DDSH
MCID: DYS160
MIFTS: 48

Dyssegmental Dysplasia, Silverman-Handmaker Type (DDSH)

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

Aliases & Classifications for Dyssegmental Dysplasia, Silverman-Handmaker Type

MalaCards integrated aliases for Dyssegmental Dysplasia, Silverman-Handmaker Type:

Name: Dyssegmental Dysplasia, Silverman-Handmaker Type 57 58 13 54
Ddsh 57 20 72
Silverman-Handmaker Type Dyssegmental Dysplasia 12 15
Dyssegmental Dysplasia Silverman-Handmaker Type 20 72
Dyssegmental Dwarfism Silverman-Handmaker Type 20 6
Anisospondylic Camptomicromelic Dwarfism, Silverman-Handmaker Type 57
Anisospondylic Camptomicromelic Dwarfism Silverman-Handmaker Type 20
Dysplasia, Dyssegmental, Silverman-Handmaker Type 39
Dyssegmental Dwarfism, Silverman-Handmaker Type 57

Characteristics:

Orphanet epidemiological data:

58
dyssegmental dysplasia, silverman-handmaker type
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
neonatal lethal


HPO:

31
dyssegmental dysplasia, silverman-handmaker type:
Onset and clinical course neonatal death
Inheritance autosomal recessive inheritance


Classifications:

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


Summaries for Dyssegmental Dysplasia, Silverman-Handmaker Type

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1865 Definition Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.

MalaCards based summary : Dyssegmental Dysplasia, Silverman-Handmaker Type, also known as ddsh, is related to dwarfism and dyssegmental dysplasia, rolland-desbuquois type. An important gene associated with Dyssegmental Dysplasia, Silverman-Handmaker Type is HSPG2 (Heparan Sulfate Proteoglycan 2), and among its related pathways/superpathways are ERK Signaling and Phospholipase-C Pathway. Affiliated tissues include eye, bone and prostate, and related phenotypes are bowing of the long bones and joint stiffness

Disease Ontology : 12 An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36.

OMIM® : 57 Silverman-Handmaker dyssegmental dysplasia (DDSH) is a lethal autosomal recessive skeletal dysplasia with anisospondyly and micromelia. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocele. The endochondral growth plate is short, the calcospherites (spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage (summary by Arikawa-Hirasawa et al., 2001). (224410) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Dyssegmental dysplasia Silverman-Handmaker type: The dyssegmental dysplasias are rare, autosomal recessive skeletal dysplasias with anisospondyly and micromelia. There are two recognized types: the severe, lethal DDSH and the milder Rolland-Desbuquois form. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocoele. The endochondral growth plate is short, the calcospherites (which are spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage.

Related Diseases for Dyssegmental Dysplasia, Silverman-Handmaker Type

Graphical network of the top 20 diseases related to Dyssegmental Dysplasia, Silverman-Handmaker Type:



Diseases related to Dyssegmental Dysplasia, Silverman-Handmaker Type

Symptoms & Phenotypes for Dyssegmental Dysplasia, Silverman-Handmaker Type

Human phenotypes related to Dyssegmental Dysplasia, Silverman-Handmaker Type:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bowing of the long bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0006487
2 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
3 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
4 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
5 abnormality of pelvic girdle bone morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002644
6 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
7 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
8 blue sclerae 58 31 hallmark (90%) Very frequent (99-80%) HP:0000592
9 disproportionate short-limb short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0008873
10 anisospondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002879
11 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
12 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
13 umbilical hernia 58 31 frequent (33%) Frequent (79-30%) HP:0001537
14 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
15 atrial septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001631
16 depressed nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000457
17 wide nasal bridge 31 HP:0000431
18 flat face 31 HP:0012368
19 cryptorchidism 31 HP:0000028
20 talipes equinovarus 31 HP:0001762
21 narrow mouth 31 HP:0000160
22 malar flattening 31 HP:0000272
23 single umbilical artery 31 HP:0001195
24 pulmonary hypoplasia 31 HP:0002089
25 posteriorly rotated ears 31 HP:0000358
26 thoracic hypoplasia 31 HP:0005257
27 short long bone 31 HP:0003026
28 abnormality of the abdominal wall 31 HP:0004298
29 overgrowth 31 HP:0001548
30 calvarial skull defect 31 HP:0001362

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Nose:
wide nasal bridge

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Feet:
talipes equinovarus

Head And Neck Ears:
posteriorly rotated ears

Growth Other:
short-limbed dwarfism

Chest External Features:
small chest

Skeletal:
chondroosseous morphology notable for short, irregular chondrocyte columns, large, unfused calcospherites, perichondral bone overgrowth and patchy, mucoid degeneration of resting cartilage

Head And Neck Face:
flat face

Head And Neck Mouth:
micrognathia
small mouth

Respiratory Lung:
pulmonary hypoplasia

Skeletal Spine:
anisospondyly
dyssegmental dysplasia

Abdomen External Features:
two vessel cord

Head And Neck Head:
occipital skull defect

Skeletal Limbs:
short, bent long bones

Clinical features from OMIM®:

224410 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Dyssegmental Dysplasia, Silverman-Handmaker Type:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.03 BMP2 CD44 CDH5 COL2A1 FGF13 HSPG2
2 immune system MP:0005387 9.87 BMP2 CD44 CDH5 COL2A1 HSPG2 SMAD2
3 craniofacial MP:0005382 9.8 BMP2 CDH5 COL2A1 HSPG2 SMAD2
4 digestive/alimentary MP:0005381 9.77 BMP2 CD44 COL2A1 HSPG2 SMAD2
5 mortality/aging MP:0010768 9.76 BMP2 CD44 CDH5 COL2A1 FGF13 HSPG2
6 liver/biliary system MP:0005370 9.73 CD44 CDH5 COL2A1 HSPG2 SMAD2 WWOX
7 nervous system MP:0003631 9.5 BMP2 CD44 COL2A1 FGF13 HSPG2 SMAD2
8 skeleton MP:0005390 9.1 BMP2 CD44 COL2A1 HSPG2 SMAD2 WWOX

Drugs & Therapeutics for Dyssegmental Dysplasia, Silverman-Handmaker Type

Search Clinical Trials , NIH Clinical Center for Dyssegmental Dysplasia, Silverman-Handmaker Type

Genetic Tests for Dyssegmental Dysplasia, Silverman-Handmaker Type

Anatomical Context for Dyssegmental Dysplasia, Silverman-Handmaker Type

MalaCards organs/tissues related to Dyssegmental Dysplasia, Silverman-Handmaker Type:

40
Eye, Bone, Prostate

Publications for Dyssegmental Dysplasia, Silverman-Handmaker Type

Articles related to Dyssegmental Dysplasia, Silverman-Handmaker Type:

(show all 16)
# Title Authors PMID Year
1
Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene. 54 61 6 57
11279527 2001
2
Dyssegmental dysplasias: clinical, radiographic, and morphologic evidence of heterogeneity. 57
3605216 1987
3
Dyssegmental dysplasia (report of two cases with a review of the literature). 57
4059934 1985
4
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. 61 54
11941538 2002
5
Knockdown of hspg2 is associated with abnormal mandibular joint formation and neural crest cell dysfunction in zebrafish. 61
33678174 2021
6
Deep Discrete Supervised Hashing. 61
30106725 2018
7
Dyssegmental dysplasia, Silverman-Handmaker type: A challenging antenatal diagnosis in a dizygotic twin pregnancy. 61
29526034 2018
8
Deficiency in perlecan/HSPG2 during bone development enhances osteogenesis and decreases quality of adult bone in mice. 61
24798737 2014
9
Quantifying cell migration distance as a contributing factor to the development of rectal toxicity after prostate radiotherapy. 61
24506615 2014
10
Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis. 61
23836246 2013
11
Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type. 61
20542149 2010
12
Patient satisfaction relating to implant treatment by undergraduate and postgraduate dental students--a pilot study. 61
19630938 2009
13
Dyssegmental dysplasia in a South African neonate. 61
18388778 2008
14
Schwartz-Jampel syndrome and perlecan deficiency. 61
16550923 2005
15
Dyssegmental dysplasia, Silverman-Handmaker type: unexpected role of perlecan in cartilage development. 61
11891676 2001
16
Dyssegmental dysplasia Silverman-Handmaker type in a consanguineous Druze Lebanese family: long term survival and documentation of the natural history. 61
9450878 1998

Variations for Dyssegmental Dysplasia, Silverman-Handmaker Type

ClinVar genetic disease variations for Dyssegmental Dysplasia, Silverman-Handmaker Type:

6 (show top 50) (show all 494)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HSPG2 HSPG2, 89-BP DUP, EX34 Duplication Pathogenic 14919 GRCh37:
GRCh38:
2 HSPG2 HSPG2, 7086G-A, +5 SNV Pathogenic 14920 GRCh37:
GRCh38:
3 HSPG2 HSPG2, 10328C-T SNV Pathogenic 14921 GRCh37:
GRCh38:
4 HSPG2 NM_005529.7(HSPG2):c.5173C>T (p.Arg1725Ter) SNV Pathogenic 1029968 GRCh37: 1:22186337-22186337
GRCh38: 1:21859844-21859844
5 HSPG2 NM_005529.7(HSPG2):c.1735G>T (p.Glu579Ter) SNV Pathogenic 1031539 GRCh37: 1:22207915-22207915
GRCh38: 1:21881422-21881422
6 HSPG2 NM_005529.7(HSPG2):c.253C>T (p.Arg85Ter) SNV Pathogenic 1031540 GRCh37: 1:22217179-22217179
GRCh38: 1:21890686-21890686
7 HSPG2 NM_005529.7(HSPG2):c.4192C>T (p.Gln1398Ter) SNV Pathogenic 1031541 GRCh37: 1:22198708-22198708
GRCh38: 1:21872215-21872215
8 HSPG2 NM_005529.7(HSPG2):c.5716C>T (p.Gln1906Ter) SNV Pathogenic 1031543 GRCh37: 1:22182154-22182154
GRCh38: 1:21855661-21855661
9 HSPG2 , LDLRAD2 NM_005529.7(HSPG2):c.12900-2A>C SNV Pathogenic 1034182 GRCh37: 1:22150214-22150214
GRCh38: 1:21823721-21823721
10 HSPG2 NM_005529.7(HSPG2):c.6437del (p.Pro2146fs) Deletion Likely pathogenic 930864 GRCh37: 1:22180688-22180688
GRCh38: 1:21854195-21854195
11 HSPG2 NM_005529.7(HSPG2):c.11671+1G>T SNV Likely pathogenic 800919 rs1373848573 GRCh37: 1:22157474-22157474
GRCh38: 1:21830981-21830981
12 HSPG2 NM_005529.7(HSPG2):c.958+14G>A SNV Conflicting interpretations of pathogenicity 295901 rs200930800 GRCh37: 1:22213899-22213899
GRCh38: 1:21887406-21887406
13 HSPG2 , LDLRAD2 NM_005529.7(HSPG2):c.12884G>A (p.Arg4295Gln) SNV Conflicting interpretations of pathogenicity 788284 rs537908254 GRCh37: 1:22150629-22150629
GRCh38: 1:21824136-21824136
14 HSPG2 NM_005529.7(HSPG2):c.1834G>A (p.Gly612Ser) SNV Uncertain significance 811995 rs768946900 GRCh37: 1:22207313-22207313
GRCh38: 1:21880820-21880820
15 HSPG2 NM_005529.7(HSPG2):c.3875A>G (p.Gln1292Arg) SNV Uncertain significance 804900 rs764233594 GRCh37: 1:22199503-22199503
GRCh38: 1:21873010-21873010
16 HSPG2 NM_005529.7(HSPG2):c.4040A>C (p.His1347Pro) SNV Uncertain significance 1029967 GRCh37: 1:22198860-22198860
GRCh38: 1:21872367-21872367
17 HSPG2 NM_005529.7(HSPG2):c.6972A>G (p.Thr2324=) SNV Uncertain significance 1029971 GRCh37: 1:22178318-22178318
GRCh38: 1:21851825-21851825
18 HSPG2 NM_005529.7(HSPG2):c.7775C>T (p.Pro2592Leu) SNV Uncertain significance 1029972 GRCh37: 1:22174549-22174549
GRCh38: 1:21848056-21848056
19 HSPG2 , LDLRAD2 NM_005529.7(HSPG2):c.12949G>A (p.Gly4317Ser) SNV Uncertain significance 1031537 GRCh37: 1:22150163-22150163
GRCh38: 1:21823670-21823670
20 HSPG2 NM_005529.7(HSPG2):c.1666A>T (p.Thr556Ser) SNV Uncertain significance 1031538 GRCh37: 1:22207984-22207984
GRCh38: 1:21881491-21881491
21 HSPG2 NM_005529.7(HSPG2):c.9476G>A (p.Arg3159Gln) SNV Uncertain significance 295759 rs140573963 GRCh37: 1:22167631-22167631
GRCh38: 1:21841138-21841138
22 HSPG2 NM_005529.7(HSPG2):c.6808G>A (p.Gly2270Arg) SNV Uncertain significance 295806 rs145091234 GRCh37: 1:22178643-22178643
GRCh38: 1:21852150-21852150
23 HSPG2 NM_005529.7(HSPG2):c.12195G>A (p.Pro4065=) SNV Uncertain significance 596005 rs573932867 GRCh37: 1:22155370-22155370
GRCh38: 1:21828877-21828877
24 HSPG2 NM_005529.7(HSPG2):c.10609G>A (p.Gly3537Arg) SNV Uncertain significance 876711 GRCh37: 1:22161283-22161283
GRCh38: 1:21834790-21834790
25 HSPG2 NM_005529.7(HSPG2):c.2335C>T (p.His779Tyr) SNV Uncertain significance 295880 rs149094407 GRCh37: 1:22206608-22206608
GRCh38: 1:21880115-21880115
26 HSPG2 NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His) SNV Uncertain significance 295756 rs149644947 GRCh37: 1:22166460-22166460
GRCh38: 1:21839967-21839967
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.12110G>T (p.Arg4037Leu) SNV Uncertain significance 876568 GRCh37: 1:22155455-22155455
GRCh38: 1:21828962-21828962
29 HSPG2 NM_005529.7(HSPG2):c.11077C>T (p.Arg3693Trp) SNV Uncertain significance 876667 GRCh37: 1:22159779-22159779
GRCh38: 1:21833286-21833286
30 HSPG2 NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg) SNV Uncertain significance 287524 rs142736845 GRCh37: 1:22191361-22191361
GRCh38: 1:21864868-21864868
31 HSPG2 NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg) SNV Uncertain significance 287524 rs142736845 GRCh37: 1:22191361-22191361
GRCh38: 1:21864868-21864868
32 HSPG2 NM_005529.7(HSPG2):c.6010C>T (p.Arg2004Cys) SNV Uncertain significance 295819 rs777591903 GRCh37: 1:22181464-22181464
GRCh38: 1:21854971-21854971
33 HSPG2 NM_005529.7(HSPG2):c.6002G>A (p.Arg2001Gln) SNV Uncertain significance 235528 rs368627489 GRCh37: 1:22181472-22181472
GRCh38: 1:21854979-21854979
34 HSPG2 NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn) SNV Uncertain significance 290055 rs146309392 GRCh37: 1:22176915-22176915
GRCh38: 1:21850422-21850422
35 HSPG2 NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn) SNV Uncertain significance 290055 rs146309392 GRCh37: 1:22176915-22176915
GRCh38: 1:21850422-21850422
36 HSPG2 NM_005529.7(HSPG2):c.10365C>T (p.Asn3455=) SNV Uncertain significance 295736 rs189103460 GRCh37: 1:22162121-22162121
GRCh38: 1:21835628-21835628
37 HSPG2 NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val) SNV Uncertain significance 284377 rs140954748 GRCh37: 1:22182333-22182333
GRCh38: 1:21855840-21855840
38 HSPG2 , LDLRAD2 NM_005529.7(HSPG2):c.12886G>C (p.Val4296Leu) SNV Uncertain significance 295702 rs144217842 GRCh37: 1:22150627-22150627
GRCh38: 1:21824134-21824134
39 HSPG2 NM_005529.7(HSPG2):c.9770G>A (p.Arg3257Gln) SNV Uncertain significance 295752 rs202018841 GRCh37: 1:22165983-22165983
GRCh38: 1:21839490-21839490
40 HSPG2 NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val) SNV Uncertain significance 284377 rs140954748 GRCh37: 1:22182333-22182333
GRCh38: 1:21855840-21855840
41 HSPG2 , LDLRAD2 NM_005529.7(HSPG2):c.13033G>A (p.Gly4345Arg) SNV Uncertain significance 447542 rs148788926 GRCh37: 1:22149952-22149952
GRCh38: 1:21823459-21823459
42 HSPG2 NM_005529.7(HSPG2):c.11001G>A (p.Thr3667=) SNV Uncertain significance 806081 rs147966644 GRCh37: 1:22159855-22159855
GRCh38: 1:21833362-21833362
43 HSPG2 NM_005529.7(HSPG2):c.9604G>A (p.Val3202Met) SNV Uncertain significance 874934 GRCh37: 1:22166420-22166420
GRCh38: 1:21839927-21839927
44 HSPG2 NM_005529.7(HSPG2):c.3196C>T (p.Arg1066Trp) SNV Uncertain significance 875670 GRCh37: 1:22202228-22202228
GRCh38: 1:21875735-21875735
45 HSPG2 NM_005529.7(HSPG2):c.12072C>T (p.Asp4024=) SNV Uncertain significance 295709 rs146167897 GRCh37: 1:22155493-22155493
GRCh38: 1:21829000-21829000
46 HSPG2 NM_005529.7(HSPG2):c.7826G>A (p.Arg2609Gln) SNV Uncertain significance 284844 rs147286334 GRCh37: 1:22174498-22174498
GRCh38: 1:21848005-21848005
47 HSPG2 NM_005529.7(HSPG2):c.5483G>T (p.Arg1828Leu) SNV Uncertain significance 295831 rs745892835 GRCh37: 1:22183600-22183600
GRCh38: 1:21857107-21857107
48 HSPG2 NM_005529.7(HSPG2):c.6541G>A (p.Ala2181Thr) SNV Uncertain significance 284845 rs143109401 GRCh37: 1:22179462-22179462
GRCh38: 1:21852969-21852969
49 HSPG2 NM_005529.7(HSPG2):c.11568C>T (p.Gly3856=) SNV Uncertain significance 295717 rs200221194 GRCh37: 1:22157578-22157578
GRCh38: 1:21831085-21831085
50 HSPG2 NM_005529.7(HSPG2):c.6927C>T (p.Tyr2309=) SNV Uncertain significance 295804 rs552716935 GRCh37: 1:22178363-22178363
GRCh38: 1:21851870-21851870

Expression for Dyssegmental Dysplasia, Silverman-Handmaker Type

Search GEO for disease gene expression data for Dyssegmental Dysplasia, Silverman-Handmaker Type.

Pathways for Dyssegmental Dysplasia, Silverman-Handmaker Type

Pathways related to Dyssegmental Dysplasia, Silverman-Handmaker Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.32 SMAD2 HSPG2 FGF13 COL2A1 CDH5 BMP2
2
Show member pathways
12.65 HSPG2 FGF13 COL2A1 BMP2
3
Show member pathways
12.11 HSPG2 COL2A1 CD44 BMP2
4 11.89 SMAD2 HSPG2 CD44
5
Show member pathways
11.63 HSPG2 COL2A1 CD44
6 11.26 COL2A1 CD44
7 11 HSPG2 COL2A1 CDH5 CD44 BMP2
8 10.99 COL2A1 CD44
9 10.64 COL2A1 BMP2
10 10.26 HSPG2 FGF13 COL2A1 CDH5 BMP2

GO Terms for Dyssegmental Dysplasia, Silverman-Handmaker Type

Biological processes related to Dyssegmental Dysplasia, Silverman-Handmaker Type according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.54 HSPG2 COL2A1 CD44
2 SMAD protein signal transduction GO:0060395 9.49 SMAD2 BMP2
3 inner ear development GO:0048839 9.48 COL2A1 BMP2
4 positive regulation of epithelial to mesenchymal transition GO:0010718 9.46 SMAD2 BMP2
5 chondrocyte differentiation GO:0002062 9.43 COL2A1 BMP2
6 skeletal system morphogenesis GO:0048705 9.4 WWOX COL2A1
7 cellular response to BMP stimulus GO:0071773 9.32 COL2A1 BMP2
8 positive regulation of BMP signaling pathway GO:0030513 9.26 SMAD2 CDH5
9 pericardium development GO:0060039 9.16 SMAD2 BMP2
10 proteoglycan metabolic process GO:0006029 8.96 COL2A1 BMP2
11 cartilage development GO:0051216 8.8 COL2A1 CD44 BMP2

Molecular functions related to Dyssegmental Dysplasia, Silverman-Handmaker Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SMAD binding GO:0046332 8.96 SMAD2 BMP2
2 BMP receptor binding GO:0070700 8.62 CDH5 BMP2

Sources for Dyssegmental Dysplasia, Silverman-Handmaker Type

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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