MCID: LMY010
MIFTS: 23

Leiomyomatosis, Diffuse, with Alport Syndrome

Categories: Rare diseases, Nephrological diseases

Aliases & Classifications for Leiomyomatosis, Diffuse, with Alport Syndrome

MalaCards integrated aliases for Leiomyomatosis, Diffuse, with Alport Syndrome:

Name: Leiomyomatosis, Diffuse, with Alport Syndrome 57 13
Leiomyomatosis, Esophageal and Vulval, with Nephropathy 57 53 29 73
Dl-Ats 57 53
Ats-Dl 57 53
Alport Syndrome and Diffuse Leiomyomatosis; Ats-Dl 57
Chromosome Xq22.3 Centromeric Deletion Syndrome 57
Alport Syndrome with Diffuse Leiomyomatosis 53
Alport Syndrome and Diffuse Leiomyomatosis 57
Diffuse Leiomyomatosis in Alport Syndrome 53

Characteristics:

OMIM:

57
Miscellaneous:
onset in childhood
renal failure in second or third decade

Inheritance:
x-linked


HPO:

32
leiomyomatosis, diffuse, with alport syndrome:
Inheritance x-linked inheritance


Classifications:



Summaries for Leiomyomatosis, Diffuse, with Alport Syndrome

MalaCards based summary : Leiomyomatosis, Diffuse, with Alport Syndrome, also known as leiomyomatosis, esophageal and vulval, with nephropathy, is related to alport syndrome, x-linked and leiomyomatosis, and has symptoms including constipation and dyspnea. An important gene associated with Leiomyomatosis, Diffuse, with Alport Syndrome is COL4A6 (Collagen Type IV Alpha 6 Chain). Affiliated tissues include kidney, and related phenotypes are proteinuria and nephropathy

Description from OMIM: 308940

Related Diseases for Leiomyomatosis, Diffuse, with Alport Syndrome

Diseases related to Leiomyomatosis, Diffuse, with Alport Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alport syndrome, x-linked 11.6
2 leiomyomatosis 10.4
3 aging 10.0

Symptoms & Phenotypes for Leiomyomatosis, Diffuse, with Alport Syndrome

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Genitourinary Kidneys:
proteinuria
glomerulonephropathy
hematuria, gross and microscopic
end-stage renal failure
thinning of the glomerular basement membrane (early in the disease)
more
Respiratory:
dyspnea
tracheobronchial leiomyomatosis
bronchial irritation

Head And Neck Eyes:
cataracts
anterior lenticonus

Abdomen Gastrointestinal:
dysphagia
constipation
esophageal leiomyomatosis

Laboratory Abnormalities:
proteinuria
hematuria, gross and microscopic

Head And Neck Ears:
deafness, sensorineural, especially affecting high frequencies

Genitourinary External Genitalia Female:
genital leiomyomatosis


Clinical features from OMIM:

308940

Human phenotypes related to Leiomyomatosis, Diffuse, with Alport Syndrome:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 proteinuria 32 HP:0000093
2 nephropathy 32 HP:0000112
3 cataract 32 HP:0000518
4 hematuria 32 HP:0000790
5 lenticonus 32 HP:0001142
6 failure to thrive 32 HP:0001508
7 high-frequency sensorineural hearing impairment 32 HP:0001757
8 vomiting 32 HP:0002013
9 dysphagia 32 HP:0002015
10 constipation 32 HP:0002019
11 dyspnea 32 HP:0002094
12 stage 5 chronic kidney disease 32 HP:0003774
13 thickening of the glomerular basement membrane 32 HP:0004722
14 tracheobronchial leiomyomatosis 32 HP:0006524
15 diffuse leiomyomatosis 32 HP:0006756
16 anterior lenticonus 32 HP:0011501
17 diffuse glomerular basement membrane lamellation 32 HP:0030034

UMLS symptoms related to Leiomyomatosis, Diffuse, with Alport Syndrome:


constipation, dyspnea

Drugs & Therapeutics for Leiomyomatosis, Diffuse, with Alport Syndrome

Search Clinical Trials , NIH Clinical Center for Leiomyomatosis, Diffuse, with Alport Syndrome

Genetic Tests for Leiomyomatosis, Diffuse, with Alport Syndrome

Genetic tests related to Leiomyomatosis, Diffuse, with Alport Syndrome:

# Genetic test Affiliating Genes
1 Leiomyomatosis, Esophageal and Vulval, with Nephropathy 29 COL4A6

Anatomical Context for Leiomyomatosis, Diffuse, with Alport Syndrome

MalaCards organs/tissues related to Leiomyomatosis, Diffuse, with Alport Syndrome:

41
Kidney

Publications for Leiomyomatosis, Diffuse, with Alport Syndrome

Articles related to Leiomyomatosis, Diffuse, with Alport Syndrome:

# Title Authors Year
1
Alport syndrome with diffuse leiomyomatosis. ( 12784310 )
2003
2
Alport syndrome with diffuse leiomyomatosis. When and when not? ( 10362786 )
1999

Variations for Leiomyomatosis, Diffuse, with Alport Syndrome

Expression for Leiomyomatosis, Diffuse, with Alport Syndrome

Search GEO for disease gene expression data for Leiomyomatosis, Diffuse, with Alport Syndrome.

Pathways for Leiomyomatosis, Diffuse, with Alport Syndrome

GO Terms for Leiomyomatosis, Diffuse, with Alport Syndrome

Sources for Leiomyomatosis, Diffuse, with Alport Syndrome

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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