EDSCLL2
MCID: EHL089
MIFTS: 27

Ehlers-Danlos Syndrome, Classic-Like, 2 (EDSCLL2)

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ehlers-Danlos Syndrome, Classic-Like, 2

MalaCards integrated aliases for Ehlers-Danlos Syndrome, Classic-Like, 2:

Name: Ehlers-Danlos Syndrome, Classic-Like, 2 57 72 29 6
Edscll2 57 72
Classical-Like Ehlers-Danlos Syndrome Type 2 58
Ehlers-Danlos Syndrome Classic-Like 2 12
Aebp1-Related Ehlers-Danlos Syndrome 58
Classical-Like Eds Type 2 58
Aebp1-Related Eds 58
Cleds Type 2 58

Characteristics:

OMIM®:

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

Miscellaneous:
variable features may be present


HPO:

31
ehlers-danlos syndrome, classic-like, 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Ehlers-Danlos Syndrome, Classic-Like, 2

OMIM® : 57 Ehlers-Danlos syndrome classic-like-2 is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018). See 606408 for another classic-like EDS syndrome. For a discussion of the classification of EDS, see 130000. (618000) (Updated 05-Apr-2021)

MalaCards based summary : Ehlers-Danlos Syndrome, Classic-Like, 2, is also known as edscll2. An important gene associated with Ehlers-Danlos Syndrome, Classic-Like, 2 is AEBP1 (AE Binding Protein 1). Related phenotypes are osteopenia and pes planus

Disease Ontology : 12 An Ehlers-Danlos syndrome that has material basis in homozygous or compound heterozygous mutation in the AEBP1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations.

UniProtKB/Swiss-Prot : 72 Ehlers-Danlos syndrome, classic-like, 2: A variant form of Ehlers-Danlos syndrome, a connective tissue disorder. EDSCLL2 patients show severe joint and skin laxity, osteoporosis affecting the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Additional variable features include gastrointestinal and genitourinary manifestations (bowel rupture, gut dysmotility, cryptorchidism, and hernias), vascular complications (mitral valve prolapse and aortic root dilation), and skeletal anomalies. EDSCLL2 inheritance is autosomal recessive.

Related Diseases for Ehlers-Danlos Syndrome, Classic-Like, 2

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Classic-Like, 2

Human phenotypes related to Ehlers-Danlos Syndrome, Classic-Like, 2:

58 31 (show top 50) (show all 71)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000938
2 pes planus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001763
3 joint hypermobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001382
4 redundant skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001582
5 hallux valgus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001822
6 bruising susceptibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000978
7 hyperextensible skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000974
8 hammertoe 58 31 hallmark (90%) Very frequent (99-80%) HP:0001765
9 widened atrophic scar 58 31 hallmark (90%) Very frequent (99-80%) HP:0031158
10 umbilical hernia 58 31 frequent (33%) Frequent (79-30%) HP:0001537
11 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
12 mitral valve prolapse 58 31 frequent (33%) Frequent (79-30%) HP:0001634
13 hip dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0002827
14 prominent veins on trunk 58 31 frequent (33%) Frequent (79-30%) HP:0007457
15 knee dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0004976
16 ventral hernia 58 31 frequent (33%) Frequent (79-30%) HP:0002933
17 piezogenic pedal papules 58 31 frequent (33%) Frequent (79-30%) HP:0025509
18 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
19 diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000819
20 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
21 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
22 narrow palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000189
23 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
24 hypertriglyceridemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002155
25 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
26 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
27 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
28 webbed neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000465
29 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
30 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
31 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
32 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
33 kyphoscoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002751
34 arachnodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001166
35 sandal gap 58 31 occasional (7.5%) Occasional (29-5%) HP:0001852
36 periodontitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000704
37 cellulitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100658
38 varicose veins 58 31 occasional (7.5%) Occasional (29-5%) HP:0002619
39 sacral dimple 58 31 occasional (7.5%) Occasional (29-5%) HP:0000960
40 elbow dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0003042
41 keratoconjunctivitis sicca 58 31 occasional (7.5%) Occasional (29-5%) HP:0001097
42 misalignment of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000692
43 astigmatism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000483
44 shoulder dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0003834
45 aortic root aneurysm 58 31 occasional (7.5%) Occasional (29-5%) HP:0002616
46 pericardial effusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0001698
47 impaired temperature sensation 58 31 occasional (7.5%) Occasional (29-5%) HP:0010829
48 premature loss of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0006480
49 radioulnar dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0006439
50 thoracic scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002943

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Neck:
short neck
webbed neck

Abdomen External Features:
umbilical hernia

Skeletal:
osteoporosis
osteoarthritis
severe osteopenia (in most patients)

Skin Nails Hair Hair:
low posterior hairline

Skeletal Limbs:
shoulder dislocation
knee dislocation
severe joint laxity (in most patients)
generalized joint hypermobility (in most patients)
hip dislocation (in most patients)
more
Skin Nails Hair Skin:
atrophic scars
easy bruising
keloid formation
skin hyperextensibility, severe (in most patients)
excess skin (in most patients)
more
Head And Neck Eyes:
bilateral ptosis
thin eyebrows

