MCID: DSM003
MIFTS: 43

Desmoid Disease, Hereditary malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Desmoid Disease, Hereditary

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Aliases & Descriptions for Desmoid Disease, Hereditary:

Name: Desmoid Disease, Hereditary 50 12
Hereditary Desmoid Disease 68 25
Familial Infiltrative Fibromatosis 68
Desmoid Type Fibromatosis 52
Fibromatosis, Aggressive 66
 
Aggressive Fibromatosis 52
Desmoid Tumor 52
Fif 68
Hdd 68

Characteristics:

Orphanet epidemiological data:

52
desmoid type fibromatosis:
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adolescent,Adult; Age of death: normal life expectancy

HPO:

62
desmoid disease, hereditary:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 135290
Orphanet52 ORPHA873
ICD10 via Orphanet29 D48.1

Summaries for Desmoid Disease, Hereditary

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OMIM:50 Hereditary desmoid disease usually presents as an extraintestinal manifestation of familial adenomatous polyposis (FAP;... (135290) more...

MalaCards based summary: Desmoid Disease, Hereditary, also known as hereditary desmoid disease, is related to hepatocellular carcinoma and desmoid tumor, and has symptoms including abnormality of the abdominal wall, sarcoma and desmoid tumors. An important gene associated with Desmoid Disease, Hereditary is APC (APC, WNT Signaling Pathway Regulator), and among its related pathways are Wnt / Hedgehog / Notch and Colorectal Cancer Metastasis. Affiliated tissues include breast, skin and colon, and related mouse phenotype liver/biliary system.

UniProtKB/Swiss-Prot:68 Hereditary desmoid disease: Autosomal dominant trait with 100% penetrance and possible variable expression among affected relatives. HDD patients show multifocal fibromatosis of the paraspinal muscles, breast, occiput, arms, lower ribs, abdominal wall, and mesentery. Desmoid tumors appears also as a complication of familial adenomatous polyposis.

Related Diseases for Desmoid Disease, Hereditary

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Graphical network of the top 20 diseases related to Desmoid Disease, Hereditary:



Diseases related to desmoid disease, hereditary

Symptoms for Desmoid Disease, Hereditary

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Symptoms by clinical synopsis from OMIM:

135290

Clinical features from OMIM:

135290

Symptoms:

 52 (show all 20)
  • hydronephrosis
  • limitation of joint mobility
  • subcutaneous nodule
  • malabsorption
  • abdominal pain
  • gastrointestinal hemorrhage
  • osteolysis
  • arthralgia
  • abnormality of the musculature
  • myalgia
  • abnormality of the abdominal wall
  • intestinal obstruction
  • abnormal retinal pigmentation
  • neoplasm of the skin
  • fibroma
  • abnormality of the upper urinary tract
  • desmoid tumors
  • chest pain
  • sepsis
  • intestinal polyposis

HPO human phenotypes related to Desmoid Disease, Hereditary:

(show all 19)
id Description Frequency HPO Source Accession
1 abnormality of the abdominal wall hallmark (90%) HP:0004298
2 sarcoma hallmark (90%) HP:0100242
3 desmoid tumors hallmark (90%) HP:0100245
4 abdominal pain typical (50%) HP:0002027
5 myalgia typical (50%) HP:0003326
6 intestinal polyposis typical (50%) HP:0200008
7 epidermoid cyst frequent (33%) HP:0200040
8 limitation of joint mobility occasional (7.5%) HP:0001376
9 malabsorption occasional (7.5%) HP:0002024
10 gastrointestinal hemorrhage occasional (7.5%) HP:0002239
11 osteolysis occasional (7.5%) HP:0002797
12 arthralgia occasional (7.5%) HP:0002829
13 intestinal obstruction occasional (7.5%) HP:0005214
14 abnormality of retinal pigmentation occasional (7.5%) HP:0007703
15 neoplasm of the skin occasional (7.5%) HP:0008069
16 abnormality of the upper urinary tract occasional (7.5%) HP:0010935
17 chest pain occasional (7.5%) HP:0100749
18 sepsis occasional (7.5%) HP:0100806
19 colon cancer rare (5%) HP:0003003

Drugs & Therapeutics for Desmoid Disease, Hereditary

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Drugs for Desmoid Disease, Hereditary (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ErythromycinPhase 492114-07-812560
Synonyms:
(3R,4S,5S,6R,7R,9R,11R,12R,13S,14R)-6-{[(2S,3R,4S,6R)-4-(dimethylamino)-3-hydroxy-6-methyltetrahydro-2H-pyran-2-yl]oxy}-14-ethyl-7,12,13-trihydroxy-4-{[(2R,4R,5S,6S)-5-hydroxy-4-methoxy-4,6-dimethyltetrahydro-2H-pyran-2-yl]oxy}-3,5,7,9,11,13-hexamethyloxacyclotetradecane-2,10-dione
,10-dione
114-07-8
3''-O-demethylerythromycin
374700-25-1
45673_FLUKA
45674_FLUKA
79235-06-6
82343-12-2
A/T/S
AC-12744
AC1L1FIQ
AC1L1QK7
AC1L1ZUR
AC1O8PVA
AC1Q2UA1
AC1Q6O1S
AI3-50138
AR-1A4414
AR-1H0723
Abboticin
Abomacetin
Acneryne
Acnesol
Ak-Mycin
Ak-mycin
Akne Cordes Losung
Akne-Mycin
Akne-mycin (TN)
Aknederm Ery Gel
Aknemycin
Aknin
AustriaS
BB_NC-1332
BIDD:GT0017
BPBio1_000312
BSPBio_000282
BSPBio_002480
Benzamycin
Benzamycin Pak
Bristamycin
C-Solve-2
C01912
C37H67NO13
CCRIS 9078
CHEBI:42355
CHEMBL532
CID12560
CID3255
CID6713919
CID8233
D00140
DB00199
Del-Mycin
Derimer
Deripil
DivK1c_000294
DivK1c_000397
DivK1c_000702
Dotycin
Dumotrycin
E- mycin, Erycin, Robimysin
E-Base
E-Base (base)
E-Glades
E-Mycin
E-Mycin (base)
E-Solve 2
E0751
E0774_SIAL
E5389_SIGMA
E6376_SIAL
E7904_SIGMA
EINECS 204-040-1
EM
EMU
ERY
ERYC
ERYC (base)
ERYTHROMYCIN STEARATE
ETS
Emgel
Emu-V
Emu-Ve
Emuvin
Emycin
Endoeritrin
Erecin
Erimycin-T
Erisone
Eritomicina
Eritrocina
Eritromicina
Eritromicina [INN-Spanish]
Ermycin
Eros
Ery-B
Ery-Diolan
Ery-Sol
Ery-Tab
Ery-Tab (base)
Ery-maxin
Eryacne
Eryacnen
Eryc
Eryc (TN)
Eryc 125
Eryc Sprinkles
Eryc-125
Eryc-250
Erycen
Erycette
Erycin
Erycinum
Eryderm
Erydermer
Erygel
Erygel (TN)
Eryhexal
Erymax
Erymed
Erypar
Erysafe
Erytab
Erythra-Derm
Erythro
Erythro-Statin
Erythro-Teva
Erythrocin
Erythrocin Stearate
Erythroderm
Erythrogran
Erythroguent
Erythromast 36
Erythromid
Erythromycin
Erythromycin & VRC3375
Erythromycin (JP15/USP/INN)
 
Erythromycin A
Erythromycin A, T-Stat, Pantomicina, HSDB 3074, Erytab, DRG-0279
Erythromycin B
Erythromycin C
Erythromycin Lactate
Erythromycin Ointment
Erythromycin Stearate
Erythromycin [INN:BAN:JAN]
Erythromycin base
Erythromycin estolate
Erythromycin ethylsuccinate
Erythromycin glucoheptonate
Erythromycin intravenous
Erythromycin lactobionate
Erythromycin oxime
Erythromycin sodium lauryl sulfate
Erythromycin, compd. with monododecyl sulfate, sodium salt
Erythromycine
Erythromycine [INN-French]
Erythromycinum
Erythromycinum [INN-Latin]
Erytop
Erytrociclin
Ethril 250
HMS1568O04
HMS1920M04
HMS2091D05
HMS500O16
HSDB 3074
I06-0245
IDI1_000294
IDI1_000397
IDI1_000702
Ilocaps
Ilosone
Ilosone (estolate)
Iloticina
Ilotycin
Ilotycin Gluceptate
Ilotycin T.S
Ilotycin T.S.
Inderm
Inderm Gel
IndermRetcin
KBio1_000294
KBio1_000397
KBio1_000702
KBio2_000555
KBio2_001139
KBio2_003123
KBio2_003707
KBio2_005691
KBio2_006275
KBioGR_001175
KBioSS_000555
KBioSS_001139
KST-1A8261
Kesso-Mycin
LMPK04000006
LS-187077
LS-64648
Latotryd
Lederpax
MLS001066618
Mephamycin
Mercina
MolPort-000-772-161
MolPort-002-507-378
MolPort-003-933-429
N-Methylerythromycin A
NCGC00179619-01
NCI-C55674
NINDS_000294
NINDS_000397
NINDS_000702
NSC 55929
NSC55929
Oftalmolosa Cusi Eritromicina
Oftamolets
PCE Dispertab (base)
Paediathrocin
Pantoderm
Pantodrin
Pantomicina
Pce
Pce (TN)
Pfizer-e
Pharyngocin
Prestwick0_000151
Prestwick1_000151
Prestwick2_000151
Prestwick3_000151
Prestwick_205
Primacine
Propiocine
Proterytrin
R-P Mycin
Retcin
Robimycin
Romycin
SBB057401
SMP1_000119
SMR000544946
SPBio_000778
SPBio_001226
SPBio_002221
SPECTRUM1500280
STK249736
Sans-acne
Sansac
Serp-AFD
Skid Gel E
Spectrum2_000759
Spectrum2_001263
Spectrum4_000538
Spectrum5_001596
Spectrum_000115
Spectrum_000659
Staticin
Staticin (TN)
Stiemicyn
Stiemycin
Sulfuric acid, monododecyl ester, sodium salt, compd. with erythromycin
T-Stat
T-stat (TN)
Taimoxin-F
Theramycin Z
Tiloryth
Tiprocin
Torlamicina
UNII-63937KV33D
Udima Ery Gel
Wemid
Wyamycin S
adecane-2,10-dione (non-preferred name)
bmse000664
erythro
erythromycin
nchembio.285-comp13
2Fluorides405
3Estradiol valerate1250979-32-8
4
Estradiol125050-28-25757, 53477783
Synonyms:
(+)-3,17b-Estradiol
(17b)-Estra-1,3,5(10)-triene-3,17-diol
(17beta)-Estra-1,3,5(10)-triene-3,17-diol
.alpha.-Estradiol
.alpha.-Oestradiol
.beta.-Estradiol
.beta.-Oestradiol
1,3,5[10]-Estratriene-3,17beta-diol 3-sulfate
1,3,5[10]-Estratriene-3,17beta-diol 3-sulphate
13b-Methyl-1,3,5(10)-gonatriene-3,17b-ol
17 beta-Estradiol
17-.BETA.-Estradiol
17-E
17-beta
17-beta-OH-estradiol
17-beta-estradiol
17.beta.-Estradiol
17.beta.-Oestradiol
17E
17b-Estradiol
17b-Oestradiol
17beta Oestradiol
17beta oestradiol
17beta-Estra-1,3,5(10)-triene-3,17-diol
17beta-Estradiol
17beta-Oestradiol
1jgl
1qkt
1qku
2d06
3,17-Epidihydroxyestratriene
3,17-beta-Estradiol
3,17-beta-Oestradiol
3,17.beta.-Estradiol
3,17b-Dihydroxyestra-1,3,5(10)-triene
3,17b-Estradiol
3,17beta-Estradiol
3,17beta-dihydroxy-1,3,5[10]-estratriene 3-sulfate
3,17beta-dihydroxy-1,3,5[10]-estratriene 3-sulphate
50-28-2
73459-61-7
873662-39-6
AC-10460
AC1L1L2K
Aerodiol
Agofollin
Alora
Altrad
Amnestrogen
Aquadiol
B-Estradiol
BEDOs
BIDD:ER0125
BIDD:PXR0065
BPBio1_000532
BSPBio_000482
BSPBio_001065
Bardiol
Benzhormovarine
Beta-estradiol
Bio-0812
Bio-E-Gel
Bio1_000403
Bio1_000892
Bio1_001381
Bio2_000363
Bio2_000843
C00951
C18H24O2
CCRIS 280
CHEBI:16469
CHEMBL135
CID5757
CMC_11154
CPD-352
CPD000059126
Climaderm
Climara
Climara (TN)
Climara Forte
Compudose
Compudose 200
Compudose 365
Corpagen
D-3,17beta-Estradiol
D-Estradiol
D-Oestradiol
D00105
DB00783
Dermestril
Destradiol
Dihydro-Theelin
Dihydrofollicular hormone
Dihydrofolliculin
Dihydromenformon
Dihydrotheelin
Dihydroxyesterin
Dihydroxyestrin
Dihydroxyoestrin
Dimenformon
Diogyn
Diogynets
Divigel
Divigel (TN)
E 2
E 8875
E(sub 2)
E0025
E1024_SIGMA
E1132_SIGMA
E2257_SIGMA
E2758_SIGMA
E8875_SIGMA
EINECS 200-023-8
EU-0100503
Elestrin
Encore
Epiestriol 50
Esclim
Estra-1,3,5(10)-triene-3,17b-diol
Estrace
Estrace (TN)
Estraderm
Estraderm (TN)
Estraderm MX
Estraderm TTS
Estraderm TTS 100
Estraderm TTS 50
Estradiol
Estradiol [USAN:INN]
Estradiol-17 beta
Estradiol-17-beta
Estradiol-17.beta.
Estradiol-17beta
Estradiol-3,17beta
Estradiolo
Estradiolo [DCIT]
Estradiolum
Estradiolum [INN]
Estradot
Estraldine
Estrapak 50
Estrasorb
Estrasorb (TN)
Estreva
Estrifam
Estring
Estring (TN)
Estring Vaginal Ring
Estring vaginal ring
Estroclim
Estroclim 50
Estrodiolum
Estrofem 2
Estrofem Forte
Estrogel
 
Estrogel (TN)
Estrogel HBF
Estrovite
Evamist
Evorel
Extrasorb
Femanest
Femestral
Femestrol
Femogen
Fempatch
Femtrace
Femtran
Follicyclin
Gelestra
Ginedisc
Ginosedol
GynPolar
Gynergon
Gynestrel
Gynodiol
Gynoestryl
HMS1362E07
HMS1569I04
HMS1792E07
HMS1990E07
HMS2051C17
HMS2090E18
HSDB 3589
IDI1_002118
Innofem
Innofem (TN)
KBio2_000405
KBio2_002269
KBio2_002973
KBio2_004837
KBio2_005541
KBio2_007405
KBio3_000769
KBio3_000770
KBio3_002749
KBioGR_000405
KBioGR_002269
KBioSS_000405
KBioSS_002270
LMST02010001
LS-137
Lamdiol
Lio-Oid
Lopac0_000503
MLS000069494
MLS000758312
MLS001076331
Macrodiol
Macrol
Menest
Menorest
Menostar
Microdiol
MolPort-001-794-632
NCGC00091544-00
NCGC00091544-01
NCGC00091544-02
NCGC00091544-04
NCGC00091544-05
NCGC00091544-06
NCGC00091544-07
NCGC00091544-08
NCGC00091544-09
NCGC00091544-12
NCGC00179321-01
NCGC00179321-02
NSC-9895
NSC9895
Nordicol
Oesclim
Oestergon
Oestra-1,3,5(10)-triene-3,17b-diol
Oestradiol
Oestradiol Berco
Oestradiol R
Oestradiol-17-beta
Oestradiol-17.beta.
Oestradiol-17beta
Oestradiolum
Oestrogel
Oestroglandol
Oestrogynal
Ovahormon
Ovasterol
Ovastevol
Ovociclina
Ovocyclin
Ovocycline
Ovocylin
Perlatanol
Polyestradiol
Prestwick0_000441
Prestwick1_000441
Prestwick2_000441
Prestwick3_000441
Prestwick_207
Primofol
Profoliol
Profoliol B
Progynon
Progynon DH
Progynon-DH
S-21400
S1709_Selleck
SAM001247032
SK-Estrogens
SL-1100
SMP1_000121
SMR000059126
SPBio_002421
Sandrena 1
Sandrena Gel
Sisare Gel
Spectrum5_002055
Syndiol
Systen
Tradelia
Trial SAT
Trocosone
UNII-4TI98Z838E
VIVELLE-DOT
Vagifem
Vagifem (TN)
Vivelle
Vivelle (TN)
Zerella
Zesteem
Zesteen
Zumenon
[2,4,6,7-3H]-E2
[3H]-estradiol
[3H]]estradiol
b-Estradiol
beta-Estradiol
beta-Estradiol 3-sulfate
beta-Estradiol 3-sulphate
bmse000642
cMAP_000005
cis-Estradiol
cis-Oestradiol
component of Menrium
delta-Estradiol
delta-Oestradiol
estradiol
estradiol-17beta
nchembio.168-comp3
nchembio.76-comp2
nchembio775-comp2
nchembio794-comp6
nchembio860-comp1
progynon
5COLANutraceutical1824

