EDSCLL2
MCID: EHL089
MIFTS: 30

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

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Oral diseases, Rare diseases, Skin diseases
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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 73 28 5 38
Edscll2 57 73
Classical-Like Ehlers-Danlos Syndrome Type 2 58
Ehlers-Danlos Syndrome Classic-Like 2 11
Aebp1-Related Ehlers-Danlos Syndrome 58
Classical-Like Eds Type 2 58
Aebp1-Related Eds 58
Cleds Type 2 58

Characteristics:


Inheritance:

Ehlers-Danlos Syndrome, Classic-Like, 2: Autosomal recessive 57
Classical-Like Ehlers-Danlos Syndrome Type 2: Autosomal recessive 58

Prevelance:

Classical-Like Ehlers-Danlos Syndrome Type 2: <1/1000000 (Worldwide) 58

Age Of Onset:

Classical-Like Ehlers-Danlos Syndrome Type 2: Infancy,Neonatal 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
variable features may be present


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 24-Oct-2022)

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). Affiliated tissues include skin and bone, and related phenotypes are osteopenia and pes planus

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 A rare systemic disease characterized by generalized joint hypermobility with recurrent joint dislocations, redundant and hyperextensible skin with poor wound healing and abnormal scarring, easy bruising, and osteopenia/osteoporosis. Additional manifestations include hypotonia, delayed motor development, foot deformities, prominent superficial veins in the chest region, vascular complications (like mitral valve prolapse and aortic root dilation), hernias, dental anomalies, scoliosis, and facial dysmorphisms (like high palate, micrognathia, narrow palate). Mode of inheritance is autosomal recessive.

Disease Ontology: 11 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.

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 30 (show top 50) (show all 78)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000938
2 pes planus 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001763
3 joint hypermobility 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001382
4 redundant skin 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001582
5 hallux valgus 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001822
6 bruising susceptibility 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000978
7 hyperextensible skin 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000974
8 hammertoe 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001765
9 widened atrophic scar 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0031158
10 umbilical hernia 58 30 Very rare (1%) Frequent (79-30%)
HP:0001537
11 abnormal facial shape 58 30 Frequent (33%) Frequent (79-30%)
HP:0001999
12 mitral valve prolapse 58 30 Very rare (1%) Frequent (79-30%)
HP:0001634
13 hip dislocation 58 30 Very rare (1%) Frequent (79-30%)
HP:0002827
14 piezogenic pedal papules 58 30 Frequent (33%) Frequent (79-30%)
HP:0025509
15 prominent veins on trunk 58 30 Frequent (33%) Frequent (79-30%)
HP:0007457
16 knee dislocation 58 30 Very rare (1%) Frequent (79-30%)
HP:0004976
17 ventral hernia 58 30 Very rare (1%) Frequent (79-30%)
HP:0002933
18 high palate 58 30 Very rare (1%) Occasional (29-5%)
HP:0000218
19 diabetes mellitus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000819
20 global developmental delay 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001263
21 inguinal hernia 58 30 Very rare (1%) Occasional (29-5%)
HP:0000023
22 narrow palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000189
23 macrotia 58 30 Very rare (1%) Occasional (29-5%)
HP:0000400
24 hypertriglyceridemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002155
25 strabismus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000486
26 cryptorchidism 58 30 Very rare (1%) Occasional (29-5%)
HP:0000028
27 micrognathia 58 30 Very rare (1%) Occasional (29-5%)
HP:0000347
28 webbed neck 58 30 Very rare (1%) Occasional (29-5%)
HP:0000465
29 myopia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000545
30 pectus excavatum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000767
31 alopecia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001596
32 motor delay 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001270
33 kyphoscoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002751
34 arachnodactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001166
35 sandal gap 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001852
36 periodontitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000704
37 cellulitis 58 30 Very rare (1%) Occasional (29-5%)
HP:0100658
38 varicose veins 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002619
39 sacral dimple 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000960
40 elbow dislocation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003042
41 keratoconjunctivitis sicca 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001097
42 astigmatism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000483
43 aortic root aneurysm 58 30 Very rare (1%) Occasional (29-5%)
HP:0002616
44 pericardial effusion 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001698
45 impaired temperature sensation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010829
46 premature loss of teeth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006480
47 shoulder dislocation 58 30 Very rare (1%) Occasional (29-5%)
HP:0003834
48 radioulnar dislocation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006439
49 thoracic scoliosis 58 30 Very rare (1%) Occasional (29-5%)
HP:0002943
50 phalangeal dislocation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006243

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 Pelvis:
squared iliac bones
shortened iliac bones

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 Limbs:
shoulder dislocation
knee dislocation
severe joint laxity (in most patients)
generalized joint hypermobility (in most patients)
hip dislocation (in most patients)
more
Skeletal Spine:
thoracic scoliosis
degenerative changes
klippel-feil anomaly
loss of normal lordotic curve
facet arthrosis

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 24-Oct-2022)

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 28 AEBP1

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

Organs/tissues related to Ehlers-Danlos Syndrome, Classic-Like, 2:

MalaCards : Skin, Bone

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

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

# Title Authors PMID Year
1
A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings. 57 5
30548383 2019
2
Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome. 57 5
29606302 2018
3
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue. 57 5
27023906 2016
4
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. 62
32720758 2020
5
Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome. 62
30759870 2019

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

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

5 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AEBP1 NM_001129.5(AEBP1):c.1470del (p.Asn490fs) DEL Pathogenic
545023 rs1554327449 GRCh37: 7:44150393-44150393
GRCh38: 7:44110794-44110794
2 AEBP1 NM_001129.5(AEBP1):c.1320_1326del (p.Arg440fs) DEL Pathogenic
545024 rs1554327284 GRCh37: 7:44149861-44149867
GRCh38: 7:44110262-44110268
3 AEBP1 NM_001129.5(AEBP1):c.917dup (p.Tyr306Ter) DUP Pathogenic
545699 rs1443187318 GRCh37: 7:44147659-44147660
GRCh38: 7:44108060-44108061
4 AEBP1 NM_001129.5(AEBP1):c.2853C>A (p.Tyr951Ter) SNV Pathogenic
1030176 rs2096232673 GRCh37: 7:44153236-44153236
GRCh38: 7:44113637-44113637
5 AEBP1 NM_001129.5(AEBP1):c.1067G>A (p.Trp356Ter) SNV Pathogenic
1030177 rs2096226168 GRCh37: 7:44148754-44148754
GRCh38: 7:44109155-44109155
6 AEBP1 NM_001129.5(AEBP1):c.1630+1G>A SNV Pathogenic
545021 rs369016031 GRCh37: 7:44150657-44150657
GRCh38: 7:44111058-44111058
7 AEBP1 NM_001129.5(AEBP1):c.1743C>A (p.Cys581Ter) SNV Likely Pathogenic
545022 rs777647845 GRCh37: 7:44151132-44151132
GRCh38: 7:44111533-44111533
8 AEBP1 NM_001129.5(AEBP1):c.1141G>C (p.Glu381Gln) SNV Uncertain Significance
1328397 GRCh37: 7:44148931-44148931
GRCh38: 7:44109332-44109332
9 AEBP1 NM_001129.5(AEBP1):c.3384G>C (p.Glu1128Asp) SNV Uncertain Significance
1033308 rs913206509 GRCh37: 7:44153767-44153767
GRCh38: 7:44114168-44114168
10 AEBP1 NM_001129.5(AEBP1):c.2218-37dup DUP Benign
1188903 GRCh37: 7:44152119-44152120
GRCh38: 7:44112520-44112521
11 AEBP1 NM_001129.5(AEBP1):c.863-37dup DUP Benign
1189019 GRCh37: 7:44147567-44147568
GRCh38: 7:44107968-44107969
12 AEBP1 NM_001129.5(AEBP1):c.996A>G (p.Thr332=) SNV Benign
1188902 GRCh37: 7:44148553-44148553
GRCh38: 7:44108954-44108954
13 AEBP1 NM_001129.5(AEBP1):c.3397A>G (p.Lys1133Glu) SNV Benign
1188904 GRCh37: 7:44153780-44153780
GRCh38: 7:44114181-44114181
14 AEBP1 NM_001129.5(AEBP1):c.817C>A (p.Pro273Thr) SNV Benign
1189018 GRCh37: 7:44147485-44147485
GRCh38: 7:44107886-44107886

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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