EDSSPD3
MCID: EHL083
MIFTS: 28

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 (EDSSPD3)

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

Aliases & Classifications for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3

MalaCards integrated aliases for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3:

Name: Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 58 76
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like 58 30 13 6 41 74
Scd-Eds 58 60 76
Edsspd3 58 76
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like; Scd-Eds 58
Slc39a13-Related Spondylodysplastic Ehlers-Danlos Syndrome 60
Ehlers-Danlos Syndrome-Like Spondylocheirodysplasia 76
Spondylocheirodysplastic Ehlers-Danlos Syndrome 60
Slc39a13-Related Spondylodysplastic Eds 60
Slc39a13-Related Speds 60
Speds-Slc39a13 60

Characteristics:

Orphanet epidemiological data:

60
slc39a13-related spondylodysplastic ehlers-danlos syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Miscellaneous:
waddling gait

Inheritance:
autosomal recessive


HPO:

33
ehlers-danlos syndrome, spondylodysplastic type, 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3

UniProtKB/Swiss-Prot : 76 Ehlers-Danlos syndrome, spondylodysplastic type, 3: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD3 is an autosomal recessive form characterized by a generalized skeletal dysplasia involving mainly the spine and striking clinical abnormalities of the hands, in addition to classic features of Ehlers-Danlos syndrome. Clinical features include postnatal growth retardation, moderate short stature, protuberant eyes with bluish sclerae, hands with finely wrinkled palms, atrophy of the thenar muscles, and tapering fingers. Radiologic features include mild to moderate platyspondyly, mild to moderate osteopenia of the spine, small ileum, flat proximal femoral epiphyses, short, wide femoral necks, and broad metaphyses (elbows, knees, wrists, and interphalangeal joints).

MalaCards based summary : Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3, also known as spondylocheirodysplasia, ehlers-danlos syndrome-like, is related to ehlers-danlos syndrome, and has symptoms including waddling gait and joint laxity (elbow). An important gene associated with Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 is SLC39A13 (Solute Carrier Family 39 Member 13). Affiliated tissues include skin, eye and bone, and related phenotypes are failure to thrive and skeletal dysplasia

OMIM : 58 Ehlers-Danlos syndrome spondylodysplastic type 3 is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features (Giunta et al., 2008). For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see 130070. (612350)

Related Diseases for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3

Diseases in the Spondylodysplastic Ehlers-Danlos Syndrome family:

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
B3galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome

Diseases related to Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome 10.1

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3

Human phenotypes related to Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3:

60 33 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
2 skeletal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002652
3 thin skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000963
4 bruising susceptibility 60 33 hallmark (90%) Very frequent (99-80%) HP:0000978
5 proptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000520
6 blue sclerae 60 33 hallmark (90%) Very frequent (99-80%) HP:0000592
7 hyperextensible skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000974
8 moderately short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0008848
9 osteopenia 60 33 frequent (33%) Frequent (79-30%) HP:0000938
10 abnormality of the metaphysis 60 33 frequent (33%) Frequent (79-30%) HP:0000944
11 platyspondyly 60 33 frequent (33%) Frequent (79-30%) HP:0000926
12 downslanted palpebral fissures 60 33 frequent (33%) Frequent (79-30%) HP:0000494
13 tapered finger 60 33 frequent (33%) Frequent (79-30%) HP:0001182
14 thenar muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003393
15 absent palmar crease 60 33 frequent (33%) Frequent (79-30%) HP:0010489
16 broad femoral neck 60 33 frequent (33%) Frequent (79-30%) HP:0006429
17 flat capital femoral epiphysis 60 33 frequent (33%) Frequent (79-30%) HP:0003370
18 short femoral neck 60 33 frequent (33%) Frequent (79-30%) HP:0100864
19 flexion contracture 60 33 occasional (7.5%) Occasional (29-5%) HP:0001371
20 high palate 33 HP:0000218
21 dental malocclusion 33 HP:0000689
22 pes planus 33 HP:0001763
23 short stature 33 HP:0004322
24 delayed eruption of teeth 33 HP:0000684
25 waddling gait 33 HP:0002515
26 joint laxity 33 HP:0001388
27 flattened epiphysis 60 Frequent (79-30%)
28 hypodontia 33 HP:0000668
29 camptodactyly of finger 33 HP:0100490
30 short metacarpal 33 HP:0010049
31 bifid uvula 33 HP:0000193
32 prominent superficial veins 33 HP:0001015
33 short phalanx of finger 33 HP:0009803
34 irregular vertebral endplates 33 HP:0003301
35 metaphyseal widening 33 HP:0003016
36 cigarette-paper scars 33 HP:0001073
37 joint contracture of the hand 33 HP:0009473

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Mouth:
high palate
bifid uvula

Skeletal Feet:
pes planus

Skin Nails Hair Skin:
thin skin
cigarette-paper scars
easy bruisability
delayed wound healing
hyperelastic skin
more
Skeletal Hands:
thenar muscle atrophy
short metacarpals
short phalanges
finger contractures
small joint laxity
more
Skeletal Limbs:
joint laxity (elbow)
widened metaphyses (elbows and knees)

Growth Height:
short stature, moderate

Growth Weight:
birthweight at or below 3rd centile

Skeletal Spine:
osteopenia
platyspondyly
irregular endplates

Head And Neck Teeth:
delayed eruption of teeth
hypodontia
malocclusion

Head And Neck Eyes:
blue sclerae
downslanting palpebral fissures
protuberant eyes
corneal diameter, normal

Muscle Soft Tissue:
thenar muscle atrophy
hypothenar muscle atrophy

Skeletal Pelvis:
small ilia
short, wide femoral neck
mildly flattened proximal femoral epiphyses

Growth Other:
growth retardation, postnatal

Laboratory Abnormalities:
lysyl pyridinoline/hydroxylysyl pyridinoline (lp/hp) ratio approximately 1
normal lysyl hydroxylase activity
normal prolyl 4-hydroxylase activity

Clinical features from OMIM:

612350

UMLS symptoms related to Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3:


waddling gait, joint laxity (elbow)

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3

Search Clinical Trials , NIH Clinical Center for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3

Genetic Tests for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3

Genetic tests related to Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3:

# Genetic test Affiliating Genes
1 Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like 30 SLC39A13

Anatomical Context for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3

MalaCards organs/tissues related to Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3:

42
Skin, Eye, Bone

Publications for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3

Articles related to Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3:

# Title Authors Year
1
Molecular pathogenesis of spondylocheirodysplastic Ehlers-Danlos syndrome caused by mutant ZIP13 proteins. ( 25007800 )
2014
2
Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) and the mutant zinc transporter ZIP13. ( 26942106 )
2014
3
Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13. ( 18513683 )
2008
4
The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways. ( 18985159 )
2008

Variations for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3

ClinVar genetic disease variations for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3:

6 (show all 31)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC39A13 SLC39A13, 9-BP DEL, NT483 deletion Pathogenic
2 SLC39A13 NM_001128225.2(SLC39A13): c.221G> A (p.Gly74Asp) single nucleotide variant Pathogenic rs121434363 GRCh37 Chromosome 11, 47431866: 47431866
3 SLC39A13 NM_001128225.2(SLC39A13): c.221G> A (p.Gly74Asp) single nucleotide variant Pathogenic rs121434363 GRCh38 Chromosome 11, 47410315: 47410315
4 SLC39A13 NM_152264.4(SLC39A13): c.398C> T (p.Thr133Met) single nucleotide variant Conflicting interpretations of pathogenicity rs140574574 GRCh37 Chromosome 11, 47433573: 47433573
5 SLC39A13 NM_152264.4(SLC39A13): c.398C> T (p.Thr133Met) single nucleotide variant Conflicting interpretations of pathogenicity rs140574574 GRCh38 Chromosome 11, 47412022: 47412022
6 SLC39A13 NM_152264.4(SLC39A13): c.439C> G (p.Gln147Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs148291843 GRCh37 Chromosome 11, 47433920: 47433920
7 SLC39A13 NM_152264.4(SLC39A13): c.439C> G (p.Gln147Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs148291843 GRCh38 Chromosome 11, 47412369: 47412369
8 SLC39A13 NM_152264.4(SLC39A13): c.119G> A (p.Arg40Gln) single nucleotide variant Benign rs35741412 GRCh37 Chromosome 11, 47431764: 47431764
9 SLC39A13 NM_152264.4(SLC39A13): c.119G> A (p.Arg40Gln) single nucleotide variant Benign rs35741412 GRCh38 Chromosome 11, 47410213: 47410213
10 SLC39A13 NM_152264.4(SLC39A13): c.640A> G (p.Ile214Val) single nucleotide variant Uncertain significance rs750123189 GRCh37 Chromosome 11, 47435053: 47435053
11 SLC39A13 NM_152264.4(SLC39A13): c.640A> G (p.Ile214Val) single nucleotide variant Uncertain significance rs750123189 GRCh38 Chromosome 11, 47413502: 47413502
12 SLC39A13 NM_152264.4(SLC39A13): c.78C> A (p.Leu26=) single nucleotide variant Likely benign rs140844921 GRCh37 Chromosome 11, 47431723: 47431723
13 SLC39A13 NM_152264.4(SLC39A13): c.78C> A (p.Leu26=) single nucleotide variant Likely benign rs140844921 GRCh38 Chromosome 11, 47410172: 47410172
14 SLC39A13 NM_152264.4(SLC39A13): c.615C> G (p.Pro205=) single nucleotide variant Likely benign rs147495812 GRCh37 Chromosome 11, 47435028: 47435028
15 SLC39A13 NM_152264.4(SLC39A13): c.615C> G (p.Pro205=) single nucleotide variant Likely benign rs147495812 GRCh38 Chromosome 11, 47413477: 47413477
16 SLC39A13 NM_152264.4(SLC39A13): c.635G> A (p.Arg212Gln) single nucleotide variant Uncertain significance rs200490683 GRCh38 Chromosome 11, 47413497: 47413497
17 SLC39A13 NM_152264.4(SLC39A13): c.635G> A (p.Arg212Gln) single nucleotide variant Uncertain significance rs200490683 GRCh37 Chromosome 11, 47435048: 47435048
18 SLC39A13 NM_152264.4(SLC39A13): c.736A> G (p.Ile246Val) single nucleotide variant Uncertain significance rs767784704 GRCh37 Chromosome 11, 47435976: 47435976
19 SLC39A13 NM_152264.4(SLC39A13): c.736A> G (p.Ile246Val) single nucleotide variant Uncertain significance rs767784704 GRCh38 Chromosome 11, 47414425: 47414425
20 SLC39A13 NM_152264.4(SLC39A13): c.83G> A (p.Gly28Glu) single nucleotide variant Benign rs2010519 GRCh38 Chromosome 11, 47410177: 47410177
21 SLC39A13 NM_152264.4(SLC39A13): c.83G> A (p.Gly28Glu) single nucleotide variant Benign rs2010519 GRCh37 Chromosome 11, 47431728: 47431728
22 SLC39A13 NM_152264.4(SLC39A13): c.492G> T (p.Ala164=) single nucleotide variant Likely benign rs149634596 GRCh37 Chromosome 11, 47433973: 47433973
23 SLC39A13 NM_152264.4(SLC39A13): c.492G> T (p.Ala164=) single nucleotide variant Likely benign rs149634596 GRCh38 Chromosome 11, 47412422: 47412422
24 SLC39A13 NM_152264.4(SLC39A13): c.767T> C (p.Leu256Pro) single nucleotide variant Uncertain significance rs924156969 GRCh37 Chromosome 11, 47436007: 47436007
25 SLC39A13 NM_152264.4(SLC39A13): c.767T> C (p.Leu256Pro) single nucleotide variant Uncertain significance rs924156969 GRCh38 Chromosome 11, 47414456: 47414456
26 SLC39A13 NM_152264.4(SLC39A13): c.1053G> A (p.Ala351=) single nucleotide variant Benign rs576702857 GRCh37 Chromosome 11, 47436872: 47436872
27 SLC39A13 NM_152264.4(SLC39A13): c.1053G> A (p.Ala351=) single nucleotide variant Benign rs576702857 GRCh38 Chromosome 11, 47415321: 47415321
28 SLC39A13 NM_152264.4(SLC39A13): c.185G> C (p.Gly62Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 47410279: 47410279
29 SLC39A13 NM_152264.4(SLC39A13): c.185G> C (p.Gly62Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 47431830: 47431830
30 SLC39A13 NM_152264.4(SLC39A13): c.265A> G (p.Ile89Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 47410359: 47410359
31 SLC39A13 NM_152264.4(SLC39A13): c.265A> G (p.Ile89Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 47431910: 47431910

Expression for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3.

Pathways for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3

GO Terms for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3

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