DBQD1
MCID: DSB006
MIFTS: 45

Desbuquois Dysplasia 1 (DBQD1)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Desbuquois Dysplasia 1

MalaCards integrated aliases for Desbuquois Dysplasia 1:

Name: Desbuquois Dysplasia 1 57 75 29 6 73
Desbuquois Syndrome 57 76 53 59 75 37 73
Micromelic Dwarfism with Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification 57 75
Desbuquois Dysplasia 53 59
Dbqd1 57 75
Dbqd 53 59
Micromelic Dwarfism, Narrow Chest, Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification 53
Joint Instability 44

Characteristics:

Orphanet epidemiological data:

59
desbuquois syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: embryofetal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
apparent at birth
highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence
patients can be divided into 2 groups based on whether typical hand anomalies are present


HPO:

32
desbuquois dysplasia 1:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Desbuquois Dysplasia 1

OMIM : 57 Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009). Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011). (251450)

MalaCards based summary : Desbuquois Dysplasia 1, also known as desbuquois syndrome, is related to desbuquois dysplasia and desbuquois dysplasia 2, and has symptoms including waddling gait An important gene associated with Desbuquois Dysplasia 1 is CANT1 (Calcium Activated Nucleotidase 1), and among its related pathways/superpathways are Purine metabolism and Pyrimidine metabolism. Affiliated tissues include bone, eye and testes, and related phenotypes are short neck and intellectual disability

NIH Rare Diseases : 53 Desbuquois syndrome (DBQD) is a rare type of osteochondrodysplasia (a disorder of the development of bones and cartilage). Characteristics may vary in severity and can include short stature with short extremities, severe joint laxity with dislocation, osteopenia, kyphoscoliosis, distinctive facial characteristics and other abnormalities.Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has been described in 7 patients originating from Korea and Japan, and is characterized by short stature, joint and minor facial anomalies, together with significant hand anomalies with short bones in the hands, long fingers and advanced bone age. DBQD type 1 and Kim variant are caused by mutations in the geneCANT1.  Some cases of DBQD type 2 are caused by mutations in the gene XYLT1 but in other cases the cause is unknown. It is inherited in an autosomal recessive manner. Type 1 can be associated with severe respiratory problems. Treatment for the condition is geared towards the signs and symptoms present in each individual.

UniProtKB/Swiss-Prot : 75 Desbuquois dysplasia 1: A chondrodysplasia characterized by severe prenatal and postnatal growth retardation (less than -5 SD), joint laxity, short extremities, progressive scoliosis, round face, midface hypoplasia, prominent bulging eyes. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advance carpal and tarsal bone age. Two forms of Desbuquois dysplasia are distinguished on the basis of the presence or absence of characteristic hand anomalies: an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and phalangeal dislocations.

Wikipedia : 76 Larsen syndrome (LS) is a congenital disorder discovered in 1950 by Larsen and associates when they... more...

Related Diseases for Desbuquois Dysplasia 1

Diseases in the Desbuquois Dysplasia family:

Desbuquois Dysplasia 1 Desbuquois Dysplasia 2

Diseases related to Desbuquois Dysplasia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 desbuquois dysplasia 32.2 CANT1 XYLT1
2 desbuquois dysplasia 2 30.9 LOC102723692 LOC107987234 XYLT1
3 joint laxity, familial 11.9
4 bone dysplasia, lethal, holmgren type 11.1
5 catel-manzke syndrome 11.1
6 diastrophic dysplasia 10.3
7 multiple epiphyseal dysplasia 10.1
8 growth hormone deficiency 10.1
9 dwarfism 10.0
10 osteoarthritis 10.0
11 neuroma 9.9
12 lateral meningocele syndrome 9.7
13 chordoma 9.7
14 arthritis 9.7
15 meningocele 9.7
16 ehlers-danlos syndrome 9.7
17 hypermobility syndrome 9.7
18 ulnar neuropathy 9.7
19 poliomyelitis 9.7
20 neuropathy 9.7
21 hypermobile ehlers-danlos syndrome 9.7
22 slipped capital femoral epiphysis 9.7
23 synovial chondromatosis 9.7
24 epiphysiolysis of the hip 9.7

Graphical network of the top 20 diseases related to Desbuquois Dysplasia 1:



Diseases related to Desbuquois Dysplasia 1

Symptoms & Phenotypes for Desbuquois Dysplasia 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck

Skeletal Spine:
scoliosis
kyphosis
platyspondyly
sagittal cleft
coronal cleft
more
Head And Neck Nose:
short nose
flat nasal bridge

Skeletal Pelvis:
coxa valga
flat acetabular roof
coxa vara
elevated greater trochanter
'swedish key' proximal femur (flat proximal femoral metaphysis with medial spike and exaggerated lesser tuberosity)
more
Skeletal Hands:
brachydactyly
short metacarpals
short first metacarpal
phalangeal dislocations
radial deviation of the fingers
more
Skeletal Limbs:
genu varum
radioulnar dislocation
flat epiphyses
wide metaphyses
proximal fibular overgrowth

Head And Neck Mouth:
microstomia

Growth Height:
short stature, disproportionate
dwarfism, short-limb, prenatal onset
average adult height 114 cm

Growth Weight:
obesity

Skeletal Feet:
pes planus
sandal gap
advanced tarsal ossification
short metatarsals
phalangeal dislocations
more
Skeletal:
osteoporosis
joint laxity
joint dislocations
osteoarthritis, progressive

Neurologic Central Nervous System:
waddling gait
hypotonia
delayed motor development
mental retardation (in some)

Head And Neck Face:
round face
microretrognathia
midface hypoplasia

Head And Neck Eyes:
congenital glaucoma
bulging eyes
prominent eyes
myopia, apparent with age

Chest External Features:
narrow thorax

Chest Ribs Sternum Clavicles And Scapulae:
widened anterior ribs


Clinical features from OMIM:

251450

Human phenotypes related to Desbuquois Dysplasia 1:

59 32 (show top 50) (show all 71)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
4 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
5 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
6 aplasia/hypoplasia of the abdominal wall musculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0010318
7 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
8 coxa valga 59 32 frequent (33%) Frequent (79-30%) HP:0002673
9 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
10 genu recurvatum 59 32 frequent (33%) Frequent (79-30%) HP:0002816
11 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
12 small hand 59 32 frequent (33%) Frequent (79-30%) HP:0200055
13 glaucoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000501
14 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
15 hypotrichosis 59 32 frequent (33%) Frequent (79-30%) HP:0001006
16 elbow dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0003042
17 ventricular septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001629
18 patellar dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002999
19 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
20 radioulnar synostosis 59 32 frequent (33%) Frequent (79-30%) HP:0002974
21 disproportionate short-limb short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008873
22 proptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000520
23 camptodactyly of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0100490
24 coxa vara 59 32 frequent (33%) Frequent (79-30%) HP:0002812
25 blue sclerae 59 32 frequent (33%) Frequent (79-30%) HP:0000592
26 accelerated skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0005616
27 bell-shaped thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0001591
28 malar flattening 32 HP:0000272
29 obesity 32 HP:0001513
30 osteoarthritis 32 HP:0002758
31 muscular hypotonia 32 HP:0001252
32 kyphosis 32 HP:0002808
33 hyperlordosis 32 HP:0003307
34 pes planus 32 HP:0001763
35 short nose 32 HP:0003196
36 osteoporosis 32 HP:0000939
37 narrow chest 32 HP:0000774
38 platyspondyly 32 HP:0000926
39 myopia 32 HP:0000545
40 waddling gait 32 HP:0002515
41 abnormality of the eyelashes 59 Frequent (79-30%)
42 motor delay 32 HP:0001270
43 joint laxity 32 HP:0001388
44 talipes equinovarus 32 HP:0001762
45 narrow mouth 32 HP:0000160
46 brachydactyly 32 HP:0001156
47 sandal gap 32 HP:0001852
48 round face 32 HP:0000311
49 flattened epiphysis 32 HP:0003071
50 genu varum 32 HP:0002970

UMLS symptoms related to Desbuquois Dysplasia 1:


waddling gait

Drugs & Therapeutics for Desbuquois Dysplasia 1

Search Clinical Trials , NIH Clinical Center for Desbuquois Dysplasia 1

Cochrane evidence based reviews: joint instability

Genetic Tests for Desbuquois Dysplasia 1

Genetic tests related to Desbuquois Dysplasia 1:

# Genetic test Affiliating Genes
1 Desbuquois Dysplasia 1 29 CANT1

Anatomical Context for Desbuquois Dysplasia 1

MalaCards organs/tissues related to Desbuquois Dysplasia 1:

41
Bone, Eye, Testes

Publications for Desbuquois Dysplasia 1

Articles related to Desbuquois Dysplasia 1:

# Title Authors Year
1
Desbuquois syndrome in three sisters with significantly different lengths of survival. ( 16642505 )
2006
2
Use of CobraPLA for airway management in a neonate with Desbuquois syndrome. Case report and anesthetic implications. ( 15960646 )
2005
3
Desbuquois syndrome: clinical and radiological report of the first two Chinese cases from a consanguineous family. ( 14629506 )
2003
4
Pathological case of the month: Desbuquois syndrome. ( 11483130 )
2001
5
Desbuquois syndrome in an Arab Bedouin family. ( 9001812 )
1996
6
Desbuquois syndrome: three further cases and review of the literature. ( 7606320 )
1995
7
Desbuquois syndrome complicated by obstructive sleep apnoea and cervical kyphosis. ( 8074147 )
1994
8
Desbuquois syndrome: clinical, radiographic, and morphologic characterization. ( 7977470 )
1994
9
Desbuquois syndrome presenting with severe neonatal dwarfism, spondylo-epiphyseal dysplasia and advanced carpal bone age. ( 1437369 )
1992
10
Desbuquois syndrome. ( 1959544 )
1991

Variations for Desbuquois Dysplasia 1

UniProtKB/Swiss-Prot genetic disease variations for Desbuquois Dysplasia 1:

75 (show all 11)
# Symbol AA change Variation ID SNP ID
1 CANT1 p.Pro299Leu VAR_062980 rs267606700
2 CANT1 p.Arg300Cys VAR_062981 rs267606701
3 CANT1 p.Arg300His VAR_062982 rs267606699
4 CANT1 p.Asp112Glu VAR_068655 rs749246739
5 CANT1 p.Trp125Cys VAR_068656 rs587776898
6 CANT1 p.Met165Thr VAR_068657
7 CANT1 p.Leu224Pro VAR_068658 rs150181226
8 CANT1 p.Val226Met VAR_068659 rs377546036
9 CANT1 p.Ser303Arg VAR_068660
10 CANT1 p.Ala360Asp VAR_068662 rs387907081
11 CANT1 p.Ile374Asn VAR_068663

ClinVar genetic disease variations for Desbuquois Dysplasia 1:

6 (show top 50) (show all 53)
# Gene Variation Type Significance SNP ID Assembly Location
1 CANT1 5'UTR-exon 1 deletion (2703 bp) deletion Pathogenic GRCh38 Chromosome 17, 79009664: 79009817
2 CANT1 NM_001159772.1(CANT1): c.734delC (p.Pro245Argfs) deletion Pathogenic rs587776509 GRCh37 Chromosome 17, 76991201: 76991201
3 CANT1 NM_001159772.1(CANT1): c.734delC (p.Pro245Argfs) deletion Pathogenic rs587776509 GRCh38 Chromosome 17, 78995119: 78995119
4 CANT1 NM_138793.3(CANT1): c.898C> T (p.Arg300Cys) single nucleotide variant Pathogenic rs267606701 GRCh37 Chromosome 17, 76989940: 76989940
5 CANT1 NM_138793.3(CANT1): c.898C> T (p.Arg300Cys) single nucleotide variant Pathogenic rs267606701 GRCh38 Chromosome 17, 78993858: 78993858
6 CANT1 NM_001159772.1(CANT1): c.899G> A (p.Arg300His) single nucleotide variant Pathogenic rs267606699 GRCh37 Chromosome 17, 76989939: 76989939
7 CANT1 NM_001159772.1(CANT1): c.899G> A (p.Arg300His) single nucleotide variant Pathogenic rs267606699 GRCh38 Chromosome 17, 78993857: 78993857
8 CANT1 NM_001159772.1(CANT1): c.909_910insGCCGC (p.Gln304Alafs) insertion Pathogenic rs587776510 GRCh37 Chromosome 17, 76989928: 76989929
9 CANT1 NM_001159772.1(CANT1): c.909_910insGCCGC (p.Gln304Alafs) insertion Pathogenic rs587776510 GRCh38 Chromosome 17, 78993846: 78993847
10 CANT1 NM_001159772.1(CANT1): c.374G> A (p.Trp125Ter) single nucleotide variant Pathogenic rs267606702 GRCh37 Chromosome 17, 76993331: 76993331
11 CANT1 NM_001159772.1(CANT1): c.374G> A (p.Trp125Ter) single nucleotide variant Pathogenic rs267606702 GRCh38 Chromosome 17, 78997249: 78997249
12 CANT1 NM_001159772.1(CANT1): c.896C> T (p.Pro299Leu) single nucleotide variant Pathogenic rs267606700 GRCh37 Chromosome 17, 76989942: 76989942
13 CANT1 NM_001159772.1(CANT1): c.896C> T (p.Pro299Leu) single nucleotide variant Pathogenic rs267606700 GRCh38 Chromosome 17, 78993860: 78993860
14 XYLT1 NM_022166.3(XYLT1): c.343G> T (p.Ala115Ser) single nucleotide variant Benign rs61758388 GRCh37 Chromosome 16, 17564311: 17564311
15 XYLT1 NM_022166.3(XYLT1): c.343G> T (p.Ala115Ser) single nucleotide variant Benign rs61758388 GRCh38 Chromosome 16, 17470454: 17470454
16 CANT1 NM_001159772.1(CANT1): c.902_906dupGCGCC (p.Ser303Alafs) duplication Pathogenic rs587776895 GRCh37 Chromosome 17, 76989932: 76989936
17 CANT1 NM_001159772.1(CANT1): c.902_906dupGCGCC (p.Ser303Alafs) duplication Pathogenic rs587776895 GRCh38 Chromosome 17, 78993850: 78993854
18 CANT1 NM_001159772.1(CANT1): c.228dupC (p.Trp77Leufs) duplication Pathogenic rs587776896 GRCh37 Chromosome 17, 76993477: 76993477
19 CANT1 NM_001159772.1(CANT1): c.228dupC (p.Trp77Leufs) duplication Pathogenic rs587776896 GRCh38 Chromosome 17, 78997395: 78997395
20 CANT1 NM_138793.3(CANT1): c.277_278delCT (p.Leu93Valfs) deletion Pathogenic rs587776897 GRCh37 Chromosome 17, 76993427: 76993428
21 CANT1 NM_138793.3(CANT1): c.277_278delCT (p.Leu93Valfs) deletion Pathogenic rs587776897 GRCh38 Chromosome 17, 78997345: 78997346
22 CANT1 NM_001159772.1(CANT1): c.671T> C (p.Leu224Pro) single nucleotide variant Pathogenic rs150181226 GRCh37 Chromosome 17, 76991264: 76991264
23 CANT1 NM_001159772.1(CANT1): c.671T> C (p.Leu224Pro) single nucleotide variant Pathogenic rs150181226 GRCh38 Chromosome 17, 78995182: 78995182
24 CANT1 NM_001159772.1(CANT1): c.375G> C (p.Trp125Cys) single nucleotide variant Pathogenic rs587776898 GRCh37 Chromosome 17, 76993330: 76993330
25 CANT1 NM_001159772.1(CANT1): c.375G> C (p.Trp125Cys) single nucleotide variant Pathogenic rs587776898 GRCh38 Chromosome 17, 78997248: 78997248
26 CANT1 NM_001159772.1(CANT1): c.676G> A (p.Val226Met) single nucleotide variant Pathogenic rs377546036 GRCh37 Chromosome 17, 76991259: 76991259
27 CANT1 NM_001159772.1(CANT1): c.676G> A (p.Val226Met) single nucleotide variant Pathogenic rs377546036 GRCh38 Chromosome 17, 78995177: 78995177
28 CANT1 NM_001159772.1(CANT1): c.1079C> A (p.Ala360Asp) single nucleotide variant Pathogenic rs387907081 GRCh37 Chromosome 17, 76989759: 76989759
29 CANT1 NM_001159772.1(CANT1): c.1079C> A (p.Ala360Asp) single nucleotide variant Pathogenic rs387907081 GRCh38 Chromosome 17, 78993677: 78993677
30 CANT1 NM_001159772.1(CANT1): c.-286+1G> A single nucleotide variant Pathogenic rs587776951 GRCh37 Chromosome 17, 77005745: 77005745
31 CANT1 NM_001159772.1(CANT1): c.-286+1G> A single nucleotide variant Pathogenic rs587776951 GRCh38 Chromosome 17, 79009663: 79009663
32 CANT1 NM_001159772.1(CANT1): c.278delT (p.Leu93Argfs) deletion Pathogenic rs767601069 GRCh37 Chromosome 17, 76993427: 76993427
33 CANT1 NM_001159772.1(CANT1): c.278delT (p.Leu93Argfs) deletion Pathogenic rs767601069 GRCh38 Chromosome 17, 78997345: 78997345
34 CANT1 NM_001159772.1(CANT1): c.836-9G> A single nucleotide variant Likely pathogenic rs538543007 GRCh37 Chromosome 17, 76990011: 76990011
35 CANT1 NM_001159772.1(CANT1): c.836-9G> A single nucleotide variant Likely pathogenic rs538543007 GRCh38 Chromosome 17, 78993929: 78993929
36 XYLT1 NM_022166.3(XYLT1): c.1272G> A (p.Ala424=) single nucleotide variant Benign rs144531370 GRCh37 Chromosome 16, 17292086: 17292086
37 XYLT1 NM_022166.3(XYLT1): c.1272G> A (p.Ala424=) single nucleotide variant Benign rs144531370 GRCh38 Chromosome 16, 17198229: 17198229
38 CANT1 NM_001159772.1(CANT1): c.551C> T (p.Thr184Met) single nucleotide variant Likely pathogenic rs770371904 GRCh37 Chromosome 17, 76993154: 76993154
39 CANT1 NM_001159772.1(CANT1): c.551C> T (p.Thr184Met) single nucleotide variant Likely pathogenic rs770371904 GRCh38 Chromosome 17, 78997072: 78997072
40 XYLT1 NC_000016.10: g.(?_17108675)_(17470816_?)del deletion Pathogenic GRCh37 Chromosome 16, 17202532: 17564673
41 XYLT1 NC_000016.10: g.(?_17108675)_(17470816_?)del deletion Pathogenic GRCh38 Chromosome 16, 17108675: 17470816
42 XYLT1 NM_022166.3(XYLT1): c.1217G> A (p.Arg406Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 17292141: 17292141
43 XYLT1 NM_022166.3(XYLT1): c.1217G> A (p.Arg406Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 17198284: 17198284
44 XYLT1 NM_022166.3(XYLT1): c.2007G> A (p.Thr669=) single nucleotide variant Likely benign rs150492983 GRCh38 Chromosome 16, 17134493: 17134493
45 XYLT1 NM_022166.3(XYLT1): c.2007G> A (p.Thr669=) single nucleotide variant Likely benign rs150492983 GRCh37 Chromosome 16, 17228350: 17228350
46 CANT1 NM_001159772.1(CANT1): c.1112C> T (p.Ala371Val) single nucleotide variant Likely pathogenic rs372631124 GRCh37 Chromosome 17, 76989726: 76989726
47 CANT1 NM_001159772.1(CANT1): c.1112C> T (p.Ala371Val) single nucleotide variant Likely pathogenic rs372631124 GRCh38 Chromosome 17, 78993644: 78993644
48 XYLT1 NM_022166.3(XYLT1): c.830G> T (p.Arg277Leu) single nucleotide variant Uncertain significance rs751753807 GRCh37 Chromosome 16, 17352928: 17352928
49 XYLT1 NM_022166.3(XYLT1): c.830G> T (p.Arg277Leu) single nucleotide variant Uncertain significance rs751753807 GRCh38 Chromosome 16, 17259071: 17259071
50 XYLT1 NM_022166.3(XYLT1): c.1756C> T (p.Arg586Cys) single nucleotide variant Uncertain significance rs139179946 GRCh38 Chromosome 16, 17138363: 17138363

Expression for Desbuquois Dysplasia 1

Search GEO for disease gene expression data for Desbuquois Dysplasia 1.

Pathways for Desbuquois Dysplasia 1

Pathways related to Desbuquois Dysplasia 1 according to KEGG:

37
# Name Kegg Source Accession
1 Purine metabolism hsa00230
2 Pyrimidine metabolism hsa00240
3 Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate hsa00532
4 Glycosaminoglycan biosynthesis - heparan sulfate / heparin hsa00534

GO Terms for Desbuquois Dysplasia 1

Biological processes related to Desbuquois Dysplasia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteoglycan biosynthetic process GO:0030166 8.62 CANT1 XYLT1

Sources for Desbuquois Dysplasia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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