MCID: MYC060
MIFTS: 14

Mycophenolate Mofetil Embryopathy malady

Fetal diseases, Rare diseases categories
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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 microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia, external auditory canal atresia/stenosis/agenesis and hypertelorism. Affiliated tissues include kidney.

Aliases & Classifications for Mycophenolate Mofetil Embryopathy

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Sources:
48Orphanet, 26ICD10 via Orphanet
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Mycophenolate Mofetil Embryopathy, Aliases & Descriptions:

Name: Mycophenolate Mofetil Embryopathy 48
 
Mmf Embryopathy 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases, Rare diseases


Characteristics (Orphanet epidemiological data):

48
mycophenolate mofetil embryopathy:
Inheritance: Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Any age


External Ids:

ICD10 via Orphanet26 Q86.8

Related Diseases for Mycophenolate Mofetil Embryopathy

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Symptoms for Mycophenolate Mofetil Embryopathy

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Symptoms:

48 (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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Drug clinical trials:

Search ClinicalTrials for Mycophenolate Mofetil Embryopathy

Search 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:

32
Kidney

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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Compounds for genes affiliated with Mycophenolate Mofetil Embryopathy

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GO Terms for genes affiliated with Mycophenolate Mofetil Embryopathy

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Products for genes affiliated with Mycophenolate Mofetil Embryopathy

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  • Antibodies
  • Proteins
  • Lysates

Sources for Mycophenolate Mofetil Embryopathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet