Brachymesomelia-Renal Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Brachymesomelia-Renal Syndrome

MalaCards integrated aliases for Brachymesomelia-Renal Syndrome:

Name: Brachymesomelia-Renal Syndrome ⁵⁶ ⁵²

Brachymesomelia Renal Syndrome ⁵² ⁷¹

Severe Upper Limb Brachymesomelia, Glomerulocystic Renal Dysplasia, Cranial and Facial Abnormalities, Corneal Opacities ⁵²

Langer Nishino Yamaguchi Syndrome ⁵²

Characteristics:

OMIM:

⁵⁶

Inheritance:
isolated cases

HPO:

³¹

brachymesomelia-renal syndrome:
Inheritance sporadic

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 113470

MedGen ⁴¹ C1862084

SNOMED-CT via HPO ⁶⁸ 205170001 236423003 246802000 more

UMLS ⁷¹ C1862084

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Summaries for Brachymesomelia-Renal Syndrome

MalaCards based summary : Brachymesomelia-Renal Syndrome, also known as brachymesomelia renal syndrome, is related to renal dysplasia. Affiliated tissues include kidney, and related phenotypes are depressed nasal bridge and renal insufficiency

More information from OMIM: 113470

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Related Diseases for Brachymesomelia-Renal Syndrome

Diseases related to Brachymesomelia-Renal Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	renal dysplasia	10.3

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Symptoms & Phenotypes for Brachymesomelia-Renal Syndrome

Human phenotypes related to Brachymesomelia-Renal Syndrome:

³¹ (show all 13)

#	Description	HPO Source Accession
1	depressed nasal bridge ³¹	HP:0005280
2	renal insufficiency ³¹	HP:0000083
3	opacification of the corneal stroma ³¹	HP:0007759
4	micrognathia ³¹	HP:0000347
5	low-set ears ³¹	HP:0000369
6	blepharophimosis ³¹	HP:0000581
7	cutis marmorata ³¹	HP:0000965
8	hypoplasia of the radius ³¹	HP:0002984
9	single transverse palmar crease ³¹	HP:0000954
10	short palpebral fissure ³¹	HP:0012745
11	mesomelic arm shortening ³¹	HP:0005011
12	fibular hypoplasia ³¹	HP:0003038
13	ulnar bowing ³¹	HP:0003031

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Nose:
depressed nasal bridge

Head And Neck Ears:
low-set ears
prominent lobules

Genitourinary Kidneys:
renal failure
glomerulocystic dysplasia

Head And Neck Eyes:
short palpebral fissures
corneal opacities

Head And Neck Face:
micrognathia

Skin Nails Hair Skin:
cutis marmorata

Skeletal Limbs:
short radii
upper limb brachymesomelia
short, broad, radially bowed ulnae
lateral bowing proximal femur
lateral bowing distal tibiae
more

Skeletal Hands:
single transverse palmar creases

Clinical features from OMIM:

113470

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Drugs & Therapeutics for Brachymesomelia-Renal Syndrome

Search Clinical Trials , NIH Clinical Center for Brachymesomelia-Renal Syndrome

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Genetic Tests for Brachymesomelia-Renal Syndrome

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Anatomical Context for Brachymesomelia-Renal Syndrome

MalaCards organs/tissues related to Brachymesomelia-Renal Syndrome:

⁴⁰

Kidney

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Publications for Brachymesomelia-Renal Syndrome

Articles related to Brachymesomelia-Renal Syndrome:

#	Title	Authors	PMID	Year
1	Brachymesomelia-renal syndrome. ⁶¹ ⁵⁶	Langer LO...Gilbert EF	6859124	1983
2	Glomerulocystic kidney disease--nosological considerations. ⁶¹	Bernstein J	8398663	1993

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Genes for Brachymesomelia-Renal Syndrome

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Variations for Brachymesomelia-Renal Syndrome

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Expression for Brachymesomelia-Renal Syndrome

Search GEO for disease gene expression data for Brachymesomelia-Renal Syndrome.

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Pathways for Brachymesomelia-Renal Syndrome

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GO Terms for Brachymesomelia-Renal Syndrome

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