MCID: LMY010
MIFTS: 23

Leiomyomatosis, Diffuse, with Alport Syndrome

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Leiomyomatosis, Diffuse, with Alport Syndrome

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

Name: Leiomyomatosis, Diffuse, with Alport Syndrome 58 13
Leiomyomatosis, Esophageal and Vulval, with Nephropathy 58 54 30 74
Dl-Ats 58 54
Ats-Dl 58 54
Alport Syndrome and Diffuse Leiomyomatosis; Ats-Dl 58
Chromosome Xq22.3 Centromeric Deletion Syndrome 58
Alport Syndrome with Diffuse Leiomyomatosis 54
Alport Syndrome and Diffuse Leiomyomatosis 58
Diffuse Leiomyomatosis in Alport Syndrome 54

Characteristics:

OMIM:

58
Miscellaneous:
onset in childhood
renal failure in second or third decade

Inheritance:
x-linked


HPO:

33
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 leiomyomatosis and alport syndrome, and has symptoms including constipation and dyspnea. Affiliated tissues include kidney, and related phenotypes are failure to thrive and dysphagia

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 leiomyomatosis 10.5
2 alport syndrome 10.5
3 intravenous leiomyomatosis 10.2

Symptoms & Phenotypes for Leiomyomatosis, Diffuse, with Alport Syndrome

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

33 (show all 17)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 33 HP:0001508
2 dysphagia 33 HP:0002015
3 constipation 33 HP:0002019
4 cataract 33 HP:0000518
5 proteinuria 33 HP:0000093
6 nephropathy 33 HP:0000112
7 vomiting 33 HP:0002013
8 dyspnea 33 HP:0002094
9 hematuria 33 HP:0000790
10 diffuse leiomyomatosis 33 HP:0006756
11 stage 5 chronic kidney disease 33 HP:0003774
12 high-frequency sensorineural hearing impairment 33 HP:0001757
13 anterior lenticonus 33 HP:0011501
14 tracheobronchial leiomyomatosis 33 HP:0006524
15 thickening of the glomerular basement membrane 33 HP:0004722
16 lenticonus 33 HP:0001142
17 diffuse glomerular basement membrane lamellation 33 HP:0030034

Symptoms via clinical synopsis from OMIM:

58
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

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 30

Anatomical Context for Leiomyomatosis, Diffuse, with Alport Syndrome

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

42
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
3
Clinical-pathologic conference in thoracic surgery: Alport syndrome with diffuse leiomyomatosis. ( 10610420 )
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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