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 58 76 30 6
Edscll2 58 76
Classical-Like Ehlers-Danlos Syndrome Type 2 60
Aebp1-Related Ehlers-Danlos Syndrome 60
Classical-Like Eds Type 2 60
Aebp1-Related Eds 60
Cleds Type 2 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable features may be present


Classifications:



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

OMIM : 58 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)

MalaCards based summary : Ehlers-Danlos Syndrome, Classic-Like, 2, also known as edscll2, is related to ehlers-danlos syndrome, classic-like. 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 short neck and osteoarthritis

UniProtKB/Swiss-Prot : 76 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

Diseases in the Classic Ehlers-Danlos Syndrome family:

Ehlers-Danlos Syndrome, Classic Type, 1 Ehlers-Danlos Syndrome, Classic Type, 2
Ehlers-Danlos Syndrome, Classic-Like Ehlers-Danlos Syndrome, Classic-Like, 2

Diseases related to Ehlers-Danlos Syndrome, Classic-Like, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, classic-like 9.5 AEBP1 MIR4649

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

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

33 (showing 21, show less)
# Description HPO Frequency HPO Source Accession
1 short neck 33 HP:0000470
2 osteoarthritis 33 HP:0002758
3 inguinal hernia 33 HP:0000023
4 pes planus 33 HP:0001763
5 osteoporosis 33 HP:0000939
6 micrognathia 33 HP:0000347
7 webbed neck 33 HP:0000465
8 hip dislocation 33 HP:0002827
9 bruising susceptibility 33 HP:0000978
10 redundant skin 33 HP:0001582
11 hallux valgus 33 HP:0001822
12 hyperextensible skin 33 HP:0000974
13 shoulder dislocation 33 HP:0003834
14 squared iliac bones 33 HP:0003177
15 thoracic scoliosis 33 HP:0002943
16 knee dislocation 33 HP:0004976
17 bilateral ptosis 33 HP:0001488
18 atrophic scars 33 HP:0001075
19 thin eyebrow 33 HP:0045074
20 ventral hernia 33 HP:0002933
21 bursitis 33 HP:0025232

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Neck:
short neck
webbed neck

Abdomen Gastrointestinal:
inguinal hernia
ventral hernia
motility problems
bowel rupture

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

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

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 Ears:
large ears

Skeletal Hands:
finger contractures
dislocations of interphalangeal joints

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

Skeletal:
osteoarthritis
osteoporosis
severe osteopenia (in most patients)

Abdomen External Features:
umbilical hernia

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Heart:
mitral valve prolapse

Skeletal Pelvis:
squared iliac bones
shortened iliac bones

Head And Neck Eyes:
bilateral ptosis
thin eyebrows

Head And Neck Mouth:
high-arched palate

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

Cardiovascular Vascular:
dilated aortic root

Skin Nails Hair Skin Histology:
decreased dermal collagen

Muscle Soft Tissue:
recurrent cellulitis

Clinical features from OMIM:

618000

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 30 AEBP1

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

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

42
Skin, Bone

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

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

(showing 2, show less)
# Title Authors Year
1
Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome. ( 29606302 )
2018
2
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue. ( 27023906 )
2016

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

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

6 (showing 10, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 AEBP1 NM_001129.4(AEBP1): c.1630+1G> A single nucleotide variant Pathogenic rs369016031 GRCh37 Chromosome 7, 44150657: 44150657
2 AEBP1 NM_001129.4(AEBP1): c.1630+1G> A single nucleotide variant Pathogenic rs369016031 GRCh38 Chromosome 7, 44111058: 44111058
3 AEBP1 NM_001129.5(AEBP1): c.1743C> A (p.Cys581Ter) single nucleotide variant Likely pathogenic rs777647845 GRCh37 Chromosome 7, 44151132: 44151132
4 AEBP1 NM_001129.5(AEBP1): c.1743C> A (p.Cys581Ter) single nucleotide variant Likely pathogenic rs777647845 GRCh38 Chromosome 7, 44111533: 44111533
5 AEBP1 NM_001129.4(AEBP1): c.1470delC (p.Asn490Lysfs) deletion Pathogenic rs1554327449 GRCh37 Chromosome 7, 44150393: 44150393
6 AEBP1 NM_001129.4(AEBP1): c.1470delC (p.Asn490Lysfs) deletion Pathogenic rs1554327449 GRCh38 Chromosome 7, 44110794: 44110794
7 AEBP1 NM_001129.4(AEBP1): c.1320_1326delGACCCAG (p.Arg440Serfs) deletion Pathogenic rs1554327284 GRCh37 Chromosome 7, 44149865: 44149871
8 AEBP1 NM_001129.4(AEBP1): c.1320_1326delGACCCAG (p.Arg440Serfs) deletion Pathogenic rs1554327284 GRCh38 Chromosome 7, 44110266: 44110272
9 AEBP1 NM_001129.4(AEBP1): c.917dup (p.Tyr306Terfs) duplication Pathogenic rs1443187318 GRCh37 Chromosome 7, 44147660: 44147660
10 AEBP1 NM_001129.4(AEBP1): c.917dup (p.Tyr306Terfs) duplication Pathogenic rs1443187318 GRCh38 Chromosome 7, 44108061: 44108061

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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