EDSSPD3
MCID: EHL083
MIFTS: 27

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 57 75
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like 57 29 13 6 40 73
Edsspd3 57 75
Scd-Eds 57 75
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like; Scd-Eds 57
Ehlers-Danlos Syndrome, Spondylocheirodysplastic Type 59
Ehlers-Danlos Syndrome-Like Spondylocheirodysplasia 75
Eds, Spondylocheirodysplastic Type 59

Characteristics:

Orphanet epidemiological data:

59
ehlers-danlos syndrome, spondylocheirodysplastic type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Miscellaneous:
waddling gait

Inheritance:
autosomal recessive


HPO:

32
ehlers-danlos syndrome, spondylodysplastic type, 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3

UniProtKB/Swiss-Prot : 75 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 osteopenia and failure to thrive

OMIM : 57 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

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

Symptoms via clinical synopsis from OMIM:

57
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 Pelvis:
small ilia
short, wide femoral neck
mildly flattened proximal femoral epiphyses

Growth Other:
growth retardation, postnatal

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

Growth Height:
short stature, moderate

Skeletal Limbs:
joint laxity (elbow)
widened metaphyses (elbows and knees)

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

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

59 32 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 59 32 frequent (33%) Frequent (79-30%) HP:0000938
2 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
3 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
4 flexion contracture 59 32 occasional (7.5%) Occasional (29-5%) HP:0001371
5 abnormality of the metaphysis 59 32 frequent (33%) Frequent (79-30%) HP:0000944
6 platyspondyly 59 32 frequent (33%) Frequent (79-30%) HP:0000926
7 thin skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000963
8 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
9 bruising susceptibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000978
10 proptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000520
11 blue sclerae 59 32 hallmark (90%) Very frequent (99-80%) HP:0000592
12 hyperextensible skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000974
13 tapered finger 59 32 frequent (33%) Frequent (79-30%) HP:0001182
14 thenar muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003393
15 absent palmar crease 59 32 frequent (33%) Frequent (79-30%) HP:0010489
16 moderately short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008848
17 broad femoral neck 59 32 frequent (33%) Frequent (79-30%) HP:0006429
18 flat capital femoral epiphysis 59 32 frequent (33%) Frequent (79-30%) HP:0003370
19 short femoral neck 59 32 frequent (33%) Frequent (79-30%) HP:0100864
20 high palate 32 HP:0000218
21 dental malocclusion 32 HP:0000689
22 pes planus 32 HP:0001763
23 short stature 32 HP:0004322
24 delayed eruption of teeth 32 HP:0000684
25 waddling gait 32 HP:0002515
26 joint laxity 32 HP:0001388
27 flattened epiphysis 59 Frequent (79-30%)
28 hypodontia 32 HP:0000668
29 camptodactyly of finger 32 HP:0100490
30 short metacarpal 32 HP:0010049
31 bifid uvula 32 HP:0000193
32 prominent superficial veins 32 HP:0001015
33 short phalanx of finger 32 HP:0009803
34 irregular vertebral endplates 32 HP:0003301
35 cigarette-paper scars 32 HP:0001073
36 metaphyseal widening 32 HP:0003016
37 joint contracture of the hand 32 HP:0009473

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 29 SLC39A13

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

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

41
Skin, Eye, Bone

Publications for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3

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/Likely benign rs35741412 GRCh37 Chromosome 11, 47431764: 47431764
9 SLC39A13 NM_152264.4(SLC39A13): c.119G> A (p.Arg40Gln) single nucleotide variant Benign/Likely 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 GRCh38 Chromosome 11, 47413477: 47413477
15 SLC39A13 NM_152264.4(SLC39A13): c.615C> G (p.Pro205=) single nucleotide variant Likely benign rs147495812 GRCh37 Chromosome 11, 47435028: 47435028
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 GRCh38 Chromosome 11, 47412422: 47412422
23 SLC39A13 NM_152264.4(SLC39A13): c.492G> T (p.Ala164=) single nucleotide variant Likely benign rs149634596 GRCh37 Chromosome 11, 47433973: 47433973
24 SLC39A13 NM_152264.4(SLC39A13): c.767T> C (p.Leu256Pro) single nucleotide variant Uncertain significance rs924156969 GRCh38 Chromosome 11, 47414456: 47414456
25 SLC39A13 NM_152264.4(SLC39A13): c.767T> C (p.Leu256Pro) single nucleotide variant Uncertain significance rs924156969 GRCh37 Chromosome 11, 47436007: 47436007
26 SLC39A13 NM_152264.4(SLC39A13): c.1053G> A (p.Ala351=) single nucleotide variant Benign rs576702857 GRCh38 Chromosome 11, 47415321: 47415321
27 SLC39A13 NM_152264.4(SLC39A13): c.1053G> A (p.Ala351=) single nucleotide variant Benign rs576702857 GRCh37 Chromosome 11, 47436872: 47436872
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 rs754729494 GRCh38 Chromosome 11, 47410359: 47410359
31 SLC39A13 NM_152264.4(SLC39A13): c.265A> G (p.Ile89Val) single nucleotide variant Uncertain significance rs754729494 GRCh37 Chromosome 11, 47431910: 47431910

Expression for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3

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Pathways for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3

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

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