MCID: EHL082
MIFTS: 13

Ehlers-Danlos Syndrome, Beasley-Cohen Type

Categories: Ear diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Ehlers-Danlos Syndrome, Beasley-Cohen Type

MalaCards integrated aliases for Ehlers-Danlos Syndrome, Beasley-Cohen Type:

Name: Ehlers-Danlos Syndrome, Beasley-Cohen Type 56
Ehlers-Danlos Syndrome with Mental Retardation, Deafness, and Cataract 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
ehlers-danlos syndrome, beasley-cohen type:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Beasley-Cohen Type

MalaCards based summary : Ehlers-Danlos Syndrome, Beasley-Cohen Type, is also known as ehlers-danlos syndrome with mental retardation, deafness, and cataract. Affiliated tissues include skin and eye, and related phenotypes are hearing impairment and cataract

More information from OMIM: 608763

Related Diseases for Ehlers-Danlos Syndrome, Beasley-Cohen Type

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Beasley-Cohen Type

Human phenotypes related to Ehlers-Danlos Syndrome, Beasley-Cohen Type:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 cataract 31 HP:0000518
3 intellectual disability 31 HP:0001249
4 inguinal hernia 31 HP:0000023
5 pes planus 31 HP:0001763
6 decreased muscle mass 31 HP:0003199
7 genu recurvatum 31 HP:0002816
8 joint laxity 31 HP:0001388
9 narrow face 31 HP:0000275
10 hip dislocation 31 HP:0002827
11 hyperextensible skin 31 HP:0000974
12 cigarette-paper scars 31 HP:0001073
13 narrow palpebral fissure 31 HP:0045025
14 bilateral microphthalmos 31 HP:0007633
15 excessive skin wrinkling on dorsum of hands and fingers 31 HP:0007407

Symptoms via clinical synopsis from OMIM:

56
Genitourinary External Genitalia Male:
inguinal hernia

Muscle Soft Tissue:
decreased muscle mass

Head And Neck Face:
narrow face

Skin Nails Hair Skin:
excessive skin wrinkling on dorsum of hands and fingers
skin hyperelasticity
cigarette paper scarring

Neurologic Central Nervous System:
mental retardation

Skeletal:
joint laxity (elbow, wrist, fingers)

Skeletal Feet:
pes planus

Skeletal Limbs:
genu recurvatum

Skeletal Pelvis:
hip dislocation

Head And Neck Ears:
hearing loss

Head And Neck Eyes:
cataracts
small eyes

Clinical features from OMIM:

608763

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Beasley-Cohen Type

Search Clinical Trials , NIH Clinical Center for Ehlers-Danlos Syndrome, Beasley-Cohen Type

Genetic Tests for Ehlers-Danlos Syndrome, Beasley-Cohen Type

Anatomical Context for Ehlers-Danlos Syndrome, Beasley-Cohen Type

MalaCards organs/tissues related to Ehlers-Danlos Syndrome, Beasley-Cohen Type:

40
Skin, Eye

Publications for Ehlers-Danlos Syndrome, Beasley-Cohen Type

Articles related to Ehlers-Danlos Syndrome, Beasley-Cohen Type:

# Title Authors PMID Year
1
A new presumably autosomal recessive form of the Ehlers-Danlos syndrome. 56
477010 1979

Variations for Ehlers-Danlos Syndrome, Beasley-Cohen Type

Expression for Ehlers-Danlos Syndrome, Beasley-Cohen Type

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome, Beasley-Cohen Type.

Pathways for Ehlers-Danlos Syndrome, Beasley-Cohen Type

GO Terms for Ehlers-Danlos Syndrome, Beasley-Cohen Type

Sources for Ehlers-Danlos Syndrome, Beasley-Cohen Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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