MCID: MCR078
MIFTS: 14

Microphthalmia Microtia Fetal Akinesia

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Microphthalmia Microtia Fetal Akinesia

MalaCards integrated aliases for Microphthalmia Microtia Fetal Akinesia:

Name: Microphthalmia Microtia Fetal Akinesia 53
Thomas Jewett Raines Syndrome 53 72
Thomas-Jewett-Raines Syndrome 53 59
Fetal Akinesia with Characteristic Facial Appearance, Severe Microphthalmia, Microtia, and Truncus Arteriosus 53
Microphthalmia-Microtia-Fetal Akinesia Syndrome 59
Microphthalmia-Microtia-Fetal Akinesia 53

Classifications:



External Ids:

UMLS via Orphanet 73 C2931224
Orphanet 59 ORPHA2547
UMLS 72 C2931224

Summaries for Microphthalmia Microtia Fetal Akinesia

MalaCards based summary : Microphthalmia Microtia Fetal Akinesia, also known as thomas jewett raines syndrome, is related to microphthalmia and microtia. Affiliated tissues include eye, and related phenotypes are frontal bossing and short nose

Related Diseases for Microphthalmia Microtia Fetal Akinesia

Diseases related to Microphthalmia Microtia Fetal Akinesia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microtia 10.6
2 microphthalmia 10.6

Symptoms & Phenotypes for Microphthalmia Microtia Fetal Akinesia

Human phenotypes related to Microphthalmia Microtia Fetal Akinesia:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
2 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
3 microtia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008551
4 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
5 patent ductus arteriosus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001643
6 limitation of joint mobility 59 32 hallmark (90%) Very frequent (99-80%) HP:0001376
7 microphthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000568
8 camptodactyly of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0100490
9 polyhydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001561
10 hypoplasia of penis 59 32 frequent (33%) Frequent (79-30%) HP:0008736
11 abnormality of the bladder 59 32 frequent (33%) Frequent (79-30%) HP:0000014
12 symphalangism affecting the phalanges of the hand 59 32 frequent (33%) Frequent (79-30%) HP:0009773
13 hydroureter 59 32 frequent (33%) Frequent (79-30%) HP:0000072
14 duodenal stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0100867
15 abnormality of the upper urinary tract 59 Frequent (79-30%)

Drugs & Therapeutics for Microphthalmia Microtia Fetal Akinesia

Search Clinical Trials , NIH Clinical Center for Microphthalmia Microtia Fetal Akinesia

Genetic Tests for Microphthalmia Microtia Fetal Akinesia

Anatomical Context for Microphthalmia Microtia Fetal Akinesia

MalaCards organs/tissues related to Microphthalmia Microtia Fetal Akinesia:

41
Eye

Publications for Microphthalmia Microtia Fetal Akinesia

Articles related to Microphthalmia Microtia Fetal Akinesia:

# Title Authors PMID Year
1
New lethal syndrome of fetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus in two male sibs. 38
8484406 1993

Variations for Microphthalmia Microtia Fetal Akinesia

Expression for Microphthalmia Microtia Fetal Akinesia

Search GEO for disease gene expression data for Microphthalmia Microtia Fetal Akinesia.

Pathways for Microphthalmia Microtia Fetal Akinesia

GO Terms for Microphthalmia Microtia Fetal Akinesia

Sources for Microphthalmia Microtia Fetal Akinesia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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