MCID: TTR023
MIFTS: 27

Tetraamelia-Multiple Malformations Syndrome

Categories: Bone diseases, Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Tetraamelia-Multiple Malformations Syndrome

MalaCards integrated aliases for Tetraamelia-Multiple Malformations Syndrome:

Name: Tetraamelia-Multiple Malformations Syndrome 59
Zimmer Phocomelia 59

Characteristics:

Orphanet epidemiological data:

59
tetraamelia-multiple malformations syndrome
Inheritance: Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:



Summaries for Tetraamelia-Multiple Malformations Syndrome

MalaCards based summary : Tetraamelia-Multiple Malformations Syndrome, also known as zimmer phocomelia, is related to tetraamelia multiple malformations x-linked and phocomelia. An important gene associated with Tetraamelia-Multiple Malformations Syndrome is WNT3 (Wnt Family Member 3), and among its related pathways/superpathways are Signaling by Wnt and mTOR signaling pathway (KEGG). Affiliated tissues include lung, kidney and bone, and related phenotypes are agenesis of corpus callosum and hydrocephalus

Related Diseases for Tetraamelia-Multiple Malformations Syndrome

Diseases related to Tetraamelia-Multiple Malformations Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 tetraamelia multiple malformations x-linked 11.7
2 phocomelia 10.3

Symptoms & Phenotypes for Tetraamelia-Multiple Malformations Syndrome

Human phenotypes related to Tetraamelia-Multiple Malformations Syndrome:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0001274
2 hydrocephalus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000238
3 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
4 microtia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008551
5 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
6 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
7 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
8 aplasia/hypoplasia of the nipples 59 32 frequent (33%) Frequent (79-30%) HP:0006709
9 microphthalmia 59 32 frequent (33%) Frequent (79-30%) HP:0000568
10 multicystic kidney dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000003
11 narrow mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000160
12 anal atresia 59 32 frequent (33%) Frequent (79-30%) HP:0002023
13 polyhydramnios 59 32 hallmark (90%) Very frequent (99-80%) HP:0001561
14 tracheal stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0002777
15 aplasia/hypoplasia involving the pelvis 59 32 hallmark (90%) Very frequent (99-80%) HP:0009103
16 iris coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000612
17 microcornea 59 32 frequent (33%) Frequent (79-30%) HP:0000482
18 missing ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000921
19 aplasia/hypoplasia of the lungs 59 32 hallmark (90%) Very frequent (99-80%) HP:0006703
20 oral cleft 59 32 hallmark (90%) Very frequent (99-80%) HP:0000202
21 aplasia/hypoplasia involving the nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0009924
22 abnormal lung lobation 59 32 frequent (33%) Frequent (79-30%) HP:0002101
23 abnormality of the larynx 59 32 frequent (33%) Frequent (79-30%) HP:0001600
24 vaginal atresia 59 32 frequent (33%) Frequent (79-30%) HP:0000148
25 septo-optic dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0100842
26 tetraamelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003057
27 abnormality of the ribs 59 Frequent (79-30%)
28 abnormal vertebral ossification 59 Frequent (79-30%)
29 abnormally ossified vertebrae 32 frequent (33%) HP:0100569

MGI Mouse Phenotypes related to Tetraamelia-Multiple Malformations Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.62 RSPO2 WNT3

Drugs & Therapeutics for Tetraamelia-Multiple Malformations Syndrome

Search Clinical Trials , NIH Clinical Center for Tetraamelia-Multiple Malformations Syndrome

Genetic Tests for Tetraamelia-Multiple Malformations Syndrome

Anatomical Context for Tetraamelia-Multiple Malformations Syndrome

MalaCards organs/tissues related to Tetraamelia-Multiple Malformations Syndrome:

41
Lung, Kidney, Bone, Eye

Publications for Tetraamelia-Multiple Malformations Syndrome

Articles related to Tetraamelia-Multiple Malformations Syndrome:

# Title Authors Year
1
Zimmer phocomelia: delineation by principal coordinate analysis. ( 8957512 )
1996

Variations for Tetraamelia-Multiple Malformations Syndrome

Expression for Tetraamelia-Multiple Malformations Syndrome

Search GEO for disease gene expression data for Tetraamelia-Multiple Malformations Syndrome.

Pathways for Tetraamelia-Multiple Malformations Syndrome

Pathways related to Tetraamelia-Multiple Malformations Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.92 RSPO2 WNT3
2
Show member pathways
11.42 RSPO2 WNT3
3
Show member pathways
10.8 RSPO2 WNT3

GO Terms for Tetraamelia-Multiple Malformations Syndrome

Biological processes related to Tetraamelia-Multiple Malformations Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Wnt signaling pathway GO:0016055 9.26 RSPO2 WNT3
2 positive regulation of Wnt signaling pathway GO:0030177 9.16 RSPO2 WNT3
3 embryonic forelimb morphogenesis GO:0035115 8.96 RSPO2 WNT3
4 embryonic hindlimb morphogenesis GO:0035116 8.62 RSPO2 WNT3

Molecular functions related to Tetraamelia-Multiple Malformations Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 8.96 RSPO2 WNT3
2 frizzled binding GO:0005109 8.62 RSPO2 WNT3

Sources for Tetraamelia-Multiple Malformations Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....