MCID: SCH068
MIFTS: 52

Schwartz-Jampel Syndrome, Type 1

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

Aliases & Classifications for Schwartz-Jampel Syndrome, Type 1

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

Name: Schwartz-Jampel Syndrome, Type 1 57 25 13
Schwartz-Jampel Syndrome 57 76 53 25 59 75 37 55 73
Schwartz-Jampel-Aberfeld Syndrome 57 12 53 25 59
Sjs1 57 53 25 59 75
Sjs 57 53 25 59
Myotonic Myopathy, Dwarfism, Chondrodystrophy, Ocular and Facial Anomalies 12 53 59
Osteochondromuscular Dystrophy 12 53 59
Chondrodystrophic Myotonia 57 53 25
Burton Skeletal Dysplasia 12 53 59
Myotonic Chondrodystrophy 12 53 59
Catel-Hempel Syndrome 12 53 59
Aberfeld Syndrome 12 53 59
Burton Syndrome 12 53 59
Sja Syndrome 57 53 25
Myotonic Myopathy, Dwarfism, Chondrodystrophy, and Ocular and Facial Abnormalities 57 25
Dysostosis Enchondralis Metaepiphysaria, Catel-Hempel Type 53 59
Schwartz-Jampel Syndrome Type 1 12 59
Schwartz Jampel Syndrome Type 1 29 6
Schwartz-Jampel Syndrome 1 12 15
Myotonic Myopathy Dwarfism Chondrodystrophy and Ocular and Facial Abnormalities 53
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 73
Catel-Hempel Type Dysostosis Enchondralis Metaepiphysaria 12
Congenital Blepharophimosis, Myopia, Myopathy Syndrome 73
Schwartz Jampel Aberfeld Syndrome 53
Syndrome, Schwartz-Jampel, Type 1 40
Schwartz-Jampel Syndrome; Sjs 57
Schwartz Jampel Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
schwartz-jampel syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
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:

32
schwartz-jampel syndrome, type 1:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Schwartz-Jampel Syndrome, Type 1

NIH Rare Diseases : 53 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 severe cutaneous adverse reaction and stuve-wiedemann syndrome, 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 hypertelorism and short neck

UniProtKB/Swiss-Prot : 75 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.

Genetics Home Reference : 25 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.

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.

Wikipedia : 76 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

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

Symptoms via clinical synopsis from OMIM:

57
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 Limbs:
widened metaphyses
slender diaphysis
anterior bowing of long bones
elbow, knee, shoulder contractures

Skeletal Hands:
finger contractures
wrist contractures

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

Skeletal Skull:
small mandible

GenitourinaryInternal GenitaliaMale:
small testes

Growth Height:
short stature (postnatal onset)


Clinical features from OMIM:

255800

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

59 32 (show top 50) (show all 123)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
2 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
3 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
4 genu valgum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002857
5 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
6 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
7 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
8 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
9 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
10 muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001324
11 dysphonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001618
12 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
13 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
14 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
15 hyperlordosis 59 32 frequent (33%) Frequent (79-30%) HP:0003307
16 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
17 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
18 dental malocclusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0000689
19 hip dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001385
20 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
21 delayed skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002750
22 pectus carinatum 59 32 frequent (33%) Frequent (79-30%) HP:0000768
23 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
24 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
25 pes planus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001763
26 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
27 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
28 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
29 hypertonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001276
30 feeding difficulties in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008872
31 myopathy 59 32 frequent (33%) Frequent (79-30%) HP:0003198
32 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
33 laryngomalacia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001601
34 elevated serum creatine phosphokinase 59 32 hallmark (90%) Very frequent (99-80%) HP:0003236
35 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
36 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
37 full cheeks 59 32 hallmark (90%) Very frequent (99-80%) HP:0000293
38 myotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002486
39 skeletal muscle atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003202
40 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
41 long philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000343
42 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
43 pulmonary arterial hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0002092
44 irritability 59 32 occasional (7.5%) Occasional (29-5%) HP:0000737
45 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
46 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
47 platyspondyly 59 32 frequent (33%) Frequent (79-30%) HP:0000926
48 coxa valga 59 32 frequent (33%) Frequent (79-30%) HP:0002673
49 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
50 generalized hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002230

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


muscle weakness

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.26 CD44 FURIN HSPG2 LIFR
2 liver/biliary system MP:0005370 9.02 CD44 FURIN HSPG2 LIFR 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 29 HSPG2

Anatomical Context for Schwartz-Jampel Syndrome, Type 1

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

41
Bone, Eye, Skeletal Muscle, Testes

Publications for Schwartz-Jampel Syndrome, Type 1

Articles related to Schwartz-Jampel Syndrome, Type 1:

(show all 45)
# Title Authors Year
1
Schwartz-Jampel syndrome is not related to malignant hyperthermia. ( 29457076 )
2017
2
Botulinum toxin type A in the treatment of facial myotonia in Schwartz-Jampel syndrome. ( 28187499 )
2017
3
Orbicularis Oculi Myectomy as a Treatment for Blepharospasm in a Case of Schwartz Jampel Syndrome. ( 27621795 )
2016
4
Schwartz-Jampel syndrome with gastroduodenal bleeding. ( 27857801 )
2016
5
Treatment of Blepharospasm in Schwartz-Jampel Syndrome: Botulinum Toxin A Injection or Surgery. ( 26020714 )
2015
6
The Schwartz-Jampel syndrome: Case report and review of literature. ( 26436077 )
2015
7
A missense mutation in domain III in HSPG2 in Schwartz-Jampel syndrome compromises secretion of perlecan into the extracellular space. ( 26031903 )
2015
8
Schwartz Jampel syndrome in children. ( 23219824 )
2013
9
Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome. ( 24011702 )
2013
10
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
11
Windswept deformity in a patient with Schwartz-Jampel syndrome. ( 22430668 )
2012
12
Schwartz-Jampel syndrome: a review of the literature and case report. ( 22591433 )
2012
13
Schwartz-Jampel syndrome. ( 22610743 )
2010
14
A case of Schwartz-Jampel syndrome with cleft palate. ( 19733405 )
2009
15
Electrophysiological studies in a mouse model of Schwartz-Jampel syndrome demonstrate muscle fiber hyperactivity of peripheral nerve origin. ( 19367640 )
2009
16
Botulinum toxin A injections for the treatment of Schwartz-Jampel syndrome: a case series. ( 19168812 )
2009
17
Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia. ( 18647752 )
2008
18
Reduced perlecan in mice results in chondrodysplasia resembling Schwartz-Jampel syndrome. ( 17213231 )
2007
19
Crying or smiling? The Schwartz-Jampel syndrome. ( 16737891 )
2006
20
Results of botulinum toxin: an application to blepharospasm Schwartz-Jampel syndrome. ( 16877909 )
2006
21
Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome. ( 16927315 )
2006
22
Schwartz-Jampel syndrome: surgical management of the myotonia-induced blepharospasm and acquired ptosis after failure with botulinum toxin A injections. ( 16418670 )
2006
23
Dental findings and muscular-skeletal features in Schwartz-Jampel syndrome: case report of two affected siblings. ( 17249445 )
2006
24
Schwartz-Jampel syndrome and perlecan deficiency. ( 16550923 )
2005
25
The effect of the Schwartz-Jampel syndrome on masticatory and facial musculatures--an electromyographic analysis. ( 15981691 )
2005
26
Schwartz-Jampel syndrome. ( 15064520 )
2004
27
Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report. ( 12839625 )
2003
28
Schwartz-Jampel syndrome: three pediatric case reports. ( 14577682 )
2003
29
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. ( 11941538 )
2002
30
Orbicularis myectomy with levator advancement in Schwartz-Jampel syndrome. ( 11704053 )
2001
31
Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease. ( 11038441 )
2000
32
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia). ( 11101850 )
2000
33
Clinical homogeneity of the StA1ve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2. ( 9674905 )
1998
34
Schwartz-Jampel syndrome type 2 and StA1ve-Wiedemann syndrome: a case for &amp;quot;lumping&amp;quot;. ( 9674906 )
1998
35
Congenital bowing of the long bones in two fetuses presenting features of StA1ve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2. ( 9823491 )
1998
36
Obstructive sleep apnea in Schwartz-Jampel syndrome. ( 9413367 )
1997
37
Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping. ( 8541852 )
1995
38
Schwartz-Jampel syndrome (chondrodystrophic myotonia). ( 1552548 )
1992
39
Modification in the expression and localization of contractile and cytoskeletal proteins in Schwartz-Jampel syndrome. ( 1919599 )
1991
40
Chondrodystrophic myotonia (Schwartz-Jampel syndrome) in South African children. ( 2290482 )
1990
41
Schwartz-Jampel syndrome: II. Na+ channel defect causes myotonia. ( 2164152 )
1990
42
Schwartz-Jampel syndrome with dominant inheritance. ( 2266988 )
1990
43
Chondrodystrophic myotonia (Schwartz-Jampel syndrome): report of a new case and follow-up of patients initially reported in 1969. ( 7137221 )
1982
44
Chondrodystrophic myotonia versus Schwartz-Jampel Syndrome. ( 426490 )
1979
45
Schwartz-Jampel syndrome in two daughters of first cousins. ( 632822 )
1978

Variations for Schwartz-Jampel Syndrome, Type 1

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

75
# 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 552)
# 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_005529.6(HSPG2): c.5755C> T (p.Arg1919Cys) single nucleotide variant Benign/Likely benign rs2229474 GRCh37 Chromosome 1, 22182115: 22182115
24 HSPG2 NM_005529.6(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_005529.6(HSPG2): c.11475C> T (p.Ile3825=) single nucleotide variant Uncertain significance rs111866498 GRCh37 Chromosome 1, 22157795: 22157795
32 HSPG2 NM_005529.6(HSPG2): c.11475C> T (p.Ile3825=) single nucleotide variant Uncertain significance 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_005529.6(HSPG2): c.2869A> C (p.Asn957His) single nucleotide variant Benign/Likely benign rs62618730 GRCh38 Chromosome 1, 21876363: 21876363
38 HSPG2 NM_005529.6(HSPG2): c.2869A> C (p.Asn957His) single nucleotide variant Benign/Likely benign rs62618730 GRCh37 Chromosome 1, 22202856: 22202856
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_005529.6(HSPG2): c.10894C> T (p.Arg3632Ter) single nucleotide variant Pathogenic rs762281715 GRCh37 Chromosome 1, 22160044: 22160044
44 HSPG2 NM_005529.6(HSPG2): c.10894C> T (p.Arg3632Ter) single nucleotide variant Pathogenic rs762281715 GRCh38 Chromosome 1, 21833551: 21833551
45 HSPG2 NM_005529.6(HSPG2): c.8961C> T (p.Gly2987=) single nucleotide variant Uncertain significance rs369899077 GRCh37 Chromosome 1, 22168823: 22168823
46 HSPG2 NM_005529.6(HSPG2): c.8961C> T (p.Gly2987=) single nucleotide variant Uncertain significance rs369899077 GRCh38 Chromosome 1, 21842330: 21842330
47 HSPG2 NM_005529.6(HSPG2): c.5648C> T (p.Ala1883Val) single nucleotide variant Uncertain significance rs140954748 GRCh37 Chromosome 1, 22182333: 22182333
48 HSPG2 NM_005529.6(HSPG2): c.5648C> T (p.Ala1883Val) single nucleotide variant Uncertain significance rs140954748 GRCh38 Chromosome 1, 21855840: 21855840
49 HSPG2 NM_005529.6(HSPG2): c.8397T> G (p.Ser2799=) single nucleotide variant Uncertain significance rs186657949 GRCh37 Chromosome 1, 22172668: 22172668
50 HSPG2 NM_005529.6(HSPG2): c.8397T> G (p.Ser2799=) single nucleotide variant Uncertain significance rs186657949 GRCh38 Chromosome 1, 21846175: 21846175

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:

37
# 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 9.35 CD44 FURIN HSPG2 LIFR MME
2 secretory granule membrane GO:0030667 9.26 CD44 MME
3 Golgi lumen GO:0005796 9.16 FURIN HSPG2
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 extracellular matrix organization GO:0030198 9.13 CD44 FURIN HSPG2
2 extracellular matrix disassembly GO:0022617 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 9.43 FURIN MME MMEL1
2 metalloendopeptidase activity GO:0004222 9.32 MME MMEL1
3 endopeptidase activity GO:0004175 9.16 FURIN MME
4 peptide binding GO:0042277 8.96 FURIN MME
5 cytokine receptor activity GO:0004896 8.62 CD44 LIFR

Sources for Schwartz-Jampel Syndrome, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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