Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

JDSCD MCID: MLT162 MIFTS: 42	Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects (JDSCD) Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Multiple Joint Dislocations, Short Stature, and Craniofacial...

MalaCards integrated aliases for Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:

Name: Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects ⁵⁶ ⁷³

Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects ³⁶ ²⁹ ¹³ ⁶

Jdscd ⁵⁶ ⁷³

Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, with or Without Congenital Heart Defects ⁵⁶

Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism Without Congenital Heart Defects ⁶

Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with Congenital Heart Defects ⁶

Multiple Joint Dislocations-Short Stature-Craniofacial Dysmorphism-Congenital Heart Defects Syndrome ⁵⁸

Joint Dislocations, Multiple, Short Stature, Craniofacial Dysmorphism, Congenital Heart Defects ³⁹

Larsen Syndrome, Autosomal Recessive, Formerly ⁵⁶

Autosomal Recessive Larsen Syndrome ⁷³

Larsen-Like Syndrome, B3gat3 Type ⁵⁸

Larsen-Like Syndrome B3gat3 Type ⁷³

Larsen Syndrome, Recessive Type ⁷¹

Larsen-Like Syndrome ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

larsen-like syndrome, b3gat3 type
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

⁵⁶

Inheritance:
autosomal recessive

HPO:

³¹

multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Fetal diseases Rare diseases
Anatomical: Cardiovascular diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other congenital malformations of limb(s)

Other specified congenital malformations of limb(s)

Orphanet: ⁵⁸

Rare cardiac malformations

Rare bone diseases

Inborn errors of metabolism

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁶ 245600

KEGG ³⁶ H01498

MeSH ⁴³ D000015 D004204

ICD10 via Orphanet ³³ Q74.8

Orphanet ⁵⁸ ORPHA284139

MedGen ⁴¹ C1855536 C3278404

SNOMED-CT via HPO ⁶⁸ 111266001 11731003 123982003 more

UMLS ⁷¹ C2931649

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Summaries for Multiple Joint Dislocations, Short Stature, and Craniofacial...

KEGG : ³⁶ Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects (JDSSDHD), also termed Larsen-like syndrome, is an autosomal recessive disease that is caused by the mutations in the B3GAT3. B3GAT3 encodes key enzyme involving in glycosaminoglycan biosynthses. The mutation results in decreased levels of dermatan sulfate, chondroitin sulfate, and heparan sulfate proteoglycans. The affected individuals showed dysmorphic faces, bilateral dislocations of the elbows, hips, and knees, and short stature, as well as cardiovascular defects.

MalaCards based summary : Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects, also known as multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, is related to larsen-like syndrome b3gat3 type and larsen syndrome. An important gene associated with Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects is B3GAT3 (Beta-1,3-Glucuronyltransferase 3), and among its related pathways/superpathways are Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate and Glycosaminoglycan biosynthesis - heparan sulfate / heparin. Affiliated tissues include heart, bone and skin, and related phenotypes are delayed skeletal maturation and inguinal hernia

UniProtKB/Swiss-Prot : ⁷³ Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects: An autosomal recessive disease characterized by dysmorphic facies, bilateral dislocations of the elbows, hips, and knees, clubfeet, and short stature, as well as cardiovascular defects.

More information from OMIM: 245600

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Related Diseases for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Diseases related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)

#	Related Disease	Score	Top Affiliating Genes
1	larsen-like syndrome b3gat3 type	32.9	B4GALT7 B3GAT3
2	larsen syndrome	28.9	CHST3 B4GALT7 B3GAT3
3	larsen-like syndrome	12.8
4	larsen-like syndrome, lethal type	12.7
5	reunion island larsen-like syndrome	12.5
6	spondyloepiphyseal dysplasia with congenital joint dislocations	12.1
7	flnb disorders	10.2
8	craniosynostosis	10.1
9	ehlers-danlos syndrome, spondylodysplastic type, 1	10.0
10	thanatophoric dysplasia, type i	10.0
11	hydrops fetalis, nonimmune	10.0
12	intraocular pressure quantitative trait locus	10.0
13	quadriplegia	10.0
14	cleft tongue	10.0
15	immune hydrops fetalis	10.0
16	b4galt7-related spondylodysplastic ehlers-danlos syndrome	10.0
17	ehlers-danlos syndrome progeroid type	9.4	B4GALT7 B3GAT3
18	radioulnar synostosis	9.3	B4GALT7 B3GAT3
19	odontochondrodysplasia	9.2	CHST3 B4GALT7
20	desbuquois dysplasia	9.1	CHST3 B4GALT7 B3GAT3
21	temtamy preaxial brachydactyly syndrome	9.1	CHST3 B4GALT7 B3GAT3

Graphical network of the top 20 diseases related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:

Diseases related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects

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Symptoms & Phenotypes for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Human phenotypes related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:

³¹ (show top 50) (show all 71)

#	Description	HPO Frequency	HPO Source Accession
1	delayed skeletal maturation ³¹	occasional (7.5%)	HP:0002750
2	inguinal hernia ³¹	occasional (7.5%)	HP:0000023
3	pectus carinatum ³¹	occasional (7.5%)	HP:0000768
4	genu valgum ³¹	occasional (7.5%)	HP:0002857
5	flat face ³¹	occasional (7.5%)	HP:0012368
6	webbed neck ³¹	occasional (7.5%)	HP:0000465
7	motor delay ³¹	occasional (7.5%)	HP:0001270
8	sandal gap ³¹	occasional (7.5%)	HP:0001852
9	recurrent fractures ³¹	occasional (7.5%)	HP:0002757
10	congenital diaphragmatic hernia ³¹	occasional (7.5%)	HP:0000776
11	microretrognathia ³¹	occasional (7.5%)	HP:0000308
12	blue sclerae ³¹	occasional (7.5%)	HP:0000592
13	hyperextensible skin ³¹	occasional (7.5%)	HP:0000974
14	shoulder dislocation ³¹	occasional (7.5%)	HP:0003834
15	rhizomelia ³¹	occasional (7.5%)	HP:0008905
16	generalized hypotonia ³¹	occasional (7.5%)	HP:0001290
17	11 pairs of ribs ³¹	occasional (7.5%)	HP:0000878
18	generalized osteoporosis ³¹	occasional (7.5%)	HP:0040160
19	prominent antitragus ³¹	occasional (7.5%)	HP:0008593
20	metacarpophalangeal joint hyperextensibility ³¹	occasional (7.5%)	HP:0006099
21	depressed nasal bridge ³¹		HP:0005280
22	hypertelorism ³¹		HP:0000316
23	short neck ³¹		HP:0000470
24	muscular hypotonia ³¹		HP:0001252
25	scoliosis ³¹		HP:0002650
26	pes planus ³¹		HP:0001763
27	microtia ³¹		HP:0008551
28	hydrocephalus ³¹		HP:0000238
29	thick eyebrow ³¹		HP:0000574
30	short stature ³¹		HP:0004322
31	brachycephaly ³¹		HP:0000248
32	cardiomegaly ³¹		HP:0001640
33	prominent forehead ³¹		HP:0011220
34	frontal bossing ³¹		HP:0002007
35	microdontia ³¹		HP:0000691
36	cleft palate ³¹		HP:0000175
37	metatarsus adductus ³¹		HP:0001840
38	narrow mouth ³¹		HP:0000160
39	osteopenia ³¹		HP:0000938
40	osteoporosis ³¹		HP:0000939
41	low-set ears ³¹		HP:0000369
42	low posterior hairline ³¹		HP:0002162
43	bicuspid aortic valve ³¹		HP:0001647
44	elbow flexion contracture ³¹		HP:0002987
45	joint laxity ³¹		HP:0001388
46	mitral valve prolapse ³¹		HP:0001634
47	talipes equinovarus ³¹		HP:0001762
48	left ventricular hypertrophy ³¹		HP:0001712
49	downslanted palpebral fissures ³¹		HP:0000494
50	amblyopia ³¹		HP:0000646

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Nose:
depressed nasal bridge

Skeletal Spine:
scoliosis
osteopenia evident in childhood
atlanto-axial instability (in one patient)
atlanto-occipital instability (in one patient)

Growth Height:
short stature

Cardiovascular Heart:
cardiomegaly
atrial septal defect
bicuspid aortic valve
mitral valve prolapse
left ventricular hypertrophy
more

Head And Neck Ears:
low-set ears
small ears
dysmorphic ears
prominent antitragus (in some patients)
uplift of earlobes (in some patients)

Head And Neck Eyes:
amblyopia
esotropia
downslanting palpebral fissures
hyperopia
hypertelorism (in some patients)
more

Chest External Features:
narrow chest
chest asymmetry, mild

Head And Neck Teeth:
small teeth
extensive caries

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum (in some patients)
gracile ribs (in one patient)
11 pairs of ribs (rare)

Respiratory Lung:
restrictive lung disease secondary to small thorax (rare)

Skeletal Limbs:
shoulder dislocation (in some patients)
elbow dislocation, bilateral
elbow contracture
rhizomelic shortening (in some patients)
radioulnar synostosis (in some patients)
more

Skin Nails Hair Skin:
hyperextensible skin (in some patients)
excessive skin wrinkling of palms and soles (in one patient)

Neurologic Central Nervous System:
hydrocephalus (rare)
arrested hydrocephalus (rare)
verbal delay (in some patients)
motor delay (in one patient)
generalized cortical atrophy (in one patient)

Head And Neck Neck:
short neck
low posterior hairline
webbed neck (in some patients)

Skeletal Feet:
pes planus
talipes equinovarus
talipes equinovalgus
metatarsus varus
broad ends of toes
more

Head And Neck Head:
brachycephaly

Head And Neck Face:
prominent forehead
midface hypoplasia
micrognathia (in some patients)
microretrognathia (in some patients)
flat face (in one patient)

Skin Nails Hair Hair:
low posterior hairline
thick eyebrows

Skeletal Pelvis:
hip dislocation
mild dysplasia of hip joints
dysmorphic appearance of femoral head (in one patient)
gibbus deformity at l1 level (in one patient)

Head And Neck Mouth:
small mouth
cleft palate (rare)

Cardiovascular Vascular:
aortic root dilatation
pulmonary artery dilation, mild (in one patient)

Abdomen External Features:
inguinal hernia (in some patients)
protrusion of abdomen (in some patients)
diaphragmatic hernia (in some patients)

Skeletal:
hyperextensibility of large joints
generalized osteoporosis (in some patients)
early bone maturation (in some patients)
dissociated bone age (in some patients)
multiple fractures (rare)

Skeletal Hands:
wrist joint laxity
wrist joint dislocation (in some patients)
interphalangeal joint laxity
increased number of carpal ossification centers
metacarpal shortening
more

Muscle Soft Tissue:
hypotonia, generalized (in some patients)

Clinical features from OMIM:

245600

GenomeRNAi Phenotypes related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects according to GeneCards Suite gene sharing:

²⁶ (show all 11)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-104	9.4	B3GAT3
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-111	9.4	B4GALT7
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-113	9.4	B3GAT3 B4GALT7
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-114	9.4	B3GAT3
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-139	9.4	B3GAT3
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-173	9.4	B4GALT7
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-204	9.4	B4GALT7
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	9.4	B3GAT3
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-49	9.4	B4GALT7
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-81	9.4	B3GAT3
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	9.4	B4GALT7

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Drugs & Therapeutics for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Search Clinical Trials , NIH Clinical Center for Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects

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Genetic Tests for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Genetic tests related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:

#	Genetic test	Affiliating Genes
1	Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects ²⁹	B3GAT3 CHST3

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Anatomical Context for Multiple Joint Dislocations, Short Stature, and Craniofacial...

MalaCards organs/tissues related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:

⁴⁰

Heart, Bone, Skin, Eye, Lung

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Publications for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Articles related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:

(show all 12)

#	Title	Authors	PMID	Year
1	A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes. ⁶ ⁵⁶	Jones KL...Mefford HC	26086840	2015
2	Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3. ⁵⁶ ⁶	Budde BS...Kennerknecht I	25893793	2015
3	Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype. ⁵⁶ ⁶	von Oettingen JE...Dauber A	24668659	2014
4	Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. ⁶ ⁵⁶	Baasanjav S...Hoffmann K	21763480	2011
5	CHST3-Related Skeletal Dysplasia ⁶	Superti-Furga A...Unger S	21882400	2011
6	Hypertrophic Cardiomyopathy Overview ⁶	Cirino AL...Ho C	20301725	2008
7	Larsen syndrome associated with severe congenital hydrocephalus. ⁵⁶	Caksen H...Kurtoglu S	11837607	2001
8	Autosomal recessive versus autosomal dominant inheritance in Larsen syndrome: report of two affected sisters. ⁵⁶	Knoblauch H...Tinschert S	10546105	1999
9	Severe cardiac anomalies in sibs with Larsen syndrome. ⁵⁶	Strisciuglio P...Raia V	6655668	1983
10	Multiple congenital dislocations associated with other skeletal anomalies (Larsen's syndrome) in three siblings. ⁵⁶	Steel HH...Kohl EJ	4626580	1972
11	Multiple congenital dislocations associated with characteristic facial abnormality. ⁵⁶	LARSEN LJ...BOST FC	14779259	1950
12	Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis. ⁶¹	Byrne AB...Scott HS	31988067	2020

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Genes for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Genes related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	B3GAT3	Beta-1,3-Glucuronyltransferase 3	Protein Coding	1669.4	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	24668659 26086840 21882400 (more) 25893793 20301725 21763480
2	B4GALT7	Beta-1,4-Galactosyltransferase 7	Protein Coding	400	Pathogenic ⁶	21882400 20301725
3	CHST3	Carbohydrate Sulfotransferase 3	Protein Coding	100	Genetic Tests ²⁹

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Variations for Multiple Joint Dislocations, Short Stature, and Craniofacial...

ClinVar genetic disease variations for Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:

⁶ (show all 20) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	B3GAT3	NM_012200.4(B3GAT3):c.175C>T (p.Arg59Ter)	SNV	Pathogenic	577885	rs535206047	11:62388051-62388051	11:62620579-62620579
2	B4GALT7	NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys)	SNV	Pathogenic	5613	rs28937869	5:177035995-177035995	5:177608994-177608994
3	B3GAT3	NM_012200.4(B3GAT3):c.419C>T (p.Pro140Leu)	SNV	Pathogenic	225764	rs879255269	11:62384658-62384658	11:62617186-62617186
4	B3GAT3	NM_012200.4(B3GAT3):c.667G>A (p.Gly223Ser)	SNV	Pathogenic	225924	rs372487178	11:62384220-62384220	11:62616748-62616748
5	B3GAT3	NM_012200.4(B3GAT3):c.830G>A (p.Arg277Gln)	SNV	Pathogenic/Likely pathogenic	30573	rs387906937	11:62384057-62384057	11:62616585-62616585
6	COL11A2	NM_080680.3(COL11A2):c.1607G>A (p.Arg536Gln)	SNV	Uncertain significance	191205	rs770888294	6:33146854-33146854	6:33179077-33179077
7	B3GAT3	NM_012200.4(B3GAT3):c.247A>T (p.Thr83Ser)	SNV	Uncertain significance	649029		11:62387979-62387979	11:62620507-62620507
8	B3GAT3	NM_012200.4(B3GAT3):c.554G>A (p.Gly185Glu)	SNV	Uncertain significance	548015	rs140755387	11:62384523-62384523	11:62617051-62617051
9	B3GAT3	NM_012200.4(B3GAT3):c.955G>C (p.Glu319Gln)	SNV	Uncertain significance	567412	rs1565074659	11:62383226-62383226	11:62615754-62615754
10	B3GAT3	NM_012200.4(B3GAT3):c.704G>A (p.Arg235Gln)	SNV	Uncertain significance	854700		11:62384183-62384183	11:62616711-62616711
11	B3GAT3	NM_012200.4(B3GAT3):c.930G>A (p.Arg310=)	SNV	Likely benign	774896		11:62383251-62383251	11:62615779-62615779
12	B3GAT3	NM_012200.4(B3GAT3):c.741G>A (p.Arg247=)	SNV	Likely benign	717447		11:62384146-62384146	11:62616674-62616674
13	B3GAT3	NM_012200.4(B3GAT3):c.906T>G (p.Thr302=)	SNV	Likely benign	729929		11:62383981-62383981	11:62616509-62616509
14	B3GAT3	NM_012200.4(B3GAT3):c.277C>T (p.Leu93=)	SNV	Likely benign	734503		11:62384800-62384800	11:62617328-62617328
15	B3GAT3	NM_012200.4(B3GAT3):c.43G>C (p.Val15Leu)	SNV	Likely benign	729890		11:62389377-62389377	11:62621905-62621905
16	B3GAT3	NM_012200.4(B3GAT3):c.909+263C>G	SNV	Benign	802680		11:62383715-62383715	11:62616243-62616243
17	B3GAT3	NM_012200.4(B3GAT3):c.709G>A (p.Val237Met)	SNV	Benign	784708		11:62384178-62384178	11:62616706-62616706
18	B3GAT3	NM_012200.4(B3GAT3):c.909+263del	deletion	Benign	522222	rs753764477	11:62383715-62383715	11:62616243-62616243
19	B3GAT3	NM_012200.4(B3GAT3):c.821C>A (p.Thr274Asn)	SNV	Benign	544155	rs112223093	11:62384066-62384066	11:62616594-62616594
20	B3GAT3	NM_012200.4(B3GAT3):c.108C>T (p.Pro36=)	SNV	Benign	544154	rs75316688	11:62388118-62388118	11:62620646-62620646

UniProtKB/Swiss-Prot genetic disease variations for Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	B3GAT3	p.Arg277Gln	VAR_066624	rs387906937
2	B3GAT3	p.Pro140Leu	VAR_075370	rs879255269

Sources

Expression for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Search GEO for disease gene expression data for Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects.

