MCID: MYC060
MIFTS: 14

Mycophenolate Mofetil Embryopathy malady

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Mycophenolate Mofetil Embryopathy

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Sources:
52Orphanet, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Mycophenolate Mofetil Embryopathy:

Name: Mycophenolate Mofetil Embryopathy 52
 
Mmf Embryopathy 52

Characteristics:

Orphanet epidemiological data:

52
mycophenolate mofetil embryopathy:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age

Classifications:



External Ids:

Orphanet52 ORPHA268249
ICD10 via Orphanet29 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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Symptoms:

 52 (show all 28)
  • ectopic kidney
  • oral cleft
  • hydrocephalus
  • hypertelorism
  • micrognathia
  • hearing impairment
  • atresia of the external auditory canal
  • chorioretinal coloboma
  • microphthalmos
  • visual loss
  • iris coloboma
  • cleft eyelid
  • congenital diaphragmatic hernia
  • intellectual disability, mild
  • agenesis of corpus callosum
  • ventricular septal defect
  • coarctation of aorta
  • hydrops fetalis
  • hypoplastic toenails
  • foot polydactyly
  • facial cleft
  • tracheoesophageal fistula
  • tracheomalacia
  • short palm
  • bifid thoracic vertebrae
  • microtia
  • anotia
  • bifid nose

HPO human phenotypes related to Mycophenolate Mofetil Embryopathy:

(show all 26)
id Description Frequency HPO Source Accession
1 atresia of the external auditory canal hallmark (90%) HP:0000413
2 oral cleft typical (50%) HP:0000202
3 hypertelorism typical (50%) HP:0000316
4 micrognathia typical (50%) HP:0000347
5 hearing impairment typical (50%) HP:0000365
6 visual impairment typical (50%) HP:0000505
7 chorioretinal coloboma typical (50%) HP:0000567
8 iris coloboma typical (50%) HP:0000612
9 hypoplastic toenails typical (50%) HP:0001800
10 aplasia/hypoplasia affecting the eye typical (50%) HP:0008056
11 hydrocephalus occasional (7.5%) HP:0000238
12 cleft eyelid occasional (7.5%) HP:0000625
13 congenital diaphragmatic hernia occasional (7.5%) HP:0000776
14 brachydactyly syndrome occasional (7.5%) HP:0001156
15 ventricular septal defect occasional (7.5%) HP:0001629
16 abnormality of the aorta occasional (7.5%) HP:0001679
17 hydrops fetalis occasional (7.5%) HP:0001789
18 foot polydactyly occasional (7.5%) HP:0001829
19 facial cleft occasional (7.5%) HP:0002006
20 tracheoesophageal fistula occasional (7.5%) HP:0002575
21 tracheomalacia occasional (7.5%) HP:0002779
22 abnormal form of the vertebral bodies occasional (7.5%) HP:0003312
23 midline defect of the nose occasional (7.5%) HP:0004122
24 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
25 abnormal localization of kidney occasional (7.5%) HP:0100542
26 cognitive impairment occasional (7.5%) HP:0100543

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:

34
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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet