MCID: MYC060
MIFTS: 14

Mycophenolate Mofetil Embryopathy malady

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Mycophenolate Mofetil Embryopathy

About this section
Sources:
31ICD10 via Orphanet, 54Orphanet
See all MalaCards sources

Aliases & Descriptions for Mycophenolate Mofetil Embryopathy:

Name: Mycophenolate Mofetil Embryopathy 54
 
Mmf Embryopathy 54

Characteristics:

Orphanet epidemiological data:

54
mycophenolate mofetil embryopathy:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age

Classifications:



External Ids:

Orphanet54 ORPHA268249
ICD10 via Orphanet31 Q86.8

Summaries for Mycophenolate Mofetil Embryopathy

About this section
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

About this section

Symptoms & Phenotypes for Mycophenolate Mofetil Embryopathy

About this section

Human phenotypes related to Mycophenolate Mofetil Embryopathy:

 64 54 (show all 37)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 atresia of the external auditory canal64 54 hallmark (90%) Very frequent (99-80%) HP:0000413
2 oral cleft64 54 typical (50%) Frequent (79-30%) HP:0000202
3 hypertelorism64 54 typical (50%) Frequent (79-30%) HP:0000316
4 micrognathia64 54 typical (50%) Frequent (79-30%) HP:0000347
5 hearing impairment64 54 typical (50%) Frequent (79-30%) HP:0000365
6 visual impairment64 typical (50%) HP:0000505
7 chorioretinal coloboma64 54 typical (50%) Frequent (79-30%) HP:0000567
8 iris coloboma64 54 typical (50%) Frequent (79-30%) HP:0000612
9 hypoplastic toenails64 54 typical (50%) Frequent (79-30%) HP:0001800
10 aplasia/hypoplasia affecting the eye64 typical (50%) HP:0008056
11 hydrocephalus64 54 occasional (7.5%) Occasional (29-5%) HP:0000238
12 cleft eyelid64 54 occasional (7.5%) Occasional (29-5%) HP:0000625
13 congenital diaphragmatic hernia64 54 occasional (7.5%) Occasional (29-5%) HP:0000776
14 brachydactyly syndrome64 occasional (7.5%) HP:0001156
15 ventricular septal defect64 54 occasional (7.5%) Occasional (29-5%) HP:0001629
16 abnormality of the aorta64 occasional (7.5%) HP:0001679
17 hydrops fetalis64 54 occasional (7.5%) Occasional (29-5%) HP:0001789
18 foot polydactyly64 54 occasional (7.5%) Occasional (29-5%) HP:0001829
19 facial cleft64 54 occasional (7.5%) Occasional (29-5%) HP:0002006
20 tracheoesophageal fistula64 54 occasional (7.5%) Occasional (29-5%) HP:0002575
21 tracheomalacia64 54 occasional (7.5%) Occasional (29-5%) HP:0002779
22 abnormal form of the vertebral bodies64 occasional (7.5%) HP:0003312
23 midline defect of the nose64 occasional (7.5%) HP:0004122
24 aplasia/hypoplasia of the corpus callosum64 occasional (7.5%) HP:0007370
25 abnormal localization of kidney64 occasional (7.5%) HP:0100542
26 cognitive impairment64 occasional (7.5%) HP:0100543
27 ectopic kidney54 Occasional (29-5%)
28 microphthalmia54 Frequent (79-30%)
29 visual loss54 Frequent (79-30%)
30 intellectual disability, mild54 Occasional (29-5%)
31 agenesis of corpus callosum54 Occasional (29-5%)
32 coarctation of aorta54 Occasional (29-5%)
33 short palm54 Occasional (29-5%)
34 bifid thoracic vertebrae54 Occasional (29-5%)
35 microtia54 Very frequent (99-80%)
36 anotia54 Very frequent (99-80%)
37 bifid nose54 Occasional (29-5%)

Drugs & Therapeutics for Mycophenolate Mofetil Embryopathy

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Mycophenolate Mofetil Embryopathy

Genetic Tests for Mycophenolate Mofetil Embryopathy

About this section

Anatomical Context for Mycophenolate Mofetil Embryopathy

About this section

MalaCards organs/tissues related to Mycophenolate Mofetil Embryopathy:

36
Kidney, Eye

Publications for Mycophenolate Mofetil Embryopathy

About this section

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

About this section

Expression for genes affiliated with Mycophenolate Mofetil Embryopathy

About this section
Search GEO for disease gene expression data for Mycophenolate Mofetil Embryopathy.

Pathways for genes affiliated with Mycophenolate Mofetil Embryopathy

About this section

GO Terms for genes affiliated with Mycophenolate Mofetil Embryopathy

About this section

Sources for Mycophenolate Mofetil Embryopathy

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet