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: 39	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 ⁵⁷ ⁷² ⁶

Jdscd ⁵⁷ ⁷²

Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, with or Without Congenital Heart Defects ⁵⁷

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

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

Larsen Syndrome, Autosomal Recessive, Formerly ⁵⁷

Autosomal Recessive Larsen Syndrome ⁷²

Larsen-Like Syndrome, B3gat3 Type ⁵⁸

Larsen-Like Syndrome B3gat3 Type ⁷²

Larsen Syndrome, Recessive Type ⁷⁰

Larsen-Like Syndrome ⁷²

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

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® ⁵⁷ 245600

MeSH ⁴⁴ D000015 D004204

ICD10 via Orphanet ³³ Q74.8

Orphanet ⁵⁸ ORPHA284139

MedGen ⁴¹ C1855536 C3278404

SNOMED-CT via HPO ⁶⁸ 111266001 11731003 122480009 more

UMLS ⁷⁰ C2931649

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

UniProtKB/Swiss-Prot : ⁷² 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.

MalaCards based summary : Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects, also known as jdscd, is related to larsen-like syndrome b3gat3 type and spondyloepiphyseal dysplasia with congenital joint dislocations. 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 metabolism and Chondroitin sulfate/dermatan sulfate metabolism. Affiliated tissues include heart, bone and lung, and related phenotypes are delayed skeletal maturation and inguinal hernia

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	32.0	B4GALT7 B3GAT3
2	spondyloepiphyseal dysplasia with congenital joint dislocations	31.6	B4GALT7 B3GAT3
3	larsen syndrome	29.6	B4GALT7 B3GAT3
4	ehlers-danlos syndrome, spondylodysplastic type, 2	29.5	B4GALT7 B3GAT3
5	larsen-like syndrome	11.6
6	larsen-like syndrome, lethal type	11.4
7	flnb disorders	10.1
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	lymphatic malformation 7	10.0
14	quadriplegia	10.0
15	cleft tongue	10.0
16	spondylodysplastic ehlers-danlos syndrome	10.0
17	immune hydrops fetalis	10.0
18	b4galt7-related spondylodysplastic ehlers-danlos syndrome	10.0
19	desbuquois dysplasia	9.7	B4GALT7 B3GAT3
20	radioulnar synostosis	9.7	B4GALT7 B3GAT3
21	odontochondrodysplasia	9.5	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 80)

#	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	congenital diaphragmatic hernia ³¹	occasional (7.5%)	HP:0000776
7	microretrognathia ³¹	occasional (7.5%)	HP:0000308
8	hyperextensible skin ³¹	occasional (7.5%)	HP:0000974
9	shoulder dislocation ³¹	occasional (7.5%)	HP:0003834
10	rhizomelia ³¹	occasional (7.5%)	HP:0008905
11	11 pairs of ribs ³¹	occasional (7.5%)	HP:0000878
12	generalized osteoporosis ³¹	occasional (7.5%)	HP:0040160
13	prominent antitragus ³¹	occasional (7.5%)	HP:0008593
14	metacarpophalangeal joint hyperextensibility ³¹	occasional (7.5%)	HP:0006099
15	frontal bossing ³¹	very rare (1%)	HP:0002007
16	osteopenia ³¹	very rare (1%)	HP:0000938
17	depressed nasal bridge ³¹	very rare (1%)	HP:0005280
18	pes planus ³¹	very rare (1%)	HP:0001763
19	short stature ³¹	very rare (1%)	HP:0004322
20	low-set ears ³¹	very rare (1%)	HP:0000369
21	webbed neck ³¹	very rare (1%)	HP:0000465
22	motor delay ³¹	very rare (1%)	HP:0001270
23	joint hypermobility ³¹	very rare (1%)	HP:0001382
24	downslanted palpebral fissures ³¹	very rare (1%)	HP:0000494
25	narrow mouth ³¹	very rare (1%)	HP:0000160
26	sandal gap ³¹	very rare (1%)	HP:0001852
27	long philtrum ³¹	very rare (1%)	HP:0000343
28	platyspondyly ³¹	very rare (1%)	HP:0000926
29	recurrent fractures ³¹	very rare (1%)	HP:0002757
30	proptosis ³¹	very rare (1%)	HP:0000520
31	broad forehead ³¹	very rare (1%)	HP:0000337
32	hallux valgus ³¹	very rare (1%)	HP:0001822
33	radioulnar synostosis ³¹	very rare (1%)	HP:0002974
34	craniosynostosis ³¹	very rare (1%)	HP:0001363
35	blue sclerae ³¹	very rare (1%)	HP:0000592
36	midface retrusion ³¹	very rare (1%)	HP:0011800
37	dislocated radial head ³¹	very rare (1%)	HP:0003083
38	generalized hypotonia ³¹	very rare (1%)	HP:0001290
39	flared metaphysis ³¹	very rare (1%)	HP:0003015
40	multiple joint dislocation ³¹	very rare (1%)	HP:0012095
41	scoliosis ³¹		HP:0002650
42	hydrocephalus ³¹		HP:0000238
43	short neck ³¹		HP:0000470
44	hypertelorism ³¹		HP:0000316
45	microtia ³¹		HP:0008551
46	thick eyebrow ³¹		HP:0000574
47	brachycephaly ³¹		HP:0000248
48	cardiomegaly ³¹		HP:0001640
49	prominent forehead ³¹		HP:0011220
50	microdontia ³¹		HP:0000691

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

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

Head And Neck Nose:
depressed nasal bridge

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 (Updated 05-Apr-2021)

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...

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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, 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 11)

#	Title	Authors	PMID	Year
1	Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis. ⁶¹ ⁶ ⁵⁷	Byrne AB...Scott HS	31988067	2020
2	Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotype. ⁵⁷ ⁶	Yap P...Savarirayan R	26754439	2016
3	Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3. ⁶ ⁵⁷	Budde BS...Kennerknecht I	25893793	2015
4	Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. ⁵⁷ ⁶	Baasanjav S...Hoffmann K	21763480	2011
5	A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes. ⁵⁷	Jones KL...Mefford HC	26086840	2015
6	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. ⁵⁷	von Oettingen JE...Dauber A	24668659	2014
7	Larsen syndrome associated with severe congenital hydrocephalus. ⁵⁷	Caksen H...Kurtoglu S	11837607	2001
8	Autosomal recessive versus autosomal dominant inheritance in Larsen syndrome: report of two affected sisters. ⁵⁷	Knoblauch H...Tinschert S	10546105	1999
9	Severe cardiac anomalies in sibs with Larsen syndrome. ⁵⁷	Strisciuglio P...Raia V	6655668	1983
10	Multiple congenital dislocations associated with other skeletal anomalies (Larsen's syndrome) in three siblings. ⁵⁷	Steel HH...Kohl EJ	4626580	1972
11	Multiple congenital dislocations associated with characteristic facial abnormality. ⁵⁷	LARSEN LJ...BOST FC	14779259	1950

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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 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	B3GAT3	Beta-1,3-Glucuronyltransferase 3	Protein Coding	1569.39	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷² GeneCards inferred via : Disorders Variants (show sections)	25893793 21763480
2	B4GALT7	Beta-1,4-Galactosyltransferase 7	Protein Coding	25	Likely pathogenic ⁶

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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 33)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	B3GAT3	NM_012200.4(B3GAT3):c.175C>T (p.Arg59Ter)	SNV	Pathogenic	577885	rs535206047	GRCh37: 11:62388051-62388051 GRCh38: 11:62620579-62620579
2	B3GAT3	NM_012200.4(B3GAT3):c.419C>T (p.Pro140Leu)	SNV	Pathogenic	225764	rs879255269	GRCh37: 11:62384658-62384658 GRCh38: 11:62617186-62617186
3	B3GAT3	NM_012200.4(B3GAT3):c.505C>T (p.Arg169Trp)	SNV	Pathogenic	981501		GRCh37: 11:62384572-62384572 GRCh38: 11:62617100-62617100
4	B3GAT3	NM_012200.4(B3GAT3):c.830G>A (p.Arg277Gln)	SNV	Pathogenic	30573	rs387906937	GRCh37: 11:62384057-62384057 GRCh38: 11:62616585-62616585
5	B3GAT3	NM_012200.4(B3GAT3):c.481C>T (p.Arg161Trp)	SNV	Pathogenic	978466	rs765246909	GRCh37: 11:62384596-62384596 GRCh38: 11:62617124-62617124
6	B3GAT3	NM_012200.4(B3GAT3):c.889C>T (p.Arg297Trp)	SNV	Pathogenic	978467	rs759636773	GRCh37: 11:62383998-62383998 GRCh38: 11:62616526-62616526
7	B3GAT3	NM_012200.4(B3GAT3):c.673C>T (p.Arg225Ter)	SNV	Pathogenic	620480	rs377340567	GRCh37: 11:62384214-62384214 GRCh38: 11:62616742-62616742
8	B3GAT3	NM_012200.4(B3GAT3):c.914del (p.Leu305fs)	Deletion	Pathogenic	1032552		GRCh37: 11:62383267-62383267 GRCh38: 11:62615795-62615795
9	B4GALT7	NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys)	SNV	Likely pathogenic	5613	rs28937869	GRCh37: 5:177035995-177035995 GRCh38: 5:177608994-177608994
10	B3GAT3	NM_012200.4(B3GAT3):c.424G>A (p.Ala142Thr)	SNV	Uncertain significance	1007316		GRCh37: 11:62384653-62384653 GRCh38: 11:62617181-62617181
11	B3GAT3	NM_012200.4(B3GAT3):c.32C>T (p.Ala11Val)	SNV	Uncertain significance	1010876		GRCh37: 11:62389388-62389388 GRCh38: 11:62621916-62621916
12	B3GAT3	NM_012200.4(B3GAT3):c.302G>C (p.Ser101Thr)	SNV	Uncertain significance	1021259		GRCh37: 11:62384775-62384775 GRCh38: 11:62617303-62617303
13	B3GAT3	NM_012200.4(B3GAT3):c.704G>A (p.Arg235Gln)	SNV	Uncertain significance	854700		GRCh37: 11:62384183-62384183 GRCh38: 11:62616711-62616711
14	B3GAT3	NM_012200.4(B3GAT3):c.980G>A (p.Arg327Gln)	SNV	Uncertain significance	1029180		GRCh37: 11:62383201-62383201 GRCh38: 11:62615729-62615729
15	B3GAT3	NM_012200.4(B3GAT3):c.58CTC[1] (p.Leu21del)	Microsatellite	Uncertain significance	1035403		GRCh37: 11:62389357-62389359 GRCh38: 11:62621885-62621887
16	B3GAT3	NM_012200.4(B3GAT3):c.167C>T (p.Ala56Val)	SNV	Uncertain significance	1040028		GRCh37: 11:62388059-62388059 GRCh38: 11:62620587-62620587
17	B3GAT3	NM_012200.4(B3GAT3):c.506G>A (p.Arg169Gln)	SNV	Uncertain significance	1041636		GRCh37: 11:62384571-62384571 GRCh38: 11:62617099-62617099
18	B3GAT3	NM_012200.4(B3GAT3):c.992del (p.Pro331fs)	Deletion	Uncertain significance	936655		GRCh37: 11:62383189-62383189 GRCh38: 11:62615717-62615717
19	B3GAT3	NM_012200.4(B3GAT3):c.95A>G (p.Asp32Gly)	SNV	Uncertain significance	936692		GRCh37: 11:62388131-62388131 GRCh38: 11:62620659-62620659
20	B3GAT3	NM_012200.4(B3GAT3):c.955G>C (p.Glu319Gln)	SNV	Uncertain significance	567412	rs1565074659	GRCh37: 11:62383226-62383226 GRCh38: 11:62615754-62615754
21	B3GAT3	NM_012200.4(B3GAT3):c.554G>A (p.Gly185Glu)	SNV	Uncertain significance	548015	rs140755387	GRCh37: 11:62384523-62384523 GRCh38: 11:62617051-62617051
22	COL11A2	NM_080680.3(COL11A2):c.1607G>A (p.Arg536Gln)	SNV	Uncertain significance	191205	rs770888294	GRCh37: 6:33146854-33146854 GRCh38: 6:33179077-33179077
23	B3GAT3	NM_012200.4(B3GAT3):c.247A>T (p.Thr83Ser)	SNV	Uncertain significance	649029	rs1590779613	GRCh37: 11:62387979-62387979 GRCh38: 11:62620507-62620507
24	B3GAT3	NM_012200.4(B3GAT3):c.741G>A (p.Arg247=)	SNV	Likely benign	717447	rs151230659	GRCh37: 11:62384146-62384146 GRCh38: 11:62616674-62616674
25	B3GAT3	NM_012200.4(B3GAT3):c.43G>C (p.Val15Leu)	SNV	Likely benign	729890	rs150651989	GRCh37: 11:62389377-62389377 GRCh38: 11:62621905-62621905
26	B3GAT3	NM_012200.4(B3GAT3):c.906T>G (p.Thr302=)	SNV	Likely benign	729929	rs111242496	GRCh37: 11:62383981-62383981 GRCh38: 11:62616509-62616509
27	B3GAT3	NM_012200.4(B3GAT3):c.277C>T (p.Leu93=)	SNV	Likely benign	734503	rs201779956	GRCh37: 11:62384800-62384800 GRCh38: 11:62617328-62617328
28	B3GAT3	NM_012200.4(B3GAT3):c.930G>A (p.Arg310=)	SNV	Likely benign	774896	rs147883248	GRCh37: 11:62383251-62383251 GRCh38: 11:62615779-62615779
29	B3GAT3	NM_012200.4(B3GAT3):c.709G>A (p.Val237Met)	SNV	Benign	784708	rs140378202	GRCh37: 11:62384178-62384178 GRCh38: 11:62616706-62616706
30	B3GAT3	NM_012200.4(B3GAT3):c.909+263C>G	SNV	Benign	802680	rs12794886	GRCh37: 11:62383715-62383715 GRCh38: 11:62616243-62616243
31	B3GAT3	NM_012200.4(B3GAT3):c.909+263del	Deletion	Benign	522222	rs753764477	GRCh37: 11:62383715-62383715 GRCh38: 11:62616243-62616243
32	B3GAT3	NM_012200.4(B3GAT3):c.108C>T (p.Pro36=)	SNV	Benign	544154	rs75316688	GRCh37: 11:62388118-62388118 GRCh38: 11:62620646-62620646
33	B3GAT3	NM_012200.4(B3GAT3):c.821C>A (p.Thr274Asn)	SNV	Benign	544155	rs112223093	GRCh37: 11:62384066-62384066 GRCh38: 11:62616594-62616594

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

⁷²

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

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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 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	11.91	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	11.46	B4GALT7 B3GAT3
3	heparan sulfate biosynthesis ¹ Show member pathways Glycosaminoglycan biosynthesis - heparan sulfate / heparin ³⁶ heparan sulfate biosynthesis (late stages) ¹	10.46	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 membrane	GO:0000139	8.62	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	carbohydrate metabolic process	GO:0005975	9.26	B4GALT7 B3GAT3
2	protein glycosylation	GO:0006486	9.16	B4GALT7 B3GAT3
3	glycosaminoglycan biosynthetic process	GO:0006024	8.96	B4GALT7 B3GAT3
4	glycosaminoglycan metabolic process	GO:0030203	8.62	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 GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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 MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

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 Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ 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...

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 (1 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 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:

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