HFS
MCID: HYL004
MIFTS: 66

Hyaline Fibromatosis Syndrome (HFS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hyaline Fibromatosis Syndrome

MalaCards integrated aliases for Hyaline Fibromatosis Syndrome:

Name: Hyaline Fibromatosis Syndrome 57 12 25 20 43 58 72 36 29 13 6 15
Inherited Systemic Hyalinosis 12 25 20 43
Infantile Systemic Hyalinosis 20 58 72 29
Juvenile Hyaline Fibromatosis 20 58 72 29
Puretic Syndrome 12 20 43 58
Hyalinosis, Systemic 57 44 70
Hfs 57 12 72
Systemic Hyalinosis 12 72
Murray-Puretic-Drescher Syndrome 58
Syndrome, Fibromatosis, Hyaline 39
Hyalinosis, Systemic Infantile 54
Neurofibromatosis 1 70
Molluscum Fibrosum 43
Murray Syndrome 43
Ish 72
Jhf 72

Characteristics:

Orphanet epidemiological data:

58
juvenile hyaline fibromatosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;
infantile systemic hyalinosis
Inheritance: Autosomal recessive; Age of onset: Antenatal,Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
onset at birth or early in childhood


HPO:

31
hyaline fibromatosis syndrome:
Onset and clinical course death in infancy variable expressivity progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Summaries for Hyaline Fibromatosis Syndrome

MedlinePlus Genetics : 43 Hyaline fibromatosis syndrome is a disorder in which a clear (hyaline) substance abnormally accumulates in body tissues. This disorder affects many areas of the body, including the skin, joints, bones, and internal organs. The severity of the signs and symptoms of hyaline fibromatosis syndrome fall along a spectrum. In more severe cases (previously diagnosed as infantile systemic hyalinosis), signs and symptoms are present at birth or begin within the first few months of life and can be life-threatening. In milder cases (previously diagnosed as juvenile hyaline fibromatosis), signs and symptoms begin in childhood and affect fewer body systems.One of the main features of hyaline fibromatosis syndrome is the growth of noncancerous masses of tissue (nodules) under the skin, very commonly on the scalp. In more severely affected individuals, nodules also grow in the muscles and internal organs, causing pain and complications. Some severely affected individuals develop a condition called protein-losing enteropathy due to the formation of nodules in their intestines. This condition results in severe diarrhea, failure to gain weight and grow at the expected rate, and general wasting and weight loss (cachexia).Another common feature of hyaline fibromatosis syndrome is painful skin bumps that frequently appear on the hands, neck, scalp, ears, and nose. They can also develop in joint creases and the genital region. These skin bumps are described as white or pink and pearly. They may be large or small and often increase in number over time.In some affected individuals, especially those with more severe signs and symptoms, the skin covering joints, such as the ankles, wrists, elbows, and finger joints, is unusually dark (hyperpigmented). Hyaline fibromatosis syndrome is also characterized by overgrowth of the gums (gingival hypertrophy), and some affected individuals have thickened skin.Joint stiffness and pain are common in hyaline fibromatosis syndrome, and many affected individuals develop joint deformities called contractures that limit movement. By adulthood, some people with the condition require a wheelchair for mobility. Bone abnormalities can also occur in hyaline fibromatosis syndrome.Although individuals with hyaline fibromatosis syndrome have severe physical limitations, mental development is typically normal. People with milder signs and symptoms live into adulthood, while the most severely affected individuals often do not survive beyond early childhood due to chronic diarrhea and recurrent infections.

MalaCards based summary : Hyaline Fibromatosis Syndrome, also known as inherited systemic hyalinosis, is related to basal cell carcinoma and hypertrichosis, congenital generalized, with or without gingival hyperplasia, and has symptoms including neuralgia An important gene associated with Hyaline Fibromatosis Syndrome is ANTXR2 (ANTXR Cell Adhesion Molecule 2), and among its related pathways/superpathways are Pathways in cancer and Gastric cancer. The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and skeletal muscle, and related phenotypes are macrocephaly and failure to thrive

Disease Ontology : 12 A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has material basis in homozygous or compound heterozygous mutation in ANTXR2 on chromosome 4q21.21.

GARD : 20 Hyaline fibromatosis syndrome (HFS) is a condition characterized by deposits of a clear substance (hyaline) in the skin and in various other body tissues. It typically becomes apparent at birth or in infancy, causing severe pain with movement; progressive joint contractures which limit movement; thickened skin; and hyperpigmented patches over prominences of the joints. Other features may include digestive problems; gum enlargement; skin bumps; pearly papules on the face and neck; and masses near the anus (perianal masses). Complications can be life threatening. Many children with the severe form (previously called infantile systemic hyalinosis ) die in early childhood, while some with a milder form (previously called juvenile hyaline fibromatosis ) survive into adulthood. HFS is caused by mutations in the ANTXR2 gene and is inherited in an autosomal recessive manner. Treatment is supportive and aims to alleviate pain and other signs and symptoms of the condition.

OMIM® : 57 Hyaline fibromatosis syndrome is an autosomal recessive condition characterized by abnormal growth of hyalinized fibrous tissue usually affecting subcutaneous regions on the scalp, ears, neck, face, hands, and feet. The lesions appear as pearly papules or fleshy nodules. The severity is variable. Some individuals present in infancy and have additional visceral or systemic involvement, which can lead to early death. These patients may show intractable diarrhea and increased susceptibility to infection. Other patients have later onset of a milder disorder affecting only the face and digits. Additional features include gingival hypertrophy, progressive joint contractures resulting in severe limitation of mobility, osteopenia, and osteoporosis. Histologic analysis of skin lesions shows proliferation of spindle-shaped cells forming strands in a homogeneous and hyaline eosinophilic extracellular material in the dermis (summary by Denadai et al., 2012). (228600) (Updated 05-Apr-2021)

KEGG : 36 Hyaline fibromatosis syndrome are autosomal recessive disease. Abnormal accumulation of an unidentified hyaline material in body tissues can lead to joint contractures, osteopenia, thickened skin with hyperpigmentation, gingival hypertrophy, and diarrhea.

UniProtKB/Swiss-Prot : 72 Hyaline fibromatosis syndrome: An autosomal recessive syndrome characterized by abnormal growth of hyalinized fibrous tissue usually affecting subcutaneous regions on the scalp, ears, neck, face, hands, and feet. The lesions appear as pearly papules or fleshy nodules. Additional features include gingival hypertrophy, progressive joint contractures resulting in severe limitation of mobility, osteopenia, and osteoporosis. Disease severity is variable. Some individuals manifest symptoms in infancy and have additional visceral or systemic involvement. Hyaline deposits in multiple organs, recurrent infections and intractable diarrhea often lead to early death. Surviving children may suffer from severely reduced mobility due to joint contractures. Other patients have later onset of a milder disorder affecting only the face and digits.

Wikipedia : 73 Juvenile hyaline fibromatosis (also known as "Fibromatosis hyalinica multiplex juvenilis,"... more...

GeneReviews: NBK1525

Related Diseases for Hyaline Fibromatosis Syndrome

Diseases related to Hyaline Fibromatosis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 171)
# Related Disease Score Top Affiliating Genes
1 basal cell carcinoma 29.6 SOX9 SHH LGR5 LEF1 KRT15 KRT14
2 hypertrichosis, congenital generalized, with or without gingival hyperplasia 11.3
3 hemifacial spasm 11.0
4 septooptic dysplasia 10.9
5 reynolds syndrome 10.9
6 fibromatosis 10.8
7 autosomal recessive disease 10.5
8 anthrax disease 10.5
9 gingival hypertrophy 10.4
10 oropharyngeal anthrax 10.4 ANTXR2 ANTXR1
11 gastrointestinal anthrax 10.4 ANTXR2 ANTXR1
12 brain stem medulloblastoma 10.4 SHH CTNNB1
13 micronodular basal cell carcinoma 10.4 SOX9 KRT15 KRT14
14 cutaneous anthrax 10.4 ANTXR2 ANTXR1
15 eccrine sweat gland neoplasm 10.3 KRT15 KRT14
16 inhalation anthrax 10.3 ANTXR2 ANTXR1
17 keratoacanthoma 10.3 KRT15 KRT14 CTNNB1
18 nodular medulloblastoma 10.3 SHH CTNNB1
19 apocrine sweat gland neoplasm 10.3 KRT15 KRT14
20 adamantinous craniopharyngioma 10.3 SHH LEF1 CTNNB1
21 sebaceous gland neoplasm 10.3 LRIG1 LGR6 KRT15 KRT14
22 gingival fibromatosis 10.3
23 sebaceous adenoma 10.3 LRIG1 KRT15
24 cystic basal cell carcinoma 10.3 KRT15 KRT14
25 diarrhea 10.3
26 craniopharyngioma 10.3 SOX9 LEF1 KRT14 CTNNB1
27 basal cell nevus syndrome 10.3 SHH KRT14 CTNNB1
28 hemifacial spasm, familial 10.2
29 alopecia 10.2 KRT15 KRT14 CTNNB1 ANTXR1
30 oral squamous cell carcinoma 10.2
31 infantile myofibromatosis 10.2
32 mucoepidermoid carcinoma 10.2 KRT14 CTNNB1 CDH3
33 ectodermal dysplasia 10.2 LEF1 KRT14 HOXC13 CDH3
34 synchronous bilateral breast carcinoma 10.2 KRT14 CDH3
35 cleidocranial dysplasia 10.2 SOX9 SHH FGF18 DLX3
36 spiradenoma 10.2 KRT15 KRT14
37 brittle bone disorder 10.2 WNT10B SOX9 DLX3 CTNNB1
38 dowling-degos disease 1 10.2
39 protein-losing enteropathy 10.2
40 lymphangiectasis 10.2
41 exanthem 10.1
42 elephantiasis 10.1
43 skin tag 10.1
44 hypertension, essential 10.1
45 hair disease 10.1 KRT15 KRT14 HOXC13 CTNNB1 CDH3 ANTXR1
46 orofacial cleft 10.1 SOX9 SHH FGF18 DLX3 CTNNB1
47 odontochondrodysplasia 10.1 SOX9 SHH FGF18 DLX3 CTNNB1
48 microphthalmia 10.1 SOX9 SHH NFATC1 LEF1 CTNNB1
49 adult t-cell leukemia 10.1
50 t-cell lymphoblastic leukemia/lymphoma 10.1

Graphical network of the top 20 diseases related to Hyaline Fibromatosis Syndrome:



Diseases related to Hyaline Fibromatosis Syndrome

Symptoms & Phenotypes for Hyaline Fibromatosis Syndrome

Human phenotypes related to Hyaline Fibromatosis Syndrome:

58 31 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
3 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
4 osteopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000938
5 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
6 gingival overgrowth 58 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0000212
7 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0001387
8 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
9 lymphedema 58 31 hallmark (90%) Very frequent (99-80%) HP:0001004
10 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
11 abnormal skull morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000929
12 skin ulcer 58 31 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0200042
13 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001482
14 telangiectasia of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0100585
15 polycystic ovaries 58 31 hallmark (90%) Very frequent (99-80%) HP:0000147
16 aplasia/hypoplasia of the thymus 58 31 hallmark (90%) Very frequent (99-80%) HP:0010515
17 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
18 abnormality of the adrenal glands 58 31 hallmark (90%) Very frequent (99-80%) HP:0000834
19 osteomalacia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002749
20 recurrent fractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002757
21 abnormality of dental morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0006482
22 chronic diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002028
23 urticaria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001025
24 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
25 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
26 papule 58 31 hallmark (90%) Very frequent (99-80%) HP:0200034
27 abnormal diaphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000940
28 steatorrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002570
29 thickened skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001072
30 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
31 short palm 58 31 hallmark (90%) Very frequent (99-80%) HP:0004279
32 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
33 hyperpigmentation of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000953
34 recurrent bacterial infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002718
35 hypotonia 31 hallmark (90%) HP:0001252
36 abnormal hair morphology 31 hallmark (90%) HP:0001595
37 aplasia/hypoplasia of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0008065
38 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
39 abnormality of the gastrointestinal tract 58 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0011024
40 osteolysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002797
41 progressive flexion contractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0005876
42 gingival fibromatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000169
43 muscular hypotonia 58 Very frequent (99-80%)
44 malabsorption 58 Very frequent (99-80%)
45 growth delay 58 Very frequent (99-80%)
46 abnormality of the face 58 Very frequent (99-80%)
47 death in infancy 58 Frequent (79-30%)
48 abnormality of the hair 58 Very frequent (99-80%)
49 recurrent infections 31 HP:0002719
50 abnormality of the musculature 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal:
osteopenia
osteoporosis
osteolysis
joint contractures, progressive

Head And Neck Face:
coarse facies

Abdomen Gastrointestinal:
diarrhea (in severe cases)

Immunology:
recurrent infections (in severe cases)

Head And Neck Mouth:
gingival fibromatosis
gingival hypertrophy

Neurologic Central Nervous System:
normal intelligence

Skin Nails Hair Skin:
painful, fleshy papules or nodules (hands, scalp, ears, perinasal area)
subcutaneous tumors, recurring
hyaline deposition in dermis
proliferation of spindle cells

Clinical features from OMIM®:

228600 (Updated 05-Apr-2021)

UMLS symptoms related to Hyaline Fibromatosis Syndrome:


neuralgia

GenomeRNAi Phenotypes related to Hyaline Fibromatosis Syndrome according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.5 WNT10B
2 Increased shRNA abundance (Z-score > 2) GR00366-A-109 9.5 SOX9
3 Increased shRNA abundance (Z-score > 2) GR00366-A-117 9.5 WNT10B
4 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.5 ANTXR1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.5 WNT10B
6 Increased shRNA abundance (Z-score > 2) GR00366-A-155 9.5 WNT10B
7 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.5 SOX9
8 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.5 GRIN2B
9 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.5 ANTXR1 GRIN2B
10 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.5 WNT10B
11 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.5 ANTXR1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.5 WNT10B
13 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.5 CTNNB1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.5 ANTXR1

MGI Mouse Phenotypes related to Hyaline Fibromatosis Syndrome:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.32 ANTXR1 CTNNB1 DLX3 FGF18 HOXC13 KRT14
2 growth/size/body region MP:0005378 10.3 ANTXR1 CTNNB1 DLX3 FGF18 GRIN2B HOXC13
3 cellular MP:0005384 10.26 ANTXR1 ANTXR2 CTNNB1 FGF18 KRT14 LEF1
4 homeostasis/metabolism MP:0005376 10.25 ANTXR2 CTNNB1 DLX3 FGF18 GRIN2B KRT14
5 digestive/alimentary MP:0005381 10.24 CTNNB1 FGF18 HOXC13 KRT14 KRT15 LGR5
6 endocrine/exocrine gland MP:0005379 10.18 ANTXR1 CDH3 CTNNB1 DLX3 KRT14 LEF1
7 integument MP:0010771 10.18 CDH3 CTNNB1 DLX3 FGF18 HOXC13 KRT14
8 mortality/aging MP:0010768 10.13 ANTXR1 ANTXR2 CTNNB1 DLX3 FGF18 GRIN2B
9 limbs/digits/tail MP:0005371 9.92 CTNNB1 FGF18 HOXC13 LEF1 LRIG1 NFATC1
10 hearing/vestibular/ear MP:0005377 9.91 CTNNB1 DLX3 KRT14 LRIG1 SHH SOX9
11 no phenotypic analysis MP:0003012 9.76 ANTXR1 ANTXR2 CTNNB1 GRIN2B LRIG1 SHH
12 respiratory system MP:0005388 9.61 CTNNB1 FGF18 KRT14 LGR5 LHX2 NFATC1
13 skeleton MP:0005390 9.32 ANTXR1 CTNNB1 FGF18 HOXC13 LEF1 LRIG1

Drugs & Therapeutics for Hyaline Fibromatosis Syndrome

Drugs for Hyaline Fibromatosis Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 141)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3
Trametinib Approved Phase 4 871700-17-3 11707110
4
Dabrafenib Approved, Investigational Phase 4 1195765-45-7 44462760 44516822
5 Neurotransmitter Agents Phase 4
6 Dopamine Agents Phase 4
7 Dopamine Uptake Inhibitors Phase 4
8
Sirolimus Approved, Investigational Phase 3 53123-88-9 6436030 5284616
9
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
10
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
11
Lamotrigine Approved, Investigational Phase 2, Phase 3 84057-84-1 3878
12
Chlorhexidine Approved, Vet_approved Phase 2, Phase 3 55-56-1 2713 9552079
13 Tubulin Modulators Phase 3
14 Antimitotic Agents Phase 3
15 Psychotropic Drugs Phase 2, Phase 3
16 Sodium Channel Blockers Phase 2, Phase 3
17 Chlorhexidine gluconate Phase 2, Phase 3
18 Anticonvulsants Phase 2, Phase 3
19 Diuretics, Potassium Sparing Phase 2, Phase 3
20 calcium channel blockers Phase 2, Phase 3
21 Antipsychotic Agents Phase 2, Phase 3
22 Hormones Phase 2, Phase 3
23 Calcium, Dietary Phase 2, Phase 3
24
Calcium Nutraceutical Phase 2, Phase 3 7440-70-2 271
25
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
26
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
27
Peginterferon alfa-2b Approved Phase 2 99210-65-8, 215647-85-1
28
Diclofenac Approved, Vet_approved Phase 2 15307-86-5 3033
29
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
30
Vinblastine Approved Phase 2 865-21-4 241903 13342
31
Bevacizumab Approved, Investigational Phase 2 216974-75-3
32
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
33
Levoleucovorin Approved, Investigational Phase 2 68538-85-2 149436
34
Lapatinib Approved, Investigational Phase 2 231277-92-2, 388082-78-8 208908 9941095
35
Etoposide Approved Phase 2 33419-42-0 36462
36
Ifosfamide Approved Phase 2 3778-73-2 3690
37
Lenograstim Approved, Investigational Phase 2 135968-09-1
38
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
39
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
40
Lactitol Approved, Investigational Phase 2 585-86-4 157355
41
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
42
Aminolevulinic acid Approved Phase 2 106-60-5 137
43
Caffeine Approved Phase 2 58-08-2 2519
44
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
45
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
46
Crizotinib Approved Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
47
Hydroxychloroquine Approved Phase 1, Phase 2 118-42-3 3652
48
Dimethyl sulfoxide Approved, Vet_approved Phase 1, Phase 2 67-68-5 679
49
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
50
Lenalidomide Approved Phase 2 191732-72-6 216326

Interventional clinical trials:

(show top 50) (show all 162)
# Name Status NCT ID Phase Drugs
1 Comportemental and Neuropsychologic Study of Children With Neurofibromatosis Type 1 Treated by Methylphenidate. A Double-blind Randomised Study Methylphenidate Versus Placebo Completed NCT00169611 Phase 4 methylphenidate
2 An Open Label, Multi-center Roll-over Study to Assess Long-term Effect in Pediatric Patients Treated With Tafinlar (Dabrafenib) and/or Mekinist (Trametinib) Recruiting NCT03975829 Phase 4 dabrafenib;trametinib
3 Acceptance and Commitment Training for Adolescents and Young Adults With Neurofibromatosis Type 1, Plexiform Neurofibromas, and Chronic Pain: A Phase III Clinical Trial Completed NCT02471339 Phase 3
4 A Phase 3 Randomized Study of Selumetinib Versus Carboplatin/Vincristine in Newly Diagnosed or Previously Untreated Neurofibromatosis Type 1 (NF1) Associated Low-Grade Glioma (LGG) Recruiting NCT03871257 Phase 3 Carboplatin;Selumetinib Sulfate;Vincristine Sulfate
5 A Long-term Study of NPC-12G Gel in Neurofibromatosis Type I Recruiting NCT04461886 Phase 3 NPC-12G gel
6 The Effect of Lamotrigine on Cognitive Deficits Associated With Neurofibromatosis Type 1: a Phase II Randomized Controlled Multi-centre Trial (NF1-EXCEL) Terminated NCT02256124 Phase 2, Phase 3 Lamotrigine;Placebo
7 Medical Treatment of "High-Risk" Neurofibromas in Patients With Type 1 Neurofibromatosis: A Clinical Trial of Sequential Medical Therapies Unknown status NCT00846430 Phase 2 Peg-Interferon alpha-2b;Celecoxib (Celebrex);Temozolomide (temodar);Vincristine Sulfate (Oncovin)
8 Icotinib Hydrochloride Tablets Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Unknown status NCT02934256 Phase 2 Icotinib
9 Clinical Assessment of the Use of Topical Liquid Diclofenac Following Laser Microporation of Cutaneous Neurofibromas in Patients With Neurofibromatosis Type 1 Completed NCT03090971 Phase 2 Diclofenac Sodium;Saline Solution
10 Phase II Trial of Pirfenidone in Children, Adolescents, and Young Adults With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas Completed NCT00076102 Phase 2 Pirfenidone
11 Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1- CRAD001CUS232T Completed NCT02332902 Phase 2 Everolimus
12 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
13 Open-label, Phase 2 Study of Bevacizumab in Children and Young Adults With Neurofibromatosis 2 and Progressive Vestibular Schwannomas That Are Poor Candidates for Standard Treatment With Surgery or Radiation Completed NCT01767792 Phase 2 Bevacizumab
14 Phase II Trial of Bevacizumab in Patients With Recurrent or Progressive Meningiomas Completed NCT01125046 Phase 2
15 Vinblastine/Methotrexate For Severe Progressive Plexiform Neurofibromas: A Phase II Study Completed NCT00030264 Phase 2 Methotrexate;Vinblastine
16 Pilot Study of Gleevec/Imatinib Mesylate (STI-571, NSC 716051) in Neurofibromatosis (NF1) Patient With Plexiform Neurofibromas Completed NCT01140360 Phase 1, Phase 2 Gleevec
17 Phase II Study of Lapatinib in Children and Adults With Neurofibromatosis Type 2(NF2) and NF2-related Tumors Completed NCT00973739 Phase 2 Lapatinib
18 A Single Arm, Single Center, Phase II Trial of RAD001 as Monotherapy in the Treatment of Neurofibromatosis Type 2 - Related Vestibular Schwannoma Completed NCT01490476 Phase 2 RAD001
19 Phase II Trial of Chemotherapy in Sporadic and Neurofibromatosis Type 1 Associated High Grade Malignant Peripheral Nerve Sheath Tumors Completed NCT00304083 Phase 2 doxorubicin hydrochloride;etoposide;ifosfamide
20 A Phase II Randomized, Cross-Over, Double-Blinded, Placebo-Controlled Trial of the Farnesyltransferase Inhibitor R115777 in Pediatric Patients With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas Completed NCT00021541 Phase 2 tipifarnib
21 A Single Arm Phase 2 Study of the Dual mTORC1/mTORC2 Inhibitor AZD2014 Provided on an Intermittent Schedule for Neurofibromatosis 2 Patients With Progressive or Symptomatic Meningiomas Completed NCT02831257 Phase 2 AZD2014
22 Phase 2 Study of Bevacizumab in Children and Adults With Neurofibromatosis Type 2 and Symptomatic Vestibular Schwannoma Completed NCT01207687 Phase 2
23 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2 Sunitinib
24 A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1 Completed NCT00853580 Phase 2 Lovastatin ™
25 Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01673009 Phase 2 Gleevec
26 Phase II Study of Axitinib in Patients With Neurofibromatosis Type 2 and Progressive Vestibular Schwannomas Completed NCT02129647 Phase 2 Axitinib
27 Recombinant Human Endostatin Injection Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors by Continuous Intravenous Pumping Completed NCT02104323 Phase 2 Endostatin
28 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
29 A Single Arm, Multicenter Phase II a Trial of RAD001 as Monotherapy in the Treatment of Neurofibromatosis 1 Related Internal Plexiform Neurofibromas That Cannot be Removed by Surgery Completed NCT01412892 Phase 2 RAD001: Everolimus
30 Phase II Clinical Trial of Pirfenidone for the Treatment of Patients With Neurofibromatosis Type I Completed NCT00754780 Phase 2 Pirfenidone
31 A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Completed NCT00634270 Phase 2 Sirolimus
32 A Phase 2 Trial of the MEK Inhibitor PD-0325901 in Adolescents and Adults With NF1-Associated Morbid Plexiform Neurofibromas Completed NCT02096471 Phase 2 PD-0325901
33 A Randomized, Double-Blind, Vehicle-Controlled, Parallel Group Phase 2a Study to Determine Safety, Tolerability, Pharmacokinetics, and Pharmacodynamic Activity of NFX-179 Gel in Subjects With Cutaneous Neurofibromas Recruiting NCT04435665 Phase 2 NFX-179 Gel;Vehicle Gel
34 Topical Photodynamic Therapy (PDT) With Levulan® Kerastick® for Benign Dermal Neurofibromas Phase II Recruiting NCT02728388 Phase 2 aminolevulinic acid
35 Treatment of NF1-related Plexiform Neurofibroma With Trametinib; a Single Arm, Open-label Trial With the Goals of Volumetric Partial Remission and Pain Relief Recruiting NCT03741101 Phase 2 Trametinib
36 Phase II Trial of the MEK1/2 Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate in Adults With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas Recruiting NCT02407405 Phase 2 Selumetinib
37 Antioxidant Therapy With N-acetylcysteine for Motor Behavior and/or Learning in Children With Neurofibromatosis Type 1 Recruiting NCT04481048 Phase 2 N-Acetyl cysteine
38 Pilot Study of the MEK1/2 Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) for Adults With Neurofibromatosis Type 1 (NF1) and Cutaneous Neurofibromas (CNF) Recruiting NCT02839720 Phase 2 Selumetinib;Selumetinib Sulfate
39 A Phase 2b Trial of the MEK 1/2 Inhibitor (MEKi) PD-0325901 in Adult and Pediatric Patients With Neurofibromatosis Type 1 (NF1)-Associated Inoperable Plexiform Neurofibromas (PNs) That Are Causing Significant Morbidity Recruiting NCT03962543 Phase 2 Mirdametinib (PD-0325901) oral capsule or dispersible tablet
40 Phase 2 Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors Recruiting NCT03095248 Phase 2 Selumetinib
41 Neurobiology and Treatment of Reading Disability in NF1 Recruiting NCT02964884 Phase 2 Lovastatin;Placebo Oral Tablet
42 Innovative Trial for Understanding the Impact of Targeted Therapies in NF2 (INTUITT-NF2) Recruiting NCT04374305 Phase 2 Brigatinib
43 A Paediatric Phase I/II Study Of Intermittent Dosing Of The Mek-1 Inhibitor Selumetinib In Children With Neurofibromatosis Type-1 And Inoperable Plexiform Neurofibroma And/Or Progressive Optic Pathway Glioma Recruiting NCT03326388 Phase 1, Phase 2 Selumetinib
44 A Phase 2 Study of the MEK Inhibitor Trametinib (NSC# 763093) in Children With Relapsed or Refractory Juvenile Myelomonocytic Leukemia Recruiting NCT03190915 Phase 2 Trametinib
45 A Phase II Trial on the Effect of Low-Dose Versus High-Dose Vitamin D Supplementation on Bone Mass in Adults With Neurofibromatosis Type 1 (NF1) Recruiting NCT01968590 Phase 2 Cholecalciferol
46 Open-label, Phase 2 Clinical Trial of Crizotinib for Children and Adults With Neurofibromatosis Type 2 and Progressive Vestibular Schwannomas Recruiting NCT04283669 Phase 2 Crizotinib
47 Phase I/II Trial of Dabrafenib, Trametinib, and Hydroxychloroquine (HCQ) for BRAF V600E-mutant or Trametinib and HCQ for BRAF Fusion/Duplication Positive or NF1-associated Recurrent or Progressive Gliomas in Children and Young Adults Recruiting NCT04201457 Phase 1, Phase 2 Dabrafenib;Trametinib;Hydroxychloroquine
48 Phase I/II Trial of PLX3397 in Children and Young Adults With Refractory Leukemias and Refractory Solid Tumors Including Neurofibromatosis Type 1 (NF1) Associated Plexiform Neurofibromas (PN) Recruiting NCT02390752 Phase 1, Phase 2 PLX3397
49 SARC031: A Phase 2 Trial of the MEK Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) in Combination With the mTOR Inhibitor Sirolimus for Patients With Unresectable or Metastatic Malignant Peripheral Nerve Sheath Tumors Recruiting NCT03433183 Phase 2 Selumetinib;Sirolimus
50 Immunotherapy Targeting Neurofibromatosis or Schwannomatosis Recruiting NCT04085159 Phase 1, Phase 2

Search NIH Clinical Center for Hyaline Fibromatosis Syndrome

Cochrane evidence based reviews: hyalinosis, systemic

Genetic Tests for Hyaline Fibromatosis Syndrome

Genetic tests related to Hyaline Fibromatosis Syndrome:

# Genetic test Affiliating Genes
1 Hyaline Fibromatosis Syndrome 29 ANTXR2
2 Juvenile Hyaline Fibromatosis 29
3 Infantile Systemic Hyalinosis 29

Anatomical Context for Hyaline Fibromatosis Syndrome

MalaCards organs/tissues related to Hyaline Fibromatosis Syndrome:

40
Skin, Bone, Skeletal Muscle, Thymus, Endothelial

Publications for Hyaline Fibromatosis Syndrome

Articles related to Hyaline Fibromatosis Syndrome:

(show top 50) (show all 76)
# Title Authors PMID Year
1
Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system. 25 61 57 6
22383261 2012
2
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. 6 25 57
14508707 2003
3
Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. 25 6 57
12973667 2003
4
Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis. 6 25
20331448 2010
5
Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis. 57 61
2434938 1986
6
Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation. 25 61
32196989 2020
7
Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome. 61 25
31455396 2019
8
Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations. 61 25
30176098 2018
9
Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation. 25 61
30050362 2018
10
CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome. 25 61
28604699 2017
11
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
12
Infantile systemic hyalinosis: a case report with a novel mutation. 6
23386947 2013
13
The gene for juvenile hyaline fibromatosis maps to chromosome 4q21. 57
12214284 2002
14
Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature. 57
11298373 2001
15
Two siblings with juvenile hyaline fibromatosis: case reports and review of the literature. 57
11206353 1999
16
Juvenile hyaline fibromatosis: impaired collagen metabolism in human skin fibroblasts. 57
9487969 1997
17
Juvenile hyaline fibromatosis: a report of two severe cases. 57
1880654 1991
18
Juvenile hyaline fibromatosis. 57
2433666 1987
19
Juvenile hyaline fibromatosis: two new patients and review of the literature. 57
3544844 1987
20
Congenital generalized fibromatosis with visceral involvement. A case report. 57
7260846 1980
21
[Painful disseminated fibromatosis (systemic hyalinosis): a new hereditary collagen dysplasia]. 57
86330 1978
22
Juvenile hyalin fibromatosis. 57
55105 1976
23
Two cases of juvenile hyalin fibromatosis. Some histological, electron microscopic, and tissue culture observations. 57
4118157 1972
24
[A new type of mucopolysaccharidosis]. 57
4256761 1971
25
Ultrastructure of a fibromatosis hyalinica multiplex juvenilis. 57
5476796 1970
26
A unique form of mesenchymal dysplasia. 57
14489244 1962
27
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
28
Infantile systemic hyalinosis: Report of two severe cases from Saudi Arabia and review of the literature. 25
27195198 2016
29
Intestinal lymphangiectasia in a patient with infantile systemic hyalinosis syndrome: a rare cause of protein-losing enteropathy. 25
22366835 2012
30
Anthrax toxin receptor 2 functions in ECM homeostasis of the murine reproductive tract and promotes MMP activity. 25
22529944 2012
31
Infantile Systemic Hyalinosis: A Case Report of Compromised Cellular and Humoral Branches of the Immune System Leading to Infections. 25
20563226 2009
32
Heterogeneity and atypical presentation in infantile systemic hyalinosis with severe labio-gingival enlargement: first Egyptian report. 25
19624984 2009
33
The anesthetic management of a child with infantile systemic hyalinosis. 25
18673317 2008
34
Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2). 25
17043134 2006
35
A case of bullous pemphigoid arising in juvenile hyaline fibromatosis with oral squamous cell carcinoma. 25
16334866 2005
36
Infantile systemic hyalinosis: a clinicopathological study. 25
15326628 2004
37
Juvenile hyaline fibromatosis. 25
15235211 2004
38
Skeletal muscle involvement in infantile systemic hyalinosis. 25
14623219 2003
39
Juvenile hyaline fibromatosis complicated with oral squamous cell carcinoma: a case report. 25
11174598 2001
40
Two novel compound heterozygous anthrax toxin receptor 2 mutations in a Chinese patient with hyaline fibromatosis syndrome. 61
33615458 2021
41
Hyaline Fibromatosis Syndrome. 61
33723678 2021
42
Novel variation in ANTXR2 gene causing hyaline fibromatosis syndrome: A report from India. 61
33724566 2021
43
[Analysis of pathogenic variants in a Chinese pedigree affected with hyaline fibromatosis syndrome]. 61
33751531 2021
44
Hyaline fibromatosis syndrome: A rare case of multifocal intra-articular involvement. 61
33120290 2021
45
Hyaline fibromatosis syndrome: A case report. 61
32771412 2020
46
Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy. 61
33147779 2020
47
Juvenile Hyaline Fibromatosis: Literature Review and a Case Treated With Surgical Excision and Corticosteroid. 61
33173631 2020
48
Ligand Binding to the Collagen VI Receptor Triggers a Talin-to-RhoA Switch that Regulates Receptor Endocytosis. 61
32428455 2020
49
Gingival Hypertrophy in a Child with Hyaline Fibromatosis Syndrome. 61
32523159 2020
50
Anesthetic Management of an Adult Patient With Hyaline Fibromatosis Syndrome Undergoing Laparoscopic Colectomy: A Case Report. 61
31842195 2020

Variations for Hyaline Fibromatosis Syndrome

ClinVar genetic disease variations for Hyaline Fibromatosis Syndrome:

6 (show top 50) (show all 167)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ANTXR2 NM_058172.6(ANTXR2):c.1179G>A (p.Glu393=) SNV Pathogenic 2598 rs546102223 GRCh37: 4:80905032-80905032
GRCh38: 4:79983878-79983878
2 ANTXR2 NM_058172.6(ANTXR2):c.1142A>G (p.Tyr381Cys) SNV Pathogenic 2599 rs137852901 GRCh37: 4:80905069-80905069
GRCh38: 4:79983915-79983915
3 ANTXR2 NM_058172.6(ANTXR2):c.314G>A (p.Gly105Asp) SNV Pathogenic 2600 rs137852902 GRCh37: 4:80977150-80977150
GRCh38: 4:80055996-80055996
4 ANTXR2 NM_058172.6(ANTXR2):c.986T>G (p.Leu329Arg) SNV Pathogenic 2601 rs137852903 GRCh37: 4:80929730-80929730
GRCh38: 4:80008576-80008576
5 ANTXR2 NM_058172.6(ANTXR2):c.658G>T (p.Glu220Ter) SNV Pathogenic 2602 rs137852904 GRCh37: 4:80957165-80957165
GRCh38: 4:80036011-80036011
6 ANTXR2 NM_058172.6(ANTXR2):c.566T>C (p.Ile189Thr) SNV Pathogenic 2603 rs137852905 GRCh37: 4:80975496-80975496
GRCh38: 4:80054342-80054342
7 ANTXR2 NM_058172.6(ANTXR2):c.1073dup (p.Ala359fs) Duplication Pathogenic 2604 rs312262690 GRCh37: 4:80905985-80905986
GRCh38: 4:79984831-79984832
8 ANTXR2 ANTXR2, 1-BP DEL, 1074T Deletion Pathogenic 39509 GRCh37:
GRCh38:
9 ANTXR2 NM_058172.6(ANTXR2):c.1305del (p.Thr436fs) Deletion Pathogenic 209132 rs797045028 GRCh37: 4:80899203-80899203
GRCh38: 4:79978049-79978049
10 ANTXR2 NM_058172.6(ANTXR2):c.903dup (p.Ser302fs) Duplication Pathogenic 446525 rs1553933367 GRCh37: 4:80940093-80940094
GRCh38: 4:80018939-80018940
11 ANTXR2 NM_058172.6(ANTXR2):c.1069del (p.Ala357fs) Deletion Pathogenic 982062 GRCh37: 4:80905990-80905990
GRCh38: 4:79984836-79984836
12 ANTXR2 NM_058172.6(ANTXR2):c.652T>C (p.Cys218Arg) SNV Pathogenic 974886 GRCh37: 4:80957171-80957171
GRCh38: 4:80036017-80036017
13 ANTXR2 NM_058172.6(ANTXR2):c.1074del (p.Ala359fs) Deletion Pathogenic 419342 rs312262693 GRCh37: 4:80905985-80905985
GRCh38: 4:79984831-79984831
14 ANTXR2 NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro) SNV Pathogenic 280129 rs886041401 GRCh37: 4:80993581-80993581
GRCh38: 4:80072427-80072427
15 ANTXR2 NM_058172.6(ANTXR2):c.720del (p.Ser240fs) Deletion Likely pathogenic 982063 GRCh37: 4:80954702-80954702
GRCh38: 4:80033548-80033548
16 ANTXR2 NM_058172.6(ANTXR2):c.867_945del (p.Glu289fs) Deletion Likely pathogenic 623291 rs1560998734 GRCh37: 4:80940052-80940130
GRCh38: 4:80018898-80018976
17 ANTXR2 NM_058172.6(ANTXR2):c.1190dup (p.Gly397_Asp398insTer) Duplication Likely pathogenic 804442 rs1578125066 GRCh37: 4:80899317-80899318
GRCh38: 4:79978163-79978164
18 ANTXR2 NM_058172.6(ANTXR2):c.770dup (p.Tyr257Ter) Duplication Likely pathogenic 813288 rs1578172709 GRCh37: 4:80954651-80954652
GRCh38: 4:80033497-80033498
19 ANTXR2 NM_058172.6(ANTXR2):c.241T>C (p.Ser81Pro) SNV Likely pathogenic 209133 rs797045029 GRCh37: 4:80990645-80990645
GRCh38: 4:80069491-80069491
20 ANTXR2 NM_058172.6(ANTXR2):c.1148G>A (p.Gly383Asp) SNV Likely pathogenic 266112 rs886039907 GRCh37: 4:80905063-80905063
GRCh38: 4:79983909-79983909
21 ANTXR2 NM_058172.6(ANTXR2):c.252G>A (p.Val84=) SNV Uncertain significance 349885 rs886059657 GRCh37: 4:80990634-80990634
GRCh38: 4:80069480-80069480
22 ANTXR2 NM_058172.6(ANTXR2):c.98C>T (p.Ala33Val) SNV Uncertain significance 349888 rs756775841 GRCh37: 4:80993617-80993617
GRCh38: 4:80072463-80072463
23 ANTXR2 NM_058172.6(ANTXR2):c.-130G>A SNV Uncertain significance 349891 rs886059659 GRCh37: 4:80993844-80993844
GRCh38: 4:80072690-80072690
24 ANTXR2 NM_001286780.2(ANTXR2):c.-80+121A>T SNV Uncertain significance 349903 rs886059665 GRCh37: 4:80994428-80994428
GRCh38: 4:80073274-80073274
25 ANTXR2 NM_058172.6(ANTXR2):c.-455C>T SNV Uncertain significance 349900 rs886059664 GRCh37: 4:80994169-80994169
GRCh38: 4:80073015-80073015
26 ANTXR2 NM_058172.6(ANTXR2):c.233T>C (p.Met78Thr) SNV Uncertain significance 349886 rs886059658 GRCh37: 4:80990653-80990653
GRCh38: 4:80069499-80069499
27 ANTXR2 NM_058172.6(ANTXR2):c.-5G>A SNV Uncertain significance 349889 rs765908500 GRCh37: 4:80993719-80993719
GRCh38: 4:80072565-80072565
28 ANTXR2 NM_058172.6(ANTXR2):c.637-21dup Duplication Uncertain significance 349880 rs373672335 GRCh37: 4:80957195-80957196
GRCh38: 4:80036041-80036042
29 ANTXR2 NM_058172.6(ANTXR2):c.1392C>A (p.Asp464Glu) SNV Uncertain significance 349872 rs770869771 GRCh37: 4:80898811-80898811
GRCh38: 4:79977657-79977657
30 ANTXR2 NM_058172.6(ANTXR2):c.-366G>C SNV Uncertain significance 349895 rs886059661 GRCh37: 4:80994080-80994080
GRCh38: 4:80072926-80072926
31 ANTXR2 NM_058172.6(ANTXR2):c.-505G>C SNV Uncertain significance 349901 rs780730755 GRCh37: 4:80994219-80994219
GRCh38: 4:80073065-80073065
32 ANTXR2 NM_058172.6(ANTXR2):c.-441C>T SNV Uncertain significance 349898 rs778888047 GRCh37: 4:80994155-80994155
GRCh38: 4:80073001-80073001
33 ANTXR2 NM_058172.6(ANTXR2):c.712G>A (p.Val238Ile) SNV Uncertain significance 903666 GRCh37: 4:80954710-80954710
GRCh38: 4:80033556-80033556
34 ANTXR2 NM_058172.6(ANTXR2):c.380C>T (p.Ala127Val) SNV Uncertain significance 903667 GRCh37: 4:80976620-80976620
GRCh38: 4:80055466-80055466
35 ANTXR2 NM_058172.6(ANTXR2):c.*4332G>A SNV Uncertain significance 904597 GRCh37: 4:80824251-80824251
GRCh38: 4:79903097-79903097
36 ANTXR2 NM_058172.6(ANTXR2):c.1347+9C>T SNV Uncertain significance 349873 rs112023055 GRCh37: 4:80899152-80899152
GRCh38: 4:79977998-79977998
37 ANTXR2 NM_058172.6(ANTXR2):c.-410dup Duplication Uncertain significance 349896 rs886059662 GRCh37: 4:80994123-80994124
GRCh38: 4:80072969-80072970
38 ANTXR2 NM_058172.6(ANTXR2):c.745C>T (p.Arg249Trp) SNV Uncertain significance 349879 rs377185226 GRCh37: 4:80954677-80954677
GRCh38: 4:80033523-80033523
39 ANTXR2 NM_058172.6(ANTXR2):c.-442C>G SNV Uncertain significance 349899 rs886059663 GRCh37: 4:80994156-80994156
GRCh38: 4:80073002-80073002
40 ANTXR2 NM_058172.6(ANTXR2):c.-262A>G SNV Uncertain significance 349893 rs886059660 GRCh37: 4:80993976-80993976
GRCh38: 4:80072822-80072822
41 ANTXR2 NM_058172.6(ANTXR2):c.*4264T>A SNV Uncertain significance 904599 GRCh37: 4:80824319-80824319
GRCh38: 4:79903165-79903165
42 ANTXR2 NM_058172.6(ANTXR2):c.*4223T>C SNV Uncertain significance 904600 GRCh37: 4:80824360-80824360
GRCh38: 4:79903206-79903206
43 ANTXR2 NM_058172.6(ANTXR2):c.*4201A>G SNV Uncertain significance 904601 GRCh37: 4:80824382-80824382
GRCh38: 4:79903228-79903228
44 ANTXR2 NM_058172.6(ANTXR2):c.*4194C>T SNV Uncertain significance 904602 GRCh37: 4:80824389-80824389
GRCh38: 4:79903235-79903235
45 ANTXR2 NM_058172.6(ANTXR2):c.*4058A>T SNV Uncertain significance 904603 GRCh37: 4:80824525-80824525
GRCh38: 4:79903371-79903371
46 ANTXR2 NM_058172.6(ANTXR2):c.*2226A>T SNV Uncertain significance 904670 GRCh37: 4:80826357-80826357
GRCh38: 4:79905203-79905203
47 ANTXR2 NM_058172.6(ANTXR2):c.*2225A>G SNV Uncertain significance 904671 GRCh37: 4:80826358-80826358
GRCh38: 4:79905204-79905204
48 ANTXR2 NM_058172.6(ANTXR2):c.*2187A>C SNV Uncertain significance 904672 GRCh37: 4:80826396-80826396
GRCh38: 4:79905242-79905242
49 ANTXR2 NM_058172.6(ANTXR2):c.*752C>G SNV Uncertain significance 904738 GRCh37: 4:80827831-80827831
GRCh38: 4:79906677-79906677
50 ANTXR2 NM_058172.6(ANTXR2):c.*728G>A SNV Uncertain significance 904739 GRCh37: 4:80827855-80827855
GRCh38: 4:79906701-79906701

