MCID: TTR016
MIFTS: 38

Tetra-Amelia Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Tetra-Amelia Syndrome

MalaCards integrated aliases for Tetra-Amelia Syndrome:

Name: Tetra-Amelia Syndrome 24 53 25
Tetra-Amelia 24 53 25 59 37
Tetraamelia, Autosomal Recessive 53 29 6 40
Tetra-Amelia, Autosomal Recessive 53 25 13
Total Amelia 53 59
Autosomal Recessive 24

Characteristics:

GeneReviews:

24
Penetrance Based on the few reports, penetrance appears to be complete with respect to absence of the limbs and incomplete with respect to the associated malformations. expressivity of the associated manifestations is highly variable...

Classifications:



External Ids:

Orphanet 59 ORPHA294971
ICD10 via Orphanet 34 Q73.0
KEGG 37 H00636

Summaries for Tetra-Amelia Syndrome

NIH Rare Diseases : 53 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 hasĀ been associated with a mutation in the WNT3 gene in one family, and it appears to be inherited in anĀ 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 : Tetra-Amelia Syndrome, also known as tetra-amelia, is related to spinocerebellar ataxia, autosomal recessive 8 and hypercholesterolemia, autosomal recessive. An important gene associated with Tetra-Amelia Syndrome is WNT3 (Wnt Family Member 3), and among its related pathways/superpathways is Wnt signaling pathway. Affiliated tissues include lung, heart and bone.

Genetics Home Reference : 25 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.

Wikipedia : 76 Tetra-amelia syndrome (tetra- + amelia), also called autosomal recessive tetraamelia, is an extremely... more...

GeneReviews: NBK1276

Related Diseases for Tetra-Amelia Syndrome

Diseases related to Tetra-Amelia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 3219)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 8 12.4
2 hypercholesterolemia, autosomal recessive 12.4
3 osteopetrosis, autosomal recessive 1 12.4
4 pseudohypoaldosteronism, type i, autosomal recessive 12.4
5 osteopetrosis, autosomal recessive 6 12.4
6 cutis laxa, autosomal recessive, type ia 12.4
7 ichthyosis, congenital, autosomal recessive 11 12.4
8 alport syndrome, autosomal recessive 12.3
9 neuromyotonia and axonal neuropathy, autosomal recessive 12.3
10 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 12.3
11 ichthyosis, congenital, autosomal recessive 1 12.3
12 osteopetrosis, autosomal recessive 3 12.3
13 spinocerebellar ataxia, autosomal recessive 7 12.3
14 microcephaly 1, primary, autosomal recessive 12.3
15 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 12.3
16 deafness, autosomal recessive 1a 12.3
17 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 12.3
18 deafness, autosomal recessive 93 12.3
19 deafness, autosomal recessive 21 12.3
20 deafness, autosomal recessive 53 12.3
21 deafness, autosomal recessive 28 12.3
22 deafness, autosomal recessive 63 12.3
23 deafness, autosomal recessive 29 12.3
24 ichthyosis, congenital, autosomal recessive 2 12.3
25 ichthyosis, congenital, autosomal recessive 3 12.3
26 hyper-ige recurrent infection syndrome, autosomal recessive 12.3
27 primary autosomal recessive microcephaly 12.3
28 emery-dreifuss muscular dystrophy 3, autosomal recessive 12.3
29 deafness, autosomal recessive 8 12.3
30 microcephaly 5, primary, autosomal recessive 12.3
31 microcephaly 10, primary, autosomal recessive 12.3
32 spinocerebellar ataxia, autosomal recessive 16 12.3
33 ectopia lentis 2, isolated, autosomal recessive 12.3
34 ichthyosis, congenital, autosomal recessive 4b 12.3
35 segawa syndrome, autosomal recessive 12.3
36 dystonia 2, torsion, autosomal recessive 12.3
37 neutropenia, severe congenital, 3, autosomal recessive 12.3
38 deafness, autosomal recessive 3 12.3
39 deafness, autosomal recessive 15 12.3
40 autosomal recessive cutis laxa type i 12.3
41 craniometaphyseal dysplasia, autosomal recessive 12.3
42 cutis laxa, autosomal recessive, type iiia 12.3
43 spinocerebellar ataxia, autosomal recessive 20 12.3
44 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i 12.3
45 spinal muscular atrophy, distal, autosomal recessive, 4 12.3
46 cutis laxa, autosomal recessive, type ic 12.3
47 osteopetrosis, autosomal recessive 7 12.3
48 thrombophilia due to protein c deficiency, autosomal recessive 12.3
49 spondylocostal dysostosis 3, autosomal recessive 12.3
50 autosomal recessive congenital ichthyosis 12.3

Graphical network of the top 20 diseases related to Tetra-Amelia Syndrome:



Diseases related to Tetra-Amelia Syndrome

Symptoms & Phenotypes for Tetra-Amelia Syndrome

Drugs & Therapeutics for Tetra-Amelia Syndrome

Search Clinical Trials , NIH Clinical Center for Tetra-Amelia Syndrome

Genetic Tests for Tetra-Amelia Syndrome

Genetic tests related to Tetra-Amelia Syndrome:

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

Anatomical Context for Tetra-Amelia Syndrome

MalaCards organs/tissues related to Tetra-Amelia Syndrome:

41
Lung, Heart, Bone, Liver, Testes, Brain, Bone Marrow

Publications for Tetra-Amelia Syndrome

Articles related to Tetra-Amelia Syndrome:

# Title Authors Year
1
Collaborative Establishment of Difficult Vascular Access for General Anesthetic Management of an Adult With Tetra-Amelia: A Case Report. ( 29985838 )
2018
2
Tetra-Amelia Syndrome. ( 27672584 )
2016
3
Continuous Noninvasive Hemodynamic Monitoring in an Infant With Tetra-Amelia. ( 27513971 )
2016
4
Tetra-amelia with lung hypoplasia and facial clefts, Roberts-SC syndrome: report of two cases. ( 20625748 )
2010
5
Tetra-amelia and lung aplasia syndrome: report of a new family and exclusion of candidate genes. ( 16283889 )
2005
6
Anesthetic management of a patient with tetra-amelia. ( 10094277 )
1999
7
Natural history and postmortem anatomy of a patient with tetra-amelia, ectodermal dysplasia, peculiar face, and developmental retardation (MIM 273390) ( 7534355 )
1994
8
Tetra-amelia, lung hypo-/aplasia, cleft lip-palate, and heart defect: a new syndrome? ( 8030673 )
1994
9
Recurrent tetra-amelia: ultrasonographic diagnosis in early pregnancy. ( 3063244 )
1988
10
Association of tetra-amelia, ectodermal dysplasia, hypoplastic lacrimal ducts and sacs opening towards the exterior, peculiar face, and developmental retardation. ( 3681906 )
1987

Variations for Tetra-Amelia Syndrome

ClinVar genetic disease variations for Tetra-Amelia Syndrome:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 WNT3 NM_030753.4(WNT3): c.247C> T (p.Gln83Ter) single nucleotide variant Pathogenic rs104894653 GRCh37 Chromosome 17, 44851109: 44851109
2 WNT3 NM_030753.4(WNT3): c.247C> T (p.Gln83Ter) single nucleotide variant Pathogenic rs104894653 GRCh38 Chromosome 17, 46773743: 46773743
3 WNT3 NM_030753.4(WNT3): c.800A> G (p.Lys267Arg) single nucleotide variant Uncertain significance rs886053073 GRCh38 Chromosome 17, 46768588: 46768588
4 WNT3 NM_030753.4(WNT3): c.800A> G (p.Lys267Arg) single nucleotide variant Uncertain significance rs886053073 GRCh37 Chromosome 17, 44845954: 44845954
5 WNT3 NM_030753.4(WNT3): c.*128C> T single nucleotide variant Uncertain significance rs759600970 GRCh38 Chromosome 17, 46764502: 46764502
6 WNT3 NM_030753.4(WNT3): c.*128C> T single nucleotide variant Uncertain significance rs759600970 GRCh37 Chromosome 17, 44841868: 44841868
7 WNT3 NM_030753.4(WNT3): c.*97G> A single nucleotide variant Uncertain significance rs886053072 GRCh38 Chromosome 17, 46764533: 46764533
8 WNT3 NM_030753.4(WNT3): c.*97G> A single nucleotide variant Uncertain significance rs886053072 GRCh37 Chromosome 17, 44841899: 44841899
9 WNT3 NM_030753.4(WNT3): c.*29T> C single nucleotide variant Uncertain significance rs114693722 GRCh38 Chromosome 17, 46764601: 46764601
10 WNT3 NM_030753.4(WNT3): c.*29T> C single nucleotide variant Uncertain significance rs114693722 GRCh37 Chromosome 17, 44841967: 44841967
11 WNT3 NM_030753.4(WNT3): c.-29G> A single nucleotide variant Uncertain significance rs199742069 GRCh38 Chromosome 17, 46818626: 46818626
12 WNT3 NM_030753.4(WNT3): c.-29G> A single nucleotide variant Uncertain significance rs199742069 GRCh37 Chromosome 17, 44895992: 44895992
13 WNT3 NM_030753.4(WNT3): c.-53T> A single nucleotide variant Uncertain significance rs886053074 GRCh38 Chromosome 17, 46818650: 46818650
14 WNT3 NM_030753.4(WNT3): c.-53T> A single nucleotide variant Uncertain significance rs886053074 GRCh37 Chromosome 17, 44896016: 44896016
15 WNT3 NM_030753.4(WNT3): c.-112T> C single nucleotide variant Uncertain significance rs886053075 GRCh38 Chromosome 17, 46818709: 46818709
16 WNT3 NM_030753.4(WNT3): c.-112T> C single nucleotide variant Uncertain significance rs886053075 GRCh37 Chromosome 17, 44896075: 44896075

Expression for Tetra-Amelia Syndrome

Search GEO for disease gene expression data for Tetra-Amelia Syndrome.

Pathways for Tetra-Amelia Syndrome

Pathways related to Tetra-Amelia Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

GO Terms for Tetra-Amelia Syndrome

Sources for Tetra-Amelia 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
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