MCID: TTR031
MIFTS: 35

Tetraamelia Syndrome

Categories: Bone diseases, Cardiovascular diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Tetraamelia Syndrome

MalaCards integrated aliases for Tetraamelia Syndrome:

Name: Tetraamelia Syndrome 12
Tetraamelia, Autosomal Recessive 20 29 6 39
Tetra-Amelia Syndrome 12 20 43 36
Tetraamelia-Multiple Malformations Syndrome 12 20 58
Tetra-Amelia 20 43 58
Tetra-Amelia, Autosomal Recessive 20 43
Zimmer Phocomelia 20 58
Total Amelia 20 58
Zimmer Taub Sova Syndrome 20
Tetams 12

Characteristics:

Orphanet epidemiological data:

58
tetraamelia-multiple malformations syndrome
Inheritance: Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Tetraamelia Syndrome

GARD : 20 Tetra-amelia syndrome is a very rare disorder characterized by the absence of all four limbs. This syndrome can also cause severe malformations of other parts of the body, including the face and head, heart, nervous system, skeleton, and genitalia. The lungs are underdeveloped in many cases, which makes breathing difficult or impossible. Because children with tetra-amelia syndrome have such serious medical problems, most are stillborn or die shortly after birth. The condition has been associated with a mutation in the WNT3 gene in one family, and it appears to be inherited in an autosomal recessive manner. Treatment for those that survive depends upon the presence and severity of the associated symptoms and may require the coordinated efforts of a team of specialists.

MalaCards based summary : Tetraamelia Syndrome, also known as tetraamelia, autosomal recessive, is related to tetraamelia syndrome 1 and tetraamelia syndrome 2. An important gene associated with Tetraamelia Syndrome is WNT3 (Wnt Family Member 3), and among its related pathways/superpathways are Wnt signaling pathway and Signaling by Wnt. Affiliated tissues include eye, kidney and lung, and related phenotypes are hydrocephalus and microtia

Disease Ontology : 12 A syndrome characterized by rudimentary or absent appendages and anomalies involving the cranium and face, urogenital system, anorectum, heart, lungs, skeleton, and/or central nervous system.

MedlinePlus Genetics : 43 Tetra-amelia syndrome is a very rare disorder characterized by the absence of all four limbs. ("Tetra" is the Greek word for "four," and "amelia" refers to the failure of an arm or leg to develop before birth.) This syndrome can also cause severe malformations of other parts of the body, including the face and head, heart, nervous system, skeleton, and genitalia. The lungs are underdeveloped in many cases, which makes breathing difficult or impossible. Because children with tetra-amelia syndrome have such serious medical problems, most are stillborn or die shortly after birth.

KEGG : 36 Tetra-amelia syndrome (TETAMS) is an extremely rare condition characterized by the complete absence of all four limbs. Patients commonly have other anomalies involving the face, eyes, heart, nervous system, and urogenital system. Homozygous Wnt3 mutation is responsible for tetra-amelia. Recently, it has been reported that RSPO2 mutations cause tetra-amelia syndrome with lung aplasia.

Wikipedia : 74 Tetra-amelia syndrome (tetra- + amelia), also called autosomal recessive tetraamelia, is an extremely... more...

Related Diseases for Tetraamelia Syndrome

Graphical network of the top 20 diseases related to Tetraamelia Syndrome:



Diseases related to Tetraamelia Syndrome

Symptoms & Phenotypes for Tetraamelia Syndrome

Human phenotypes related to Tetraamelia Syndrome:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000238
2 microtia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008551
3 polyhydramnios 58 31 hallmark (90%) Very frequent (99-80%) HP:0001561
4 aplasia/hypoplasia of the lungs 58 31 hallmark (90%) Very frequent (99-80%) HP:0006703
5 aplasia/hypoplasia involving the nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0009924
6 oral cleft 58 31 hallmark (90%) Very frequent (99-80%) HP:0000202
7 aplasia/hypoplasia involving the pelvis 58 31 hallmark (90%) Very frequent (99-80%) HP:0009103
8 tetraamelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003057
9 agenesis of corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0001274
10 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
11 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
12 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
13 aplasia/hypoplasia of the nipples 58 31 frequent (33%) Frequent (79-30%) HP:0006709
14 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
15 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
16 anal atresia 58 31 frequent (33%) Frequent (79-30%) HP:0002023
17 iris coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000612
18 microphthalmia 58 31 frequent (33%) Frequent (79-30%) HP:0000568
19 microcornea 58 31 frequent (33%) Frequent (79-30%) HP:0000482
20 abnormally ossified vertebrae 58 31 frequent (33%) Frequent (79-30%) HP:0100569
21 multicystic kidney dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000003
22 missing ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000921
23 abnormal lung lobation 58 31 frequent (33%) Frequent (79-30%) HP:0002101
24 tracheal stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0002777
25 abnormality of the larynx 58 31 frequent (33%) Frequent (79-30%) HP:0001600
26 vaginal atresia 58 31 frequent (33%) Frequent (79-30%) HP:0000148
27 septo-optic dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0100842
28 abnormality of the ribs 58 Frequent (79-30%)

Drugs & Therapeutics for Tetraamelia Syndrome

Search Clinical Trials , NIH Clinical Center for Tetraamelia Syndrome

Genetic Tests for Tetraamelia Syndrome

Genetic tests related to Tetraamelia Syndrome:

# Genetic test Affiliating Genes
1 Tetraamelia, Autosomal Recessive 29 WNT3

Anatomical Context for Tetraamelia Syndrome

MalaCards organs/tissues related to Tetraamelia Syndrome:

40
Eye, Kidney, Lung

Publications for Tetraamelia Syndrome

Articles related to Tetraamelia Syndrome:

# Title Authors PMID Year
1
Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family. 6
14872406 2004
2
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6. 61
29769720 2018
3
Tetra-Amelia Syndrome. 61
27672584 2016
4
Continuous Noninvasive Hemodynamic Monitoring in an Infant With Tetra-Amelia. 61
27513971 2016
5
Tetra-Amelia Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301453 2007

Variations for Tetraamelia Syndrome

ClinVar genetic disease variations for Tetraamelia Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WNT3 NM_030753.5(WNT3):c.247C>T (p.Gln83Ter) SNV Pathogenic 13812 rs104894653 17:44851109-44851109 17:46773743-46773743

Expression for Tetraamelia Syndrome

Search GEO for disease gene expression data for Tetraamelia Syndrome.

Pathways for Tetraamelia Syndrome

Pathways related to Tetraamelia Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

Pathways related to Tetraamelia Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.92 WNT3 RSPO2
2
Show member pathways
11.42 WNT3 RSPO2
3 10.83 WNT3 RSPO2

GO Terms for Tetraamelia Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.37 WNT3 RSPO2
2 Wnt signaling pathway GO:0016055 9.32 WNT3 RSPO2
3 limb development GO:0060173 9.26 WNT3 RSPO2
4 positive regulation of Wnt signaling pathway GO:0030177 9.16 WNT3 RSPO2
5 embryonic forelimb morphogenesis GO:0035115 8.96 WNT3 RSPO2
6 embryonic hindlimb morphogenesis GO:0035116 8.62 WNT3 RSPO2

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

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

Sources for Tetraamelia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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