MCID: DSM003
MIFTS: 26

Desmoid Disease, Hereditary malady

Category: Genetic diseases (common)

Aliases & Classifications for Desmoid Disease, Hereditary

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Aliases & Descriptions for Desmoid Disease, Hereditary:

Name: Desmoid Disease, Hereditary 49 11 65
Hereditary Desmoid Disease 67 24
Familial Infiltrative Fibromatosis 67
 
Fif 67
Hdd 67

Characteristics:

HPO:

61
desmoid disease, hereditary:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 135290
UMLS65 C1851124

Summaries for Desmoid Disease, Hereditary

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OMIM:49 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 desmoid tumor and leukemia, and has symptoms including desmoid tumors, sarcoma and abnormality of the abdominal wall. An important gene associated with Desmoid Disease, Hereditary is APC (Adenomatous Polyposis Coli). Affiliated tissues include breast, colon and skin, and related mouse phenotype liver/biliary system.

UniProtKB/Swiss-Prot:67 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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Diseases related to Desmoid Disease, Hereditary via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1desmoid tumor11.5
2leukemia10.4
3ehlers-danlos syndrome, type viic9.7APC, GLUL
4hepatocellular carcinoma9.7APC, GLUL
5gastric cancer, somatic9.6APC, GLUL
6desmoid disease, hereditary9.5APC, GLUL

Graphical network of 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

HPO human phenotypes related to Desmoid Disease, Hereditary:

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

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ErythromycinapprovedPhase 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
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
E.e.s
E.e.s.
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
Ery-B
Ery-Diolan
Ery-Sol
Ery-Tab
Ery-Tab (base)
Ery-maxin
Ery-ped
Ery-tab
Eryacne
Eryacnen
Erybid
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
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 Base
Erythromycin Base Base
Erythromycin Base Filmtab
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
2Erythromycin stearatePhase 492
3Gastrointestinal AgentsPhase 46401
4Anti-Bacterial AgentsPhase 49140
5Erythromycin EthylsuccinatePhase 492
6Erythromycin EstolatePhase 492
7Anti-Infective AgentsPhase 417220
8Fluorides364
9ColaNutraceutical1768

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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Anatomical Context for Desmoid Disease, Hereditary

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MalaCards organs/tissues related to Desmoid Disease, Hereditary:

33
Breast, Colon, Skin

Animal Models for Desmoid Disease, Hereditary or affiliated genes

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MGI Mouse Phenotypes related to Desmoid Disease, Hereditary:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.1APC, 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
1APCAPC, 2-BP INS, CODON 1924insertionPathogenic
2APCAPC, 4-BP DEL, NT5844deletionPathogenic
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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GO Terms for genes affiliated with Desmoid Disease, Hereditary

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Sources for Desmoid Disease, Hereditary

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet