SJS1
MCID: SCH068
MIFTS: 54

Schwartz-Jampel Syndrome, Type 1 (SJS1)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Schwartz-Jampel Syndrome, Type 1

MalaCards integrated aliases for Schwartz-Jampel Syndrome, Type 1:

Name: Schwartz-Jampel Syndrome, Type 1 58 26 13
Schwartz-Jampel Syndrome 58 77 54 26 60 76 38 56 74
Schwartz-Jampel-Aberfeld Syndrome 58 12 54 26 60
Sjs1 58 54 26 60 76
Sjs 58 54 26 60
Myotonic Myopathy, Dwarfism, Chondrodystrophy, Ocular and Facial Anomalies 12 54 60
Osteochondromuscular Dystrophy 12 54 60
Chondrodystrophic Myotonia 58 54 26
Burton Skeletal Dysplasia 12 54 60
Myotonic Chondrodystrophy 12 54 60
Catel-Hempel Syndrome 12 54 60
Aberfeld Syndrome 12 54 60
Burton Syndrome 12 54 60
Sja Syndrome 58 54 26
Myotonic Myopathy, Dwarfism, Chondrodystrophy, and Ocular and Facial Abnormalities 58 26
Dysostosis Enchondralis Metaepiphysaria, Catel-Hempel Type 54 60
Schwartz-Jampel Syndrome Type 1 12 60
Schwartz Jampel Syndrome Type 1 30 6
Schwartz-Jampel Syndrome 1 12 15
Myotonic Myopathy Dwarfism Chondrodystrophy and Ocular and Facial Abnormalities 54
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 74
Catel-Hempel Type Dysostosis Enchondralis Metaepiphysaria 12
Congenital Blepharophimosis, Myopia, Myopathy Syndrome 74
Schwartz Jampel Aberfeld Syndrome 54
Syndrome, Schwartz-Jampel, Type 1 41
Schwartz-Jampel Syndrome; Sjs 58
Schwartz Jampel Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
schwartz-jampel syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disease with onset in infancy
contractures most severe by midadolescence
anesthesia complications include difficult intubation secondary to microstomia and risk of malignant hyperthermia


HPO:

33
schwartz-jampel syndrome, type 1:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Schwartz-Jampel Syndrome, Type 1

NIH Rare Diseases : 54 Schwartz Jampel syndrome (SJS) is a genetic disorder that affects bone and muscle development. Signs and symptoms may include muscle stiffness and weakness; joint deformities that affect mobility (contractures); short stature; small "fixed" facial features; and eye abnormalities. Previously, SJS was divided into types 1 and 2. SJS type 2 (also refereed to as neonatal SJS) is now considered a distinct, more severe condition called Stuve-Wiedemann syndrome, which is caused by mutations in the LIFR gene. SJS is subdivided into types 1A and 1B, differentiated by severity and age of onset. Type 1A, considered classic SJS, is the most commonly recognized type. People with type 1A typically develop more mild symptoms later in childhood, while individuals with type 1B have symptoms that are more severe and are apparent immediately after birth. SJS is caused by mutations in the HSPG2 gene. SJS is thought to be inherited in an autosomal recessive manner; however, some cases reported in the medical literature suggest an autosomal dominant inheritance pattern. Treatment for type 1A and 1B aims to normalize muscle activity through various methods including massage and stretching, medications such as botulinum toxin (Botox), and surgery. 

MalaCards based summary : Schwartz-Jampel Syndrome, Type 1, also known as schwartz-jampel syndrome, is related to stevens-johnson syndrome/toxic epidermal necrolysis and severe cutaneous adverse reaction, and has symptoms including muscle weakness An important gene associated with Schwartz-Jampel Syndrome, Type 1 is HSPG2 (Heparan Sulfate Proteoglycan 2), and among its related pathways/superpathways are ECM-receptor interaction and Degradation of the extracellular matrix. Affiliated tissues include bone, eye and skeletal muscle, and related phenotypes are genu valgum and abnormality of epiphysis morphology

Disease Ontology : 12 An autosomal recessive disease characterized by neuromyotonia and chondrodysplasia that has material basis in hypomorphic mutations in the HSPG2 gene on chromosome 1p36.

Genetics Home Reference : 26 Schwartz-Jampel syndrome is a rare condition characterized by permanent muscle stiffness (myotonia) and bone abnormalities known as chondrodysplasia. The signs and symptoms of this condition become apparent sometime after birth, usually in early childhood. Either muscle stiffness or chondrodysplasia can appear first. The muscle and bone abnormalities worsen in childhood, although most affected individuals have a normal lifespan. The specific features of Schwartz-Jampel syndrome vary widely.

UniProtKB/Swiss-Prot : 76 Schwartz-Jampel syndrome: Rare autosomal recessive disorder characterized by permanent myotonia (prolonged failure of muscle relaxation) and skeletal dysplasia, resulting in reduced stature, kyphoscoliosis, bowing of the diaphyses and irregular epiphyses.

Wikipedia : 77 Schwartz–Jampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which... more...

Description from OMIM: 255800

Related Diseases for Schwartz-Jampel Syndrome, Type 1

Diseases related to Schwartz-Jampel Syndrome, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 79)
# Related Disease Score Top Affiliating Genes
1 stevens-johnson syndrome/toxic epidermal necrolysis 12.3
2 severe cutaneous adverse reaction 12.1
3 kyphomelic dysplasia 11.8
4 sjogren syndrome 11.7
5 stuve-wiedemann syndrome 11.5
6 kniest-like dysplasia with pursed lips and ectopia lentis 11.3
7 stevens-johnson syndrome/toxic epidermal necrolysis overlap syndrome 11.1
8 swyer-james syndrome 11.1
9 myotonia 10.8
10 blepharospasm 10.6
11 malignant hyperthermia 10.5
12 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 10.5
13 cleft palate, isolated 10.3
14 myasthenic syndrome, congenital, 5 10.3
15 sleep apnea 10.3
16 immunoglobulin alpha deficiency 10.3
17 ptosis 10.3
18 von willebrand's disease 10.3
19 myopathy 10.3
20 pneumonia 10.3
21 pyle disease 10.2
22 blood group, vel system 10.2
23 bone disease 10.2
24 dwarfism 10.2
25 blood group, junior system 10.2
26 blood group--wright antigen 10.1
27 rheumatoid arthritis 10.1
28 bladder cancer 10.0
29 blood group, kidd system 10.0
30 keratitis, hereditary 10.0
31 prostate cancer 10.0
32 prostate cancer, hereditary, 8 10.0
33 prostate cancer, hereditary, 6 10.0
34 amyotrophic lateral sclerosis 1 9.8
35 elastosis perforans serpiginosa 9.8
36 retinoblastoma 9.8
37 schizophrenia 9.8
38 thrombophilia due to thrombin defect 9.8
39 mckusick-kaufman syndrome 9.8
40 pulmonary alveolar microlithiasis 9.8
41 tardive dyskinesia 9.8
42 horns in sheep 9.8
43 bardet-biedl syndrome 6 9.8
44 hemifacial myohyperplasia 9.8
45 hepatitis c virus 9.8
46 deafness-infertility syndrome 9.8
47 bardet-biedl syndrome 2 9.8
48 bardet-biedl syndrome 10 9.8
49 bardet-biedl syndrome 11 9.8
50 bardet-biedl syndrome 12 9.8

Graphical network of the top 20 diseases related to Schwartz-Jampel Syndrome, Type 1:



Diseases related to Schwartz-Jampel Syndrome, Type 1

Symptoms & Phenotypes for Schwartz-Jampel Syndrome, Type 1

Human phenotypes related to Schwartz-Jampel Syndrome, Type 1:

60 33 (show top 50) (show all 126)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 genu valgum 60 33 hallmark (90%) Very frequent (99-80%) HP:0002857
2 abnormality of epiphysis morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0005930
3 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
4 gait disturbance 60 33 hallmark (90%) Very frequent (99-80%) HP:0001288
5 hip dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001385
6 skeletal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002652
7 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
8 pes planus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001763
9 visual impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000505
10 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
11 hypertonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001276
12 emg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0003457
13 full cheeks 60 33 hallmark (90%) Very frequent (99-80%) HP:0000293
14 myotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002486
15 abnormality of the metaphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000944
16 micromelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002983
17 everted lower lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000232
18 arthrogryposis multiplex congenita 60 33 hallmark (90%) Very frequent (99-80%) HP:0002804
19 low-set, posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368
20 narrow mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000160
21 pursed lips 60 33 hallmark (90%) Very frequent (99-80%) HP:0000205
22 trismus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000211
23 metatarsus valgus 60 33 hallmark (90%) Very frequent (99-80%) HP:0010508
24 elevated aldolase level 60 33 hallmark (90%) Very frequent (99-80%) HP:0012544
25 elevated serum creatine kinase 33 hallmark (90%) HP:0003236
26 short neck 60 33 frequent (33%) Frequent (79-30%) HP:0000470
27 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
28 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
29 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
30 kyphosis 60 33 frequent (33%) Frequent (79-30%) HP:0002808
31 hyperlordosis 60 33 frequent (33%) Frequent (79-30%) HP:0003307
32 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
33 pectus carinatum 60 33 frequent (33%) Frequent (79-30%) HP:0000768
34 myopathy 60 33 frequent (33%) Frequent (79-30%) HP:0003198
35 osteoporosis 60 33 frequent (33%) Frequent (79-30%) HP:0000939
36 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
37 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
38 platyspondyly 60 33 frequent (33%) Frequent (79-30%) HP:0000926
39 coxa valga 60 33 frequent (33%) Frequent (79-30%) HP:0002673
40 flat face 60 33 frequent (33%) Frequent (79-30%) HP:0012368
41 myopia 60 33 frequent (33%) Frequent (79-30%) HP:0000545
42 spinal rigidity 60 33 frequent (33%) Frequent (79-30%) HP:0003306
43 mask-like facies 60 33 frequent (33%) Frequent (79-30%) HP:0000298
44 prominent nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000426
45 overfolded helix 60 33 frequent (33%) Frequent (79-30%) HP:0000396
46 abnormality of the pharynx 60 33 frequent (33%) Frequent (79-30%) HP:0000600
47 blepharophimosis 60 33 frequent (33%) Frequent (79-30%) HP:0000581
48 hyporeflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001265
49 high pitched voice 60 33 frequent (33%) Frequent (79-30%) HP:0001620
50 wrist flexion contracture 60 33 frequent (33%) Frequent (79-30%) HP:0001239

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
overfolded helices

Head And Neck Eyes:
ptosis
cataract
myopia
blepharophimosis
microcornea
more
Skeletal Spine:
kyphosis
platyspondyly
kyphoscoliosis
coronal cleft vertebrae
lumbar lordosis

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum

Skeletal Feet:
pes planus
talipes equinovarus
toe contractures

Head And Neck Face:
full cheeks
flat face
low hairline
normal face at birth
sad, fixed facies

Skin Nails Hair Hair:
generalized hirsutism
low hairline

Head And Neck Mouth:
pursed lips
small mouth

Skeletal Hands:
wrist contractures
finger contractures

Genitourinary Internal Genitalia Male:
small testes

Voice:
small, high-pitched voice

Head And Neck Neck:
short neck

Muscle Soft Tissue:
muscle weakness
myotonia
muscle wasting
muscular hypertrophy
emg - repetitive muscle discharges

Genitourinary External Genitalia Male:
inguinal hernia

Abdomen External Features:
umbilical hernia

Skeletal:
osteoporosis
delayed bone age

Skeletal Pelvis:
coxa valga
congenital hip dislocation
coxa vara
hip contracture
fragmentation of femoral epiphyses
more
Neurologic Central Nervous System:
hyporeflexia
mental retardation (25%)

Skeletal Skull:
small mandible

Skeletal Limbs:
widened metaphyses
slender diaphysis
anterior bowing of long bones
elbow, knee, shoulder contractures

Growth Height:
short stature (postnatal onset)

Clinical features from OMIM:

255800

UMLS symptoms related to Schwartz-Jampel Syndrome, Type 1:


muscle weakness

MGI Mouse Phenotypes related to Schwartz-Jampel Syndrome, Type 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.26 CD44 FURIN HSPG2 MME
2 liver/biliary system MP:0005370 8.92 CD44 FURIN HSPG2 MME

Drugs & Therapeutics for Schwartz-Jampel Syndrome, Type 1

Search Clinical Trials , NIH Clinical Center for Schwartz-Jampel Syndrome, Type 1

Genetic Tests for Schwartz-Jampel Syndrome, Type 1

Genetic tests related to Schwartz-Jampel Syndrome, Type 1:

# Genetic test Affiliating Genes
1 Schwartz Jampel Syndrome Type 1 30 HSPG2

Anatomical Context for Schwartz-Jampel Syndrome, Type 1

MalaCards organs/tissues related to Schwartz-Jampel Syndrome, Type 1:

42
Bone, Eye, Skeletal Muscle, Prostate, Testes, Kidney

Publications for Schwartz-Jampel Syndrome, Type 1

Articles related to Schwartz-Jampel Syndrome, Type 1:

(show top 50) (show all 109)
# Title Authors Year
1
Comment on "Schwartz-Jampel syndrome: Is risk of malignant hyperthermia the same as that of the general population?" ( 31007664 )
2019
2
Schwartz-Jampel syndrome: Is risk of malignant hyperthermia the same as that of the general population? ( 30100861 )
2018
3
A successful anesthetic approach in a patient with Schwartz-Jampel syndrome. ( 29416471 )
2018
4
Orthodontic management of a patient with Schwartz-Jampel Syndrome. ( 29805434 )
2018
5
Stiffness, Facial Dysmorphism, and Skeletal Abnormalities: Schwartz-Jampel Syndrome 1A. ( 29866592 )
2018
6
Perlecan/HSPG2: Signaling role of domain IV in chondrocyte clustering with implications for Schwartz-Jampel Syndrome. ( 30203597 )
2018
7
Long-term follow-up of a Schwartz-Jampel syndrome case. ( 30448822 )
2018
8
Novel HSPG2 mutations causing Schwartz‑Jampel syndrome type 1 in a Chinese family: A case report. ( 29901129 )
2018
9
Treatment of Blepharospasm in Schwartz-Jampel Syndrome: Botulinum Toxin A Injection or Surgery. ( 26020714 )
2017
10
Schwartz-Jampel syndrome is not related to malignant hyperthermia. ( 29457076 )
2017
11
Botulinum toxin type A in the treatment of facial myotonia in Schwartz-Jampel syndrome. ( 28187499 )
2017
12
Schwartz-Jampel Syndrome. ( 28129933 )
2017
13
Orbicularis Oculi Myectomy as a Treatment for Blepharospasm in a Case of Schwartz Jampel Syndrome. ( 27621795 )
2016
14
Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing. ( 27521129 )
2016
15
Schwartz-Jampel syndrome with gastroduodenal bleeding. ( 27857801 )
2016
16
Successful airway management using a MultiViewScope handle with a stylet scope in a patient with Schwartz-Jampel syndrome. ( 29492431 )
2016
17
A missense mutation in domain III in HSPG2 in Schwartz-Jampel syndrome compromises secretion of perlecan into the extracellular space. ( 26031903 )
2015
18
Schwartz-Jampel syndrome. ( 26167227 )
2015
19
The Schwartz-Jampel syndrome: Case report and review of literature. ( 26436077 )
2015
20
Surgical management of 2 cases with Schwartz-Jampel syndrome. ( 26651316 )
2015
21
Schwartz Jampel syndrome in children. ( 23219824 )
2013
22
Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome. ( 24011702 )
2013
23
Windswept deformity in a patient with Schwartz-Jampel syndrome. ( 22430668 )
2012
24
A mouse model of Schwartz-Jampel syndrome reveals myelinating Schwann cell dysfunction with persistent axonal depolarization in vitro and distal peripheral nerve hyperexcitability when perlecan is lacking. ( 22449950 )
2012
25
Schwartz-Jampel syndrome: a review of the literature and case report. ( 22591433 )
2012
26
Schwartz-Jampel syndrome. ( 22610743 )
2010
27
A case of Schwartz-Jampel syndrome with cleft palate. ( 19733405 )
2009
28
Botulinum toxin A injections for the treatment of Schwartz-Jampel syndrome: a case series. ( 19168812 )
2009
29
Electrophysiological studies in a mouse model of Schwartz-Jampel syndrome demonstrate muscle fiber hyperactivity of peripheral nerve origin. ( 19367640 )
2009
30
Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia. ( 18647752 )
2008
31
Reduced perlecan in mice results in chondrodysplasia resembling Schwartz-Jampel syndrome. ( 17213231 )
2007
32
Results of botulinum toxin: an application to blepharospasm Schwartz-Jampel syndrome. ( 16877909 )
2006
33
Schwartz-Jampel syndrome: surgical management of the myotonia-induced blepharospasm and acquired ptosis after failure with botulinum toxin A injections. ( 16418670 )
2006
34
Crying or smiling? The Schwartz-Jampel syndrome. ( 16737891 )
2006
35
Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome. ( 16927315 )
2006
36
Dental findings and muscular-skeletal features in Schwartz-Jampel syndrome: case report of two affected siblings. ( 17249445 )
2006
37
The effect of the Schwartz-Jampel syndrome on masticatory and facial musculatures--an electromyographic analysis. ( 15981691 )
2005
38
Schwartz-Jampel syndrome and perlecan deficiency. ( 16550923 )
2005
39
Schwartz-Jampel syndrome. ( 15064520 )
2004
40
Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report. ( 12839625 )
2003
41
102nd ENMC International Workshop on Schwartz-Jampel syndrome, 14-16 December, 2001, Naarden, The Netherlands. ( 12868505 )
2003
42
Craniocervical CT and MR imaging of Schwartz-Jampel syndrome. ( 13679294 )
2003
43
Schwartz-Jampel syndrome: three pediatric case reports. ( 14577682 )
2003
44
Resistance to rocuronium in a child with Schwartz-Jampel syndrome type 1 B. ( 11930277 )
2002
45
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. ( 11941538 )
2002
46
Schwartz-Jampel syndrome: report of one case. ( 12238912 )
2002
47
Schwartz-Jampel syndrome: report of five cases. ( 12364940 )
2002
48
Oro-dental manifestations of the Schwartz-Jampel syndrome. ( 12413175 )
2002
49
Orbicularis myectomy with levator advancement in Schwartz-Jampel syndrome. ( 11704053 )
2001
50
Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease. ( 11038441 )
2000