Interventional clinical trials:

idNameStatusNCT IDPhase
1Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutations in Familial Adenomatous PolyposisRecruitingNCT02175914Phase 4
2Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutation in Familial Adenomatous Polyposis-minors' Adjusted VersionNot yet recruitingNCT02354560Phase 4
3A Cohort Study of Patients Treated With Brachytherapy for Selected Desmoid Patients in Gardner SyndromeCompletedNCT01286662
418F-FES PET/CT in Imaging Patients With Desmoid TumorsRecruitingNCT02374931

Search NIH Clinical Center for Desmoid Disease, Hereditary

Genetic Tests for Desmoid Disease, Hereditary

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Genetic tests related to Desmoid Disease, Hereditary:

id Genetic test Affiliating Genes
1 Desmoid Disease, Hereditary25

Anatomical Context for Desmoid Disease, Hereditary

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MalaCards organs/tissues related to Desmoid Disease, Hereditary:

34
Breast, Skin, Colon

Animal Models for Desmoid Disease, Hereditary or affiliated genes

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MGI Mouse Phenotypes related to Desmoid Disease, Hereditary:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.0APC, CTNNB1, GLUL

Publications for Desmoid Disease, Hereditary

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Variations for Desmoid Disease, Hereditary

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Clinvar genetic disease variations for Desmoid Disease, Hereditary:

5
id Gene Variation Type Significance SNP ID Assembly Location
1APCNM_000038.5(APC): c.5826_5829delCAGA (p.Asp1942Glufs)deletionPathogenicrs864622228GRCh38Chr 5, 112841420: 112841423
2APCAPC, 2-BP INS, CODON 1924insertionPathogenic
3APCNM_000038.5(APC): c.4575_4576ins337 (p.?)insertionPathogenicGRCh38Chr 5, 112840169: 112840170
4APCAPC, 4-BP DEL, 7929TCTAdeletionPathogenic

Expression for genes affiliated with Desmoid Disease, Hereditary

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Search GEO for disease gene expression data for Desmoid Disease, Hereditary.

Pathways for genes affiliated with Desmoid Disease, Hereditary

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Pathways related to Desmoid Disease, Hereditary according to GeneCards Suite gene sharing:

(show all 18)
idSuper pathwaysScoreTop Affiliating Genes
19.3APC, CTNNB1
29.3APC, CTNNB1
3
Show member pathways
9.3APC, CTNNB1
49.3APC, CTNNB1
5
Show member pathways
9.3APC, CTNNB1
6
Show member pathways
9.3APC, CTNNB1
79.3APC, CTNNB1
8
Show member pathways
9.3APC, CTNNB1
99.3APC, CTNNB1
109.3APC, CTNNB1
119.3APC, CTNNB1
129.3APC, CTNNB1
139.3APC, CTNNB1
149.3APC, CTNNB1
159.3APC, CTNNB1
169.3APC, CTNNB1
179.3APC, CTNNB1
189.3APC, CTNNB1

GO Terms for genes affiliated with Desmoid Disease, Hereditary

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Cellular components related to Desmoid Disease, Hereditary according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Wnt signalosomeGO:19909099.8APC, CTNNB1
2catenin complexGO:00163429.8APC, CTNNB1
3beta-catenin destruction complexGO:00308779.7APC, CTNNB1
4bicellular tight junctionGO:00059239.6APC, CTNNB1
5synapseGO:00452029.3APC, CTNNB1
6cell cortexGO:00059389.3APC, CTNNB1
7lamellipodiumGO:00300279.2APC, CTNNB1
8lateral plasma membraneGO:00163289.0APC, CTNNB1

Biological processes related to Desmoid Disease, Hereditary according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1beta-catenin destruction complex disassemblyGO:19048869.7APC, CTNNB1
2regulation of cell differentiationGO:00455959.7APC, CTNNB1
3cell fate specificationGO:00017089.7APC, CTNNB1
4pancreas developmentGO:00310169.6APC, CTNNB1
5proteasome-mediated ubiquitin-dependent protein catabolic processGO:00431619.5APC, CTNNB1
6Wnt signaling pathwayGO:00160559.3APC, CTNNB1
7canonical Wnt signaling pathwayGO:00600709.2APC, CTNNB1

Molecular functions related to Desmoid Disease, Hereditary according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cadherin bindingGO:00452969.6APC, CTNNB1
2protein complex bindingGO:00324039.3APC, CTNNB1

Sources for Desmoid Disease, Hereditary

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet