MCID: DYS160
MIFTS: 25

Dyssegmental Dysplasia, Silverman-Handmaker Type

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal 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 59 13 55
Ddsh 57 53 75
Dyssegmental Dysplasia Silverman-Handmaker Type 53 75
Anisospondylic Camptomicromelic Dwarfism, Silverman-Handmaker Type 57
Anisospondylic Camptomicromelic Dwarfism Silverman-Handmaker Type 53
Dysplasia, Dyssegmental, Silverman-Handmaker Type 40
Dyssegmental Dwarfism, Silverman-Handmaker Type 57
Silverman-Handmaker Type Dyssegmental Dysplasia 12
Dyssegmental Dwarfism Silverman-Handmaker Type 53

Characteristics:

Orphanet epidemiological data:

59
dyssegmental dysplasia, silverman-handmaker type
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
neonatal lethal


HPO:

32
dyssegmental dysplasia, silverman-handmaker type:
Mortality/Aging neonatal death
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Dyssegmental Dysplasia, Silverman-Handmaker Type

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Dyssegmental Dysplasia, Silverman-Handmaker Type, is also known as ddsh. An important gene associated with Dyssegmental Dysplasia, Silverman-Handmaker Type is HSPG2 (Heparan Sulfate Proteoglycan 2). Affiliated tissues include bone, and related phenotypes are inguinal hernia and cleft palate

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

Description from OMIM: 224410

Related Diseases for Dyssegmental Dysplasia, Silverman-Handmaker Type

Symptoms & Phenotypes for Dyssegmental Dysplasia, Silverman-Handmaker Type

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Nose:
wide nasal bridge

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Skeletal Feet:
talipes equinovarus

Respiratory Lung:
pulmonary hypoplasia

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 Mouth:
micrognathia
small mouth

Head And Neck Face:
flat face

Skeletal Spine:
anisospondyly
dyssegmental dysplasia

Head And Neck Ears:
posteriorly rotated ears

Abdomen External Features:
two vessel cord

Head And Neck Head:
occipital skull defect

Skeletal Limbs:
short, bent long bones


Clinical features from OMIM:

224410

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

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000023
2 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
3 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
4 depressed nasal ridge 59 32 frequent (33%) Frequent (79-30%) HP:0000457
5 blue sclerae 59 32 hallmark (90%) Very frequent (99-80%) HP:0000592
6 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774
7 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
8 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
9 umbilical hernia 59 32 frequent (33%) Frequent (79-30%) HP:0001537
10 atrial septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001631
11 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
12 abnormality of pelvic girdle bone morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0002644
13 anisospondyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002879
14 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
15 bowing of the long bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0006487
16 disproportionate short-limb short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008873
17 cryptorchidism 32 HP:0000028
18 narrow mouth 32 HP:0000160
19 malar flattening 32 HP:0000272
20 posteriorly rotated ears 32 HP:0000358
21 wide nasal bridge 32 HP:0000431
22 calvarial skull defect 32 HP:0001362
23 overgrowth 32 HP:0001548
24 talipes equinovarus 32 HP:0001762
25 pulmonary hypoplasia 32 HP:0002089
26 short long bone 32 HP:0003026
27 abnormality of the abdominal wall 32 HP:0004298
28 thoracic hypoplasia 32 HP:0005257
29 flat face 32 HP:0012368

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:

41
Bone

Publications for Dyssegmental Dysplasia, Silverman-Handmaker Type

Articles related to Dyssegmental Dysplasia, Silverman-Handmaker Type:

# Title Authors Year
1
Dyssegmental dysplasia, Silverman-Handmaker type: A challenging antenatal diagnosis in a dizygotic twin pregnancy. ( 29526034 )
2018
2
Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis. ( 23836246 )
2013
3
Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type. ( 20542149 )
2010
4
Dyssegmental dysplasia, Silverman-Handmaker type: unexpected role of perlecan in cartilage development. ( 11891676 )
2001
5
Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene. ( 11279527 )
2001
6
Dyssegmental dysplasia Silverman-Handmaker type in a consanguineous Druze Lebanese family: long term survival and documentation of the natural history. ( 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 539)
# Gene Variation Type Significance SNP ID Assembly Location
1 HSPG2 HSPG2, 89-BP DUP, EX34 duplication Pathogenic
2 HSPG2 HSPG2, 7086G-A, +5 single nucleotide variant Pathogenic
3 HSPG2 HSPG2, 10328C-T single nucleotide variant Pathogenic
4 HSPG2 NM_005529.6(HSPG2): c.1082C> A (p.Thr361Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs75467696 GRCh37 Chromosome 1, 22211941: 22211941
5 HSPG2 NM_005529.6(HSPG2): c.1082C> A (p.Thr361Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs75467696 GRCh38 Chromosome 1, 21885448: 21885448
6 HSPG2 NM_005529.6(HSPG2): c.1998+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs377228309 GRCh37 Chromosome 1, 22207140: 22207140
7 HSPG2 NM_005529.6(HSPG2): c.1998+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs377228309 GRCh38 Chromosome 1, 21880647: 21880647
8 HSPG2 NM_005529.6(HSPG2): c.2074G> A (p.Val692Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143669458 GRCh37 Chromosome 1, 22206977: 22206977
9 HSPG2 NM_005529.6(HSPG2): c.2074G> A (p.Val692Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143669458 GRCh38 Chromosome 1, 21880484: 21880484
10 HSPG2 NM_005529.6(HSPG2): c.3269G> A (p.Arg1090Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs78889849 GRCh37 Chromosome 1, 22202155: 22202155
11 HSPG2 NM_005529.6(HSPG2): c.3269G> A (p.Arg1090Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs78889849 GRCh38 Chromosome 1, 21875662: 21875662
12 HSPG2 NM_005529.6(HSPG2): c.3336C> T (p.Pro1112=) single nucleotide variant Conflicting interpretations of pathogenicity rs2228348 GRCh37 Chromosome 1, 22201462: 22201462
13 HSPG2 NM_005529.6(HSPG2): c.3336C> T (p.Pro1112=) single nucleotide variant Conflicting interpretations of pathogenicity rs2228348 GRCh38 Chromosome 1, 21874969: 21874969
14 HSPG2 NM_005529.6(HSPG2): c.4627-3delT deletion Conflicting interpretations of pathogenicity rs368983547 GRCh37 Chromosome 1, 22190709: 22190709
15 HSPG2 NM_005529.6(HSPG2): c.4627-3delT deletion Conflicting interpretations of pathogenicity rs368983547 GRCh38 Chromosome 1, 21864216: 21864216
16 HSPG2 NM_005529.6(HSPG2): c.5755C> T (p.Arg1919Cys) single nucleotide variant Benign/Likely benign rs2229474 GRCh37 Chromosome 1, 22182115: 22182115
17 HSPG2 NM_005529.6(HSPG2): c.5755C> T (p.Arg1919Cys) single nucleotide variant Benign/Likely benign rs2229474 GRCh38 Chromosome 1, 21855622: 21855622
18 HSPG2 NM_005529.6(HSPG2): c.5702-5G> A single nucleotide variant Benign rs2290498 GRCh37 Chromosome 1, 22182173: 22182173
19 HSPG2 NM_005529.6(HSPG2): c.5702-5G> A single nucleotide variant Benign rs2290498 GRCh38 Chromosome 1, 21855680: 21855680
20 HSPG2 NM_005529.6(HSPG2): c.7438C> T (p.Arg2480Trp) single nucleotide variant Uncertain significance rs143437991 GRCh37 Chromosome 1, 22176542: 22176542
21 HSPG2 NM_005529.6(HSPG2): c.7438C> T (p.Arg2480Trp) single nucleotide variant Uncertain significance rs143437991 GRCh38 Chromosome 1, 21850049: 21850049
22 HSPG2 NM_005529.6(HSPG2): c.10937G> A (p.Arg3646His) single nucleotide variant Conflicting interpretations of pathogenicity rs112062179 GRCh37 Chromosome 1, 22160001: 22160001
23 HSPG2 NM_005529.6(HSPG2): c.10937G> A (p.Arg3646His) single nucleotide variant Conflicting interpretations of pathogenicity rs112062179 GRCh38 Chromosome 1, 21833508: 21833508
24 HSPG2 NM_005529.6(HSPG2): c.11475C> T (p.Ile3825=) single nucleotide variant Uncertain significance rs111866498 GRCh37 Chromosome 1, 22157795: 22157795
25 HSPG2 NM_005529.6(HSPG2): c.11475C> T (p.Ile3825=) single nucleotide variant Uncertain significance rs111866498 GRCh38 Chromosome 1, 21831302: 21831302
26 HSPG2 NM_005529.6(HSPG2): c.4233C> T (p.Tyr1411=) single nucleotide variant Conflicting interpretations of pathogenicity rs745452577 GRCh37 Chromosome 1, 22192291: 22192291
27 HSPG2 NM_005529.6(HSPG2): c.4233C> T (p.Tyr1411=) single nucleotide variant Conflicting interpretations of pathogenicity rs745452577 GRCh38 Chromosome 1, 21865798: 21865798
28 HSPG2 NM_005529.6(HSPG2): c.2869A> C (p.Asn957His) single nucleotide variant Benign/Likely benign rs62618730 GRCh38 Chromosome 1, 21876363: 21876363
29 HSPG2 NM_005529.6(HSPG2): c.2869A> C (p.Asn957His) single nucleotide variant Benign/Likely benign rs62618730 GRCh37 Chromosome 1, 22202856: 22202856
30 HSPG2 NM_005529.6(HSPG2): c.12982G> A (p.Ala4328Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs114015043 GRCh37 Chromosome 1, 22150130: 22150130
31 HSPG2 NM_005529.6(HSPG2): c.12982G> A (p.Ala4328Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs114015043 GRCh38 Chromosome 1, 21823637: 21823637
32 HSPG2 NM_005529.6(HSPG2): c.10894C> T (p.Arg3632Ter) single nucleotide variant Pathogenic rs762281715 GRCh37 Chromosome 1, 22160044: 22160044
33 HSPG2 NM_005529.6(HSPG2): c.10894C> T (p.Arg3632Ter) single nucleotide variant Pathogenic rs762281715 GRCh38 Chromosome 1, 21833551: 21833551
34 HSPG2 NM_005529.6(HSPG2): c.8961C> T (p.Gly2987=) single nucleotide variant Uncertain significance rs369899077 GRCh37 Chromosome 1, 22168823: 22168823
35 HSPG2 NM_005529.6(HSPG2): c.8961C> T (p.Gly2987=) single nucleotide variant Uncertain significance rs369899077 GRCh38 Chromosome 1, 21842330: 21842330
36 HSPG2 NM_005529.6(HSPG2): c.5648C> T (p.Ala1883Val) single nucleotide variant Uncertain significance rs140954748 GRCh37 Chromosome 1, 22182333: 22182333
37 HSPG2 NM_005529.6(HSPG2): c.5648C> T (p.Ala1883Val) single nucleotide variant Uncertain significance rs140954748 GRCh38 Chromosome 1, 21855840: 21855840
38 HSPG2 NM_005529.6(HSPG2): c.8397T> G (p.Ser2799=) single nucleotide variant Uncertain significance rs186657949 GRCh37 Chromosome 1, 22172668: 22172668
39 HSPG2 NM_005529.6(HSPG2): c.8397T> G (p.Ser2799=) single nucleotide variant Uncertain significance rs186657949 GRCh38 Chromosome 1, 21846175: 21846175
40 HSPG2 NM_005529.6(HSPG2): c.4877G> A (p.Arg1626His) single nucleotide variant Conflicting interpretations of pathogenicity rs41311989 GRCh37 Chromosome 1, 22188328: 22188328
41 HSPG2 NM_005529.6(HSPG2): c.4877G> A (p.Arg1626His) single nucleotide variant Conflicting interpretations of pathogenicity rs41311989 GRCh38 Chromosome 1, 21861835: 21861835
42 HSPG2 NM_005529.6(HSPG2): c.8605G> C (p.Ala2869Pro) single nucleotide variant Uncertain significance rs139838884 GRCh37 Chromosome 1, 22170652: 22170652
43 HSPG2 NM_005529.6(HSPG2): c.8605G> C (p.Ala2869Pro) single nucleotide variant Uncertain significance rs139838884 GRCh38 Chromosome 1, 21844159: 21844159
44 HSPG2 NM_005529.6(HSPG2): c.7826G> A (p.Arg2609Gln) single nucleotide variant Uncertain significance rs147286334 GRCh37 Chromosome 1, 22174498: 22174498
45 HSPG2 NM_005529.6(HSPG2): c.7826G> A (p.Arg2609Gln) single nucleotide variant Uncertain significance rs147286334 GRCh38 Chromosome 1, 21848005: 21848005
46 HSPG2 NM_005529.6(HSPG2): c.6541G> A (p.Ala2181Thr) single nucleotide variant Uncertain significance rs143109401 GRCh37 Chromosome 1, 22179462: 22179462
47 HSPG2 NM_005529.6(HSPG2): c.6541G> A (p.Ala2181Thr) single nucleotide variant Uncertain significance rs143109401 GRCh38 Chromosome 1, 21852969: 21852969
48 HSPG2 NM_005529.6(HSPG2): c.6402G> A (p.Val2134=) single nucleotide variant Benign/Likely benign rs12742444 GRCh37 Chromosome 1, 22180723: 22180723
49 HSPG2 NM_005529.6(HSPG2): c.6402G> A (p.Val2134=) single nucleotide variant Benign/Likely benign rs12742444 GRCh38 Chromosome 1, 21854230: 21854230
50 HSPG2 NM_005529.6(HSPG2): c.3897G> A (p.Val1299=) single nucleotide variant Benign rs2229482 GRCh37 Chromosome 1, 22199245: 22199245

Expression for Dyssegmental Dysplasia, Silverman-Handmaker Type

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Pathways for Dyssegmental Dysplasia, Silverman-Handmaker Type

GO Terms for Dyssegmental Dysplasia, Silverman-Handmaker Type

Sources for Dyssegmental Dysplasia, Silverman-Handmaker Type

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