MCID: MCR078
MIFTS: 16

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 52
Thomas Jewett Raines Syndrome 52 71
Thomas-Jewett-Raines Syndrome 52 58
Fetal Akinesia with Characteristic Facial Appearance, Severe Microphthalmia, Microtia, and Truncus Arteriosus 52
Microphthalmia-Microtia-Fetal Akinesia Syndrome 58
Microphthalmia-Microtia-Fetal Akinesia 52

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

UMLS via Orphanet 72 C2931224
Orphanet 58 ORPHA2547
UMLS 71 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 microphthalmia 10.6
2 microtia 10.6

Symptoms & Phenotypes for Microphthalmia Microtia Fetal Akinesia

Human phenotypes related to Microphthalmia Microtia Fetal Akinesia:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
2 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
3 microtia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008551
4 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
5 patent ductus arteriosus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001643
6 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001376
7 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
8 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
9 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
10 abnormality of the bladder 58 31 frequent (33%) Frequent (79-30%) HP:0000014
11 hypoplasia of penis 58 31 frequent (33%) Frequent (79-30%) HP:0008736
12 symphalangism affecting the phalanges of the hand 58 31 frequent (33%) Frequent (79-30%) HP:0009773
13 hydroureter 58 31 frequent (33%) Frequent (79-30%) HP:0000072
14 duodenal stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0100867
15 abnormality of the upper urinary tract 58 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:

40
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. 61
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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