MCID: HYL002
MIFTS: 12

Hyalinosis, Inherited Systemic

Aliases & Classifications for Hyalinosis, Inherited Systemic

MalaCards integrated aliases for Hyalinosis, Inherited Systemic:

Name: Hyalinosis, Inherited Systemic 24
Hyaline Fibromatosis Syndrome 24
Hyalinosis, Systemic 72

External Ids:

UMLS 72 C2745948

Summaries for Hyalinosis, Inherited Systemic

MalaCards based summary : Hyalinosis, Inherited Systemic, also known as hyaline fibromatosis syndrome, is related to hyaline fibromatosis syndrome and autosomal recessive disease. An important gene associated with Hyalinosis, Inherited Systemic is ANTXR2 (ANTXR Cell Adhesion Molecule 2). Affiliated tissues include skeletal muscle.

GeneReviews: NBK1525

Related Diseases for Hyalinosis, Inherited Systemic

Diseases related to Hyalinosis, Inherited Systemic via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hyaline fibromatosis syndrome 12.0
2 autosomal recessive disease 10.4
3 anthrax disease 10.4
4 dowling-degos disease 1 10.0
5 infertility 10.0
6 hypotonia 10.0
7 protein-losing enteropathy 10.0
8 gingival hypertrophy 10.0
9 fibromatosis 10.0
10 lymphangiectasis 10.0

Graphical network of the top 20 diseases related to Hyalinosis, Inherited Systemic:



Diseases related to Hyalinosis, Inherited Systemic

Symptoms & Phenotypes for Hyalinosis, Inherited Systemic

Drugs & Therapeutics for Hyalinosis, Inherited Systemic

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Biomarker for Hyaline Fibromatosis Syndrome - An International, Multicenter, Epidemiological Protocol Recruiting NCT03196115

Search NIH Clinical Center for Hyalinosis, Inherited Systemic

Genetic Tests for Hyalinosis, Inherited Systemic

Anatomical Context for Hyalinosis, Inherited Systemic

MalaCards organs/tissues related to Hyalinosis, Inherited Systemic:

41
Skeletal Muscle

Publications for Hyalinosis, Inherited Systemic

Articles related to Hyalinosis, Inherited Systemic:

(show all 25)
# Title Authors PMID Year
1
Capillary morphogenesis protein-2 is required for mouse parturition by maintaining uterine collagen homeostasis. 4
22575514 2012
2
Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system. 4
22383261 2012
3
Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors. 4
21328543 2011
4
Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis. 4
20331448 2010
5
Juvenile hyaline fibromatosis and infantile systemic hyalinosis: a unifying term and a proposed grading system. 4
19344977 2009
6
Infantile Systemic Hyalinosis: A Case Report of Compromised Cellular and Humoral Branches of the Immune System Leading to Infections. 4
20563226 2009
7
Heterogeneity and atypical presentation in infantile systemic hyalinosis with severe labio-gingival enlargement: first Egyptian report. 4
19624984 2009
8
The anesthetic management of a child with infantile systemic hyalinosis. 4
18673317 2008
9
Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2). 4
17043134 2006
10
Infantile systemic hyalinosis: a fatal disorder commonly diagnosed among Arabs. 4
16173255 2005
11
A case of bullous pemphigoid arising in juvenile hyaline fibromatosis with oral squamous cell carcinoma. 4
16334866 2005
12
Infantile Systemic Hyalinosis: report of three unrelated Brazilian children and review of the literature. 4
15365459 2004
13
Infantile systemic hyalinosis: a clinicopathological study. 4
15326628 2004
14
Juvenile hyaline fibromatosis. 4
15235211 2004
15
Autosomal dominant inheritance of infantile myofibromatosis. 4
15054839 2004
16
Infantile systemic hyalinosis or juvenile hyaline fibromatosis? 4
15078358 2004
17
Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. 4
12973667 2003
18
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. 4
14508707 2003
19
Human capillary morphogenesis protein 2 functions as an anthrax toxin receptor. 4
12700348 2003
20
Skeletal muscle involvement in infantile systemic hyalinosis. 4
14623219 2003
21
The gene for juvenile hyaline fibromatosis maps to chromosome 4q21. 4
12214284 2002
22
Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature. 4
11298373 2001
23
Juvenile hyaline fibromatosis complicated with oral squamous cell carcinoma: a case report. 4
11174598 2001
24
Juvenile hyaline fibromatosis: clinical heterogeneity in three patients. 4
10026396 1999
25
Hyalinosis, Inherited Systemic 38
20301698 2008

Variations for Hyalinosis, Inherited Systemic

Expression for Hyalinosis, Inherited Systemic

Search GEO for disease gene expression data for Hyalinosis, Inherited Systemic.

Pathways for Hyalinosis, Inherited Systemic

GO Terms for Hyalinosis, Inherited Systemic

Sources for Hyalinosis, Inherited Systemic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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38 LifeMap
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51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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