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Pathways for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Pathways related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects according to KEGG:

³⁶

#	Name	Kegg Source Accession
1	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate	hsa00532
2	Glycosaminoglycan biosynthesis - heparan sulfate / heparin	hsa00534

Pathways related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Glycosaminoglycan metabolism ⁶⁵ Show member pathways chondroitin sulfate biosynthesis ¹ chondroitin sulfate biosynthesis (late stages) ¹ Heparan sulfate/heparin (HS-GAG) metabolism ⁶⁵ HS-GAG biosynthesis ⁶⁵ Hyaluronan biosynthesis and export ⁶⁵ Hyaluronan metabolism ⁶⁵ Hyaluronan uptake and degradation ⁶⁵ Metabolism of carbohydrates ⁶⁵	11.88	CHST3 B4GALT7 B3GAT3
2	Chondroitin sulfate/dermatan sulfate metabolism ⁶⁵ Show member pathways A tetrasaccharide linker sequence is required for GAG synthesis ⁶⁵ chondroitin biosynthesis ¹ Chondroitin sulfate biosynthesis ⁶⁵ CS/DS degradation ⁶⁵ Defective B3GALT6 causes EDSP2 and SEMDJL1 ⁶⁵ Defective B3GAT3 causes JDSSDHD ⁶⁵ Defective B4GALT7 causes EDS, progeroid type ⁶⁵ Defective CHST14 causes EDS, musculocontractural type ⁶⁵ Defective CHST3 causes SEDCJD ⁶⁵ Defective CHSY1 causes TPBS ⁶⁵ Defective EXT1 causes exostoses 1, TRPS2 and CHDS ⁶⁵ Defective EXT2 causes exostoses 2 ⁶⁵ dermatan sulfate biosynthesis ¹ Dermatan sulfate biosynthesis ⁶⁵ dermatan sulfate biosynthesis (late stages) ¹ Diseases associated with glycosaminoglycan metabolism ⁶⁵ glycoaminoglycan-protein linkage region biosynthesis ¹ Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate ³⁶ Glypican pathway ¹ HS-GAG degradation ⁶⁵ Proteogylcan syndecan-mediated signaling events ¹	11.31	CHST3 B4GALT7 B3GAT3
3	heparan sulfate biosynthesis ¹ Show member pathways Glycosaminoglycan biosynthesis - heparan sulfate / heparin ³⁶ heparan sulfate biosynthesis (late stages) ¹	10.99	B4GALT7 B3GAT3

Sources

GO Terms for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Cellular components related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	Golgi apparatus	GO:0005794	9.13	CHST3 B4GALT7 B3GAT3
2	Golgi membrane	GO:0000139	8.8	CHST3 B4GALT7 B3GAT3

Biological processes related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein glycosylation	GO:0006486	9.26	B4GALT7 B3GAT3
2	glycosaminoglycan biosynthetic process	GO:0006024	9.16	B4GALT7 B3GAT3
3	glycosaminoglycan metabolic process	GO:0030203	8.96	B4GALT7 B3GAT3
4	carbohydrate metabolic process	GO:0005975	8.8	CHST3 B4GALT7 B3GAT3

Molecular functions related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	transferase activity	GO:0016740	8.8	CHST3 B4GALT7 B3GAT3

Sources

Sources for Multiple Joint Dislocations, Short Stature, and Craniofacial...

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects (JDSCD)

Aliases & Classifications for Multiple Joint Dislocations, Short Stature, and Craniofacial...

MalaCards integrated aliases for Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Related Diseases for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Diseases related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:

Symptoms & Phenotypes for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Human phenotypes related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

GenomeRNAi Phenotypes related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Genetic Tests for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Genetic tests related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:

Anatomical Context for Multiple Joint Dislocations, Short Stature, and Craniofacial...

MalaCards organs/tissues related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:

Publications for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Articles related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:

Genes for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Genes related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects (3 elite genes):

Variations for Multiple Joint Dislocations, Short Stature, and Craniofacial...

ClinVar genetic disease variations for Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:

UniProtKB/Swiss-Prot genetic disease variations for Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:

Expression for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Pathways for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Pathways related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects according to KEGG:

Pathways related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects according to GeneCards Suite gene sharing:

GO Terms for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Cellular components related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects according to GeneCards Suite gene sharing:

Biological processes related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects according to GeneCards Suite gene sharing:

Molecular functions related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects according to GeneCards Suite gene sharing:

Sources for Multiple Joint Dislocations, Short Stature, and Craniofacial...