MCID: EHL089
MIFTS: 16

Ehlers-Danlos Syndrome, Classic-Like, 2

Categories: Genetic diseases, Bone diseases, Skin diseases, Fetal diseases, Oral diseases, Rare 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 6
Edscll2 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable features may be present


Classifications:



External Ids:

OMIM 57 618000

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)

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.

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

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

Symptoms via clinical synopsis from OMIM:

57
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
Head And Neck Eyes:
bilateral ptosis
thin eyebrows

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

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

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Cardiovascular Heart:
mitral valve prolapse

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 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

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

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

41
Skin, Bone

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

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

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

6
# 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_001129.4(AEBP1): c.1743C> A (p.Cys581Ter) single nucleotide variant Pathogenic rs777647845 GRCh37 Chromosome 7, 44151132: 44151132
4 AEBP1 NM_001129.4(AEBP1): c.1743C> A (p.Cys581Ter) single nucleotide variant Pathogenic rs777647845 GRCh38 Chromosome 7, 44111533: 44111533
5 AEBP1 NM_001129.4(AEBP1): c.1470delC (p.Asn490Lysfs) deletion Pathogenic GRCh37 Chromosome 7, 44150393: 44150393
6 AEBP1 NM_001129.4(AEBP1): c.1470delC (p.Asn490Lysfs) deletion Pathogenic GRCh38 Chromosome 7, 44110794: 44110794
7 AEBP1 NM_001129.4(AEBP1): c.1320_1326delGACCCAG (p.Arg440Serfs) deletion Pathogenic GRCh37 Chromosome 7, 44149865: 44149871
8 AEBP1 NM_001129.4(AEBP1): c.1320_1326delGACCCAG (p.Arg440Serfs) deletion Pathogenic GRCh38 Chromosome 7, 44110266: 44110272

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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