HFS
MCID: HYL004
MIFTS: 42

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 58 54 26 60 76 38 30 13 6
Infantile Systemic Hyalinosis 54 60 76
Juvenile Hyaline Fibromatosis 54 60 76
Hyalinosis, Systemic 58 45 74
Puretic Syndrome 54 26 60
Inherited Systemic Hyalinosis 54 26
Hfs 58 76
Murray-Puretic-Drescher Syndrome 60
Syndrome, Fibromatosis, Hyaline 41
Hyalinosis, Systemic Infantile 56
Neurofibromatosis 1 74
Systemic Hyalinosis 76
Molluscum Fibrosum 26
Murray Syndrome 26
Ish 76
Jhf 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive

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


HPO:

33
hyaline fibromatosis syndrome:
Clinical modifier death in infancy
Onset and clinical course variable expressivity progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hyaline Fibromatosis Syndrome

NIH Rare Diseases : 54 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.

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). Affiliated tissues include skin, bone and heart, and related phenotypes are macrocephaly and short neck

Genetics Home Reference : 26 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.

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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 : 77 Juvenile hyaline fibromatosis (also known as "Fibromatosis hyalinica multiplex juvenilis,"... more...

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 129)
# Related Disease Score Top Affiliating Genes
1 hyalinosis, inherited systemic 11.7
2 congestive heart failure 11.6
3 hemifacial spasm 11.4
4 hypertrichosis, congenital generalized, with or without gingival hyperplasia 11.4
5 hydrops fetalis, nonimmune 11.3
6 reynolds syndrome 11.1
7 septo-optic dysplasia spectrum 11.1
8 immune hydrops fetalis 11.1
9 rere-related disorders 10.9
10 fibromatosis 10.7
11 systolic heart failure 10.5
12 esterase c 10.4
13 intraocular pressure quantitative trait locus 10.4
14 iron metabolism disease 10.3
15 protein-losing enteropathy 10.3
16 adenocarcinoma 10.2
17 fibroma 10.2
18 elephantiasis 10.2
19 retinoblastoma 10.2
20 oral squamous cell carcinoma 10.2
21 squamous cell carcinoma 10.2
22 atrial fibrillation 10.2
23 muscle hypertrophy 10.2
24 gingival hypertrophy 10.2
25 xp22.3 microdeletion syndrome 10.2
26 blood group, gerbich system 10.2
27 sleep apnea 10.2
28 laryngeal adductor paralysis 10.1
29 autoimmune lymphoproliferative syndrome, type v 10.1
30 leukemia 10.1
31 atrial standstill 1 10.1
32 cardiac conduction defect 10.1
33 atrioventricular block 10.1
34 endosteal hyperostosis, autosomal dominant 10.1
35 autosomal recessive disease 10.1
36 scoliosis 10.1
37 bullous pemphigoid 10.1
38 lipoid proteinosis of urbach and wiethe 10.1
39 headache associated with sexual activity 10.1
40 hemopericardium 10.1
41 pericardial effusion 10.1
42 diarrhea 10.1
43 gingival overgrowth 10.1
44 lymphangiectasis 10.1
45 neutrophil migration 10.0
46 body mass index quantitative trait locus 1 10.0
47 pulmonary disease, chronic obstructive 10.0
48 dilated cardiomyopathy 10.0
49 mitral valve insufficiency 10.0
50 muscular atrophy 10.0

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:

60 33 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000256
2 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
3 osteopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000938
4 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
5 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
6 gingival overgrowth 60 33 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0000212
7 coarse facial features 60 33 hallmark (90%) Very frequent (99-80%) HP:0000280
8 joint stiffness 60 33 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0001387
9 osteoporosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000939
10 subcutaneous nodule 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001482
11 immunodeficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0002721
12 feeding difficulties 60 33 hallmark (90%) Very frequent (99-80%) HP:0011968
13 micromelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002983
14 short palm 60 33 hallmark (90%) Very frequent (99-80%) HP:0004279
15 lymphedema 60 33 hallmark (90%) Very frequent (99-80%) HP:0001004
16 abnormality of the skull 60 33 hallmark (90%) Very frequent (99-80%) HP:0000929
17 skin ulcer 60 33 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0200042
18 telangiectasia of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0100585
19 polycystic ovaries 60 33 hallmark (90%) Very frequent (99-80%) HP:0000147
20 aplasia/hypoplasia of the thymus 60 33 hallmark (90%) Very frequent (99-80%) HP:0010515
21 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
22 osteomalacia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002749
23 recurrent fractures 60 33 hallmark (90%) Very frequent (99-80%) HP:0002757
24 chronic diarrhea 60 33 hallmark (90%) Very frequent (99-80%) HP:0002028
25 thickened skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0001072
26 severe short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0003510
27 urticaria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001025
28 abnormality of dental morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0006482
29 recurrent bacterial infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0002718
30 papule 60 33 hallmark (90%) Very frequent (99-80%) HP:0200034
31 camptodactyly of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0100490
32 abnormal diaphysis morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0000940
33 abnormality of the adrenal glands 60 33 hallmark (90%) Very frequent (99-80%) HP:0000834
34 hyperpigmentation of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000953
35 steatorrhea 60 33 hallmark (90%) Very frequent (99-80%) HP:0002570
36 abnormal hair morphology 33 hallmark (90%) HP:0001595
37 aplasia/hypoplasia of the skin 60 33 frequent (33%) Frequent (79-30%) HP:0008065
38 skeletal muscle atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003202
39 osteolysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002797
40 abnormality of the gastrointestinal tract 60 33 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0011024
41 gingival fibromatosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000169
42 progressive flexion contractures 60 33 occasional (7.5%) Occasional (29-5%) HP:0005876
43 malabsorption 60 Very frequent (99-80%)
44 death in infancy 60 Frequent (79-30%)
45 growth delay 60 Very frequent (99-80%)
46 abnormality of the face 60 Very frequent (99-80%)
47 abnormality of the musculature 60 Very frequent (99-80%)
48 recurrent infections 33 HP:0002719
49 diarrhea 33 HP:0002014
50 abnormality of the hair 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Biomarker for Hyaline Fibromatosis Syndrome (BioHFS) Recruiting NCT03196115

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 30 ANTXR2

Anatomical Context for Hyaline Fibromatosis Syndrome

MalaCards organs/tissues related to Hyaline Fibromatosis Syndrome:

42
Skin, Bone, Heart, Skeletal Muscle, Ovary, Thymus, Adrenal Gland

Publications for Hyaline Fibromatosis Syndrome

Articles related to Hyaline Fibromatosis Syndrome:

(show top 50) (show all 75)
# Title Authors Year
1
Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis): whole-body MR findings in two siblings with different subcutaneous nodules distribution. ( 29058046 )
2018
2
The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series. ( 29801470 )
2018
3
Two novel mutations in the ANTXR2 gene in a Chinese patient suffering from hyaline fibromatosis syndrome: A case report. ( 30152846 )
2018
4
Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations. ( 30176098 )
2018
5
Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 Gene. ( 27174544 )
2017
6
Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome. ( 28103792 )
2017
7
Erratum to: Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome. ( 28148224 )
2017
8
CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome. ( 28604699 )
2017
9
Infantile Systemic Hyalinosis Complicated with Right Atrial Thrombus and Pericardial Effusion in an Infant. ( 25458638 )
2017
10
Infantile systemic hyalinosis: a report of two new cases, one with prolonged survival. ( 28524048 )
2017
11
Hyperpigmentation over the metacarpophalangeal joints and the malleoli in a case of hyaline fibromatosis syndrome with ANTXR2 mutations. ( 26335786 )
2016
12
Hyaline fibromatosis syndrome: cutaneous manifestations. ( 27192526 )
2016
13
Hyaline Fibromatosis Syndrome: A Rare Inherited Disorder. ( 27688461 )
2016
14
A mild case of hyaline fibromatosis syndrome, presenting in an adult. ( 25809500 )
2016
15
Comment on "Treatment of Massive Labial and Gingival Hypertrophy in a Patient With Infantile Systemic Hyalinosis--A Case Report". ( 26687153 )
2016
16
Infantile Systemic Hyalinosis with Mutation in ANTXR2. ( 26806203 )
2016
17
Infantile systemic hyalinosis: Report of two severe cases from Saudi Arabia and review of the literature. ( 27195198 )
2016
18
Identical Twins with Infantile Systemic Hyalinosis: Case study and review of literature. ( 27299133 )
2016
19
Infantile Systemic Hyalinosis: Novel Founder Mutation in the Initiation Codon among "Malis (Farmers)" in Jodhpur. ( 27753005 )
2016
20
Treatment of Massive Labial and Gingival Hypertrophy in a Patient With Infantile Systemic Hyalinosis-A Case Report. ( 26207694 )
2015
21
Infantile systemic hyalinosis in an Iranian family with a mutation in the CMG2/ANTXR2 gene. ( 25754064 )
2015
22
Infantile systemic hyalinosis in identical twins. ( 26668783 )
2015
23
Hyaline fibromatosis syndrome with mutation c.1074delT of the CMG2 gene: a case report. ( 25186005 )
2014
24
Hyaline fibromatosis of Hoffa's fat pad in a patient with a mild type of hyaline fibromatosis syndrome. ( 24132693 )
2014
25
Infantile Systemic Hyalinosis: Report of 17-year Experience. ( 26019786 )
2014
26
In-depth analysis of hyaline fibromatosis syndrome frameshift mutations at the same site reveal the necessity of personalized therapy. ( 23554269 )
2013
27
Hyaline fibromatosis syndrome resulting from a new homozygous missense mutation, p.Gly116Val, in ANTXR2. ( 23734713 )
2013
28
Infantile systemic hyalinosis: a case report with a novel mutation. ( 23386947 )
2013
29
Juvenile hyaline fibromatosis or hyaline fibromatosis syndrome? ( 23455832 )
2012
30
Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system. ( 22383261 )
2012
31
Additional thoughts about juvenile hyaline fibromatosis and infantile systemic hyalinosis. ( 22498585 )
2012
32
Hyaline fibromatosis syndrome: new unifying term and surgical approach. ( 22771664 )
2012
33
Intestinal lymphangiectasia in a patient with infantile systemic hyalinosis syndrome: a rare cause of protein-losing enteropathy. ( 22366835 )
2012
34
Infantile systemic hyalinosis associated with a putative splice-site mutation in the ANTXR2 gene. ( 22300424 )
2012
35
Infantile systemic hyalinosis. ( 22318104 )
2012
36
Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors. ( 21328543 )
2011
37
Ultrasound findings in infantile systemic hyalinosis. ( 21152921 )
2011
38
Case report: Infantile systemic hyalinosis: a dental perspective. ( 21806909 )
2011
39
Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis. ( 20331448 )
2010
40
Infantile systemic hyalinosis: an atypical milder form. ( 20634169 )
2010
41
Infantile systemic hyalinosis: A case report and review of literature. ( 23130184 )
2010
42
Juvenile hyaline fibromatosis and infantile systemic hyalinosis: a unifying term and a proposed grading system. ( 19344977 )
2009
43
Infantile systemic hyalinosis presenting as intractable infantile diarrhea. ( 18563441 )
2009
44
Heterogeneity and atypical presentation in infantile systemic hyalinosis with severe labio-gingival enlargement: first Egyptian report. ( 19624984 )
2009
45
Infantile Systemic Hyalinosis: A Case Report of Compromised Cellular and Humoral Branches of the Immune System Leading to Infections. ( 20563226 )
2009
46
Juvenile hyaline fibromatosis and infantile systemic hyalinosis: divergent expressions of the same genetic defect? ( 18797061 )
2008
47
Infantile systemic hyalinosis: Case report and review of the literature. ( 18222328 )
2008
48
The anesthetic management of a child with infantile systemic hyalinosis. ( 18673317 )
2008
49
Thick skin, nodules, and immobility in an infant. Infantile systemic hyalinosis. ( 18950399 )
2008
50
Juvenile hyaline fibromatosis and infantile systemic hyalinosis overlap associated with a novel mutation in capillary morphogenesis protein-2 gene. ( 17284973 )
2007

Variations for Hyaline Fibromatosis Syndrome

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

76
# 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

ClinVar genetic disease variations for Hyaline Fibromatosis Syndrome:

6 (show top 50) (show all 91)
# Gene Variation Type Significance SNP ID Assembly Location
1 ANTXR2 NM_058172.5(ANTXR2): c.1179G> A (p.Glu393=) single nucleotide variant Pathogenic rs546102223 GRCh37 Chromosome 4, 80905032: 80905032
2 ANTXR2 NM_058172.5(ANTXR2): c.1179G> A (p.Glu393=) single nucleotide variant Pathogenic rs546102223 GRCh38 Chromosome 4, 79983878: 79983878
3 ANTXR2 NM_058172.5(ANTXR2): c.1142A> G (p.Tyr381Cys) single nucleotide variant Pathogenic rs137852901 GRCh37 Chromosome 4, 80905069: 80905069
4 ANTXR2 NM_058172.5(ANTXR2): c.1142A> G (p.Tyr381Cys) single nucleotide variant Pathogenic rs137852901 GRCh38 Chromosome 4, 79983915: 79983915
5 ANTXR2 NM_058172.5(ANTXR2): c.314G> A (p.Gly105Asp) single nucleotide variant Pathogenic rs137852902 GRCh37 Chromosome 4, 80977150: 80977150
6 ANTXR2 NM_058172.5(ANTXR2): c.314G> A (p.Gly105Asp) single nucleotide variant Pathogenic rs137852902 GRCh38 Chromosome 4, 80055996: 80055996
7 ANTXR2 NM_058172.5(ANTXR2): c.986T> G (p.Leu329Arg) single nucleotide variant Pathogenic rs137852903 GRCh37 Chromosome 4, 80929730: 80929730
8 ANTXR2 NM_058172.5(ANTXR2): c.986T> G (p.Leu329Arg) single nucleotide variant Pathogenic rs137852903 GRCh38 Chromosome 4, 80008576: 80008576
9 ANTXR2 NM_058172.5(ANTXR2): c.658G> T (p.Glu220Ter) single nucleotide variant Pathogenic rs137852904 GRCh37 Chromosome 4, 80957165: 80957165
10 ANTXR2 NM_058172.5(ANTXR2): c.658G> T (p.Glu220Ter) single nucleotide variant Pathogenic rs137852904 GRCh38 Chromosome 4, 80036011: 80036011
11 ANTXR2 NM_058172.5(ANTXR2): c.566T> C (p.Ile189Thr) single nucleotide variant Pathogenic rs137852905 GRCh37 Chromosome 4, 80975496: 80975496
12 ANTXR2 NM_058172.5(ANTXR2): c.566T> C (p.Ile189Thr) single nucleotide variant Pathogenic rs137852905 GRCh38 Chromosome 4, 80054342: 80054342
13 ANTXR2 NM_058172.5(ANTXR2): c.1073dupC (p.Ala359Cysfs) duplication Pathogenic rs312262690 GRCh37 Chromosome 4, 80905986: 80905986
14 ANTXR2 NM_058172.5(ANTXR2): c.1073dupC (p.Ala359Cysfs) duplication Pathogenic rs312262690 GRCh38 Chromosome 4, 79984832: 79984832
15 ANTXR2 ANTXR2, 1-BP DEL, 1074T deletion Pathogenic
16 ANTXR2 NM_058172.5(ANTXR2): c.1305delC (p.Thr436Hisfs) deletion Pathogenic rs797045028 GRCh37 Chromosome 4, 80899203: 80899203
17 ANTXR2 NM_058172.5(ANTXR2): c.1305delC (p.Thr436Hisfs) deletion Pathogenic rs797045028 GRCh38 Chromosome 4, 79978049: 79978049
18 ANTXR2 NM_058172.5(ANTXR2): c.241T> C (p.Ser81Pro) single nucleotide variant Likely pathogenic rs797045029 GRCh37 Chromosome 4, 80990645: 80990645
19 ANTXR2 NM_058172.5(ANTXR2): c.241T> C (p.Ser81Pro) single nucleotide variant Likely pathogenic rs797045029 GRCh38 Chromosome 4, 80069491: 80069491
20 ANTXR2 NM_058172.5(ANTXR2): c.1148G> A (p.Gly383Asp) single nucleotide variant Likely pathogenic rs886039907 GRCh37 Chromosome 4, 80905063: 80905063
21 ANTXR2 NM_058172.5(ANTXR2): c.1148G> A (p.Gly383Asp) single nucleotide variant Likely pathogenic rs886039907 GRCh38 Chromosome 4, 79983909: 79983909
22 ANTXR2 NM_058172.5(ANTXR2): c.-230_-229delAA deletion Benign rs80314910 GRCh38 Chromosome 4, 80072789: 80072790
23 ANTXR2 NM_058172.5(ANTXR2): c.-230_-229delAA deletion Benign rs80314910 GRCh37 Chromosome 4, 80993943: 80993944
24 ANTXR2 NM_058172.5(ANTXR2): c.1392C> A (p.Asp464Glu) single nucleotide variant Uncertain significance rs770869771 GRCh38 Chromosome 4, 79977657: 79977657
25 ANTXR2 NM_058172.5(ANTXR2): c.1392C> A (p.Asp464Glu) single nucleotide variant Uncertain significance rs770869771 GRCh37 Chromosome 4, 80898811: 80898811
26 ANTXR2 NM_058172.5(ANTXR2): c.378+8A> C single nucleotide variant Benign rs4594664 GRCh38 Chromosome 4, 80055924: 80055924
27 ANTXR2 NM_058172.5(ANTXR2): c.378+8A> C single nucleotide variant Benign rs4594664 GRCh37 Chromosome 4, 80977078: 80977078
28 ANTXR2 NM_058172.5(ANTXR2): c.252G> A (p.Val84=) single nucleotide variant Uncertain significance rs886059657 GRCh38 Chromosome 4, 80069480: 80069480
29 ANTXR2 NM_058172.5(ANTXR2): c.252G> A (p.Val84=) single nucleotide variant Uncertain significance rs886059657 GRCh37 Chromosome 4, 80990634: 80990634
30 ANTXR2 NM_058172.5(ANTXR2): c.225-4G> A single nucleotide variant Likely benign rs141355689 GRCh38 Chromosome 4, 80069511: 80069511
31 ANTXR2 NM_058172.5(ANTXR2): c.225-4G> A single nucleotide variant Likely benign rs141355689 GRCh37 Chromosome 4, 80990665: 80990665
32 ANTXR2 NM_058172.5(ANTXR2): c.-82C> A single nucleotide variant Benign rs13140055 GRCh38 Chromosome 4, 80072642: 80072642
33 ANTXR2 NM_058172.5(ANTXR2): c.-82C> A single nucleotide variant Benign rs13140055 GRCh37 Chromosome 4, 80993796: 80993796
34 ANTXR2 NM_058172.5(ANTXR2): c.-410G> A single nucleotide variant Likely benign rs72869605 GRCh38 Chromosome 4, 80072970: 80072970
35 ANTXR2 NM_058172.5(ANTXR2): c.-410G> A single nucleotide variant Likely benign rs72869605 GRCh37 Chromosome 4, 80994124: 80994124
36 ANTXR2 NM_058172.5(ANTXR2): c.-442C> G single nucleotide variant Uncertain significance rs886059663 GRCh38 Chromosome 4, 80073002: 80073002
37 ANTXR2 NM_058172.5(ANTXR2): c.-442C> G single nucleotide variant Uncertain significance rs886059663 GRCh37 Chromosome 4, 80994156: 80994156
38 ANTXR2 NM_058172.5(ANTXR2): c.-455C> T single nucleotide variant Uncertain significance rs886059664 GRCh38 Chromosome 4, 80073015: 80073015
39 ANTXR2 NM_058172.5(ANTXR2): c.-455C> T single nucleotide variant Uncertain significance rs886059664 GRCh37 Chromosome 4, 80994169: 80994169
40 ANTXR2 NM_058172.5(ANTXR2): c.1069G> C (p.Ala357Pro) single nucleotide variant Benign rs12647691 GRCh38 Chromosome 4, 79984836: 79984836
41 ANTXR2 NM_058172.5(ANTXR2): c.1069G> C (p.Ala357Pro) single nucleotide variant Benign rs12647691 GRCh37 Chromosome 4, 80905990: 80905990
42 ANTXR2 NM_058172.5(ANTXR2): c.1068C> A (p.Pro356=) single nucleotide variant Likely benign rs72653288 GRCh38 Chromosome 4, 79984837: 79984837
43 ANTXR2 NM_058172.5(ANTXR2): c.1068C> A (p.Pro356=) single nucleotide variant Likely benign rs72653288 GRCh37 Chromosome 4, 80905991: 80905991
44 ANTXR2 NM_058172.5(ANTXR2): c.745C> T (p.Arg249Trp) single nucleotide variant Uncertain significance rs377185226 GRCh38 Chromosome 4, 80033523: 80033523
45 ANTXR2 NM_058172.5(ANTXR2): c.745C> T (p.Arg249Trp) single nucleotide variant Uncertain significance rs377185226 GRCh37 Chromosome 4, 80954677: 80954677
46 ANTXR2 NM_058172.5(ANTXR2): c.637-10dupT duplication Uncertain significance rs373672335 GRCh38 Chromosome 4, 80036042: 80036042
47 ANTXR2 NM_058172.5(ANTXR2): c.637-10dupT duplication Uncertain significance rs373672335 GRCh37 Chromosome 4, 80957196: 80957196
48 ANTXR2 NM_058172.5(ANTXR2): c.324T> C (p.Asp108=) single nucleotide variant Uncertain significance rs184413338 GRCh38 Chromosome 4, 80055986: 80055986
49 ANTXR2 NM_058172.5(ANTXR2): c.324T> C (p.Asp108=) single nucleotide variant Uncertain significance rs184413338 GRCh37 Chromosome 4, 80977140: 80977140
50 ANTXR2 NM_058172.5(ANTXR2): c.233T> C (p.Met78Thr) single nucleotide variant Uncertain significance rs886059658 GRCh38 Chromosome 4, 80069499: 80069499

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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