Ehlers-Danlos Syndrome, Beasley-Cohen Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Anatomical: Neuronal diseases Ear diseases Mental diseases

See all MalaCards categories (disease lists)

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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

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

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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 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

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

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

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

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

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

⁴⁰

Skin, Eye

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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	Beasley RP...Cohen MM	477010	1979

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Genes for Ehlers-Danlos Syndrome, Beasley-Cohen Type

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Variations for Ehlers-Danlos Syndrome, Beasley-Cohen Type

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Expression for Ehlers-Danlos Syndrome, Beasley-Cohen Type

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

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Pathways for Ehlers-Danlos Syndrome, Beasley-Cohen Type

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

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Ehlers-Danlos Syndrome, Beasley-Cohen Type

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

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

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Ehlers-Danlos Syndrome, Beasley-Cohen Type

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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics 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:

Publications for Ehlers-Danlos Syndrome, Beasley-Cohen Type

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Genes for Ehlers-Danlos Syndrome, Beasley-Cohen Type

Variations for Ehlers-Danlos Syndrome, Beasley-Cohen Type

Expression for Ehlers-Danlos Syndrome, Beasley-Cohen Type

Pathways for Ehlers-Danlos Syndrome, Beasley-Cohen Type

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

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