MCID: SCH068
MIFTS: 47

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 54 24 25 13
Schwartz-Jampel Syndrome 72 50 25 56 71 52 69
Schwartz-Jampel-Aberfeld Syndrome 12 50 25 56
Sjs1 50 25 56 71
Myotonic Myopathy, Dwarfism, Chondrodystrophy, Ocular and Facial Anomalies 12 50 56
Osteochondromuscular Dystrophy 12 50 56
Chondrodystrophic Myotonia 50 24 25
Burton Skeletal Dysplasia 12 50 56
Myotonic Chondrodystrophy 12 50 56
Catel-Hempel Syndrome 12 50 56
Aberfeld Syndrome 12 50 56
Burton Syndrome 12 50 56
Sjs 50 25 56
Dysostosis Enchondralis Metaepiphysaria, Catel-Hempel Type 50 56
Schwartz-Jampel Syndrome Type 1 12 56
Schwartz-Jampel Syndrome 1 12 14
Sja Syndrome 50 25
Myotonic Myopathy, Dwarfism, Chondrodystrophy, and Ocular and Facial Abnormalities 25
Myotonic Myopathy Dwarfism Chondrodystrophy and Ocular and Facial Abnormalities 50
Catel-Hempel Type Dysostosis Enchondralis Metaepiphysaria 12
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 69
Congenital Blepharophimosis, Myopia, Myopathy Syndrome 69
Schwartz Jampel Aberfeld Syndrome 50
Schwartz Jampel Syndrome Type 1 29
Schwartz Jampel Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
schwartz-jampel syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

54
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 : 50 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 hypersensitivity syndrome, carbamazepine-induced and stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome, and has symptoms including short stature, spinal rigidity and scoliosis. An important gene associated with Schwartz-Jampel Syndrome, Type 1 is HSPG2 (Heparan Sulfate Proteoglycan 2), and among its related pathways/superpathways are Degradation of the extracellular matrix and ECM-receptor interaction. 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 : 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.

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

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

(show all 16)
id Related Disease Score Top Affiliating Genes
1 hypersensitivity syndrome, carbamazepine-induced 11.6
2 stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome 11.2
3 stevens-johnson syndrome/toxic epidermal necrolysis 11.2
4 sjogren's syndrome 11.1
5 kniest-like dysplasia with pursed lips and ectopia lentis 10.8
6 myotonia 10.0
7 solar urticaria 9.7
8 obesity 9.7
9 erythema multiforme 9.7
10 keratoconjunctivitis sicca 9.7
11 urticaria 9.7
12 impotence 9.7
13 bardet-biedl syndrome 9.7
14 retinitis 9.7
15 keratoconjunctivitis 9.7
16 dysphagia 9.7

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:

54

Skeletal:
delayed bone age
osteoporosis

Neurologic- Central Nervous System:
hyporeflexia
mental retardation (25%)

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

Skeletal- Spine:
platyspondyly
kyphosis
kyphoscoliosis
lumbar lordosis
coronal cleft vertebrae

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

Skeletal- Feet:
talipes equinovarus
pes planus
toe contractures

Genitourinary- External Genitalia Male:
inguinal hernia

Skeletal- Skull:
small mandible

Skin Nails & Hair- Hair:
low hairline
generalized hirsutism

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

Voice:
small, high-pitched voice

Abdomen- External Features:
umbilical hernia

Head And Neck- Eyes:
myopia
ptosis
microcornea
cataract
narrow palpebral fissures
more
Skeletal- Pelvis:
coxa valga
coxa vara
congenital hip dislocation
flattened femoral epiphyses
hip contracture
more
Head And Neck- Mouth:
small mouth
pursed lips

Chest- Ribs Sternum Clavicles And Scapulae:
pectus carinatum

Head And Neck- Neck:
short neck

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

Genitourinary- Internal Genitalia Male:
small testes

Skeletal- Hands:
wrist contractures
finger contractures

Growth- Height:
short stature (postnatal onset)


Clinical features from OMIM:

255800

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

56 32 (show top 50) (show all 124)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 spinal rigidity 56 32 frequent (33%) Frequent (79-30%) HP:0003306
3 scoliosis 56 32 frequent (33%) Frequent (79-30%) HP:0002650
4 visual impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000505
5 blepharospasm 56 32 occasional (7.5%) Occasional (29-5%) HP:0000643
6 strabismus 56 32 frequent (33%) Frequent (79-30%) HP:0000486
7 umbilical hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001537
8 hyporeflexia 56 32 frequent (33%) Frequent (79-30%) HP:0001265
9 myopia 56 32 frequent (33%) Frequent (79-30%) HP:0000545
10 nephrolithiasis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000787
11 hypertonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001276
12 ptosis 56 32 frequent (33%) Frequent (79-30%) HP:0000508
13 microcephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000252
14 irritability 56 32 occasional (7.5%) Occasional (29-5%) HP:0000737
15 micrognathia 56 32 frequent (33%) Frequent (79-30%) HP:0000347
16 hypertelorism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000316
17 coxa valga 56 32 frequent (33%) Frequent (79-30%) HP:0002673
18 wormian bones 56 32 occasional (7.5%) Occasional (29-5%) HP:0002645
19 platyspondyly 56 32 frequent (33%) Frequent (79-30%) HP:0000926
20 kyphosis 56 32 frequent (33%) Frequent (79-30%) HP:0002808
21 cleft palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000175
22 polyhydramnios 56 32 occasional (7.5%) Occasional (29-5%) HP:0001561
23 arthrogryposis multiplex congenita 56 32 hallmark (90%) Very frequent (99-80%) HP:0002804
24 osteoporosis 56 32 frequent (33%) Frequent (79-30%) HP:0000939
25 muscle weakness 56 32 occasional (7.5%) Occasional (29-5%) HP:0001324
26 apnea 56 32 occasional (7.5%) Occasional (29-5%) HP:0002104
27 microcornea 56 32 occasional (7.5%) Occasional (29-5%) HP:0000482
28 pectus carinatum 56 32 frequent (33%) Frequent (79-30%) HP:0000768
29 elbow dislocation 56 32 occasional (7.5%) Occasional (29-5%) HP:0003042
30 genu valgum 56 32 hallmark (90%) Very frequent (99-80%) HP:0002857
31 talipes equinovarus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001762
32 short neck 56 32 frequent (33%) Frequent (79-30%) HP:0000470
33 low anterior hairline 56 32 occasional (7.5%) Occasional (29-5%) HP:0000294
34 inguinal hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000023
35 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
36 cataract 56 32 frequent (33%) Frequent (79-30%) HP:0000518
37 myopathy 56 32 frequent (33%) Frequent (79-30%) HP:0003198
38 long philtrum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000343
39 pectus excavatum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000767
40 full cheeks 56 32 hallmark (90%) Very frequent (99-80%) HP:0000293
41 myalgia 56 32 occasional (7.5%) Occasional (29-5%) HP:0003326
42 trismus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000211
43 arrhythmia 56 32 occasional (7.5%) Occasional (29-5%) HP:0011675
44 joint stiffness 56 32 hallmark (90%) Very frequent (99-80%) HP:0001387
45 respiratory insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0002093
46 coxa vara 56 32 frequent (33%) Frequent (79-30%) HP:0002812
47 flat face 56 32 frequent (33%) Frequent (79-30%) HP:0012368
48 low-set, posteriorly rotated ears 56 32 hallmark (90%) Very frequent (99-80%) HP:0000368
49 pes planus 56 32 hallmark (90%) Very frequent (99-80%) HP:0001763
50 high palate 56 32 frequent (33%) Frequent (79-30%) HP:0000218

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


muscle weakness

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

44
id 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 MME CD44 FURIN HSPG2
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:

id Genetic test Affiliating Genes
1 Schwartz Jampel Syndrome Type 1 29
2 Schwartz-Jampel Syndrome, Type 1 24 HSPG2

Anatomical Context for Schwartz-Jampel Syndrome, Type 1

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

39
Bone, Eye, Skeletal Muscle

Publications for Schwartz-Jampel Syndrome, Type 1

Variations for Schwartz-Jampel Syndrome, Type 1

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

71
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 HSPG2 HSPG2, IVS56DS, A-G, +4 single nucleotide variant Pathogenic
2 HSPG2 HSPG2, 9-BP DEL deletion Pathogenic
3 HSPG2 HSPG2, 7,108-BP DEL deletion Pathogenic
4 HSPG2 HSPG2, EX60/61 FUSION undetermined variant Pathogenic
5 HSPG2 HSPG2, 8544G-A single nucleotide variant 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

GO Terms for Schwartz-Jampel Syndrome, Type 1

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

id 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:

id 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:

id 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 8.32 CD44

Sources for Schwartz-Jampel Syndrome, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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