SJS1
MCID: SCH068
MIFTS: 52

Schwartz-Jampel Syndrome, Type 1 (SJS1)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle 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 57 43 13
Schwartz-Jampel Syndrome 57 73 20 43 58 72 36 29 54 6 70
Schwartz-Jampel-Aberfeld Syndrome 57 12 20 43 58
Sjs1 57 20 43 58 72
Sjs 57 20 43 58
Myotonic Myopathy, Dwarfism, Chondrodystrophy, Ocular and Facial Anomalies 12 20 58
Osteochondromuscular Dystrophy 12 20 58
Chondrodystrophic Myotonia 57 20 43
Burton Skeletal Dysplasia 12 20 58
Myotonic Chondrodystrophy 12 20 58
Catel-Hempel Syndrome 12 20 58
Aberfeld Syndrome 12 20 58
Burton Syndrome 12 20 58
Sja Syndrome 57 20 43
Myotonic Myopathy, Dwarfism, Chondrodystrophy, and Ocular and Facial Abnormalities 57 43
Dysostosis Enchondralis Metaepiphysaria, Catel-Hempel Type 20 58
Schwartz-Jampel Syndrome Type 1 12 58
Schwartz-Jampel Syndrome 1 12 15
Myotonic Myopathy Dwarfism Chondrodystrophy and Ocular and Facial Abnormalities 20
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 70
Catel-Hempel Type Dysostosis Enchondralis Metaepiphysaria 12
Congenital Blepharophimosis, Myopia, Myopathy Syndrome 70
Schwartz Jampel Aberfeld Syndrome 20
Syndrome, Schwartz-Jampel, Type 1 39
Schwartz-Jampel Syndrome; Sjs 57
Schwartz Jampel Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
schwartz-jampel syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
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:
Onset and clinical course death in infancy
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Schwartz-Jampel Syndrome, Type 1

MedlinePlus Genetics : 43 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.Myotonia involves continuous tensing (contraction) of muscles used for movement (skeletal muscles) throughout the body. This sustained muscle contraction causes stiffness that interferes with eating, sitting, walking, and other movements. Sustained contraction of muscles in the face leads to a fixed, "mask-like" facial expression with narrow eye openings (blepharophimosis) and pursed lips. This facial appearance is very specific to Schwartz-Jampel syndrome. Affected individuals may also be nearsighted and experience abnormal blinking or spasms of the eyelids (blepharospasm).Chondrodysplasia affects the development of the skeleton, particularly the long bones in the arms and legs and the bones of the hips. These bones are shortened and unusually wide at the ends, so affected individuals have short stature. The long bones may also be abnormally curved (bowed). Other bone abnormalities associated with Schwartz-Jampel syndrome include a protruding chest (pectus carinatum), abnormal curvature of the spine, flattened bones of the spine (platyspondyly), and joint abnormalities called contractures that further restrict movement.Researchers originally described two types of Schwartz-Jampel syndrome. Type 1 has the signs and symptoms described above, while type 2 has more severe bone abnormalities and other health problems and is usually life-threatening in early infancy. Researchers have since discovered that the condition they thought was Schwartz-Jampel syndrome type 2 is actually part of another disorder, Stüve-Wiedemann syndrome, which is caused by mutations in a different gene. They have recommended that the designation Schwartz-Jampel syndrome type 2 no longer be used.

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 E2F transcription factor network. Affiliated tissues include bone, eye and skeletal muscle, and related phenotypes are intellectual disability and gait disturbance

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

GARD : 20 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.

KEGG : 36 Schwartz-Jampel syndrome (SJS) is a rare hereditary disorder with joint contractures, generalized myotonia, skeletal anomalies, and facial dysmorphism. Schwartz-Jampel syndrome (SJS) is a term now applied to 2 different autosomal recessive disorder, sometimes termed SJS type 1 and SJS type 2. SJS type 1 results from mutations in the HSPG2 gene, which encodes perlecan, a major component of basement membranes. It exhibits muscle stiffness, mild muscle weakness, and a number of minor morphological abnormalities. In affected patients, problems with motor development frequently become evident during the first year of life. SJS type 2, also known as Stuve-Wiedemann syndrome [DS:H00462], is a genetically distinct disorder with a more severe phenotype.

UniProtKB/Swiss-Prot : 72 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 : 73 Schwartz-Jampel syndrome (SJS) is a rare genetic disease caused by a mutation in the perlecan gene... more...

More information 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 94)
# Related Disease Score Top Affiliating Genes
1 stevens-johnson syndrome/toxic epidermal necrolysis 11.7
2 severe cutaneous adverse reaction 11.6
3 stuve-wiedemann syndrome 11.4
4 kyphomelic dysplasia 11.3
5 kniest-like dysplasia with pursed lips and ectopia lentis 11.2
6 erythema multiforme 11.1
7 stevens-johnson syndrome/toxic epidermal necrolysis overlap syndrome 10.9
8 sjogren syndrome 10.9
9 swyer-james syndrome 10.9
10 blepharophimosis 10.7
11 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 10.7
12 erythema multiforme major 10.7
13 blepharospasm 10.7
14 malignant hyperthermia 10.6
15 muscle hypertrophy 10.4
16 ptosis 10.4
17 cleft palate, isolated 10.4
18 sleep apnea 10.4
19 myopathy 10.4
20 dwarfism 10.4
21 pectus carinatum 10.4
22 odontochondrodysplasia 10.3
23 dyssegmental dysplasia, silverman-handmaker type 10.3
24 immunoglobulin alpha deficiency 10.3
25 autosomal recessive disease 10.2
26 myotonia 10.2
27 hypereosinophilic syndrome 10.2
28 exanthem 10.2
29 carpal tunnel syndrome 10.1
30 coxa vara 10.1
31 hypertelorism 10.1
32 hypokalemic periodic paralysis, type 1 10.1
33 kearns-sayre syndrome 10.1
34 myasthenic syndrome, congenital, 5 10.1
35 pain agnosia 10.1
36 inguinal hernia 10.1
37 metaphyseal dysplasia 10.1
38 osteonecrosis 10.1
39 microcephaly 10.1
40 von willebrand's disease 10.1
41 myotonia congenita 10.1
42 hypertrichosis 10.1
43 muscular atrophy 10.1
44 muscular dystrophy 10.1
45 hydrocele 10.1
46 congenital contractures 10.1
47 wallerian degeneration 10.1
48 hypotonia 10.1
49 orofacial clefting syndrome 10.1
50 periodic paralysis 10.1

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

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

58 31 (show top 50) (show all 124)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
3 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
4 hip dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001385
5 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
6 pes planus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001763
7 visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000505
8 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
9 hypertonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001276
10 full cheeks 58 31 hallmark (90%) Very frequent (99-80%) HP:0000293
11 myotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002486
12 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
13 genu valgum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002857
14 everted lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000232
15 elevated serum creatine kinase 58 31 hallmark (90%) Very frequent (99-80%) HP:0003236
16 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
17 narrow mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000160
18 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
19 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
20 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
21 pursed lips 58 31 hallmark (90%) Very frequent (99-80%) HP:0000205
22 trismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000211
23 arthrogryposis multiplex congenita 58 31 hallmark (90%) Very frequent (99-80%) HP:0002804
24 metatarsus valgus 58 31 hallmark (90%) Very frequent (99-80%) HP:0010508
25 elevated aldolase level 58 31 hallmark (90%) Very frequent (99-80%) HP:0012544
26 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
27 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
28 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
29 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
30 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
31 hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0003307
32 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
33 pectus carinatum 58 31 frequent (33%) Frequent (79-30%) HP:0000768
34 myopathy 58 31 frequent (33%) Frequent (79-30%) HP:0003198
35 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
36 flat face 58 31 frequent (33%) Frequent (79-30%) HP:0012368
37 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
38 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
39 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
40 mask-like facies 58 31 frequent (33%) Frequent (79-30%) HP:0000298
41 spinal rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0003306
42 overfolded helix 58 31 frequent (33%) Frequent (79-30%) HP:0000396
43 platyspondyly 58 31 frequent (33%) Frequent (79-30%) HP:0000926
44 prominent nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000426
45 abnormality of the pharynx 58 31 frequent (33%) Frequent (79-30%) HP:0000600
46 blepharophimosis 58 31 frequent (33%) Frequent (79-30%) HP:0000581
47 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
48 high pitched voice 58 31 frequent (33%) Frequent (79-30%) HP:0001620
49 skeletal muscle hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003712
50 wrist flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0001239

