MCID: MYC060
MIFTS: 14

Mycophenolate Mofetil Embryopathy malady

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Mycophenolate Mofetil Embryopathy

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Sources:
30ICD10 via Orphanet, 53Orphanet
See all MalaCards sources

Aliases & Descriptions for Mycophenolate Mofetil Embryopathy:

Name: Mycophenolate Mofetil Embryopathy 53
 
Mmf Embryopathy 53

Characteristics:

Orphanet epidemiological data:

53
mycophenolate mofetil embryopathy:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age

Classifications:



External Ids:

Orphanet53 ORPHA268249
ICD10 via Orphanet30 Q86.8

Summaries for Mycophenolate Mofetil Embryopathy

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MalaCards based summary: Mycophenolate Mofetil Embryopathy, is also known as mmf embryopathy, and has symptoms including atresia of the external auditory canal, oral cleft and hypertelorism. Affiliated tissues include kidney and eye.

Related Diseases for Mycophenolate Mofetil Embryopathy

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Symptoms for Mycophenolate Mofetil Embryopathy

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Human phenotypes related to Mycophenolate Mofetil Embryopathy:

 63 53 (show all 37)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 atresia of the external auditory canal63 53 hallmark (90%) Very frequent (99-80%) HP:0000413
2 oral cleft63 53 typical (50%) Frequent (79-30%) HP:0000202
3 hypertelorism63 53 typical (50%) Frequent (79-30%) HP:0000316
4 micrognathia63 53 typical (50%) Frequent (79-30%) HP:0000347
5 hearing impairment63 53 typical (50%) Frequent (79-30%) HP:0000365
6 visual impairment63 typical (50%) HP:0000505
7 chorioretinal coloboma63 53 typical (50%) Frequent (79-30%) HP:0000567
8 iris coloboma63 53 typical (50%) Frequent (79-30%) HP:0000612
9 hypoplastic toenails63 53 typical (50%) Frequent (79-30%) HP:0001800
10 aplasia/hypoplasia affecting the eye63 typical (50%) HP:0008056
11 hydrocephalus63 53 occasional (7.5%) Occasional (29-5%) HP:0000238
12 cleft eyelid63 53 occasional (7.5%) Occasional (29-5%) HP:0000625
13 congenital diaphragmatic hernia63 53 occasional (7.5%) Occasional (29-5%) HP:0000776
14 brachydactyly syndrome63 occasional (7.5%) HP:0001156
15 ventricular septal defect63 53 occasional (7.5%) Occasional (29-5%) HP:0001629
16 abnormality of the aorta63 occasional (7.5%) HP:0001679
17 hydrops fetalis63 53 occasional (7.5%) Occasional (29-5%) HP:0001789
18 foot polydactyly63 53 occasional (7.5%) Occasional (29-5%) HP:0001829
19 facial cleft63 53 occasional (7.5%) Occasional (29-5%) HP:0002006
20 tracheoesophageal fistula63 53 occasional (7.5%) Occasional (29-5%) HP:0002575
21 tracheomalacia63 53 occasional (7.5%) Occasional (29-5%) HP:0002779
22 abnormal form of the vertebral bodies63 occasional (7.5%) HP:0003312
23 midline defect of the nose63 occasional (7.5%) HP:0004122
24 aplasia/hypoplasia of the corpus callosum63 occasional (7.5%) HP:0007370
25 abnormal localization of kidney63 occasional (7.5%) HP:0100542
26 cognitive impairment63 occasional (7.5%) HP:0100543
27 ectopic kidney53 Occasional (29-5%)
28 microphthalmia53 Frequent (79-30%)
29 visual loss53 Frequent (79-30%)
30 intellectual disability, mild53 Occasional (29-5%)
31 agenesis of corpus callosum53 Occasional (29-5%)
32 coarctation of aorta53 Occasional (29-5%)
33 short palm53 Occasional (29-5%)
34 bifid thoracic vertebrae53 Occasional (29-5%)
35 microtia53 Very frequent (99-80%)
36 anotia53 Very frequent (99-80%)
37 bifid nose53 Occasional (29-5%)

Drugs & Therapeutics for Mycophenolate Mofetil Embryopathy

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Mycophenolate Mofetil Embryopathy

Genetic Tests for Mycophenolate Mofetil Embryopathy

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Anatomical Context for Mycophenolate Mofetil Embryopathy

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MalaCards organs/tissues related to Mycophenolate Mofetil Embryopathy:

35
Kidney, Eye

Animal Models for Mycophenolate Mofetil Embryopathy or affiliated genes

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Publications for Mycophenolate Mofetil Embryopathy

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Articles related to Mycophenolate Mofetil Embryopathy:

idTitleAuthorsYear
1
Mycophenolate mofetil embryopathy: A newly recognized teratogenic syndrome. (27639443)
2016
2
An additional patient with mycophenolate mofetil embryopathy: cardiac and facial analyses. (21594997)
2011
3
Tetrada of the possible mycophenolate mofetil embryopathy: a review. (19491002)
2009
4
Mycophenolate mofetil embryopathy may be dose and timing dependent. (18570296)
2008

Variations for Mycophenolate Mofetil Embryopathy

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Expression for genes affiliated with Mycophenolate Mofetil Embryopathy

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Search GEO for disease gene expression data for Mycophenolate Mofetil Embryopathy.

Pathways for genes affiliated with Mycophenolate Mofetil Embryopathy

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GO Terms for genes affiliated with Mycophenolate Mofetil Embryopathy

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Sources for Mycophenolate Mofetil Embryopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet