11
MLS000028441
MLS000040873
MLS000758198
MLS001201729
MLS001401361
MolPort-000-812-253
NCGC00025287-03
NCGC00025287-04
NCI60_030812
NINDS_000804
NSC685699
NSC685700
Novo-Flurprofen
Nu-Flurbiprofen
Ocufen
Ocuflur
Prestwick0_000917
Prestwick1_000917
Prestwick2_000917
Prestwick3_000917
S-Flurbiprofen
S-flurbiprofen
SAM001246961
SAM002564209
SMR000042823
SPBio_001209
SPBio_002983
SPECTRUM1500308
STK802101
Spectrum2_001025
Spectrum3_000435
Spectrum4_000558
Spectrum5_000720
Spectrum_001096
Stayban
U 27,182
U 27182
U-27182
UNII-5GRO578KLP
Yakuban
Zepolas
[+/-]-2-Fluoro-alpha-methyl-4-biphenylacetic acid
flurbiprofen
16Ramosetronapproved51132036-88-5
17
Sufentanilapproved, investigational17556030-54-741693
Synonyms:
56030-54-7
60561-17-3 (citrate)
AC1L26AJ
AC1Q5I7B
C08022
C22H30N2O2S
CHEBI:127638
CHEBI:9316
CHEMBL658
CID41693
Chronogesic
D05938
DB00708
HSDB 6760
L000580
LS-175693
MolPort-004-286-008
N-(4-(Methoxymethyl)-1-(2-(2-thienyl)ethyl)-4-piperidinyl)-N-phenylpropanamide
N-(4-(Methoxymethyl)-1-(2-(2-thienyl)ethyl)-4-piperidyl)propionanilide
 
N-[4-(methoxymethyl)-1-(2-thiophen-2-ylethyl)piperidin-4-yl]-N-phenylpropanamide
N-{4-(methoxymethyl)-1-[2-(2-thienyl)ethyl]piperidin-4-yl}-N-phenylpropanamide
N-{4-[(methyloxy)methyl]-1-[2-(2-thienyl)ethyl]piperidin-4-yl}-N-phenylpropanamide
Oprea1_120838
Oprea1_246787
PDSP1_001741
PDSP2_001724
R 30730
R-30730
SUFENTANIL
Sufentanil
Sufentanil (USAN/INN)
Sufentanil Citrate
Sufentanil [USAN:BAN:INN]
Sufentanilo
Sufentanilum
Sufentanilum [INN-Latin]
Sufentanyl
Sulfentanil
Sulfentanyl
UNII-AFE2YW0IIZ
18
Nalbuphineapproved2820594-83-65360630, 5311304
Synonyms:
(5alpha,6alpha)-17-(cyclobutylmethyl)-4,5-epoxymorphinan-3,6,14-triol
17-cyclobutylmethyl-4,5alpha-epoxymorphinan-3,6alpha,14-triol
20594-83-6
BIDD:GT0060
BPBio1_000150
BRD-K66404838-003-03-8
BSPBio_000136
C07251
CHEBI:7454
CHEMBL895
CID5311304
D08246
HMS2089I04
 
Intapan
Intapan (TN)
N-Cyclobutylmethyl-4,5alpha-epoxy-3,6alpha,14-morphinantriol
Nalbufina
Nalbuphin
Nalbuphine
Nalbuphine (INN)
Nalbuphinum
Prestwick0_000118
Prestwick1_000118
Prestwick2_000118
Prestwick3_000118
SPBio_002075
nalbuphine
19Narcotic Antagonists906
20Neurotransmitter Agents17734
21Serotonin Antagonists1381
22
Serotonin356650-67-95202
Synonyms:
3-(2-Aminoethyl)-1H-indol-5-ol
3-(2-Aminoethyl)indol-5-ol
3-(b-Aminoethyl)-5-hydroxyindole
5-HT
5-HTA
5-Hydroxy-3-(b-aminoethyl)indole
 
5-Hydroxy-tryptamine
5-Hydroxyltryptamine
5-Hydroxytriptamine
5-Hydroxytryptamine
Antemovis
DS substance
Enteramin
Enteramine
23Serotonin Agents3102
24Antiemetics3888
25Anti-Inflammatory Agents, Non-Steroidal4295
26Anti-Inflammatory Agents10355
27Analgesics, Non-Narcotic6260
28Antirheumatic Agents10627
29Autonomic Agents9774
30Flurbiprofen axetil9
31Cyclooxygenase Inhibitors2778
32Gastrointestinal Agents8109

Interventional clinical trials:

idNameStatusNCT IDPhase
1Pharmacokinetic Study for PCA Derivate FormulationsCompletedNCT00729729Phase 4
2Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer PainCompletedNCT00538850Phase 3
3Psilocybin-Assisted Psychotherapy for Anxiety in People With Stage IV MelanomaWithdrawnNCT00979693Phase 2
4Safety and Efficacy of Patient Controlled Analgesia in the Emergency DepartmentCompletedNCT00910208
5Analgesia Effects of Nalbuphine vs SulfentanilNot yet recruitingNCT02604797

Search NIH Clinical Center for Amyloidosis, Primary Localized Cutaneous, 1

Genetic Tests for Amyloidosis, Primary Localized Cutaneous, 1

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Genetic tests related to Amyloidosis, Primary Localized Cutaneous, 1:

id Genetic test Affiliating Genes
1 Primary Localized Cutaneous Amyloidosis 127
2 Amyloidosis, Primary Localized Cutaneous 124 OSMR

Anatomical Context for Amyloidosis, Primary Localized Cutaneous, 1

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MalaCards organs/tissues related to Amyloidosis, Primary Localized Cutaneous, 1:

36
Skin, Liver

Publications for Amyloidosis, Primary Localized Cutaneous, 1

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Variations for Amyloidosis, Primary Localized Cutaneous, 1

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UniProtKB/Swiss-Prot genetic disease variations for Amyloidosis, Primary Localized Cutaneous, 1:

70
id Symbol AA change Variation ID SNP ID
1OSMRp.Gly618AlaVAR_043513rs63750560
2OSMRp.Ile691ThrVAR_043514rs63750567
3OSMRp.Asp647ValVAR_065810rs387906821
4OSMRp.Pro694LeuVAR_065811rs387906822
5OSMRp.Lys697ThrVAR_065812rs387906823

Clinvar genetic disease variations for Amyloidosis, Primary Localized Cutaneous, 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1OSMRNM_003999.2(OSMR): c.1940A> T (p.Asp647Val)SNVPathogenicrs387906821GRCh37Chr 5, 38924593: 38924593
2OSMRNM_003999.2(OSMR): c.2081C> T (p.Pro694Leu)SNVPathogenicrs387906822GRCh37Chr 5, 38925342: 38925342
3OSMRNM_003999.2(OSMR): c.2090A> C (p.Lys697Thr)SNVPathogenicrs387906823GRCh37Chr 5, 38925351: 38925351
4OSMRNM_003999.2(OSMR): c.2072T> C (p.Ile691Thr)SNVPathogenicrs63750567GRCh37Chr 5, 38925333: 38925333
5OSMRNM_003999.2(OSMR): c.1853G> C (p.Gly618Ala)SNVPathogenicrs63750560GRCh37Chr 5, 38923339: 38923339

Expression for genes affiliated with Amyloidosis, Primary Localized Cutaneous, 1

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Search GEO for disease gene expression data for Amyloidosis, Primary Localized Cutaneous, 1.

Pathways for genes affiliated with Amyloidosis, Primary Localized Cutaneous, 1

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Pathways related to Amyloidosis, Primary Localized Cutaneous, 1 according to GeneCards Suite gene sharing:

(show all 45)
idSuper pathwaysScoreTop Affiliating Genes
19.9CALM1, CALM2, CALM3
2
Show member pathways
9.9CALM1, CALM2, CALM3
39.9CALM1, CALM2, CALM3
49.9CALM1, CALM2, CALM3
59.9CALM1, CALM2, CALM3
6
Show member pathways
9.9CALM1, CALM2, CALM3
7
Show member pathways
9.9CALM1, CALM2, CALM3
89.9CALM1, CALM2, CALM3
99.9CALM1, CALM2, CALM3
109.9CALM1, CALM2, CALM3
11
Show member pathways
9.9CALM1, CALM2, CALM3
129.9CALM1, CALM2, CALM3
139.9CALM1, CALM2, CALM3
149.9CALM1, CALM2, CALM3
15
Show member pathways
9.9CALM1, CALM2, CALM3
169.9CALM1, CALM2, CALM3
179.9CALM1, CALM2, CALM3
18
Show member pathways
9.9CALM1, CALM2, CALM3
199.9CALM1, CALM2, CALM3
209.9CALM1, CALM2, CALM3
21
Show member pathways
9.9CALM1, CALM2, CALM3
229.9CALM1, CALM2, CALM3
239.9CALM1, CALM2, CALM3
249.9CALM1, CALM2, CALM3
25
Show member pathways
9.9CALM1, CALM2, CALM3
269.9CALM1, CALM2, CALM3
27
Show member pathways
9.9CALM1, CALM2, CALM3
28
Show member pathways
9.9CALM1, CALM2, CALM3
299.9CALM1, CALM2, CALM3
30
Show member pathways
9.6CALM1, CALM2, CALM3, MYLK
31
Show member pathways
9.6CALM1, CALM2, CALM3, MYLK
329.6CALM1, CALM2, CALM3, MYLK
339.6CALM1, CALM2, CALM3, MYLK
349.6CALM1, CALM2, CALM3, MYLK
359.5CALM1, CALM2, CALM3, MYL9
369.4MYL9, TNNI3, TNNT1, TTN
37
Show member pathways
9.3CALM1, CALM2, CALM3, MYL9, MYLK
38
Show member pathways
9.3CALM1, CALM2, CALM3, MYL9, MYLK
399.3CALM1, CALM2, CALM3, MYL9, MYLK
40
Show member pathways
9.3CALM1, CALM2, CALM3, MYL9, MYLK
41
Show member pathways
9.3CALM1, CALM2, CALM3, MYL9, MYLK
42
Show member pathways
9.3CALM1, CALM2, CALM3, MYL9, TNNI3
43
Show member pathways
9.2CALM1, CALM2, CALM3, MGAM, PC
44
Show member pathways
9.0CALM1, CALM2, CALM3, MYL9, MYLK, TNNI3
45
Show member pathways
8.6CALM1, CALM2, CALM3, MYL9, MYLK, TNNI3

GO Terms for genes affiliated with Amyloidosis, Primary Localized Cutaneous, 1

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Cellular components related to Amyloidosis, Primary Localized Cutaneous, 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1calcium channel complexGO:003470410.6CALM1, CALM2, CALM3
2muscle myosin complexGO:000585910.5MYL9, TTN
3troponin complexGO:000586110.5TNNI3, TNNT1
4spindle microtubuleGO:000587610.5CALM1, CALM2, CALM3
5spindle poleGO:000092210.4CALM1, CALM2, CALM3
6sarcomereGO:003001710.2CALM1, CALM2, CALM3, TNNI3
7voltage-gated potassium channel complexGO:00080769.9CALM1, CALM2, CALM3
8cytosolGO:00058298.0CALM1, CALM2, CALM3, JMJD6, MYL9, MYLK

Biological processes related to Amyloidosis, Primary Localized Cutaneous, 1 according to GeneCards Suite gene sharing:

(show all 37)
idNameGO IDScoreTop Affiliating Genes
1regulation of ryanodine-sensitive calcium-release channel activityGO:006031410.7CALM2, CALM3
2activation of adenylate cyclase activityGO:000719010.6CALM1, CALM2, CALM3
3detection of calcium ionGO:000551310.6CALM1, CALM2, CALM3
4glycogen catabolic processGO:000598010.6CALM1, CALM2, CALM3
5inositol phosphate metabolic processGO:004364710.6CALM1, CALM2, CALM3
6negative regulation of peptidyl-threonine phosphorylationGO:001080110.5CALM1, CALM2, CALM3
7negative regulation of ryanodine-sensitive calcium-release channel activityGO:006031510.5CALM1, CALM2, CALM3
8positive regulation of cyclic nucleotide metabolic processGO:003080110.5CALM1, CALM2, CALM3
9positive regulation of cyclic-nucleotide phosphodiesterase activityGO:005134310.5CALM1, CALM2, CALM3
10positive regulation of DNA bindingGO:004338810.5CALM1, CALM2, CALM3
11positive regulation of nitric-oxide synthase activityGO:005100010.5CALM1, CALM2, CALM3
12positive regulation of peptidyl-threonine phosphorylationGO:001080010.5CALM1, CALM2, CALM3
13positive regulation of phosphoprotein phosphatase activityGO:003251610.5CALM1, CALM2, CALM3
14positive regulation of protein autophosphorylationGO:003195410.5CALM1, CALM2, CALM3
15positive regulation of protein dephosphorylationGO:003530710.5CALM1, CALM2, CALM3
16positive regulation of protein serine/threonine kinase activityGO:007190210.5CALM1, CALM2, CALM3
17positive regulation of ryanodine-sensitive calcium-release channel activityGO:006031610.5CALM1, CALM2, CALM3
18regulation of cardiac muscle contractionGO:005511710.5CALM1, CALM2, CALM3
19regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionGO:001088110.5CALM1, CALM2, CALM3
20regulation of cell communication by electrical coupling involved in cardiac conductionGO:190184410.5CALM1, CALM2, CALM3
21striated muscle contractionGO:000694110.5TNNI3, TTN
22regulation of cytokinesisGO:003246510.5CALM1, CALM2, CALM3
23regulation of heart rateGO:000202710.5CALM1, CALM2, CALM3
24regulation of high voltage-gated calcium channel activityGO:190184110.5CALM1, CALM2, CALM3
25regulation of nitric-oxide synthase activityGO:005099910.5CALM1, CALM2, CALM3
26regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:001088010.5CALM1, CALM2, CALM3
27regulation of rhodopsin mediated signaling pathwayGO:002240010.5CALM1, CALM2, CALM3
28response to amphetamineGO:000197510.4CALM1, CALM2, CALM3
29muscle filament slidingGO:003004910.4TNNI3, TNNT1, TTN
30response to corticosteroneGO:005141210.4CALM1, CALM2, CALM3
31MAPK cascadeGO:000016510.4CALM1, CALM2, CALM3, IL31RA
32platelet degranulationGO:000257610.3CALM1, CALM2, CALM3, TTN
33substantia nigra developmentGO:002176210.3CALM1, CALM2, CALM3
34regulation of muscle contractionGO:000693710.3MYL9, TNNI3, TNNT1
35response to calcium ionGO:005159210.2CALM1, CALM2, CALM3, TTN
36Wnt signaling pathway, calcium modulating pathwayGO:00072239.9CALM1, CALM2, CALM3
37muscle contractionGO:00069369.8CALM1, CALM2, CALM3, MYL9, MYLK, TTN

Molecular functions related to Amyloidosis, Primary Localized Cutaneous, 1 according to GeneCards Suite gene sharing:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1enzyme regulator activityGO:003023410.8CALM2, CALM3
2adenylate cyclase bindingGO:000817910.6CALM1, CALM2, CALM3
3inositol-1,4,5-trisphosphate 3-kinase activityGO:000844010.6CALM1, CALM2, CALM3
4ion channel bindingGO:004432510.6CALM1, CALM2, CALM3
5ligand-gated ion channel activityGO:001527610.6CALM1, CALM2, CALM3
6N-terminal myristoylation domain bindingGO:003199710.6CALM1, CALM2, CALM3
7nitric-oxide synthase bindingGO:005099810.6CALM1, CALM2, CALM3
8nitric-oxide synthase regulator activityGO:003023510.6CALM1, CALM2, CALM3
9phosphatidylinositol 3-kinase bindingGO:004354810.6CALM1, CALM2, CALM3
10phospholipase bindingGO:004327410.6CALM1, CALM2, CALM3
11protein phosphatase activator activityGO:007254210.4CALM1, CALM2, CALM3
12protein serine/threonine kinase activator activityGO:004353910.4CALM1, CALM2, CALM3
13calcium-dependent protein bindingGO:004830610.3CALM1, CALM2, CALM3, TNNI3
14Ras guanyl-nucleotide exchange factor activityGO:000508810.3CALM1, CALM2, CALM3
15protein domain specific bindingGO:001990410.3CALM1, CALM2, CALM3, TNNI3
16thioesterase bindingGO:003199610.2CALM1, CALM2, CALM3
17titin bindingGO:003143210.0CALM1, CALM2, CALM3
18troponin T bindingGO:003101410.0TNNI3, TNNT1
19type 3 metabotropic glutamate receptor bindingGO:00318009.9CALM1, CALM2, CALM3
20protein kinase bindingGO:00199019.8CALM1, CALM2, CALM3, IL31RA, TNNI3, TTN

Sources for Amyloidosis, Primary Localized Cutaneous, 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet