HFS
MCID: HYL004
MIFTS: 50

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 56 12 24 52 25 58 73 36 29 13 6
Puretic Syndrome 12 52 25 58
Inherited Systemic Hyalinosis 12 52 25
Infantile Systemic Hyalinosis 52 58 73
Juvenile Hyaline Fibromatosis 52 58 73
Hyalinosis, Systemic 56 43 71
Hfs 56 12 73
Systemic Hyalinosis 12 73
Murray-Puretic-Drescher Syndrome 58
Syndrome, Fibromatosis, Hyaline 39
Hyalinosis, Inherited Systemic 24
Hyalinosis, Systemic Infantile 54
Neurofibromatosis 1 71
Molluscum Fibrosum 25
Murray Syndrome 25
Ish 73
Jhf 73

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:

56
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:

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


Summaries for Hyaline Fibromatosis Syndrome

Genetics Home Reference : 25 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 puretic syndrome, is related to congestive heart failure and hydrops fetalis, nonimmune, and has symptoms including neuralgia An important gene associated with Hyaline Fibromatosis Syndrome is ANTXR2 (ANTXR Cell Adhesion Molecule 2). The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and heart, and related phenotypes are macrocephaly and short neck

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.

NIH Rare Diseases : 52 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 : 56 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)

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 : 73 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 : 74 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 260)
# Related Disease Score Top Affiliating Genes
1 congestive heart failure 11.7
2 hydrops fetalis, nonimmune 11.7
3 hemifacial spasm 11.5
4 hypertrichosis, congenital generalized, with or without gingival hyperplasia 11.5
5 marburg hemorrhagic fever 11.4
6 septooptic dysplasia 11.3
7 reynolds syndrome 11.3
8 immune hydrops fetalis 11.2
9 chapare hemorrhagic fever 11.2
10 heart disease 11.0
11 fibromatosis 10.7
12 systolic heart failure 10.7
13 iron metabolism disease 10.5
14 diarrhea 10.5
15 autosomal recessive disease 10.5
16 sleep apnea 10.4
17 mitral valve insufficiency 10.4
18 protein-losing enteropathy 10.4
19 cardiac conduction defect 10.4
20 central sleep apnea 10.4
21 gingival hypertrophy 10.4
22 anthrax disease 10.4
23 pulmonary disease, chronic obstructive 10.3
24 chronic kidney disease 10.3
25 atrioventricular block 10.3
26 dilated cardiomyopathy 10.3
27 elephantiasis 10.3
28 skin tag 10.3
29 gingival fibromatosis 10.3
30 progressive familial heart block, type ia 10.3
31 atrial fibrillation 10.3
32 breast cancer 10.3
33 hypertension, essential 10.3
34 ischemia 10.2
35 kidney disease 10.2
36 oral squamous cell carcinoma 10.2
37 infantile myofibromatosis 10.2
38 squamous cell carcinoma 10.2
39 hard palate cancer 10.2
40 adult t-cell leukemia 10.2
41 t-cell leukemia 10.2
42 ventricular fibrillation, paroxysmal familial, 1 10.2
43 resting heart rate, variation in 10.2
44 left bundle branch hemiblock 10.2
45 heart valve disease 10.2
46 muscular atrophy 10.2
47 diastolic heart failure 10.2
48 48,xyyy 10.2
49 adenocarcinoma 10.2
50 dowling-degos disease 1 10.2

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 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
3 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
4 osteopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000938
5 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
6 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
7 gingival overgrowth 58 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0000212
8 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0001387
9 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
10 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
11 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
12 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001482
13 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
14 telangiectasia of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0100585
15 papule 58 31 hallmark (90%) Very frequent (99-80%) HP:0200034
16 skin ulcer 58 31 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0200042
17 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
18 short palm 58 31 hallmark (90%) Very frequent (99-80%) HP:0004279
19 urticaria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001025
20 thickened skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001072
21 lymphedema 58 31 hallmark (90%) Very frequent (99-80%) HP:0001004
22 abnormality of the adrenal glands 58 31 hallmark (90%) Very frequent (99-80%) HP:0000834
23 polycystic ovaries 58 31 hallmark (90%) Very frequent (99-80%) HP:0000147
24 aplasia/hypoplasia of the thymus 58 31 hallmark (90%) Very frequent (99-80%) HP:0010515
25 osteomalacia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002749
26 recurrent fractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002757
27 chronic diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002028
28 abnormality of dental morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0006482
29 recurrent bacterial infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002718
30 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
31 abnormal diaphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000940
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 steatorrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002570
35 abnormal hair morphology 31 hallmark (90%) HP:0001595
36 abnormal skull morphology 31 hallmark (90%) HP:0000929
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 osteolysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002797
40 abnormality of the gastrointestinal tract 58 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0011024
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 malabsorption 58 Very frequent (99-80%)
44 death in infancy 58 Frequent (79-30%)
45 growth delay 58 Very frequent (99-80%)
46 abnormality of the skull 58 Very frequent (99-80%)
47 abnormality of the face 58 Very frequent (99-80%)
48 abnormality of the musculature 58 Very frequent (99-80%)
49 recurrent infections 31 HP:0002719
50 diarrhea 31 HP:0002014

Symptoms via clinical synopsis from OMIM:

56
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

UMLS symptoms related to Hyaline Fibromatosis Syndrome:


neuralgia

Drugs & Therapeutics for Hyaline Fibromatosis Syndrome

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

(show top 50) (show all 138)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
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 Dopamine Uptake Inhibitors Phase 4
6 Neurotransmitter Agents Phase 4
7 Dopamine Agents Phase 4
8
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
9
Lamotrigine Approved, Investigational Phase 2, Phase 3 84057-84-1 3878
10
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
11
Calcium Approved, Nutraceutical Phase 2, Phase 3 7440-70-2 271
12 Antimitotic Agents Phase 3
13 Antipsychotic Agents Phase 2, Phase 3
14 Tranquilizing Agents Phase 2, Phase 3
15 Chlorhexidine gluconate Phase 2, Phase 3
16 Psychotropic Drugs Phase 2, Phase 3
17 Anticonvulsants Phase 2, Phase 3
18 Central Nervous System Depressants Phase 2, Phase 3
19 Calcium, Dietary Phase 2, Phase 3
20 calcium channel blockers Phase 2, Phase 3
21 Sodium Channel Blockers Phase 2, Phase 3
22 Diuretics, Potassium Sparing Phase 2, Phase 3
23 Hormones Phase 2, Phase 3
24
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
25
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
26
Peginterferon alfa-2b Approved Phase 2 215647-85-1, 99210-65-8
27
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
28
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
29
leucovorin Approved Phase 2 58-05-9 6006 143
30
Vinblastine Approved Phase 2 865-21-4 13342 241903
31
Diclofenac Approved, Vet_approved Phase 2 15307-86-5 3033
32
Lapatinib Approved, Investigational Phase 2 231277-92-2, 388082-78-8 208908 9941095
33
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
34
Etoposide Approved Phase 2 33419-42-0 36462
35
Ifosfamide Approved Phase 2 3778-73-2 3690
36
Lenograstim Approved, Investigational Phase 2 135968-09-1
37
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
38
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
39
Aminolevulinic acid Approved Phase 2 106-60-5 137
40
Caffeine Approved Phase 2 58-08-2 2519
41
Bevacizumab Approved, Investigational Phase 2 216974-75-3
42
Lenalidomide Approved Phase 2 191732-72-6 216326
43
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
44
Hydroxychloroquine Approved Phase 1, Phase 2 118-42-3 3652
45
Dimethyl sulfoxide Approved, Vet_approved Phase 1, Phase 2 67-68-5 679
46
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
47
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
48
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
49
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
50
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563

Interventional clinical trials:

(show top 50) (show all 146)
# 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) Not yet recruiting NCT03975829 Phase 4 dabrafenib;trametinib
3 The Effect of Lamotrigine on Cognitive Deficits Associated With Neurofibromatosis Type 1: a Phase II Randomized Controlled Multi-centre Trial (NF1-EXCEL) Recruiting NCT02256124 Phase 2, Phase 3 Lamotrigine;Placebo
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;Selumetinib Sulfate;Vincristine;Vincristine Sulfate
5 Acceptance and Commitment Training for Adolescents and Young Adults With Neurofibromatosis Type 1, Plexiform Neurofibromas, and Chronic Pain: A Phase III Clinical Trial Recruiting NCT02471339 Phase 3
6 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)
7 Icotinib Hydrochloride Tablets Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Unknown status NCT02934256 Phase 2 Icotinib
8 Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1- CRAD001CUS232T Completed NCT02332902 Phase 2 Everolimus
9 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
10 Phase II Clinical Trial of Pirfenidone for the Treatment of Patients With Neurofibromatosis Type I Completed NCT00754780 Phase 2 Pirfenidone
11 Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01673009 Phase 2 Gleevec
12 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
13 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
14 Vinblastine/Methotrexate For Severe Progressive Plexiform Neurofibromas: A Phase II Study Completed NCT00030264 Phase 2 Methotrexate;Vinblastine
15 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2 Sunitinib
16 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
17 Pilot Study of Gleevec/Imatinib Mesylate (STI-571, NSC 716051) in Neurofibromatosis (NF1) Patient With Plexiform Neurofibromas Completed NCT01140360 Phase 1, Phase 2 Gleevec
18 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
19 Phase II Trial of Pirfenidone in Children, Adolescents, and Young Adults With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas Completed NCT00076102 Phase 2 Pirfenidone
20 A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1 Completed NCT00853580 Phase 2 Lovastatin ™
21 Phase II Study of Lapatinib in Children and Adults With Neurofibromatosis Type 2(NF2) and NF2-related Tumors Completed NCT00973739 Phase 2 Lapatinib
22 Phase 2 Study of Bevacizumab in Children and Adults With Neurofibromatosis Type 2 and Symptomatic Vestibular Schwannoma Completed NCT01207687 Phase 2
23 A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Completed NCT00634270 Phase 2 Sirolimus
24 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
25 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
26 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
27 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
28 Phase 2 Study of Imatinib in Children With Neurofibromatosis and Airway Tumors Recruiting NCT03688568 Phase 2 Imatinib Mesylate
29 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 PD-0325901 oral capsule
30 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
31 Topical Photodynamic Therapy (PDT) With Levulan® Kerastick® for Benign Dermal Neurofibromas Phase II Recruiting NCT02728388 Phase 2 aminolevulinic acid
32 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
33 Phase 2 Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors Recruiting NCT03095248 Phase 2 Selumetinib
34 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
35 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
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 Neurobiology and Treatment of Reading Disability in NF1 Recruiting NCT02964884 Phase 2 Lovastatin;Placebo Oral Tablet
38 Immunotherapy Targeting Neurofibromatosis or Schwannomatosis Recruiting NCT04085159 Phase 1, Phase 2
39 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
40 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
41 A Phase II Study of Binimetinib in Children and Adults With NF1 Associated Plexiform Neurofibromas (PNOC010) Recruiting NCT03231306 Phase 2 Binimetinib
42 A Phase 1 and Phase II and Re-Treatment Study of AZD6244 for Recurrent or Refractory Pediatric Low Grade Glioma Recruiting NCT01089101 Phase 1, Phase 2 Selumetinib
43 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
44 A Phase II Study of Cabozantinib (XL184) for Plexiform Neurofibromas in Subjects With Neurofibromatosis Type 1 in Children and Adults Recruiting NCT02101736 Phase 2 Cabozantinib
45 A Study of INFUSE Bone Graft (Recombinant Human Bone Morphogenetic Protein-2/Absorbable Collagen Sponge) in the Treatment of Tibial Pseudarthrosis in Neurofibromatosis 1 (NF1) Active, not recruiting NCT02718131 Phase 2
46 A Single Arm, Monocenter Phase II Trial of RAD001 as Monotherapy in the Treatment of Neurofibromatosis Type 2 - Related Vestibular Schwannoma Active, not recruiting NCT01345136 Phase 2 RAD001, everolimus
47 Phase II Trial of Bevacizumab in Patients With Recurrent or Progressive Meningiomas Active, not recruiting NCT01125046 Phase 2
48 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 Active, not recruiting NCT02831257 Phase 2 AZD2014
49 A Phase I/II Study of the Mitogen Activated Protein Kinase Kinase (MEK) 1 Inhibitor Selumetinib (AZD6244; HYD Sulfate) in Children With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas (PN) Active, not recruiting NCT01362803 Phase 1, Phase 2 AZD6244
50 A Phase II Randomized Trial of Lenalidomide (NSC # 703813) in Pediatric Patients With Recurrent, Refractory or Progressive Juvenile Pilocytic Astrocytomas and Optic Pathway Gliomas Active, not recruiting NCT01553149 Phase 2 Lenalidomide

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

Anatomical Context for Hyaline Fibromatosis Syndrome

MalaCards organs/tissues related to Hyaline Fibromatosis Syndrome:

40
Skin, Bone, Heart, T Cells, Brain, Liver, B Cells

Publications for Hyaline Fibromatosis Syndrome

Articles related to Hyaline Fibromatosis Syndrome:

(show top 50) (show all 66)
# Title Authors PMID Year
1
Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system. 61 24 56 6
22383261 2012
2
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. 24 56 6
14508707 2003
3
Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. 24 56 6
12973667 2003
4
Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis. 24 6
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The gene for juvenile hyaline fibromatosis maps to chromosome 4q21. 24 56
12214284 2002
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Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature. 24 56
11298373 2001
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Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis. 61 56
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Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors. 61 24
21328543 2011
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Juvenile hyaline fibromatosis and infantile systemic hyalinosis: a unifying term and a proposed grading system. 61 24
19344977 2009
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Hyalinosis, Inherited Systemic 6
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Two siblings with juvenile hyaline fibromatosis: case reports and review of the literature. 56
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Juvenile hyaline fibromatosis: impaired collagen metabolism in human skin fibroblasts. 56
9487969 1997
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Juvenile hyaline fibromatosis: a report of two severe cases. 56
1880654 1991
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Juvenile hyaline fibromatosis: two new patients and review of the literature. 56
3544844 1987
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Juvenile hyaline fibromatosis. 56
2433666 1987
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Congenital generalized fibromatosis with visceral involvement. A case report. 56
7260846 1980
17
[Painful disseminated fibromatosis (systemic hyalinosis): a new hereditary collagen dysplasia]. 56
86330 1978
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Juvenile hyalin fibromatosis. 56
55105 1976
19
Two cases of juvenile hyalin fibromatosis. Some histological, electron microscopic, and tissue culture observations. 56
4118157 1972
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[A new type of mucopolysaccharidosis]. 56
4256761 1971
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Ultrastructure of a fibromatosis hyalinica multiplex juvenilis. 56
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A unique form of mesenchymal dysplasia. 56
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Capillary morphogenesis protein-2 is required for mouse parturition by maintaining uterine collagen homeostasis. 24
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Infantile Systemic Hyalinosis: A Case Report of Compromised Cellular and Humoral Branches of the Immune System Leading to Infections. 24
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Heterogeneity and atypical presentation in infantile systemic hyalinosis with severe labio-gingival enlargement: first Egyptian report. 24
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The anesthetic management of a child with infantile systemic hyalinosis. 24
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Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2). 24
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Infantile systemic hyalinosis: a fatal disorder commonly diagnosed among Arabs. 24
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29
A case of bullous pemphigoid arising in juvenile hyaline fibromatosis with oral squamous cell carcinoma. 24
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Infantile Systemic Hyalinosis: report of three unrelated Brazilian children and review of the literature. 24
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Infantile systemic hyalinosis: a clinicopathological study. 24
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Autosomal dominant inheritance of infantile myofibromatosis. 24
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Juvenile hyaline fibromatosis. 24
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Infantile systemic hyalinosis or juvenile hyaline fibromatosis? 24
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Human capillary morphogenesis protein 2 functions as an anthrax toxin receptor. 24
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Skeletal muscle involvement in infantile systemic hyalinosis. 24
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Juvenile hyaline fibromatosis complicated with oral squamous cell carcinoma: a case report. 24
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Juvenile hyaline fibromatosis: clinical heterogeneity in three patients. 24
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Anesthetic Management of an Adult Patient With Hyaline Fibromatosis Syndrome Undergoing Laparoscopic Colectomy: A Case Report. 61
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Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome. 61
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Converging physiological roles of the anthrax toxin receptors. 61
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Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations. 61
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Two novel mutations in the ANTXR2 gene in a Chinese patient suffering from hyaline fibromatosis syndrome: A case report. 61
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The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series. 61
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Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis): whole-body MR findings in two siblings with different subcutaneous nodules distribution. 61
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Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation. 61
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CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome. 61
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Erratum to: Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome. 61
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Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 Gene. 61
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Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome. 61
28103792 2017

Variations for Hyaline Fibromatosis Syndrome

ClinVar genetic disease variations for Hyaline Fibromatosis Syndrome:

6 (show all 47) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ANTXR2 NM_058172.6(ANTXR2):c.1179G>A (p.Glu393=)SNV Pathogenic 2598 rs546102223 4:80905032-80905032 4:79983878-79983878
2 ANTXR2 NM_058172.6(ANTXR2):c.1142A>G (p.Tyr381Cys)SNV Pathogenic 2599 rs137852901 4:80905069-80905069 4:79983915-79983915
3 ANTXR2 NM_058172.6(ANTXR2):c.314G>A (p.Gly105Asp)SNV Pathogenic 2600 rs137852902 4:80977150-80977150 4:80055996-80055996
4 ANTXR2 NM_058172.6(ANTXR2):c.986T>G (p.Leu329Arg)SNV Pathogenic 2601 rs137852903 4:80929730-80929730 4:80008576-80008576
5 ANTXR2 NM_058172.6(ANTXR2):c.658G>T (p.Glu220Ter)SNV Pathogenic 2602 rs137852904 4:80957165-80957165 4:80036011-80036011
6 ANTXR2 NM_058172.6(ANTXR2):c.566T>C (p.Ile189Thr)SNV Pathogenic 2603 rs137852905 4:80975496-80975496 4:80054342-80054342
7 ANTXR2 NM_058172.6(ANTXR2):c.1073dup (p.Ala359fs)duplication Pathogenic 2604 rs312262690 4:80905985-80905986 4:79984831-79984832
8 ANTXR2 ANTXR2, 1-BP DEL, 1074Tdeletion Pathogenic 39509
9 ANTXR2 NM_058172.6(ANTXR2):c.1305del (p.Thr436fs)deletion Pathogenic 209132 rs797045028 4:80899203-80899203 4:79978049-79978049
10 ANTXR2 NM_058172.6(ANTXR2):c.903dup (p.Ser302fs)duplication Pathogenic 446525 rs1553933367 4:80940093-80940094 4:80018939-80018940
11 ANTXR2 NM_058172.6(ANTXR2):c.867_945del (p.Glu289fs)deletion Likely pathogenic 623291 rs1560998734 4:80940052-80940130 4:80018898-80018976
12 ANTXR2 NM_058172.6(ANTXR2):c.1190dup (p.Gly397_Asp398insTer)duplication Likely pathogenic 804442 4:80899317-80899318 4:79978163-79978164
13 ANTXR2 NM_058172.6(ANTXR2):c.241T>C (p.Ser81Pro)SNV Likely pathogenic 209133 rs797045029 4:80990645-80990645 4:80069491-80069491
14 ANTXR2 NM_058172.6(ANTXR2):c.1148G>A (p.Gly383Asp)SNV Likely pathogenic 266112 rs886039907 4:80905063-80905063 4:79983909-79983909
15 ANTXR2 NM_058172.6(ANTXR2):c.324T>C (p.Asp108=)SNV Conflicting interpretations of pathogenicity 349884 rs184413338 4:80977140-80977140 4:80055986-80055986
16 ANTXR2 NM_058172.6(ANTXR2):c.1068C>G (p.Pro356=)SNV Conflicting interpretations of pathogenicity 349875 rs72653288 4:80905991-80905991 4:79984837-79984837
17 ANTXR2 NM_058172.6(ANTXR2):c.1347+9C>TSNV Conflicting interpretations of pathogenicity 349873 rs112023055 4:80899152-80899152 4:79977998-79977998
18 ANTXR2 NM_058172.6(ANTXR2):c.98C>T (p.Ala33Val)SNV Uncertain significance 349888 rs756775841 4:80993617-80993617 4:80072463-80072463
19 ANTXR2 NM_058172.6(ANTXR2):c.-5G>ASNV Uncertain significance 349889 rs765908500 4:80993719-80993719 4:80072565-80072565
20 ANTXR2 NM_058172.6(ANTXR2):c.-441C>TSNV Uncertain significance 349898 rs778888047 4:80994155-80994155 4:80073001-80073001
21 ANTXR2 NM_001145794.1(ANTXR2):c.-714A>TSNV Uncertain significance 349903 rs886059665 4:80994428-80994428 4:80073274-80073274
22 ANTXR2 NM_058172.6(ANTXR2):c.-366G>CSNV Uncertain significance 349895 rs886059661 4:80994080-80994080 4:80072926-80072926
23 ANTXR2 NM_058172.6(ANTXR2):c.-410dupduplication Uncertain significance 349896 rs886059662 4:80994123-80994124 4:80072969-80072970
24 ANTXR2 NM_058172.6(ANTXR2):c.-505G>CSNV Uncertain significance 349901 rs780730755 4:80994219-80994219 4:80073065-80073065
25 ANTXR2 NM_058172.6(ANTXR2):c.233T>C (p.Met78Thr)SNV Uncertain significance 349886 rs886059658 4:80990653-80990653 4:80069499-80069499
26 ANTXR2 NM_058172.6(ANTXR2):c.-130G>ASNV Uncertain significance 349891 rs886059659 4:80993844-80993844 4:80072690-80072690
27 ANTXR2 NM_058172.6(ANTXR2):c.-262A>GSNV Uncertain significance 349893 rs886059660 4:80993976-80993976 4:80072822-80072822
28 ANTXR2 NM_058172.6(ANTXR2):c.745C>T (p.Arg249Trp)SNV Uncertain significance 349879 rs377185226 4:80954677-80954677 4:80033523-80033523
29 ANTXR2 NM_058172.6(ANTXR2):c.637-21dupduplication Uncertain significance 349880 rs373672335 4:80957195-80957196 4:80036041-80036042
30 ANTXR2 NM_058172.6(ANTXR2):c.1392C>A (p.Asp464Glu)SNV Uncertain significance 349872 rs770869771 4:80898811-80898811 4:79977657-79977657
31 ANTXR2 NM_058172.6(ANTXR2):c.-442C>GSNV Uncertain significance 349899 rs886059663 4:80994156-80994156 4:80073002-80073002
32 ANTXR2 NM_058172.6(ANTXR2):c.-455C>TSNV Uncertain significance 349900 rs886059664 4:80994169-80994169 4:80073015-80073015
33 ANTXR2 NM_058172.6(ANTXR2):c.252G>A (p.Val84=)SNV Uncertain significance 349885 rs886059657 4:80990634-80990634 4:80069480-80069480
34 ANTXR2 NM_058172.6(ANTXR2):c.225-4G>ASNV Likely benign 349887 rs141355689 4:80990665-80990665 4:80069511-80069511
35 ANTXR2 NM_058172.6(ANTXR2):c.-410G>ASNV Likely benign 349897 rs72869605 4:80994124-80994124 4:80072970-80072970
36 ANTXR2 NM_058172.6(ANTXR2):c.1068C>A (p.Pro356=)SNV Likely benign 349876 rs72653288 4:80905991-80905991 4:79984837-79984837
37 ANTXR2 NM_058172.6(ANTXR2):c.-590A>TSNV Likely benign 349902 rs142313419 4:80994304-80994304 4:80073150-80073150
38 ANTXR2 NM_058172.6(ANTXR2):c.1395G>A (p.Arg465=)SNV Likely benign 349871 rs35798108 4:80898808-80898808 4:79977654-79977654
39 ANTXR2 NM_058172.6(ANTXR2):c.808G>A (p.Val270Ile)SNV Benign/Likely benign 349877 rs113707133 4:80952835-80952835 4:80031681-80031681
40 ANTXR2 NM_058172.6(ANTXR2):c.796+9C>TSNV Benign/Likely benign 349878 rs113482034 4:80954617-80954617 4:80033463-80033463
41 ANTXR2 NM_058172.6(ANTXR2):c.331C>T (p.Arg111Cys)SNV Benign/Likely benign 349883 rs61741646 4:80977133-80977133 4:80055979-80055979
42 ANTXR2 NM_058172.6(ANTXR2):c.637-10deldeletion Benign 349881 rs373672335 4:80957196-80957196 4:80036042-80036042
43 ANTXR2 NM_058172.6(ANTXR2):c.-319C>GSNV Benign 349894 rs11557908 4:80994033-80994033 4:80072879-80072879
44 ANTXR2 NM_058172.6(ANTXR2):c.-82C>ASNV Benign 349890 rs13140055 4:80993796-80993796 4:80072642-80072642
45 ANTXR2 NM_058172.6(ANTXR2):c.-230_-229deldeletion Benign 349892 rs80314910 4:80993943-80993944 4:80072789-80072790
46 ANTXR2 NM_058172.6(ANTXR2):c.1069G>C (p.Ala357Pro)SNV Benign 349874 rs12647691 4:80905990-80905990 4:79984836-79984836
47 ANTXR2 NM_058172.6(ANTXR2):c.378+8A>CSNV Benign 349882 rs4594664 4:80977078-80977078 4:80055924-80055924

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

73
# 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

Sources for Hyaline Fibromatosis Syndrome

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