MCID: EHL070
MIFTS: 24

Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies

MalaCards integrated aliases for Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies:

Name: Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies 54 71
Edsp1, Xylosylprotein 4-Beta-Galactosyltransferase Deficiency, Xgpt Deficiency, Galactosyltransferase I Deficiency, Ehlers-Danlos Syndrome, Progeroid Type, 1 24
Xylosylprotein 4-Beta-Galactosyltransferase Deficiency 71
Defective Biosynthesis of Proteodermatan Sulfate 71
Ehlers-Danlos Syndrome, Progeroid Type, 1 71
Ehlers-Danlos Syndrome, Progeroid Type 1 24
Ehlers-Danlos Syndrome, Progeroid Form 69
Galactosyltransferase I Deficiency 71
Defective Biosynthesis of Pds 71
Xgpt Deficiency 71
Edssla 71
Edsp1 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
ehlers-danlos syndrome with short stature and limb anomalies:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies

OMIM : 54
This form of Ehlers-Danlos syndrome is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing. Significant developmental delay is not a consistent feature (Guo et al., 2013). (130070)

MalaCards based summary : Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies, also known as edsp1, xylosylprotein 4-beta-galactosyltransferase deficiency, xgpt deficiency, galactosyltransferase i deficiency, ehlers-danlos syndrome, progeroid type, 1, is related to spondylodysplastic ehlers-danlos syndrome and ehlers-danlos syndrome, progeroid type, 2, and has symptoms including short stature, failure to thrive and sparse scalp hair. An important gene associated with Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies is B4GALT7 (Beta-1,4-Galactosyltransferase 7). Affiliated tissues include skin, bone and eye.

UniProtKB/Swiss-Prot : 71 Ehlers-Danlos syndrome with short stature and limb anomalies: A variant form of Ehlers-Danlos syndrome characterized by short stature, skin hyperextensibility, moderate skin fragility, joint hypermobility principally in digits, developmental anomalies of the forearm bones and elbow, and bowing of extremities.

Related Diseases for Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies

Diseases related to Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 spondylodysplastic ehlers-danlos syndrome 11.4
2 ehlers-danlos syndrome, progeroid type, 2 11.2

Symptoms & Phenotypes for Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Neurologic- Central Nervous System:
hypotonia
psychomotor retardation, mild (in some patients)

Skeletal- Pelvis:
coxa valga

Head And Neck- Eyes:
prominent eyes
blue sclerae (rare)
hypertelorism (in some patients)
severe hypermetropia (in some patients)

Head And Neck- Face:
midface hypoplasia
small face
broad, flat forehead

Chest- External Features:
narrow chest

Head And Neck- Nose:
broad nasal bridge

Skeletal- Spine:
scoliosis (in some patients)

Skin Nails & Hair- Skin:
transverse palmar creases
loose, elastic skin
thin, atrophic scars
cutis gyrata of palms and soles
delayed wound healing

Head And Neck- Teeth:
poorly implanted teeth (in some patients)
cavity-prone teeth (in some patients)

Laboratory- Abnormalities:
galactosyltransferase i deficiency in fibroblasts

Growth- Other:
failure to thrive

Head And Neck- Ears:
low-set ears
absent ear lobes

Skeletal- Limbs:
joint laxity
radioulnar synostosis
bowing of long bones
genu recurvatum (in some patients)

Head And Neck- Mouth:
small mouth
cleft palate (rare)
protruding lips (in some patients)
bifid uvula (rare)

Chest- Ribs Sternum Clavicles And Scapulae:
pectus carinatum
short clavicles

Head And Neck- Head:
macrocephaly

Skeletal:
osteopenia
advanced bone age

Skeletal- Feet:
pes planus
talipes equinovarus (in some patients)
long, slender toes
talipes equinovalgus (in some patients)

Skeletal- Hands:
transverse palmar creases
long, slender fingers
phalangeal dislocation (in some patients)

Skin Nails & Hair- Hair:
sparse scalp hair (in some patients)


Clinical features from OMIM:

130070

Human phenotypes related to Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies:

32 (show all 25)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 failure to thrive 32 HP:0001508
3 sparse scalp hair 32 HP:0002209
4 coxa valga 32 HP:0002673
5 proptosis 32 HP:0000520
6 joint laxity 32 HP:0001388
7 global developmental delay 32 HP:0001263
8 narrow chest 32 HP:0000774
9 macrocephaly 32 HP:0000256
10 bifid uvula 32 HP:0000193
11 wide nasal bridge 32 HP:0000431
12 osteopenia 32 HP:0000938
13 radioulnar synostosis 32 HP:0002974
14 pes planus 32 HP:0001763
15 arachnodactyly 32 HP:0001166
16 muscular hypotonia 32 HP:0001252
17 small face 32 HP:0000274
18 short clavicles 32 HP:0000894
19 single transverse palmar crease 32 HP:0000954
20 atrophic scars 32 HP:0001075
21 narrow mouth 32 HP:0000160
22 absent earlobe 32 HP:0000387
23 palmoplantar cutis gyrata 32 HP:0007469
24 long toe 32 HP:0010511
25 slender toe 32 HP:0011308

UMLS symptoms related to Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies:


joint laxity

Drugs & Therapeutics for Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies

Search Clinical Trials , NIH Clinical Center for Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies

Genetic Tests for Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies

Genetic tests related to Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies:

id Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Progeroid Type 1 24 B4GALT7

Anatomical Context for Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies

MalaCards organs/tissues related to Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies:

39
Skin, Bone, Eye

Publications for Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies

Variations for Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies

UniProtKB/Swiss-Prot genetic disease variations for Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies:

71
id Symbol AA change Variation ID SNP ID
1 B4GALT7 p.Ala186Asp VAR_010293 rs121917817
2 B4GALT7 p.Leu206Pro VAR_010294 rs121917818

ClinVar genetic disease variations for Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 B4GALT7 NM_007255.2(B4GALT7): c.557C> A (p.Ala186Asp) single nucleotide variant Pathogenic rs121917817 GRCh37 Chromosome 5, 177034446: 177034446
2 B4GALT7 NM_007255.2(B4GALT7): c.617T> C (p.Leu206Pro) single nucleotide variant Pathogenic rs121917818 GRCh37 Chromosome 5, 177034506: 177034506
3 B4GALT7 NM_007255.2(B4GALT7): c.808C> T (p.Arg270Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28937869 GRCh37 Chromosome 5, 177035995: 177035995
4 B4GALT7 B4GALT7, LEU41PRO undetermined variant Pathogenic
5 B4GALT7 NM_007255.2(B4GALT7): c.421C> T (p.Arg141Trp) single nucleotide variant Pathogenic/Likely pathogenic rs187063864 GRCh38 Chromosome 5, 177607309: 177607309
6 B4GALT7 NM_007255.2(B4GALT7): c.277dupC (p.His93Profs) duplication Pathogenic rs879255634 GRCh38 Chromosome 5, 177604405: 177604405
7 B4GALT7 NM_007255.2(B4GALT7): c.641G> A (p.Cys214Tyr) single nucleotide variant Pathogenic rs753594601 GRCh38 Chromosome 5, 177608540: 177608540
8 B4GALT7 NM_007255.2(B4GALT7): c.38G> A (p.Trp13Ter) single nucleotide variant Likely pathogenic rs200503833 GRCh37 Chromosome 5, 177027249: 177027249

Expression for Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies.

Pathways for Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies

GO Terms for Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies

Sources for Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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