UniProtKB/Swiss-Prot genetic disease variations for Hyaline Fibromatosis Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 ANTXR2 p.Leu45Pro VAR_022687 rs886041401
2 ANTXR2 p.Gly105Asp VAR_022688 rs137852902
3 ANTXR2 p.Ile189Thr VAR_022689 rs137852905
4 ANTXR2 p.Cys218Arg VAR_022690 rs781637328
5 ANTXR2 p.Leu329Arg VAR_022692 rs137852903
6 ANTXR2 p.Tyr381Cys VAR_022694 rs137852901

Expression for Hyaline Fibromatosis Syndrome

Search GEO for disease gene expression data for Hyaline Fibromatosis Syndrome.

Pathways for Hyaline Fibromatosis Syndrome

GO Terms for Hyaline Fibromatosis Syndrome

Cellular components related to Hyaline Fibromatosis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 beta-catenin-TCF complex GO:1990907 8.96 LEF1 CTNNB1
2 transcription factor complex GO:0005667 8.92 SOX9 NFATC1 LEF1 CTNNB1

Biological processes related to Hyaline Fibromatosis Syndrome according to GeneCards Suite gene sharing:

(show all 42)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.24 WNT10B SOX9 NFATC1 LHX2 LEF1 HOXC13
2 regulation of transcription, DNA-templated GO:0006355 10.22 SOX9 SHH NFATC1 LHX2 LEF1 HOXC13
3 positive regulation of transcription, DNA-templated GO:0045893 10.09 SOX9 SHH NFATC1 LHX2 LEF1 CTNNB1
4 positive regulation of cell proliferation GO:0008284 10.02 WNT10B SOX9 SHH LEF1 FGF18 CTNNB1
5 Wnt signaling pathway GO:0016055 9.95 WNT10B LGR6 LEF1 CTNNB1
6 positive regulation of gene expression GO:0010628 9.95 SOX9 SHH LEF1 FGF18 CTNNB1 CDH3
7 regulation of cell proliferation GO:0042127 9.94 SOX9 SHH LGR5 CTNNB1
8 positive regulation of transcription by RNA polymerase II GO:0045944 9.91 WNT10B SOX9 SHH NFATC1 LHX2 LEF1
9 positive regulation of canonical Wnt signaling pathway GO:0090263 9.89 WNT10B LGR6 LGR5 CDH3
10 lung development GO:0030324 9.85 SHH FGF18 CTNNB1
11 cell fate commitment GO:0045165 9.82 WNT10B SOX9 SHH
12 epithelial to mesenchymal transition GO:0001837 9.77 SOX9 LEF1 CTNNB1
13 dorsal/ventral pattern formation GO:0009953 9.75 SHH LHX2 CTNNB1
14 branching involved in ureteric bud morphogenesis GO:0001658 9.74 SOX9 SHH CTNNB1
15 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.73 NFATC1 LEF1 CTNNB1
16 cell fate specification GO:0001708 9.71 SOX9 SHH CTNNB1
17 hindbrain development GO:0030902 9.69 SHH CTNNB1
18 chondrocyte development GO:0002063 9.68 SOX9 FGF18
19 anatomical structure formation involved in morphogenesis GO:0048646 9.68 SHH LHX2
20 positive regulation of chondrocyte differentiation GO:0032332 9.68 SOX9 FGF18
21 male genitalia development GO:0030539 9.68 SHH CTNNB1
22 prostate gland development GO:0030850 9.67 SOX9 SHH
23 branching involved in blood vessel morphogenesis GO:0001569 9.67 SHH LEF1 CTNNB1
24 canonical Wnt signaling pathway GO:0060070 9.67 WNT10B SHH LEF1 CTNNB1
25 ectoderm development GO:0007398 9.66 SHH CTNNB1
26 regulation of proteolysis GO:0030162 9.66 SHH SERPINB4
27 limb bud formation GO:0060174 9.65 SOX9 SHH
28 positive regulation of skeletal muscle tissue development GO:0048643 9.63 SHH CTNNB1
29 embryonic foregut morphogenesis GO:0048617 9.63 SHH CTNNB1
30 vasculature development GO:0001944 9.63 SHH LEF1 CTNNB1
31 telencephalon regionalization GO:0021978 9.62 SHH LHX2
32 odontogenesis of dentin-containing tooth GO:0042475 9.62 SHH LEF1 DLX3 CTNNB1
33 negative regulation of mesenchymal cell apoptotic process GO:2001054 9.61 SOX9 SHH
34 lung-associated mesenchyme development GO:0060484 9.61 SHH CTNNB1
35 positive regulation of mesenchymal cell proliferation GO:0002053 9.61 SOX9 SHH CTNNB1
36 trachea morphogenesis GO:0060439 9.58 SHH CTNNB1
37 epithelial tube branching involved in lung morphogenesis GO:0060441 9.58 SOX9 SHH CTNNB1
38 mesenchymal cell proliferation involved in lung development GO:0060916 9.52 SHH CTNNB1
39 positive regulation of epithelial cell proliferation involved in prostate gland development GO:0060769 9.51 SHH CTNNB1
40 hair cycle process GO:0022405 9.33 LRIG1 CTNNB1 CDH3
41 positive regulation of epithelial cell differentiation GO:0030858 9.13 WNT10B SOX9 CTNNB1
42 hair follicle development GO:0001942 9.02 SOX9 SHH LHX2 LGR5 HOXC13

Molecular functions related to Hyaline Fibromatosis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific double-stranded DNA binding GO:1990837 9.77 SOX9 NFATC1 LEF1 HOXC13 DLX3
2 transmembrane signaling receptor activity GO:0004888 9.56 LGR6 LGR5 ANTXR2 ANTXR1
3 beta-catenin binding GO:0008013 9.5 SOX9 LEF1 CTNNB1
4 chromatin binding GO:0003682 9.43 SOX9 LHX2 LEF1 HOXC13 DLX3 CTNNB1
5 protein-hormone receptor activity GO:0016500 9.16 LGR6 LGR5
6 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.1 SOX9 NFATC1 LHX2 LEF1 HOXC13 DLX3

Sources for Hyaline Fibromatosis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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