MCID: TTR025
MIFTS: 31

Tetraamelia Syndrome, Autosomal Recessive

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Tetraamelia Syndrome, Autosomal Recessive

MalaCards integrated aliases for Tetraamelia Syndrome, Autosomal Recessive:

Name: Tetraamelia Syndrome, Autosomal Recessive 57 75 73
Tetraamelia, Autosomal Recessive 53 29 6 40
Tetra-Amelia Syndrome 57 24 53 25
Tetra-Amelia 53 25 59 37
Tetra-Amelia, Autosomal Recessive 53 25 13
Total Amelia 53 59
Tetams 57 75
Tetraamelia-Multiple Malformations Syndrome 59
Tetraamelia Multiple Malformations 73
Autosomal Recessive Tetra-Amelia 75
Zimmer Phocomelia 59

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity
affected infants die in neonatal period
a wnt3 mutation has been identified in 1 affected family


HPO:

32
tetraamelia syndrome, autosomal recessive:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Tetraamelia Syndrome, Autosomal Recessive

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 : Tetraamelia Syndrome, Autosomal Recessive, also known as tetraamelia, autosomal recessive, is related to madokoro ohdo sonoda syndrome and tetraamelia multiple malformations x-linked. An important gene associated with Tetraamelia Syndrome, Autosomal Recessive is WNT3 (Wnt Family Member 3), and among its related pathways/superpathways is Wnt signaling pathway. Affiliated tissues include lung, heart and kidney, and related phenotypes are agenesis of corpus callosum and hydrocephalus

OMIM : 57 Tetraamelia syndrome-1 is characterized by complete limb agenesis without defects of scapulae or clavicles. Other features include bilateral cleft lip/palate, diaphragmatic defect with bilobar right lung, renal and adrenal agenesis, pelvic hypoplasia, and urogenital defects (Niemann et al., 2004). (273395)

UniProtKB/Swiss-Prot : 75 Tetraamelia syndrome, autosomal recessive: A rare human genetic disorder characterized by complete absence of all four limbs and other anomalies such as craniofacial, nervous system, pulmonary, skeletal and urogenital defects.

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:

Related Diseases for Tetraamelia Syndrome, Autosomal Recessive

Diseases related to Tetraamelia Syndrome, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 madokoro ohdo sonoda syndrome 11.3
2 tetraamelia multiple malformations x-linked 11.2
3 roberts syndrome 10.1

Symptoms & Phenotypes for Tetraamelia Syndrome, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Head And Neck Eyes:
cataract
microphthalmia

Head And Neck Face:
micrognathia

Respiratory Nasopharynx:
choanal atresia

Genitourinary Kidneys:
renal agenesis

Abdomen External Features:
gastroschisis

Head And Neck Nose:
single naris

Chest Diaphragm:
diaphragmatic defect

Cardiovascular Vascular:
peripheral pulmonary vessel aplasia

Skeletal Limbs:
limb amelia
tetra-amelia

Neurologic Central Nervous System:
hydrocephalus

Head And Neck Mouth:
cleft palate
cleft lip

Abdomen Gastrointestinal:
anal atresia

Genitourinary Bladder:
urethral atresia

Respiratory Lung:
pulmonary hypoplasia
bilobar right lung

Genitourinary Internal Genitalia Female:
vaginal atresia
rudimentary fallopian tubes
malformed uterus
rudimentary ovaries

Genitourinary External Genitalia Male:
absent external genitalia

AbdomenSpleen:
splenic agenesis

Skeletal Pelvis:
pelvic hypoplasia

Endocrine Features:
adrenal gland agenesis


Clinical features from OMIM:

273395

Human phenotypes related to Tetraamelia Syndrome, Autosomal Recessive:

59 32 (show all 45)
# 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 abnormal vertebral ossification 59 32 frequent (33%) Frequent (79-30%) HP:0100569
19 missing ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000921
20 aplasia/hypoplasia of the lungs 59 32 hallmark (90%) Very frequent (99-80%) HP:0006703
21 oral cleft 59 32 hallmark (90%) Very frequent (99-80%) HP:0000202
22 aplasia/hypoplasia involving the nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0009924
23 abnormal lung lobation 59 32 frequent (33%) Frequent (79-30%) HP:0002101
24 abnormality of the larynx 59 32 frequent (33%) Frequent (79-30%) HP:0001600
25 vaginal atresia 59 32 frequent (33%) Frequent (79-30%) HP:0000148
26 septo-optic dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0100842
27 tetraamelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003057
28 low-set ears 32 HP:0000369
29 cleft palate 32 HP:0000175
30 choanal atresia 32 HP:0000453
31 abnormality of the ribs 59 Frequent (79-30%)
32 hypoplastic pelvis 32 HP:0008839
33 cleft upper lip 32 HP:0000204
34 urethral atresia 32 HP:0000068
35 asplenia 32 HP:0001746
36 single umbilical artery 32 HP:0001195
37 renal agenesis 32 HP:0000104
38 pulmonary hypoplasia 32 HP:0002089
39 gastroschisis 32 HP:0001543
40 single naris 32 HP:0009932
41 absent external genitalia 32 HP:0000042
42 peripheral pulmonary vessel aplasia 32 HP:0005316
43 adrenal gland agenesis 32 HP:0011743
44 abnormality of the diaphragm 32 HP:0000775
45 hypoplasia of the fallopian tube 32 HP:0008697

Drugs & Therapeutics for Tetraamelia Syndrome, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Tetraamelia Syndrome, Autosomal Recessive

Genetic Tests for Tetraamelia Syndrome, Autosomal Recessive

Genetic tests related to Tetraamelia Syndrome, Autosomal Recessive:

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

Anatomical Context for Tetraamelia Syndrome, Autosomal Recessive

MalaCards organs/tissues related to Tetraamelia Syndrome, Autosomal Recessive:

41
Lung, Heart, Kidney, Bone, Ovary, Uterus, Adrenal Gland

Publications for Tetraamelia Syndrome, Autosomal Recessive

Articles related to Tetraamelia Syndrome, Autosomal Recessive:

# Title Authors Year
1
Tetra-Amelia Syndrome. ( 27672584 )
2016
2
Tetra-Amelia Syndrome ( 20301453 )
1993

Variations for Tetraamelia Syndrome, Autosomal Recessive

ClinVar genetic disease variations for Tetraamelia Syndrome, Autosomal Recessive:

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 GRCh37 Chromosome 17, 44895992: 44895992
12 WNT3 NM_030753.4(WNT3): c.-29G> A single nucleotide variant Uncertain significance rs199742069 GRCh38 Chromosome 17, 46818626: 46818626
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 Tetraamelia Syndrome, Autosomal Recessive

Search GEO for disease gene expression data for Tetraamelia Syndrome, Autosomal Recessive.

Pathways for Tetraamelia Syndrome, Autosomal Recessive

Pathways related to Tetraamelia Syndrome, Autosomal Recessive according to KEGG:

37
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

GO Terms for Tetraamelia Syndrome, Autosomal Recessive

Sources for Tetraamelia Syndrome, Autosomal Recessive

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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