MCID: MYC060
MIFTS: 15

Mycophenolate Mofetil Embryopathy malady

Fetal diseases, Rare diseases categories

Aliases & Classifications for Mycophenolate Mofetil Embryopathy

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Sources:
51Orphanet, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Mycophenolate Mofetil Embryopathy:

Name: Mycophenolate Mofetil Embryopathy 51
 
Mmf Embryopathy 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
mycophenolate mofetil embryopathy:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age


External Ids:

Orphanet51 268249
ICD10 via Orphanet28 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:

 51 (show all 27)
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • external auditory canal atresia/stenosis/agenesis
  • hypertelorism
  • micrognathia/retrognathia/micrognathism/retrognathism
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • coloboma of iris
  • retinoschisis/retinal/chorioretinal coloboma
  • visual loss/blindness/amblyopia
  • cleft lip and palate
  • hearing loss/hypoacusia/deafness
  • thin/hypoplastic toenails
  • facial cleft
  • coloboma of the eyelid
  • bifid tip/cleft nose/supernumerary nose
  • abnormal vertebral size/shape
  • short hand/brachydactyly
  • polydactyly of toes
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • tracheomalacia/tracheobronchomalacia
  • diaphragmatic hernia/defect/agenesis
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • ventricular septal defect/interventricular communication
  • ectopic/horseshoe/fused kidneys
  • hydrocephaly
  • corpus callosum/septum pellucidum total/partial agenesis
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hydrops fetalis

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:

33
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
An additional patient with mycophenolate mofetil embryopathy: cardiac and facial analyses. (21594997)
2011
2
Tetrada of the possible mycophenolate mofetil embryopathy: a review. (19491002)
2009
3
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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet