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HFS
MCID: HYL004
MIFTS: 49

Hyaline Fibromatosis Syndrome (HFS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Hyaline Fibromatosis Syndrome

About this section

MalaCards integrated aliases for Hyaline Fibromatosis Syndrome:

Name: Hyaline Fibromatosis Syndrome 57 53 25 59 74 37 29 13 6
Infantile Systemic Hyalinosis 53 59 74
Juvenile Hyaline Fibromatosis 53 59 74
Hyalinosis, Systemic 57 44 72
Puretic Syndrome 53 25 59
Inherited Systemic Hyalinosis 53 25
Hfs 57 74
Murray-Puretic-Drescher Syndrome 59
Syndrome, Fibromatosis, Hyaline 40
Hyalinosis, Systemic Infantile 55
Neurofibromatosis 1 72
Systemic Hyalinosis 74
Molluscum Fibrosum 25
Murray Syndrome 25
Ish 74
Jhf 74

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive

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


HPO:

32
hyaline fibromatosis syndrome:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity progressive


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Skin diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

OMIM 57 228600
KEGG 37 H00614
MeSH 44 D057770
MESH via Orphanet 45 D057770
ICD10 via Orphanet 34 E78.8 M72.8
UMLS via Orphanet 73 C0406578
UMLS 72 C0027831 C2745948
Sources

Summaries for Hyaline Fibromatosis Syndrome

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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 infantile systemic hyalinosis, is related to hyalinosis, inherited systemic and congestive heart failure, 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 brain, and related phenotypes are macrocephaly and short neck

NIH Rare Diseases : 53 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)

KEGG : 37
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 : 74 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 : 75 Juvenile hyaline fibromatosis (also known as "Fibromatosis hyalinica multiplex juvenilis,"... more...

Sources

Related Diseases for Hyaline Fibromatosis Syndrome

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

(show top 50) (show all 255)
# Related Disease Score Top Affiliating Genes
1 hyalinosis, inherited systemic 11.8
2 congestive heart failure 11.7
3 hemifacial spasm 11.5
4 hypertrichosis, congenital generalized, with or without gingival hyperplasia 11.5
5 hydrops fetalis, nonimmune 11.4
6 marburg hemorrhagic fever 11.4
7 reynolds syndrome 11.3
8 septo-optic dysplasia spectrum 11.3
9 immune hydrops fetalis 11.2
10 chapare hemorrhagic fever 11.2
11 heart disease 11.0
12 fibromatosis 10.7
13 systolic heart failure 10.7
14 diarrhea 10.6
15 iron metabolism disease 10.6
16 protein-losing enteropathy 10.5
17 sleep apnea 10.4
18 mitral valve insufficiency 10.4
19 autosomal recessive disease 10.4
20 central sleep apnea 10.4
21 anthrax disease 10.4
22 cardiac conduction defect 10.4
23 pulmonary disease, chronic obstructive 10.4
24 dilated cardiomyopathy 10.3
25 chronic kidney disease 10.3
26 elephantiasis 10.3
27 skin tag 10.3
28 gingival fibromatosis 10.3
29 gingival hypertrophy 10.3
30 progressive familial heart block, type ia 10.3
31 atrioventricular block 10.3
32 atrial fibrillation 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 breast cancer 10.2
41 adult t-cell leukemia 10.2
42 t-cell leukemia 10.2
43 leukemia, t-cell, chronic 10.2
44 ventricular fibrillation, paroxysmal familial, 1 10.2
45 resting heart rate, variation in 10.2
46 left bundle branch hemiblock 10.2
47 muscular atrophy 10.2
48 stiff skin syndrome 10.2
49 lipoid proteinosis of urbach and wiethe 10.2
50 gingival overgrowth 10.2

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



Diseases related to Hyaline Fibromatosis Syndrome
Sources

Symptoms & Phenotypes for Hyaline Fibromatosis Syndrome

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Human phenotypes related to Hyaline Fibromatosis Syndrome:

59 32 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
3 osteopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000938
4 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
5 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
6 gingival overgrowth 59 32 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0000212
7 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
8 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0001387
9 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000939
10 subcutaneous nodule 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001482
11 immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002721
12 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
13 telangiectasia of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0100585
14 papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200034
15 skin ulcer 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0200042
16 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
17 short palm 59 32 hallmark (90%) Very frequent (99-80%) HP:0004279
18 urticaria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001025
19 thickened skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001072
20 lymphedema 59 32 hallmark (90%) Very frequent (99-80%) HP:0001004
21 abnormality of the adrenal glands 59 32 hallmark (90%) Very frequent (99-80%) HP:0000834
22 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
23 polycystic ovaries 59 32 hallmark (90%) Very frequent (99-80%) HP:0000147
24 aplasia/hypoplasia of the thymus 59 32 hallmark (90%) Very frequent (99-80%) HP:0010515
25 osteomalacia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002749
26 recurrent fractures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002757
27 chronic diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002028
28 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
29 abnormality of dental morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0006482
30 recurrent bacterial infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002718
31 camptodactyly of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0100490
32 abnormal diaphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0000940
33 hyperpigmentation of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000953
34 steatorrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002570
35 abnormal hair morphology 32 hallmark (90%) HP:0001595
36 abnormal skull morphology 32 hallmark (90%) HP:0000929
37 aplasia/hypoplasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0008065
38 skeletal muscle atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003202
39 osteolysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002797
40 abnormality of the gastrointestinal tract 59 32 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0011024
41 gingival fibromatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000169
42 progressive flexion contractures 59 32 occasional (7.5%) Occasional (29-5%) HP:0005876
43 malabsorption 59 Very frequent (99-80%)
44 death in infancy 59 Frequent (79-30%)
45 growth delay 59 Very frequent (99-80%)
46 abnormality of the skull 59 Very frequent (99-80%)
47 abnormality of the face 59 Very frequent (99-80%)
48 abnormality of the musculature 59 Very frequent (99-80%)
49 recurrent infections 32 HP:0002719
50 diarrhea 32 HP:0002014

Symptoms via clinical synopsis from OMIM:

57
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
Sources

Drugs & Therapeutics for Hyaline Fibromatosis Syndrome

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

(show top 50) (show all 164)
# 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
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
4
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
5
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
6
Trametinib Approved Phase 4 871700-17-3 11707110
7
Dabrafenib Approved, Investigational Phase 4 1195765-45-7 44462760 44516822
8 Neurotransmitter Uptake Inhibitors Phase 4
9 Dopamine Uptake Inhibitors Phase 4
10 Dopamine Agents Phase 4
11 Analgesics, Non-Narcotic Phase 4
12 Peripheral Nervous System Agents Phase 4
13 Analgesics Phase 4
14 Central Nervous System Depressants Phase 4
15 Neurotransmitter Agents Phase 4
16
Glycopyrrolate Phase 4 596-51-0 3494
17 Adrenergic alpha-2 Receptor Agonists Phase 4
18 Adrenergic Agonists Phase 4
19 Adrenergic alpha-Agonists Phase 4
20 Hypnotics and Sedatives Phase 4
21 Adrenergic Agents Phase 4
22 Anesthetics Phase 4
23 Anesthetics, General Phase 4
24 Anesthetics, Intravenous Phase 4
25
Lamotrigine Approved, Investigational Phase 2, Phase 3 84057-84-1 3878
26
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
27
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
28
Calcium Approved, Nutraceutical Phase 2, Phase 3 7440-70-2 271
29 Hormones Phase 2, Phase 3
30 Tranquilizing Agents Phase 2, Phase 3
31 Chlorhexidine gluconate Phase 2, Phase 3
32 Diuretics, Potassium Sparing Phase 2, Phase 3
33 Sodium Channel Blockers Phase 2, Phase 3
34 Antipsychotic Agents Phase 2, Phase 3
35 Psychotropic Drugs Phase 2, Phase 3
36 Anticonvulsants Phase 2, Phase 3
37 calcium channel blockers Phase 2, Phase 3
38 Calcium, Dietary Phase 2, Phase 3
39 Antineoplastic Agents, Phytogenic Phase 3
40 Tubulin Modulators Phase 3
41 Antimitotic Agents Phase 3
42
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
43
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
44
Peginterferon alfa-2b Approved Phase 2 99210-65-8, 215647-85-1
45
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
46
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
47
Vinblastine Approved Phase 2 865-21-4 241903 13342
48
leucovorin Approved Phase 2 58-05-9 143 6006
49
Diclofenac Approved, Vet_approved Phase 2 15307-86-5 3033
50
Lapatinib Approved, Investigational Phase 2 388082-78-8, 231277-92-2 208908 9941095

Interventional clinical trials:

(show top 50) (show all 150)
# 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 Observer-blinded Randomized Study of Propofol Infusion vs Bolus Dexmedetomidine and Propofol Sedation for Pediatric Magnetic Resonance Imaging Recruiting NCT03513757 Phase 4 propofol;Dexmedetomidine
3 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
4 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
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 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) Not yet recruiting NCT03871257 Phase 3 Carboplatin;Selumetinib;Selumetinib Sulfate;Vincristine;Vincristine Sulfate
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 Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1- CRAD001CUS232T Completed NCT02332902 Phase 2 Everolimus
10 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
11 Phase II Clinical Trial of Pirfenidone for the Treatment of Patients With Neurofibromatosis Type I Completed NCT00754780 Phase 2 Pirfenidone
12 Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01673009 Phase 2 Gleevec
13 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
14 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
15 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2 Sunitinib
16 Vinblastine/Methotrexate For Severe Progressive Plexiform Neurofibromas: A Phase II Study Completed NCT00030264 Phase 2 Methotrexate;Vinblastine
17 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
18 Pilot Study of Gleevec/Imatinib Mesylate (STI-571, NSC 716051) in Neurofibromatosis (NF1) Patient With Plexiform Neurofibromas Completed NCT01140360 Phase 1, Phase 2 Gleevec
19 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
20 Phase II Trial of Pirfenidone in Children, Adolescents, and Young Adults With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas Completed NCT00076102 Phase 2 Pirfenidone
21 Phase 2 Study of Bevacizumab in Children and Adults With Neurofibromatosis Type 2 and Symptomatic Vestibular Schwannoma Completed NCT01207687 Phase 2
22 Phase II Study of Lapatinib in Children and Adults With Neurofibromatosis Type 2(NF2) and NF2-related Tumors Completed NCT00973739 Phase 2 Lapatinib
23 A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1 Completed NCT00853580 Phase 2 Lovastatin â„¢
24 A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Completed NCT00634270 Phase 2 Sirolimus
25 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
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 Prospective, Randomized, Placebo-Controlled Phase II Trial of Aspirin for Vestibular Schwannomas Recruiting NCT03079999 Phase 2 Aspirin;Placebo
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
32 Phase II Trial to Evaluate Trametinib in Patients With Advanced NF1-mutant Non-small Cell Lung Cancer Recruiting NCT03232892 Phase 2 Trametinib
33 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
34 Phase 2 Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors Recruiting NCT03095248 Phase 2 Selumetinib
35 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
36 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
37 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
38 Neurobiology and Treatment of Reading Disability in NF1 Recruiting NCT02964884 Phase 2 Lovastatin;Placebo Oral Tablet
39 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
40 A Phase II Study of Binimetinib in Children and Adults With NF1 Associated Plexiform Neurofibromas (PNOC010) Recruiting NCT03231306 Phase 2 Binimetinib
41 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
42 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
43 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
44 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
45 Phase II Trial of Bevacizumab in Patients With Recurrent or Progressive Meningiomas Active, not recruiting NCT01125046 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 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
48 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
49 Phase II Study of Axitinib in Patients With Neurofibromatosis Type 2 and Progressive Vestibular Schwannomas Active, not recruiting NCT02129647 Phase 2 Axitinib
50 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 Active, not recruiting NCT01767792 Phase 2 Bevacizumab

Search NIH Clinical Center for Hyaline Fibromatosis Syndrome

Cochrane evidence based reviews: hyalinosis, systemic

Sources

Genetic Tests for Hyaline Fibromatosis Syndrome

About this section

Genetic tests related to Hyaline Fibromatosis Syndrome:

# Genetic test Affiliating Genes
1 Hyaline Fibromatosis Syndrome 29 ANTXR2
Sources

Anatomical Context for Hyaline Fibromatosis Syndrome

About this section

MalaCards organs/tissues related to Hyaline Fibromatosis Syndrome:

41
Skin, Bone, Brain, Lung, Thymus, Adrenal Gland, Skeletal Muscle
Sources

Publications for Hyaline Fibromatosis Syndrome

About this section

Articles related to Hyaline Fibromatosis Syndrome:

(show all 47)
# Title Authors PMID Year
1
Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system. 38 8 71
22383261 2012
2
Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. 8 71
12973667 2003
3
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. 8 71
14508707 2003
4
Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis. 38 8
2434938 1986
5
Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis. 71
20331448 2010
6
Hyalinosis, Inherited Systemic 71
20301698 2008
7
The gene for juvenile hyaline fibromatosis maps to chromosome 4q21. 8
12214284 2002
8
Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature. 8
11298373 2001
9
Two siblings with juvenile hyaline fibromatosis: case reports and review of the literature. 8
11206353 1999
10
Juvenile hyaline fibromatosis: impaired collagen metabolism in human skin fibroblasts. 8
9487969 1997
11
Juvenile hyaline fibromatosis: a report of two severe cases. 8
1880654 1991
12
Juvenile hyaline fibromatosis. 8
2433666 1987
13
Juvenile hyaline fibromatosis: two new patients and review of the literature. 8
3544844 1987
14
Congenital generalized fibromatosis with visceral involvement. A case report. 8
7260846 1980
15
[Painful disseminated fibromatosis (systemic hyalinosis): a new hereditary collagen dysplasia]. 8
86330 1978
16
Juvenile hyalin fibromatosis. 8
55105 1976
17
Two cases of juvenile hyalin fibromatosis. Some histological, electron microscopic, and tissue culture observations. 8
4118157 1972
18
[A new type of mucopolysaccharidosis]. 8
4256761 1971
19
Ultrastructure of a fibromatosis hyalinica multiplex juvenilis. 8
5476796 1970
20
A unique form of mesenchymal dysplasia. 8
14489244 1962
21
Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations. 38
30176098 2018
22
Two novel mutations in the ANTXR2 gene in a Chinese patient suffering from hyaline fibromatosis syndrome: A case report. 38
30152846 2018
23
The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series. 38
29801470 2018
24
Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis): whole-body MR findings in two siblings with different subcutaneous nodules distribution. 38
29058046 2018
25
Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation. 38
30050362 2018
26
CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome. 38
28604699 2017
27
Erratum to: Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome. 38
28148224 2017
28
Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 Gene. 38
27174544 2017
29
Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome. 38
28103792 2017
30
Hyperpigmentation over the metacarpophalangeal joints and the malleoli in a case of hyaline fibromatosis syndrome with ANTXR2 mutations. 38
26335786 2016
31
Hyaline Fibromatosis Syndrome: A Rare Inherited Disorder. 38
27688461 2016
32
A mild case of hyaline fibromatosis syndrome, presenting in an adult. 38
25809500 2016
33
Hyaline fibromatosis syndrome: cutaneous manifestations. 38
27192526 2016
34
[Hyaline fibromatosis syndrome: case report of two siblings]. 38
26294158 2015
35
Differential dependence on N-glycosylation of anthrax toxin receptors CMG2 and TEM8. 38
25781883 2015
36
Hyaline fibromatosis syndrome with mutation c.1074delT of the CMG2 gene: a case report. 38
25186005 2014
37
Hyaline fibromatosis of Hoffa's fat pad in a patient with a mild type of hyaline fibromatosis syndrome. 38
24132693 2014
38
Hyaline fibromatosis syndrome resulting from a new homozygous missense mutation, p.Gly116Val, in ANTXR2. 38
23734713 2013
39
In-depth analysis of hyaline fibromatosis syndrome frameshift mutations at the same site reveal the necessity of personalized therapy. 38
23554269 2013
40
Juvenile hyaline fibromatosis or hyaline fibromatosis syndrome? 38
23455832 2012
41
Hyaline fibromatosis syndrome: new unifying term and surgical approach. 38
22771664 2012
42
The dark sides of capillary morphogenesis gene 2. 38
22215446 2012
43
Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors. 38
21328543 2011
44
Juvenile hyaline fibromatosis and infantile systemic hyalinosis: a unifying term and a proposed grading system. 38
19344977 2009
45
Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum. 9
19191226 2009
46
Characterization of the interaction between anthrax toxin and its cellular receptors. 9
17381430 2007
47
Self-limited autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia in a Kirghizian family. 38
6224420 1983
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Variations for Hyaline Fibromatosis Syndrome

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ClinVar genetic disease variations for Hyaline Fibromatosis Syndrome:

6 (show all 46)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ANTXR2 NM_058172.6(ANTXR2): c.1179G> A (p.Glu393=) single nucleotide variant Pathogenic rs546102223 4:80905032-80905032 4:79983878-79983878
2 ANTXR2 NM_058172.6(ANTXR2): c.1142A> G (p.Tyr381Cys) single nucleotide variant Pathogenic rs137852901 4:80905069-80905069 4:79983915-79983915
3 ANTXR2 NM_058172.6(ANTXR2): c.314G> A (p.Gly105Asp) single nucleotide variant Pathogenic rs137852902 4:80977150-80977150 4:80055996-80055996
4 ANTXR2 NM_058172.6(ANTXR2): c.986T> G (p.Leu329Arg) single nucleotide variant Pathogenic rs137852903 4:80929730-80929730 4:80008576-80008576
5 ANTXR2 NM_058172.6(ANTXR2): c.658G> T (p.Glu220Ter) single nucleotide variant Pathogenic rs137852904 4:80957165-80957165 4:80036011-80036011
6 ANTXR2 NM_058172.6(ANTXR2): c.566T> C (p.Ile189Thr) single nucleotide variant Pathogenic rs137852905 4:80975496-80975496 4:80054342-80054342
7 ANTXR2 NM_058172.6(ANTXR2): c.1073dup (p.Ala359fs) duplication Pathogenic rs312262690 4:80905986-80905986 4:79984832-79984832
8 ANTXR2 ANTXR2, 1-BP DEL, 1074T deletion Pathogenic
9 ANTXR2 NM_058172.6(ANTXR2): c.1305del (p.Thr436fs) deletion Pathogenic rs797045028 4:80899203-80899203 4:79978049-79978049
10 ANTXR2 NM_058172.6(ANTXR2): c.903dup (p.Ser302fs) duplication Pathogenic rs1553933367 4:80940094-80940094 4:80018940-80018940
11 ANTXR2 NM_058172.6(ANTXR2): c.1148G> A (p.Gly383Asp) single nucleotide variant Likely pathogenic rs886039907 4:80905063-80905063 4:79983909-79983909
12 ANTXR2 NM_058172.6(ANTXR2): c.241T> C (p.Ser81Pro) single nucleotide variant Likely pathogenic rs797045029 4:80990645-80990645 4:80069491-80069491
13 ANTXR2 NM_058172.6(ANTXR2): c.867_945del (p.Glu289fs) deletion Likely pathogenic 4:80940052-80940130 4:80018898-80018976
14 ANTXR2 NM_058172.6(ANTXR2): c.-366G> C single nucleotide variant Uncertain significance rs886059661 4:80994080-80994080 4:80072926-80072926
15 ANTXR2 NM_058172.6(ANTXR2): c.-410dup duplication Uncertain significance rs886059662 4:80994124-80994124 4:80072970-80072970
16 ANTXR2 NM_058172.6(ANTXR2): c.-505G> C single nucleotide variant Uncertain significance rs780730755 4:80994219-80994219 4:80073065-80073065
17 ANTXR2 NM_001145794.1(ANTXR2): c.-714A> T single nucleotide variant Uncertain significance rs886059665 4:80994428-80994428 4:80073274-80073274
18 ANTXR2 NM_058172.6(ANTXR2): c.1347+9C> T single nucleotide variant Uncertain significance rs112023055 4:80899152-80899152 4:79977998-79977998
19 ANTXR2 NM_058172.6(ANTXR2): c.98C> T (p.Ala33Val) single nucleotide variant Uncertain significance rs756775841 4:80993617-80993617 4:80072463-80072463
20 ANTXR2 NM_058172.6(ANTXR2): c.-5G> A single nucleotide variant Uncertain significance rs765908500 4:80993719-80993719 4:80072565-80072565
21 ANTXR2 NM_058172.6(ANTXR2): c.-441C> T single nucleotide variant Uncertain significance rs778888047 4:80994155-80994155 4:80073001-80073001
22 ANTXR2 NM_058172.6(ANTXR2): c.-455C> T single nucleotide variant Uncertain significance rs886059664 4:80994169-80994169 4:80073015-80073015
23 ANTXR2 NM_058172.6(ANTXR2): c.-442C> G single nucleotide variant Uncertain significance rs886059663 4:80994156-80994156 4:80073002-80073002
24 ANTXR2 NM_058172.6(ANTXR2): c.-262A> G single nucleotide variant Uncertain significance rs886059660 4:80993976-80993976 4:80072822-80072822
25 ANTXR2 NM_058172.6(ANTXR2): c.1392C> A (p.Asp464Glu) single nucleotide variant Uncertain significance rs770869771 4:80898811-80898811 4:79977657-79977657
26 ANTXR2 NM_058172.6(ANTXR2): c.745C> T (p.Arg249Trp) single nucleotide variant Uncertain significance rs377185226 4:80954677-80954677 4:80033523-80033523
27 ANTXR2 NM_058172.5(ANTXR2): c.637-10dupT duplication Uncertain significance rs373672335 4:80957196-80957196 4:80036042-80036042
28 ANTXR2 NM_058172.6(ANTXR2): c.324T> C (p.Asp108=) single nucleotide variant Uncertain significance rs184413338 4:80977140-80977140 4:80055986-80055986
29 ANTXR2 NM_058172.6(ANTXR2): c.233T> C (p.Met78Thr) single nucleotide variant Uncertain significance rs886059658 4:80990653-80990653 4:80069499-80069499
30 ANTXR2 NM_058172.6(ANTXR2): c.-130G> A single nucleotide variant Uncertain significance rs886059659 4:80993844-80993844 4:80072690-80072690
31 ANTXR2 NM_058172.6(ANTXR2): c.1068C> G (p.Pro356=) single nucleotide variant Uncertain significance rs72653288 4:80905991-80905991 4:79984837-79984837
32 ANTXR2 NM_058172.6(ANTXR2): c.252G> A (p.Val84=) single nucleotide variant Uncertain significance rs886059657 4:80990634-80990634 4:80069480-80069480
33 ANTXR2 NM_058172.6(ANTXR2): c.1395G> A (p.Arg465=) single nucleotide variant Likely benign rs35798108 4:80898808-80898808 4:79977654-79977654
34 ANTXR2 NM_058172.6(ANTXR2): c.808G> A (p.Val270Ile) single nucleotide variant Likely benign rs113707133 4:80952835-80952835 4:80031681-80031681
35 ANTXR2 NM_058172.6(ANTXR2): c.796+9C> T single nucleotide variant Likely benign rs113482034 4:80954617-80954617 4:80033463-80033463
36 ANTXR2 NM_058172.6(ANTXR2): c.1068C> A (p.Pro356=) single nucleotide variant Likely benign rs72653288 4:80905991-80905991 4:79984837-79984837
37 ANTXR2 NM_058172.6(ANTXR2): c.331C> T (p.Arg111Cys) single nucleotide variant Likely benign rs61741646 4:80977133-80977133 4:80055979-80055979
38 ANTXR2 NM_058172.6(ANTXR2): c.225-4G> A single nucleotide variant Likely benign rs141355689 4:80990665-80990665 4:80069511-80069511
39 ANTXR2 NM_058172.6(ANTXR2): c.-410G> A single nucleotide variant Likely benign rs72869605 4:80994124-80994124 4:80072970-80072970
40 ANTXR2 NM_058172.6(ANTXR2): c.-590A> T single nucleotide variant Likely benign rs142313419 4:80994304-80994304 4:80073150-80073150
41 ANTXR2 NM_058172.6(ANTXR2): c.-319C> G single nucleotide variant Benign rs11557908 4:80994033-80994033 4:80072879-80072879
42 ANTXR2 NM_058172.6(ANTXR2): c.-230_-229del deletion Benign rs80314910 4:80993943-80993944 4:80072789-80072790
43 ANTXR2 NM_058172.6(ANTXR2): c.-82C> A single nucleotide variant Benign rs13140055 4:80993796-80993796 4:80072642-80072642
44 ANTXR2 NM_058172.6(ANTXR2): c.1069G> C (p.Ala357Pro) single nucleotide variant Benign rs12647691 4:80905990-80905990 4:79984836-79984836
45 ANTXR2 NM_058172.5(ANTXR2): c.637-10delT deletion Benign rs373672335 4:80957196-80957196 4:80036042-80036042
46 ANTXR2 NM_058172.6(ANTXR2): c.378+8A> C single nucleotide variant Benign rs4594664 4:80977078-80977078 4:80055924-80055924

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

74
# 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

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Expression for Hyaline Fibromatosis Syndrome

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

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GO Terms for Hyaline Fibromatosis Syndrome

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Sources for Hyaline Fibromatosis Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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