MCID: SCH068
MIFTS: 54

Schwartz-Jampel Syndrome, Type 1

Categories: Genetic diseases, Rare diseases, Bone diseases, Neuronal diseases, Eye 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 53 24 13
Schwartz-Jampel Syndrome 53 72 49 24 55 71 36 51 69
Schwartz-Jampel-Aberfeld Syndrome 53 12 49 24 55
Sjs1 53 49 24 55 71
Sjs 53 49 24 55
Myotonic Myopathy, Dwarfism, Chondrodystrophy, Ocular and Facial Anomalies 12 49 55
Osteochondromuscular Dystrophy 12 49 55
Chondrodystrophic Myotonia 53 49 24
Burton Skeletal Dysplasia 12 49 55
Myotonic Chondrodystrophy 12 49 55
Catel-Hempel Syndrome 12 49 55
Aberfeld Syndrome 12 49 55
Burton Syndrome 12 49 55
Sja Syndrome 53 49 24
Myotonic Myopathy, Dwarfism, Chondrodystrophy, and Ocular and Facial Abnormalities 53 24
Dysostosis Enchondralis Metaepiphysaria, Catel-Hempel Type 49 55
Schwartz-Jampel Syndrome Type 1 12 55
Schwartz-Jampel Syndrome 1 12 14
Myotonic Myopathy Dwarfism Chondrodystrophy and Ocular and Facial Abnormalities 49
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 69
Catel-Hempel Type Dysostosis Enchondralis Metaepiphysaria 12
Congenital Blepharophimosis, Myopia, Myopathy Syndrome 69
Schwartz Jampel Aberfeld Syndrome 49
Schwartz Jampel Syndrome Type 1 28
Schwartz-Jampel Syndrome; Sjs 53
Schwartz Jampel Syndrome 49

Characteristics:

Orphanet epidemiological data:

55
schwartz-jampel syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

53
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:

31
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 : 49 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.  Last updated: 7/20/2016

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 myalgia, cachexia and joint stiffness. 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 immune system and integument

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 : 24 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 : 71 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.

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:

53
Muscle Soft Tissue:
muscle weakness
myotonia
muscle wasting
muscular hypertrophy
emg - repetitive muscle discharges

Head And Neck Neck:
short neck

Skeletal Spine:
kyphosis
platyspondyly
kyphoscoliosis
coronal cleft vertebrae
lumbar lordosis

Chest RibsSternum 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 Ears:
low-set ears
overfolded helices

Head And Neck Eyes:
ptosis
cataract
myopia
blepharophimosis
microcornea
more
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

Genitourinary Internal Genitalia Male:
small testes

Growth Height:
short stature (postnatal onset)


Clinical features from OMIM:

255800

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

55 31 (show top 50) (show all 123)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myalgia 55 31 occasional (7.5%) Occasional (29-5%) HP:0003326
2 cachexia 55 31 occasional (7.5%) Occasional (29-5%) HP:0004326
3 joint stiffness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001387
4 muscle weakness 55 31 occasional (7.5%) Occasional (29-5%) HP:0001324
5 hypertelorism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000316
6 short neck 55 31 frequent (33%) Frequent (79-30%) HP:0000470
7 pectus excavatum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000767
8 genu valgum 55 31 hallmark (90%) Very frequent (99-80%) HP:0002857
9 abnormality of epiphysis morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0005930
10 high palate 55 31 frequent (33%) Frequent (79-30%) HP:0000218
11 ptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000508
12 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
13 gait disturbance 55 31 hallmark (90%) Very frequent (99-80%) HP:0001288
14 dysphonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001618
15 respiratory insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0002093
16 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
17 kyphosis 55 31 frequent (33%) Frequent (79-30%) HP:0002808
18 hyperlordosis 55 31 frequent (33%) Frequent (79-30%) HP:0003307
19 inguinal hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000023
20 cataract 55 31 frequent (33%) Frequent (79-30%) HP:0000518
21 dental malocclusion 55 31 occasional (7.5%) Occasional (29-5%) HP:0000689
22 hip dysplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001385
23 skeletal dysplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002652
24 delayed skeletal maturation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002750
25 pectus carinatum 55 31 frequent (33%) Frequent (79-30%) HP:0000768
26 umbilical hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001537
27 pes planus 55 31 hallmark (90%) Very frequent (99-80%) HP:0001763
28 microcephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000252
29 visual impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000505
30 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
31 hypertonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001276
32 feeding difficulties in infancy 55 31 occasional (7.5%) Occasional (29-5%) HP:0008872
33 myopathy 55 31 frequent (33%) Frequent (79-30%) HP:0003198
34 osteoporosis 55 31 frequent (33%) Frequent (79-30%) HP:0000939
35 laryngomalacia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001601
36 elevated serum creatine phosphokinase 55 31 hallmark (90%) Very frequent (99-80%) HP:0003236
37 emg abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0003457
38 arrhythmia 55 31 occasional (7.5%) Occasional (29-5%) HP:0011675
39 full cheeks 55 31 hallmark (90%) Very frequent (99-80%) HP:0000293
40 myotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002486
41 skeletal muscle atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0003202
42 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
43 long philtrum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000343
44 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
45 pulmonary arterial hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0002092
46 irritability 55 31 occasional (7.5%) Occasional (29-5%) HP:0000737
47 abnormality of the metaphysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000944
48 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
49 platyspondyly 55 31 frequent (33%) Frequent (79-30%) HP:0000926
50 coxa valga 55 31 frequent (33%) Frequent (79-30%) HP:0002673

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


muscle weakness

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.65 CD44 FURIN HSPG2 LIFR MME
2 integument MP:0010771 9.46 CD44 FURIN HSPG2 MME
3 limbs/digits/tail MP:0005371 9.26 CD44 FURIN HSPG2 LIFR
4 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 28 HSPG2

Anatomical Context for Schwartz-Jampel Syndrome, Type 1

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

38
Bone, Eye, Skeletal Muscle, Testes

Publications for Schwartz-Jampel Syndrome, Type 1

Articles related to Schwartz-Jampel Syndrome, Type 1:

(show all 38)
# Title Authors Year
1
Botulinum toxin type A in the treatment of facial myotonia in Schwartz-Jampel syndrome. ( 28187499 )
2017
2
Orbicularis Oculi Myectomy as a Treatment for Blepharospasm in a Case of Schwartz Jampel Syndrome. ( 27621795 )
2016
3
Treatment of Blepharospasm in Schwartz-Jampel Syndrome: Botulinum Toxin A Injection or Surgery. ( 26020714 )
2015
4
A missense mutation in domain III in HSPG2 in Schwartz-Jampel syndrome compromises secretion of perlecan into the extracellular space. ( 26031903 )
2015
5
Schwartz Jampel syndrome in children. ( 23219824 )
2013
6
Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome. ( 24011702 )
2013
7
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
8
Windswept deformity in a patient with Schwartz-Jampel syndrome. ( 22430668 )
2012
9
Schwartz-Jampel syndrome: a review of the literature and case report. ( 22591433 )
2012
10
Schwartz-Jampel syndrome. ( 22610743 )
2010
11
A case of Schwartz-Jampel syndrome with cleft palate. ( 19733405 )
2009
12
Electrophysiological studies in a mouse model of Schwartz-Jampel syndrome demonstrate muscle fiber hyperactivity of peripheral nerve origin. ( 19367640 )
2009
13
Botulinum toxin A injections for the treatment of Schwartz-Jampel syndrome: a case series. ( 19168812 )
2009
14
Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia. ( 18647752 )
2008
15
Reduced perlecan in mice results in chondrodysplasia resembling Schwartz-Jampel syndrome. ( 17213231 )
2007
16
Results of botulinum toxin: an application to blepharospasm Schwartz-Jampel syndrome. ( 16877909 )
2006
17
Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome. ( 16927315 )
2006
18
Schwartz-Jampel syndrome: surgical management of the myotonia-induced blepharospasm and acquired ptosis after failure with botulinum toxin A injections. ( 16418670 )
2006
19
Crying or smiling? The Schwartz-Jampel syndrome. ( 16737891 )
2006
20
Dental findings and muscular-skeletal features in Schwartz-Jampel syndrome: case report of two affected siblings. ( 17249445 )
2006
21
The effect of the Schwartz-Jampel syndrome on masticatory and facial musculatures--an electromyographic analysis. ( 15981691 )
2005
22
Schwartz-Jampel syndrome and perlecan deficiency. ( 16550923 )
2005
23
Schwartz-Jampel syndrome. ( 15064520 )
2004
24
Schwartz-Jampel syndrome: three pediatric case reports. ( 14577682 )
2003
25
Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report. ( 12839625 )
2003
26
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. ( 11941538 )
2002
27
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia). ( 11101850 )
2000
28
Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease. ( 11038441 )
2000
29
Schwartz-Jampel syndrome type 2 and StA1ve-Wiedemann syndrome: a case for "lumping". ( 9674906 )
1998
30
Congenital bowing of the long bones in two fetuses presenting features of StA1ve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2. ( 9823491 )
1998
31
Clinical homogeneity of the StA1ve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2. ( 9674905 )
1998
32
Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping. ( 8541852 )
1995
33
Schwartz-Jampel syndrome (chondrodystrophic myotonia). ( 1552548 )
1992
34
Modification in the expression and localization of contractile and cytoskeletal proteins in Schwartz-Jampel syndrome. ( 1919599 )
1991
35
Chondrodystrophic myotonia (Schwartz-Jampel syndrome) in South African children. ( 2290482 )
1990
36
Schwartz-Jampel syndrome: II. Na+ channel defect causes myotonia. ( 2164152 )
1990
37
Chondrodystrophic myotonia (Schwartz-Jampel syndrome): report of a new case and follow-up of patients initially reported in 1969. ( 7137221 )
1982
38
Chondrodystrophic myotonia versus Schwartz-Jampel Syndrome. ( 426490 )
1979

Variations for Schwartz-Jampel Syndrome, Type 1

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

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 HSPG2 HSPG2, IVS56DS, A-G, +4 single nucleotide variant Pathogenic
2 HSPG2 HSPG2, EX60/61 FUSION undetermined variant Pathogenic
3 HSPG2 HSPG2, 8544G-A single nucleotide variant Pathogenic
4 HSPG2 HSPG2, 9-BP DEL deletion Pathogenic
5 HSPG2 HSPG2, 7,108-BP DEL deletion Pathogenic
6 HSPG2 HSPG2, IVS64DS, A-G, +4 single nucleotide variant Pathogenic
7 HSPG2 NM_005529.6(HSPG2): c.4595G> A (p.Cys1532Tyr) single nucleotide variant Pathogenic rs137853248 GRCh37 Chromosome 1, 22191367: 22191367
8 HSPG2 NM_005529.6(HSPG2): c.4740+5G> A single nucleotide variant Likely pathogenic rs886039909 GRCh37 Chromosome 1, 22190588: 22190588
9 HSPG2 NM_005529.6(HSPG2): c.10894C> T (p.Arg3632Ter) single nucleotide variant Pathogenic rs762281715 GRCh37 Chromosome 1, 22160044: 22160044

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:

36
# 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 Golgi lumen GO:0005796 9.26 FURIN HSPG2
3 secretory granule membrane GO:0030667 9.16 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 organization GO:0030198 9.13 CD44 FURIN HSPG2
3 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

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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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42 MESH via Orphanet
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54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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