MCID: BRC111
MIFTS: 15

Brachymesomelia-Renal Syndrome

Categories: Nephrological diseases, Rare diseases

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:



External Ids:

OMIM 56 113470
MedGen 41 C1862084
UMLS 71 C1862084

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

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

Symptoms & Phenotypes for Brachymesomelia-Renal Syndrome

Human phenotypes related to Brachymesomelia-Renal Syndrome:

31 (show all 13)
# Description HPO Frequency 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

Drugs & Therapeutics for Brachymesomelia-Renal Syndrome

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

Genetic Tests for Brachymesomelia-Renal Syndrome

Anatomical Context for Brachymesomelia-Renal Syndrome

MalaCards organs/tissues related to Brachymesomelia-Renal Syndrome:

40
Kidney

Publications for Brachymesomelia-Renal Syndrome

Articles related to Brachymesomelia-Renal Syndrome:

# Title Authors PMID Year
1
Brachymesomelia-renal syndrome. 61 56
6859124 1983
2
Glomerulocystic kidney disease--nosological considerations. 61
8398663 1993

Variations for Brachymesomelia-Renal Syndrome

Expression for Brachymesomelia-Renal Syndrome

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

Pathways for Brachymesomelia-Renal Syndrome

GO Terms for Brachymesomelia-Renal Syndrome

Sources for Brachymesomelia-Renal Syndrome

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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