MCID: HYL004
MIFTS: 40

Hyaline Fibromatosis Syndrome

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

Aliases & Classifications for Hyaline Fibromatosis Syndrome

MalaCards integrated aliases for Hyaline Fibromatosis Syndrome:

Name: Hyaline Fibromatosis Syndrome 57 53 59 75 37 29 13 6 40
Infantile Systemic Hyalinosis 53 25 59 75
Juvenile Hyaline Fibromatosis 53 25 59 75
Hyalinosis, Systemic 57 44 73
Puretic Syndrome 53 25 59
Inherited Systemic Hyalinosis 53 25
Systemic Hyalinosis 25 75
Hfs 57 75
Murray-Puretic-Drescher Syndrome 59
Hyalinosis, Systemic Infantile 55
Neurofibromatosis 1 73
Juvenile Hyalinosis 25
Molluscum Fibrosum 25
Murray Syndrome 25
Ish 75
Jhf 75

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:
Mortality/Aging death in infancy
Onset and clinical course variable expressivity progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hyaline Fibromatosis Syndrome

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.

MalaCards based summary : Hyaline Fibromatosis Syndrome, also known as infantile systemic hyalinosis, is related to hyalinosis systemic short stature and hemifacial spasm, 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 ovary, and related phenotypes are gingival fibromatosis and gingival overgrowth

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)

UniProtKB/Swiss-Prot : 75 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.

Genetics Home Reference : 25 Infantile systemic hyalinosis is a disorder that severely affects many areas of the body, including the skin, joints, bones, and internal organs. Hyalinosis refers to the abnormal accumulation of a clear (hyaline) substance in body tissues. The signs and symptoms of this condition are present at birth or develop within the first few months of life. Infantile systemic hyalinosis is characterized by painful skin bumps that frequently appear on the hands, neck, scalp, ears, and nose. They also develop in joint creases and the genital region. These skin bumps may be large or small and often increase in number over time.

Wikipedia : 76 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 all 45)
# Related Disease Score Top Affiliating Genes
1 hyalinosis systemic short stature 12.0
2 hemifacial spasm 11.3
3 hypertrichosis, congenital generalized, with or without gingival hyperplasia 11.2
4 hyalinosis, inherited systemic 11.1
5 hydrops fetalis, nonimmune 11.1
6 reynolds syndrome 11.0
7 congestive heart failure 10.9
8 immune hydrops fetalis 10.9
9 fibromatosis 10.5
10 systolic heart failure 10.4
11 breast cancer 10.1
12 elephantiasis 10.1
13 heart disease 9.9
14 hypertensive heart disease 9.9
15 adenocarcinoma 9.9
16 resting heart rate, variation in 9.9
17 atrioventricular block 9.9
18 sleep apnea 9.9
19 diastolic heart failure 9.9
20 pheochromocytoma 9.8
21 lung cancer susceptibility 3 9.8
22 diabetes mellitus 9.8
23 cervicitis 9.8
24 gastroesophageal junction adenocarcinoma 9.8
25 cervix uteri carcinoma in situ 9.8
26 cervical intraepithelial neoplasia 9.8
27 coloboma of iris 9.8
28 apnea, obstructive sleep 9.7
29 cardiac conduction defect 9.7
30 diabetes mellitus, noninsulin-dependent 9.7
31 aging 9.7
32 anxiety 9.7
33 hydrops fetalis, nonimmune, and/or atrial septal defect 9.7
34 angina pectoris 9.7
35 dilated cardiomyopathy 9.7
36 atrial fibrillation 9.7
37 glucose intolerance 9.7
38 cystic lymphangioma 9.7
39 fibrosarcoma 9.7
40 hyperglycemia 9.7
41 central sleep apnea 9.7
42 fetal edema 9.7
43 hydrops fetalis 9.7
44 depression 9.7
45 myxofibrosarcoma 9.7

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



Diseases related to Hyaline Fibromatosis Syndrome

Symptoms & Phenotypes for Hyaline Fibromatosis Syndrome

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

Human phenotypes related to Hyaline Fibromatosis Syndrome:

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

UMLS symptoms related to Hyaline Fibromatosis Syndrome:


neuralgia

Drugs & Therapeutics for Hyaline Fibromatosis Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 BioHFS - Biomarker for Hyaline Fibromatosis Syndrome 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 29 ANTXR2

Anatomical Context for Hyaline Fibromatosis Syndrome

MalaCards organs/tissues related to Hyaline Fibromatosis Syndrome:

41
Skin, Bone, Ovary, Skeletal Muscle, Thymus, Adrenal Gland

Publications for Hyaline Fibromatosis Syndrome

Articles related to Hyaline Fibromatosis Syndrome:

(show all 17)
# 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
CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome. ( 28604699 )
2017
4
Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome. ( 28103792 )
2017
5
Hyaline fibromatosis syndrome: cutaneous manifestations. ( 27192526 )
2016
6
Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 Gene. ( 27174544 )
2016
7
Hyaline Fibromatosis Syndrome: A Rare Inherited Disorder. ( 27688461 )
2016
8
Hyperpigmentation over the metacarpophalangeal joints and the malleoli in a case of hyaline fibromatosis syndrome with ANTXR2 mutations. ( 26335786 )
2015
9
A mild case of hyaline fibromatosis syndrome, presenting in an adult. ( 25809500 )
2015
10
Hyaline fibromatosis syndrome with mutation c.1074delT of the CMG2 gene: a case report. ( 25186005 )
2014
11
Hyaline fibromatosis of Hoffa's fat pad in a patient with a mild type of hyaline fibromatosis syndrome. ( 24132693 )
2013
12
In-depth analysis of hyaline fibromatosis syndrome frameshift mutations at the same site reveal the necessity of personalized therapy. ( 23554269 )
2013
13
Hyaline fibromatosis syndrome resulting from a new homozygous missense mutation, p.Gly116Val, in ANTXR2. ( 23734713 )
2013
14
Hyaline fibromatosis syndrome: new unifying term and surgical approach. ( 22771664 )
2012
15
Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system. ( 22383261 )
2012
16
Juvenile hyaline fibromatosis or hyaline fibromatosis syndrome? ( 23455832 )
2012
17
Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors. ( 21328543 )
2011

Variations for Hyaline Fibromatosis Syndrome

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

75
# 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 87)
# 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.1392C> A (p.Asp464Glu) single nucleotide variant Uncertain significance rs770869771 GRCh38 Chromosome 4, 79977657: 79977657
23 ANTXR2 NM_058172.5(ANTXR2): c.1392C> A (p.Asp464Glu) single nucleotide variant Uncertain significance rs770869771 GRCh37 Chromosome 4, 80898811: 80898811
24 ANTXR2 NM_058172.5(ANTXR2): c.378+8A> C single nucleotide variant Benign rs4594664 GRCh38 Chromosome 4, 80055924: 80055924
25 ANTXR2 NM_058172.5(ANTXR2): c.378+8A> C single nucleotide variant Benign rs4594664 GRCh37 Chromosome 4, 80977078: 80977078
26 ANTXR2 NM_058172.5(ANTXR2): c.252G> A (p.Val84=) single nucleotide variant Uncertain significance rs886059657 GRCh38 Chromosome 4, 80069480: 80069480
27 ANTXR2 NM_058172.5(ANTXR2): c.252G> A (p.Val84=) single nucleotide variant Uncertain significance rs886059657 GRCh37 Chromosome 4, 80990634: 80990634
28 ANTXR2 NM_058172.5(ANTXR2): c.225-4G> A single nucleotide variant Likely benign rs141355689 GRCh38 Chromosome 4, 80069511: 80069511
29 ANTXR2 NM_058172.5(ANTXR2): c.225-4G> A single nucleotide variant Likely benign rs141355689 GRCh37 Chromosome 4, 80990665: 80990665
30 ANTXR2 NM_058172.5(ANTXR2): c.-82C> A single nucleotide variant Benign rs13140055 GRCh38 Chromosome 4, 80072642: 80072642
31 ANTXR2 NM_058172.5(ANTXR2): c.-82C> A single nucleotide variant Benign rs13140055 GRCh37 Chromosome 4, 80993796: 80993796
32 ANTXR2 NM_058172.5(ANTXR2): c.-230_-229delAA deletion Benign rs80314910 GRCh38 Chromosome 4, 80072789: 80072790
33 ANTXR2 NM_058172.5(ANTXR2): c.-230_-229delAA deletion Benign rs80314910 GRCh37 Chromosome 4, 80993943: 80993944
34 ANTXR2 NM_058172.5(ANTXR2): c.-410G> A single nucleotide variant Likely benign rs72869605 GRCh37 Chromosome 4, 80994124: 80994124
35 ANTXR2 NM_058172.5(ANTXR2): c.-410G> A single nucleotide variant Likely benign rs72869605 GRCh38 Chromosome 4, 80072970: 80072970
36 ANTXR2 NM_058172.5(ANTXR2): c.-442C> G single nucleotide variant Uncertain significance rs886059663 GRCh37 Chromosome 4, 80994156: 80994156
37 ANTXR2 NM_058172.5(ANTXR2): c.-442C> G single nucleotide variant Uncertain significance rs886059663 GRCh38 Chromosome 4, 80073002: 80073002
38 ANTXR2 NM_058172.5(ANTXR2): c.-455C> T single nucleotide variant Uncertain significance rs886059664 GRCh37 Chromosome 4, 80994169: 80994169
39 ANTXR2 NM_058172.5(ANTXR2): c.-455C> T single nucleotide variant Uncertain significance rs886059664 GRCh38 Chromosome 4, 80073015: 80073015
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 rs776155948 GRCh38 Chromosome 4, 80036042: 80036042
47 ANTXR2 NM_058172.5(ANTXR2): c.637-10dupT duplication Uncertain significance rs776155948 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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