Variations for Schwartz-Jampel Syndrome, Type 1

UniProtKB/Swiss-Prot genetic disease variations for Schwartz-Jampel Syndrome, Type 1:

76
# Symbol AA change Variation ID SNP ID
1 HSPG2 p.Cys1532Tyr VAR_014122 rs137853248

ClinVar genetic disease variations for Schwartz-Jampel Syndrome, Type 1:

6 (show top 50) (show all 562)
# Gene Variation Type Significance SNP ID Assembly Location
1 HSPG2 HSPG2, IVS64DS, A-G, +4 single nucleotide variant Pathogenic
2 HSPG2 NM_005529.6(HSPG2): c.4595G> A (p.Cys1532Tyr) single nucleotide variant Pathogenic rs137853248 GRCh37 Chromosome 1, 22191367: 22191367
3 HSPG2 NM_005529.6(HSPG2): c.4595G> A (p.Cys1532Tyr) single nucleotide variant Pathogenic rs137853248 GRCh38 Chromosome 1, 21864874: 21864874
4 HSPG2 HSPG2, IVS56DS, A-G, +4 single nucleotide variant Pathogenic
5 HSPG2 HSPG2, EX60/61 FUSION undetermined variant Pathogenic
6 HSPG2 HSPG2, 8544G-A single nucleotide variant Pathogenic
7 HSPG2 HSPG2, 9-BP DEL deletion Pathogenic
8 HSPG2 HSPG2, 7,108-BP DEL deletion Pathogenic
9 HSPG2 NM_005529.6(HSPG2): c.1082C> A (p.Thr361Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs75467696 GRCh37 Chromosome 1, 22211941: 22211941
10 HSPG2 NM_005529.6(HSPG2): c.1082C> A (p.Thr361Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs75467696 GRCh38 Chromosome 1, 21885448: 21885448
11 HSPG2 NM_005529.6(HSPG2): c.1998+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs377228309 GRCh37 Chromosome 1, 22207140: 22207140
12 HSPG2 NM_005529.6(HSPG2): c.1998+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs377228309 GRCh38 Chromosome 1, 21880647: 21880647
13 HSPG2 NM_005529.6(HSPG2): c.2074G> A (p.Val692Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143669458 GRCh37 Chromosome 1, 22206977: 22206977
14 HSPG2 NM_005529.6(HSPG2): c.2074G> A (p.Val692Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143669458 GRCh38 Chromosome 1, 21880484: 21880484
15 HSPG2 NM_005529.6(HSPG2): c.3269G> A (p.Arg1090Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs78889849 GRCh37 Chromosome 1, 22202155: 22202155
16 HSPG2 NM_005529.6(HSPG2): c.3269G> A (p.Arg1090Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs78889849 GRCh38 Chromosome 1, 21875662: 21875662
17 HSPG2 NM_005529.6(HSPG2): c.3336C> T (p.Pro1112=) single nucleotide variant Conflicting interpretations of pathogenicity rs2228348 GRCh37 Chromosome 1, 22201462: 22201462
18 HSPG2 NM_005529.6(HSPG2): c.3336C> T (p.Pro1112=) single nucleotide variant Conflicting interpretations of pathogenicity rs2228348 GRCh38 Chromosome 1, 21874969: 21874969
19 HSPG2 NM_005529.6(HSPG2): c.4627-3delT deletion Conflicting interpretations of pathogenicity rs368983547 GRCh37 Chromosome 1, 22190709: 22190709
20 HSPG2 NM_005529.6(HSPG2): c.4627-3delT deletion Conflicting interpretations of pathogenicity rs368983547 GRCh38 Chromosome 1, 21864216: 21864216
21 HSPG2 NM_005529.6(HSPG2): c.4916C> T (p.Thr1639Met) single nucleotide variant Conflicting interpretations of pathogenicity rs142433309 GRCh37 Chromosome 1, 22188289: 22188289
22 HSPG2 NM_005529.6(HSPG2): c.4916C> T (p.Thr1639Met) single nucleotide variant Conflicting interpretations of pathogenicity rs142433309 GRCh38 Chromosome 1, 21861796: 21861796
23 HSPG2 NM_005529.7(HSPG2): c.5755C> T (p.Arg1919Cys) single nucleotide variant Benign/Likely benign rs2229474 GRCh37 Chromosome 1, 22182115: 22182115
24 HSPG2 NM_005529.7(HSPG2): c.5755C> T (p.Arg1919Cys) single nucleotide variant Benign/Likely benign rs2229474 GRCh38 Chromosome 1, 21855622: 21855622
25 HSPG2 NM_005529.6(HSPG2): c.5702-5G> A single nucleotide variant Benign rs2290498 GRCh37 Chromosome 1, 22182173: 22182173
26 HSPG2 NM_005529.6(HSPG2): c.5702-5G> A single nucleotide variant Benign rs2290498 GRCh38 Chromosome 1, 21855680: 21855680
27 HSPG2 NM_005529.6(HSPG2): c.7438C> T (p.Arg2480Trp) single nucleotide variant Uncertain significance rs143437991 GRCh37 Chromosome 1, 22176542: 22176542
28 HSPG2 NM_005529.6(HSPG2): c.7438C> T (p.Arg2480Trp) single nucleotide variant Uncertain significance rs143437991 GRCh38 Chromosome 1, 21850049: 21850049
29 HSPG2 NM_005529.6(HSPG2): c.10937G> A (p.Arg3646His) single nucleotide variant Conflicting interpretations of pathogenicity rs112062179 GRCh37 Chromosome 1, 22160001: 22160001
30 HSPG2 NM_005529.6(HSPG2): c.10937G> A (p.Arg3646His) single nucleotide variant Conflicting interpretations of pathogenicity rs112062179 GRCh38 Chromosome 1, 21833508: 21833508
31 HSPG2 NM_005529.7(HSPG2): c.11475C> T (p.Ile3825=) single nucleotide variant Conflicting interpretations of pathogenicity rs111866498 GRCh37 Chromosome 1, 22157795: 22157795
32 HSPG2 NM_005529.7(HSPG2): c.11475C> T (p.Ile3825=) single nucleotide variant Conflicting interpretations of pathogenicity rs111866498 GRCh38 Chromosome 1, 21831302: 21831302
33 HSPG2 NM_005529.6(HSPG2): c.4233C> T (p.Tyr1411=) single nucleotide variant Conflicting interpretations of pathogenicity rs745452577 GRCh37 Chromosome 1, 22192291: 22192291
34 HSPG2 NM_005529.6(HSPG2): c.4233C> T (p.Tyr1411=) single nucleotide variant Conflicting interpretations of pathogenicity rs745452577 GRCh38 Chromosome 1, 21865798: 21865798
35 HSPG2 NM_005529.6(HSPG2): c.2357A> G (p.Asn786Ser) single nucleotide variant Uncertain significance rs143736974 GRCh37 Chromosome 1, 22205601: 22205601
36 HSPG2 NM_005529.6(HSPG2): c.2357A> G (p.Asn786Ser) single nucleotide variant Uncertain significance rs143736974 GRCh38 Chromosome 1, 21879108: 21879108
37 HSPG2 NM_005529.7(HSPG2): c.2869A> C (p.Asn957His) single nucleotide variant Benign/Likely benign rs62618730 GRCh37 Chromosome 1, 22202856: 22202856
38 HSPG2 NM_005529.7(HSPG2): c.2869A> C (p.Asn957His) single nucleotide variant Benign/Likely benign rs62618730 GRCh38 Chromosome 1, 21876363: 21876363
39 HSPG2 NM_005529.6(HSPG2): c.4740+5G> A single nucleotide variant Likely pathogenic rs886039909 GRCh37 Chromosome 1, 22190588: 22190588
40 HSPG2 NM_005529.6(HSPG2): c.4740+5G> A single nucleotide variant Likely pathogenic rs886039909 GRCh38 Chromosome 1, 21864095: 21864095
41 HSPG2 NM_005529.6(HSPG2): c.12982G> A (p.Ala4328Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs114015043 GRCh37 Chromosome 1, 22150130: 22150130
42 HSPG2 NM_005529.6(HSPG2): c.12982G> A (p.Ala4328Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs114015043 GRCh38 Chromosome 1, 21823637: 21823637
43 HSPG2 NM_005529.7(HSPG2): c.8961C> T (p.Gly2987=) single nucleotide variant Uncertain significance rs369899077 GRCh37 Chromosome 1, 22168823: 22168823
44 HSPG2 NM_005529.7(HSPG2): c.8961C> T (p.Gly2987=) single nucleotide variant Uncertain significance rs369899077 GRCh38 Chromosome 1, 21842330: 21842330
45 HSPG2 NM_005529.6(HSPG2): c.5648C> T (p.Ala1883Val) single nucleotide variant Uncertain significance rs140954748 GRCh37 Chromosome 1, 22182333: 22182333
46 HSPG2 NM_005529.6(HSPG2): c.5648C> T (p.Ala1883Val) single nucleotide variant Uncertain significance rs140954748 GRCh38 Chromosome 1, 21855840: 21855840
47 HSPG2 NM_005529.6(HSPG2): c.8397T> G (p.Ser2799=) single nucleotide variant Uncertain significance rs186657949 GRCh37 Chromosome 1, 22172668: 22172668
48 HSPG2 NM_005529.6(HSPG2): c.8397T> G (p.Ser2799=) single nucleotide variant Uncertain significance rs186657949 GRCh38 Chromosome 1, 21846175: 21846175
49 HSPG2 NM_005529.6(HSPG2): c.4877G> A (p.Arg1626His) single nucleotide variant Conflicting interpretations of pathogenicity rs41311989 GRCh37 Chromosome 1, 22188328: 22188328
50 HSPG2 NM_005529.6(HSPG2): c.4877G> A (p.Arg1626His) single nucleotide variant Conflicting interpretations of pathogenicity rs41311989 GRCh38 Chromosome 1, 21861835: 21861835

Expression for Schwartz-Jampel Syndrome, Type 1

Search GEO for disease gene expression data for Schwartz-Jampel Syndrome, Type 1.

Pathways for Schwartz-Jampel Syndrome, Type 1

Pathways related to Schwartz-Jampel Syndrome, Type 1 according to KEGG:

38
# Name Kegg Source Accession
1 ECM-receptor interaction hsa04512

GO Terms for Schwartz-Jampel Syndrome, Type 1

Cellular components related to Schwartz-Jampel Syndrome, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.56 CD44 FURIN HSPG2 MME
2 Golgi lumen GO:0005796 9.16 FURIN HSPG2
3 secretory granule membrane GO:0030667 8.96 CD44 MME
4 focal adhesion GO:0005925 8.8 CD44 HSPG2 MME

Biological processes related to Schwartz-Jampel Syndrome, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.33 FURIN MME MMEL1
2 extracellular matrix disassembly GO:0022617 8.96 CD44 FURIN
3 extracellular matrix organization GO:0030198 8.8 CD44 FURIN HSPG2

Molecular functions related to Schwartz-Jampel Syndrome, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.33 FURIN MME MMEL1
2 metallopeptidase activity GO:0008237 9.32 MME MMEL1
3 metalloendopeptidase activity GO:0004222 9.26 MME MMEL1
4 endopeptidase activity GO:0004175 8.96 FURIN MME
5 peptide binding GO:0042277 8.62 FURIN MME

Sources for Schwartz-Jampel Syndrome, Type 1

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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