HDD
MCID: DSM003
MIFTS: 44

Desmoid Disease, Hereditary (HDD) malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Desmoid Disease, Hereditary

Aliases & Descriptions for Desmoid Disease, Hereditary:

Name: Desmoid Disease, Hereditary 54 24 13 69
Hereditary Desmoid Disease 66 29
Fif 24 66
Fibromatosis, Familial Infiltrative 24
Familial Infiltrative Fibromatosis 66
Desmoid Type Fibromatosis 56
Fibromatosis, Aggressive 69
Aggressive Fibromatosis 56
Desmoid Tumor 56
Hdd 66

Characteristics:

Orphanet epidemiological data:

56
desmoid tumor
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

HPO:

32
desmoid disease, hereditary:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 135290
Orphanet 56 ORPHA873
ICD10 via Orphanet 34 D48.1

Summaries for Desmoid Disease, Hereditary

OMIM : 54 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 fibromatosis, and has symptoms including desmoid tumors, arthralgia and myalgia. An important gene associated with Desmoid Disease, Hereditary is APC (APC, WNT Signaling Pathway Regulator), and among its related pathways/superpathways are Pathways in cancer and Wnt Signaling Pathway and Pluripotency. The drugs Erythromycin and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include breast, skin and colon, and related phenotypes are Increased shRNA abundance (Z-score > 2) and pigmentation

UniProtKB/Swiss-Prot : 66 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

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



Diseases related to Desmoid Disease, Hereditary

Symptoms & Phenotypes for Desmoid Disease, Hereditary

Symptoms by clinical synopsis from OMIM:

135290

Clinical features from OMIM:

135290

Human phenotypes related to Desmoid Disease, Hereditary:

56 32 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 desmoid tumors 56 32 Very frequent (99-80%) HP:0100245
2 arthralgia 56 Occasional (29-5%)
3 myalgia 56 Frequent (79-30%)
4 chest pain 56 Occasional (29-5%)
5 abdominal pain 56 Frequent (79-30%)
6 malabsorption 56 Frequent (79-30%)
7 abnormality of retinal pigmentation 56 Frequent (79-30%)
8 subcutaneous nodule 56 Very frequent (99-80%)
9 limitation of joint mobility 56 Occasional (29-5%)
10 intestinal obstruction 56 Occasional (29-5%)
11 abnormality of the upper urinary tract 56 Occasional (29-5%)
12 colon cancer 32 HP:0003003
13 fibroma 56 Very frequent (99-80%)
14 abnormality of the musculature 56 Very frequent (99-80%)
15 gastrointestinal hemorrhage 56 Occasional (29-5%)
16 neoplasm of the skin 56 Occasional (29-5%)
17 sepsis 56 Occasional (29-5%)
18 osteolysis 56 Occasional (29-5%)
19 hydronephrosis 56 Occasional (29-5%)
20 intestinal polyposis 56 Frequent (79-30%)
21 abnormality of the abdominal wall 56 Very frequent (99-80%)
22 epidermal cyst 32 HP:0200040

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.85 CTNNB1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.85 CTNNB1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.85 APC
4 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.85 APC CTNNB1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.85 APC
6 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.85 CTNNB1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.85 APC
8 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.85 APC
9 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.85 CTNNB1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.85 CTNNB1 APC
11 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.85 CTNNB1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.85 CTNNB1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.85 CTNNB1 APC
14 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.85 CTNNB1

MGI Mouse Phenotypes related to Desmoid Disease, Hereditary:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 APC CTNNB1

Drugs & Therapeutics for Desmoid Disease, Hereditary

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

(show all 20)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Vet_approved Phase 4 114-07-8 12560
2 Anti-Bacterial Agents Phase 4
3 Anti-Infective Agents Phase 4
4 Erythromycin Estolate Phase 4
5 Erythromycin Ethylsuccinate Phase 4
6 Erythromycin stearate Phase 4
7 Gastrointestinal Agents Phase 4
8
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
9 Protein Kinase Inhibitors Phase 2
10 Cola Nutraceutical Phase 2
11
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757 53477783
12 Estradiol 17 beta-cypionate
13 Estradiol 3-benzoate
14 Estradiol valerate 979-32-8
15 Estrogens
16 Fluorides
17 Hormone Antagonists
18 Hormones
19 Hormones, Hormone Substitutes, and Hormone Antagonists
20 Polyestradiol phosphate

Interventional clinical trials:


id Name Status NCT ID Phase
1 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutations in Familial Adenomatous Polyposis Unknown status NCT02175914 Phase 4
2 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutation in Familial Adenomatous Polyposis-minors' Adjusted Version Not yet recruiting NCT02354560 Phase 4
3 Erlotinib Hydrochloride in Reducing Duodenal Polyp Burden in Patients With Familial Adenomatous Polyposis at Risk of Developing Colon Cancer Not yet recruiting NCT02961374 Phase 2
4 A Cohort Study of Patients Treated With Brachytherapy for Selected Desmoid Patients in Gardner Syndrome Completed NCT01286662
5 18F-FES PET/CT in Imaging Patients With Desmoid Tumors Recruiting NCT02374931

Search NIH Clinical Center for Desmoid Disease, Hereditary

Genetic Tests for Desmoid Disease, Hereditary

Genetic tests related to Desmoid Disease, Hereditary:

id Genetic test Affiliating Genes
1 Desmoid Disease, Hereditary 29 24 APC

Anatomical Context for Desmoid Disease, Hereditary

MalaCards organs/tissues related to Desmoid Disease, Hereditary:

39
Breast, Skin, Colon

Publications for Desmoid Disease, Hereditary

Variations for Desmoid Disease, Hereditary

ClinVar genetic disease variations for Desmoid Disease, Hereditary:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 APC APC, 2-BP INS, CODON 1924 insertion Pathogenic
2 APC NM_000038.5(APC): c.4575_4576ins337 (p.?) insertion Pathogenic GRCh38 Chromosome 5, 112840169: 112840170
3 APC APC, 4-BP DEL, 7929TCTA deletion Pathogenic
4 APC NM_000038.5(APC): c.5826_5829delCAGA (p.Asp1942Glufs) deletion Pathogenic rs864622228 GRCh38 Chromosome 5, 112841420: 112841423

Expression for Desmoid Disease, Hereditary

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

Pathways for Desmoid Disease, Hereditary

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

(show all 30)
id Super pathways Score Top Affiliating Genes
1 12.24 APC CTNNB1
2
Show member pathways
12.15 APC CTNNB1
3
Show member pathways
12.13 APC CTNNB1
4
Show member pathways
12.11 APC CTNNB1
5
Show member pathways
12.07 APC CTNNB1
6 12.03 APC CTNNB1
7 12.03 APC CTNNB1
8
Show member pathways
11.97 APC CTNNB1
9
Show member pathways
11.96 APC CTNNB1
10
Show member pathways
11.87 APC CTNNB1
11 11.86 APC CTNNB1
12
Show member pathways
11.82 APC CTNNB1
13 11.8 APC CTNNB1
14 11.75 APC CTNNB1
15 11.71 APC CTNNB1
16 11.69 APC CTNNB1
17 11.67 APC CTNNB1
18 11.6 APC CTNNB1
19 11.56 APC CTNNB1
20
Show member pathways
11.56 APC CTNNB1
21 11.54 APC CTNNB1
22 11.5 APC CTNNB1
23 11.33 APC CTNNB1
24 11.24 APC CTNNB1
25 11.09 APC CTNNB1
26 10.98 APC CTNNB1
27 10.89 APC CTNNB1
28 10.63 APC CTNNB1
29 10.34 APC CTNNB1
30 9.88 APC CTNNB1

GO Terms for Desmoid Disease, Hereditary

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

id Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.46 APC CTNNB1
2 lamellipodium GO:0030027 9.43 APC CTNNB1
3 bicellular tight junction GO:0005923 9.4 APC CTNNB1
4 cell-cell adherens junction GO:0005913 9.37 APC CTNNB1
5 adherens junction GO:0005912 9.32 APC CTNNB1
6 lateral plasma membrane GO:0016328 9.26 APC CTNNB1
7 Wnt signalosome GO:1990909 9.16 APC CTNNB1
8 beta-catenin destruction complex GO:0030877 8.96 APC CTNNB1
9 catenin complex GO:0016342 8.62 APC CTNNB1

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

id Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.37 APC CTNNB1
2 positive regulation of apoptotic process GO:0043065 9.32 APC CTNNB1
3 Wnt signaling pathway GO:0016055 9.26 APC CTNNB1
4 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.16 APC CTNNB1
5 canonical Wnt signaling pathway GO:0060070 8.96 APC CTNNB1
6 beta-catenin destruction complex disassembly GO:1904886 8.62 APC CTNNB1

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

id Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 8.96 APC CTNNB1
2 cadherin binding GO:0045296 8.62 APC CTNNB1

Sources for Desmoid Disease, Hereditary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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