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
ptosis
cataract
myopia
blepharophimosis
microcornea
more
Head And Neck Neck:
short neck

Genitourinary External Genitalia Male:
inguinal hernia

Abdomen External Features:
umbilical hernia

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

Head And Neck Ears:
low-set ears
overfolded helices

Skin Nails Hair Hair:
generalized hirsutism
low hairline

Head And Neck Mouth:
pursed lips
small mouth

Skeletal Skull:
small mandible

Genitourinary Internal Genitalia Male:
small testes

Voice:
small, high-pitched voice

Skeletal Spine:
kyphosis
kyphoscoliosis
platyspondyly
coronal cleft vertebrae
lumbar lordosis

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

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum

Skeletal Feet:
pes planus
talipes equinovarus
toe contractures

Skeletal:
osteoporosis
delayed bone age

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

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

Skeletal Hands:
wrist contractures
finger contractures

Growth Height:
short stature (postnatal onset)

Clinical features from OMIM®:

255800 (Updated 05-Apr-2021)

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


muscle weakness

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 29

Anatomical Context for Schwartz-Jampel Syndrome, Type 1

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

40
Bone, Eye, Skeletal Muscle, Testes

Publications for Schwartz-Jampel Syndrome, Type 1

Articles related to Schwartz-Jampel Syndrome, Type 1:

(show top 50) (show all 182)
# Title Authors PMID Year
1
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. 57 6 54 61
11941538 2002
2
Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease. 6 57 54 61
11038441 2000
3
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia). 6 57 61
11101850 2000
4
Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome. 57 54 61
16927315 2006
5
Reduced perlecan in mice results in chondrodysplasia resembling Schwartz-Jampel syndrome. 6 61
17213231 2007
6
Oro-dental manifestations of the Schwartz-Jampel syndrome. 57 61
12413175 2002
7
Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia. 61 57
9083764 1997
8
Identical twins with the classical form of Schwartz-Jampel syndrome. 57 61
9018418 1997
9
Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping. 57 61
8541852 1995
10
Schwartz-Jampel syndrome (chondrodystrophic myotonia). 61 57
1552548 1992
11
Schwartz-Jampel syndrome with dominant inheritance. 57 61
1745290 1991
12
Schwartz-Jampel syndrome with dominant inheritance. 57 61
2266988 1990
13
Chondrodystrophic myotonia (Schwartz-Jampel syndrome) in South African children. 57 61
2290482 1990
14
Bilateral carpal tunnel in childhood associated with Schwartz-Jampel syndrome. 61 57
6700632 1984
15
Chondrodystrophic myotonia (Schwartz-Jampel syndrome): report of a new case and follow-up of patients initially reported in 1969. 57 61
7137221 1982
16
Schwartz-Jampel syndrome with autosomal-dominant inheritance. 61 57
7117301 1982
17
Chondrodystrophic myotonia versus Schwartz-Jampel Syndrome. 61 57
426490 1979
18
Schwartz-Jampel syndrome in two daughters of first cousins. 61 57
632822 1978
19
Schwartz-Jampel syndrome. Clinical, electrophysiological and histopathological study of a severe variant. 57 61
632828 1978
20
The Schwartz-Jampel syndrome. Its clinical, physiological and histological expressions. 57 61
4830552 1974
21
Myotonia, shortness of stature, and hip dysplasia. Schwartz-Jampel syndrome. 57 61
5773418 1969
22
Chondrodystrophic myotonia: electromyographic and cardiac features of a case. 57
525255 1979
23
Chondrodystrophic myotonia. A report of two unrelated Dutch patients. 57
4406232 1974
24
The schwartz syndrome in southern africa. 57
4787843 1973
25
Chondrodystrophic myotonia: report of two cases. Myotonia, dwarfism, diffuse bone disease, and unusual ocular and facial abnormalities. 57
5435668 1970
26
Osteo-chondro-muscular dystrophy. A disorder manifested by multiple skeletal deformities, myotonia, and dystrophic changes in muscle. 57
5365059 1969
27
Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities (a new syndrome). 57
4953364 1965
28
Congenital blepharophimosis associated with a unique generalized myopathy. 57
13909723 1962
29
Knockdown of hspg2 is associated with abnormal mandibular joint formation and neural crest cell dysfunction in zebrafish. 61
33678174 2021
30
Successful treatment of a child with Schwartz-Jampel syndrome using rapid maxillary expansion and CPAP. 61
33231165 2021
31
Management of blepharospasm and blepharophimosis associated with Schwartz-Jampel syndrome. 61
33601038 2021
32
Secreted Signaling Molecules at the Neuromuscular Junction in Physiology and Pathology. 61
33671084 2021
33
A Novel Pathogenic HSPG2 Mutation in Schwartz-Jampel Syndrome. 61
33767660 2021
34
Oral findings and craniofacial morphology in a patient with Schwartz-Jampel syndrome and severe obstructive sleep apnea: A case report. 61
33363777 2020
35
Schwartz Jampel Syndrome (SJS)-One in a Million Syndrome. 61
32738848 2020
36
Spinal anesthesia in a patient with Schwartz-Jampel syndrome. 61
32648012 2020
37
Perlecan Knockdown Significantly Alters Extracellular Matrix Composition and Organization During Cartilage Development. 61
33451410 2020
38
Perlecan Knockdown Significantly Alters Extracellular Matrix Composition and Organization During Cartilage Development. 61
32381549 2020
39
Perlecan/Hspg2 deficiency impairs bone's calcium signaling and associated transcriptome in response to mechanical loading. 61
31715337 2020
40
Trabecular Bone Deficit and Enhanced Anabolic Response to Re-Ambulation after Disuse in Perlecan-Deficient Skeleton. 61
32013135 2020
41
Schwartz-Jampel Syndrome Mimicking Myotonia Congenita. 61
31512670 2019
42
Comment on "Schwartz-Jampel syndrome: Is risk of malignant hyperthermia the same as that of the general population?" 61
31007664 2019
43
Schwartz Jampel syndrome responding positively to carbamazepine therapy: a case report and a novel mutation. 61
32134596 2019
44
Perlecan/HSPG2: Signaling role of domain IV in chondrocyte clustering with implications for Schwartz-Jampel Syndrome. 61
30203597 2018
45
Stiffness, Facial Dysmorphism, and Skeletal Abnormalities: Schwartz-Jampel Syndrome 1A. 61
29866592 2018
46
Novel HSPG2 mutations causing Schwartz‑Jampel syndrome type 1 in a Chinese family: A case report. 61
29901129 2018
47
Schwartz-Jampel syndrome: Is risk of malignant hyperthermia the same as that of the general population? 61
30100861 2018
48
Orthodontic management of a patient with Schwartz-Jampel Syndrome. 61
29805434 2018
49
A successful anesthetic approach in a patient with Schwartz-Jampel syndrome. 61
29416471 2018
50
Long-term follow-up of a Schwartz-Jampel syndrome case. 61
30448822 2018

Variations for Schwartz-Jampel Syndrome, Type 1

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

6 (show top 50) (show all 494)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HSPG2 NM_005529.7(HSPG2):c.8464+4A>G SNV Pathogenic 14917 rs1572204991 GRCh37: 1:22172597-22172597
GRCh38: 1:21846104-21846104
2 HSPG2 NM_005529.7(HSPG2):c.4595G>A (p.Cys1532Tyr) SNV Pathogenic 14918 rs137853248 GRCh37: 1:22191367-22191367
GRCh38: 1:21864874-21864874
3 HSPG2 NM_005529.7(HSPG2):c.7294+4A>G SNV Pathogenic 14922 rs1572220282 GRCh37: 1:22176852-22176852
GRCh38: 1:21850359-21850359
4 HSPG2 HSPG2, EX60/61 FUSION Variation Pathogenic 14923 GRCh37:
GRCh38:
5 HSPG2 HSPG2, 8544G-A SNV Pathogenic 14924 GRCh37:
GRCh38:
6 HSPG2 HSPG2, 9-BP DEL Deletion Pathogenic 14925 GRCh37:
GRCh38:
7 HSPG2 HSPG2, 7,108-BP DEL Deletion Pathogenic 14926 GRCh37:
GRCh38:
8 HSPG2 NM_005529.7(HSPG2):c.4145_4163del (p.Leu1382fs) Deletion Pathogenic 801456 rs1572304438 GRCh37: 1:22198737-22198755
GRCh38: 1:21872244-21872262
9 HSPG2 NM_005529.7(HSPG2):c.8316+1G>A SNV Pathogenic 800538 rs927473035 GRCh37: 1:22172940-22172940
GRCh38: 1:21846447-21846447
10 HSPG2 NM_005529.7(HSPG2):c.9958T>C (p.Cys3320Arg) SNV Likely pathogenic 1029973 GRCh37: 1:22165510-22165510
GRCh38: 1:21839017-21839017
11 HSPG2 NM_005529.7(HSPG2):c.1125C>G (p.Cys375Trp) SNV Likely pathogenic 972726 GRCh37: 1:22211898-22211898
GRCh38: 1:21885405-21885405
12 HSPG2 NM_005529.7(HSPG2):c.11208-7G>A SNV Likely pathogenic 499769 rs1336552092 GRCh37: 1:22158296-22158296
GRCh38: 1:21831803-21831803
13 HSPG2 NM_005529.7(HSPG2):c.9970G>A (p.Gly3324Arg) SNV Likely pathogenic 982057 GRCh37: 1:22165498-22165498
GRCh38: 1:21839005-21839005
14 HSPG2 NM_005529.7(HSPG2):c.1654+5G>A SNV Likely pathogenic 801457 rs1572356343 GRCh37: 1:22211016-22211016
GRCh38: 1:21884523-21884523
15 HSPG2 NM_005529.7(HSPG2):c.4740+5G>A SNV Likely pathogenic 266114 rs886039909 GRCh37: 1:22190588-22190588
GRCh38: 1:21864095-21864095
16 HSPG2 NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser) SNV Conflicting interpretations of pathogenicity 209161 rs143736974 GRCh37: 1:22205601-22205601
GRCh38: 1:21879108-21879108
17 HSPG2 NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) SNV Conflicting interpretations of pathogenicity 197080 rs142433309 GRCh37: 1:22188289-22188289
GRCh38: 1:21861796-21861796
18 HSPG2 NM_005529.7(HSPG2):c.6808G>A (p.Gly2270Arg) SNV Uncertain significance 295806 rs145091234 GRCh37: 1:22178643-22178643
GRCh38: 1:21852150-21852150
19 HSPG2 NM_005529.7(HSPG2):c.9476G>A (p.Arg3159Gln) SNV Uncertain significance 295759 rs140573963 GRCh37: 1:22167631-22167631
GRCh38: 1:21841138-21841138
20 HSPG2 NM_005529.7(HSPG2):c.12195G>A (p.Pro4065=) SNV Uncertain significance 596005 rs573932867 GRCh37: 1:22155370-22155370
GRCh38: 1:21828877-21828877
21 HSPG2 NM_005529.7(HSPG2):c.10609G>A (p.Gly3537Arg) SNV Uncertain significance 876711 GRCh37: 1:22161283-22161283
GRCh38: 1:21834790-21834790
22 HSPG2 NM_005529.7(HSPG2):c.2335C>T (p.His779Tyr) SNV Uncertain significance 295880 rs149094407 GRCh37: 1:22206608-22206608
GRCh38: 1:21880115-21880115
23 HSPG2 NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His) SNV Uncertain significance 295756 rs149644947 GRCh37: 1:22166460-22166460
GRCh38: 1:21839967-21839967
24 HSPG2 NM_005529.7(HSPG2):c.12520C>T (p.Arg4174Cys) SNV Uncertain significance 585982 rs199899258 GRCh37: 1:22154535-22154535
GRCh38: 1:21828042-21828042
25 HSPG2 NM_005529.7(HSPG2):c.6520G>A (p.Val2174Met) SNV Uncertain significance 1029969 GRCh37: 1:22179483-22179483
GRCh38: 1:21852990-21852990
26 HSPG2 NM_005529.7(HSPG2):c.6545A>C (p.Gln2182Pro) SNV Uncertain significance 1029970 GRCh37: 1:22179458-22179458
GRCh38: 1:21852965-21852965
27 HSPG2 NM_005529.7(HSPG2):c.931G>C (p.Glu311Gln) SNV Uncertain significance 447567 rs200992640 GRCh37: 1:22213940-22213940
GRCh38: 1:21887447-21887447
28 HSPG2 NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val) SNV Uncertain significance 284377 rs140954748 GRCh37: 1:22182333-22182333
GRCh38: 1:21855840-21855840
29 HSPG2 NM_005529.7(HSPG2):c.6010C>T (p.Arg2004Cys) SNV Uncertain significance 295819 rs777591903 GRCh37: 1:22181464-22181464
GRCh38: 1:21854971-21854971
30 HSPG2 NM_005529.7(HSPG2):c.6002G>A (p.Arg2001Gln) SNV Uncertain significance 235528 rs368627489 GRCh37: 1:22181472-22181472
GRCh38: 1:21854979-21854979
31 HSPG2 NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn) SNV Uncertain significance 290055 rs146309392 GRCh37: 1:22176915-22176915
GRCh38: 1:21850422-21850422
32 HSPG2 NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn) SNV Uncertain significance 290055 rs146309392 GRCh37: 1:22176915-22176915
GRCh38: 1:21850422-21850422
33 HSPG2 NM_005529.7(HSPG2):c.10365C>T (p.Asn3455=) SNV Uncertain significance 295736 rs189103460 GRCh37: 1:22162121-22162121
GRCh38: 1:21835628-21835628
34 HSPG2 NM_005529.7(HSPG2):c.9770G>A (p.Arg3257Gln) SNV Uncertain significance 295752 rs202018841 GRCh37: 1:22165983-22165983
GRCh38: 1:21839490-21839490
35 HSPG2 , LDLRAD2 NM_005529.7(HSPG2):c.12886G>C (p.Val4296Leu) SNV Uncertain significance 295702 rs144217842 GRCh37: 1:22150627-22150627
GRCh38: 1:21824134-21824134
36 HSPG2 NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val) SNV Uncertain significance 284377 rs140954748 GRCh37: 1:22182333-22182333
GRCh38: 1:21855840-21855840
37 HSPG2 , LDLRAD2 NM_005529.7(HSPG2):c.13033G>A (p.Gly4345Arg) SNV Uncertain significance 447542 rs148788926 GRCh37: 1:22149952-22149952
GRCh38: 1:21823459-21823459
38 HSPG2 NM_005529.7(HSPG2):c.11001G>A (p.Thr3667=) SNV Uncertain significance 806081 rs147966644 GRCh37: 1:22159855-22159855
GRCh38: 1:21833362-21833362
39 HSPG2 NM_005529.7(HSPG2):c.9604G>A (p.Val3202Met) SNV Uncertain significance 874934 GRCh37: 1:22166420-22166420
GRCh38: 1:21839927-21839927
40 HSPG2 NM_005529.7(HSPG2):c.3196C>T (p.Arg1066Trp) SNV Uncertain significance 875670 GRCh37: 1:22202228-22202228
GRCh38: 1:21875735-21875735
41 HSPG2 NM_005529.7(HSPG2):c.5483G>T (p.Arg1828Leu) SNV Uncertain significance 295831 rs745892835 GRCh37: 1:22183600-22183600
GRCh38: 1:21857107-21857107
42 HSPG2 NM_005529.7(HSPG2):c.6927C>T (p.Tyr2309=) SNV Uncertain significance 295804 rs552716935 GRCh37: 1:22178363-22178363
GRCh38: 1:21851870-21851870
43 HSPG2 NM_005529.7(HSPG2):c.11568C>T (p.Gly3856=) SNV Uncertain significance 295717 rs200221194 GRCh37: 1:22157578-22157578
GRCh38: 1:21831085-21831085
44 HSPG2 NM_005529.7(HSPG2):c.8605G>C (p.Ala2869Pro) SNV Uncertain significance 284843 rs139838884 GRCh37: 1:22170652-22170652
GRCh38: 1:21844159-21844159
45 HSPG2 NM_005529.7(HSPG2):c.7826G>A (p.Arg2609Gln) SNV Uncertain significance 284844 rs147286334 GRCh37: 1:22174498-22174498
GRCh38: 1:21848005-21848005
46 HSPG2 NM_005529.7(HSPG2):c.12072C>T (p.Asp4024=) SNV Uncertain significance 295709 rs146167897 GRCh37: 1:22155493-22155493
GRCh38: 1:21829000-21829000
47 HSPG2 NM_005529.7(HSPG2):c.833G>T (p.Gly278Val) SNV Uncertain significance 874995 GRCh37: 1:22214038-22214038
GRCh38: 1:21887545-21887545
48 HSPG2 NM_005529.7(HSPG2):c.8616+9G>C SNV Uncertain significance 750969 rs189754659 GRCh37: 1:22170632-22170632
GRCh38: 1:21844139-21844139
49 HSPG2 NM_005529.7(HSPG2):c.2633G>A (p.Arg878His) SNV Uncertain significance 875716 GRCh37: 1:22204731-22204731
GRCh38: 1:21878238-21878238
50 HSPG2 NM_005529.7(HSPG2):c.12110G>T (p.Arg4037Leu) SNV Uncertain significance 876568 GRCh37: 1:22155455-22155455
GRCh38: 1:21828962-21828962

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

72
# Symbol AA change Variation ID SNP ID
1 HSPG2 p.Cys1532Tyr VAR_014122 rs137853248

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

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

# Super pathways Score Top Affiliating Genes
1 10.82 CES5A CES4A
2
Show member pathways
10.36 CES5A CES4A

GO Terms for Schwartz-Jampel Syndrome, Type 1

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

# Name GO ID Score Top Affiliating Genes
1 carboxylic ester hydrolase activity GO:0052689 9.16 CES5A CES4A
2 triglyceride lipase activity GO:0004806 8.96 CES5A CES4A
3 sterol esterase activity GO:0004771 8.62 CES5A CES4A

Sources for Schwartz-Jampel Syndrome, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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