Head And Neck Ears:
large ears

Skeletal Feet:
hammer toes
pes planus (in most patients)
hallux valgus (in most patients)

Head And Neck Teeth:
dental malalignment

Skin Nails Hair Skin Electron Microscopy:
irregular disrupted collagen fibrils ('collagen flowers')
moderate variation in collagen size
ragged appearance on longitudinal section

Abdomen Gastrointestinal:
inguinal hernia
ventral hernia
motility problems
bowel rupture

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Face:
micrognathia
sagging cheeks due to redundant skin

Cardiovascular Heart:
mitral valve prolapse

Skeletal Pelvis:
squared iliac bones
shortened iliac bones

Skeletal Spine:
thoracic scoliosis
klippel-feil anomaly
loss of normal lordotic curve
facet arthrosis
degenerative changes

Head And Neck Mouth:
high-arched palate

Skeletal Hands:
finger contractures
dislocations of interphalangeal joints

Cardiovascular Vascular:
dilated aortic root

Skin Nails Hair Skin Histology:
decreased dermal collagen

Muscle Soft Tissue:
recurrent cellulitis

Clinical features from OMIM®:

618000 (Updated 05-Apr-2021)

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Classic-Like, 2

Search Clinical Trials , NIH Clinical Center for Ehlers-Danlos Syndrome, Classic-Like, 2

Genetic Tests for Ehlers-Danlos Syndrome, Classic-Like, 2

Genetic tests related to Ehlers-Danlos Syndrome, Classic-Like, 2:

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Classic-Like, 2 29 AEBP1

Anatomical Context for Ehlers-Danlos Syndrome, Classic-Like, 2

Publications for Ehlers-Danlos Syndrome, Classic-Like, 2

Articles related to Ehlers-Danlos Syndrome, Classic-Like, 2:

# Title Authors PMID Year
1
Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome. 6 57
29606302 2018
2
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue. 6 57
27023906 2016
3
Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers-Danlos syndrome: The importance of phenotype-guided genetic testing. 61
32720758 2020
4
Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome. 61
30759870 2019

Variations for Ehlers-Danlos Syndrome, Classic-Like, 2

ClinVar genetic disease variations for Ehlers-Danlos Syndrome, Classic-Like, 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AEBP1 NM_001129.5(AEBP1):c.1470del (p.Asn490fs) Deletion Pathogenic 545023 rs1554327449 GRCh37: 7:44150393-44150393
GRCh38: 7:44110794-44110794
2 AEBP1 NM_001129.5(AEBP1):c.1320_1326del (p.Arg440fs) Deletion Pathogenic 545024 rs1554327284 GRCh37: 7:44149861-44149867
GRCh38: 7:44110262-44110268
3 AEBP1 NM_001129.5(AEBP1):c.917dup (p.Tyr306Ter) Duplication Pathogenic 545699 rs1443187318 GRCh37: 7:44147659-44147660
GRCh38: 7:44108060-44108061
4 AEBP1 NM_001129.5(AEBP1):c.253+1G>A SNV Pathogenic 997643 GRCh37: 7:44144518-44144518
GRCh38: 7:44104919-44104919
5 AEBP1 NM_001129.5(AEBP1):c.1783C>T (p.Arg595Ter) SNV Pathogenic 1030175 GRCh37: 7:44151172-44151172
GRCh38: 7:44111573-44111573
6 AEBP1 NM_001129.5(AEBP1):c.2853C>A (p.Tyr951Ter) SNV Pathogenic 1030176 GRCh37: 7:44153236-44153236
GRCh38: 7:44113637-44113637
7 AEBP1 NM_001129.5(AEBP1):c.1067G>A (p.Trp356Ter) SNV Pathogenic 1030177 GRCh37: 7:44148754-44148754
GRCh38: 7:44109155-44109155
8 AEBP1 NM_001129.5(AEBP1):c.1630+1G>A SNV Pathogenic 545021 rs369016031 GRCh37: 7:44150657-44150657
GRCh38: 7:44111058-44111058
9 AEBP1 NM_001129.5(AEBP1):c.1743C>A (p.Cys581Ter) SNV Likely pathogenic 545022 rs777647845 GRCh37: 7:44151132-44151132
GRCh38: 7:44111533-44111533
10 AEBP1 NM_001129.5(AEBP1):c.3384G>C (p.Glu1128Asp) SNV Uncertain significance 1033308 GRCh37: 7:44153767-44153767
GRCh38: 7:44114168-44114168

Expression for Ehlers-Danlos Syndrome, Classic-Like, 2

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome, Classic-Like, 2.

Pathways for Ehlers-Danlos Syndrome, Classic-Like, 2

GO Terms for Ehlers-Danlos Syndrome, Classic-Like, 2

Sources for Ehlers-Danlos Syndrome, Classic-Like, 2

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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