MCID: TTR016
MIFTS: 38

Tetra-Amelia Syndrome

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

Aliases & Classifications for Tetra-Amelia Syndrome

MalaCards integrated aliases for Tetra-Amelia Syndrome:

Name: Tetra-Amelia Syndrome 54 23 50 24 25
Tetra-Amelia, Autosomal Recessive 50 24 25 13
Tetra-Amelia 23 50 25 56
Tetraamelia Syndrome, Autosomal Recessive 71 69
Tetraamelia, Autosomal Recessive 50 29
Total Amelia 50 56
Tetraamelia-Multiple Malformations Syndrome 56
Tetraamelia Multiple Malformations 69
Autosomal Recessive Tetra-Amelia 71
Autosomal Recessive 23
Zimmer Phocomelia 56
Tetams 71

Characteristics:

Orphanet epidemiological data:

56
tetraamelia-multiple malformations syndrome
Inheritance: Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive

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


HPO:

32
tetra-amelia syndrome:
Inheritance heterogeneous autosomal recessive inheritance


GeneReviews:

23
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:



Summaries for Tetra-Amelia Syndrome

NIH Rare Diseases : 50 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. last updated: 11/8/2016

MalaCards based summary : Tetra-Amelia Syndrome, also known as tetra-amelia, autosomal recessive, is related to hyper-ige recurrent infection syndrome, autosomal recessive and autosomal recessive congenital ichthyosis, and has symptoms including optic atrophy, hydrocephalus and micrognathia. An important gene associated with Tetra-Amelia Syndrome is WNT3 (Wnt Family Member 3). 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.

UniProtKB/Swiss-Prot : 71 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.

Wikipedia : 72 Tetra-amelia syndrome (tetra- + amelia), also called autosomal recessive tetraamelia, is an extremely... more...

Description from OMIM: 273395
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 1124)
id Related Disease Score Top Affiliating Genes
1 hyper-ige recurrent infection syndrome, autosomal recessive 12.0
2 autosomal recessive congenital ichthyosis 12.0
3 autosomal recessive limb-girdle muscular dystrophy 12.0
4 autosomal recessive primary microcephaly 12.0
5 craniometaphyseal dysplasia, autosomal recessive 12.0
6 spinocerebellar ataxia, autosomal recessive 8 12.0
7 neuromyotonia and axonal neuropathy, autosomal recessive 12.0
8 osteopetrosis, autosomal recessive 7 12.0
9 spinocerebellar ataxia, autosomal recessive 1 12.0
10 deafness, autosomal recessive 15 12.0
11 deafness, autosomal recessive 9 12.0
12 osteopetrosis, autosomal recessive 6 12.0
13 robinow syndrome, autosomal recessive 12.0
14 osteopetrosis, autosomal recessive 1 12.0
15 ichthyosis, congenital, autosomal recessive 6 11.9
16 ichthyosis, congenital, autosomal recessive 11 11.9
17 spinocerebellar ataxia, autosomal recessive 7 11.9
18 alport syndrome, autosomal recessive 11.9
19 spastic paraplegia 11, autosomal recessive 11.9
20 renal tubular acidosis, distal, autosomal recessive 11.9
21 deafness, autosomal recessive 7 11.9
22 deafness, autosomal recessive 12 11.9
23 osteopetrosis, autosomal recessive 2 11.9
24 ichthyosis, congenital, autosomal recessive 1 11.9
25 ichthyosis, congenital, autosomal recessive 5 11.9
26 autosomal recessive cerebellar ataxia 11.9
27 spinocerebellar ataxia, autosomal recessive 2 11.9
28 thrombophilia due to protein c deficiency, autosomal recessive 11.9
29 spinocerebellar ataxia, autosomal recessive 13 11.9
30 deafness, autosomal recessive 48 11.9
31 spinocerebellar ataxia, autosomal recessive 10 11.9
32 deafness, autosomal recessive 37 11.9
33 deafness, autosomal recessive 2 11.9
34 deafness, autosomal recessive 42 11.9
35 deafness, autosomal recessive 6 11.9
36 deafness, autosomal recessive 39 11.9
37 myopathy, centronuclear, autosomal recessive 11.9
38 deafness, autosomal recessive 1a 11.9
39 deafness, autosomal recessive 84a 11.9
40 osteopetrosis, autosomal recessive 3, with renal tubular acidosis 11.9
41 osteopetrosis, autosomal recessive 4 11.9
42 osteopetrosis, autosomal recessive 5 11.9
43 hypercholesterolemia, familial, autosomal recessive 11.9
44 autosomal recessive hypophosphatemic rickets 11.9
45 autosomal recessive congenital stationary night blindness 11.9
46 cutis laxa, autosomal recessive, type ia 11.9
47 ichthyosis, congenital, autosomal recessive 9 11.9
48 ichthyosis, congenital, autosomal recessive 4a 11.9
49 progressive external ophthalmoplegia, autosomal recessive 1 11.9
50 cutis laxa, autosomal recessive, type iib 11.9

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



Diseases related to Tetra-Amelia Syndrome

Symptoms & Phenotypes for Tetra-Amelia Syndrome

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hydrocephalus

Head And Neck- Face:
micrognathia

Head And Neck- Mouth:
cleft palate
cleft lip

Head And Neck- Eyes:
microphthalmia
cataract

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

Head And Neck- Nose:
single naris

Chest- Diaphragm:
diaphragmatic defect

Abdomen- Spleen:
splenic agenesis

Genitourinary- Bladder:
urethral atresia

Skeletal- Limbs:
limb amelia
tetra-amelia

Head And Neck- Ears:
low-set ears

Respiratory- Nasopharynx:
choanal atresia

Respiratory- Lung:
pulmonary hypoplasia
bilobar right lung

Genitourinary- Kidneys:
renal agenesis

Abdomen- Gastroin testinal:
anal atresia

Cardiovascular- Vascular:
peripheral pulmonary vessel aplasia

Abdomen- External Features:
gastroschisis

Genitourinary- External Genitalia Male:
absent external genitalia

Skeletal- Pelvis:
pelvic hypoplasia

Endocrine Features:
adrenal gland agenesis


Clinical features from OMIM:

273395

Human phenotypes related to Tetra-Amelia Syndrome:

56 32 (show all 45)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 optic atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0000648
2 hydrocephalus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000238
3 micrognathia 56 32 frequent (33%) Frequent (79-30%) HP:0000347
4 polyhydramnios 56 32 hallmark (90%) Very frequent (99-80%) HP:0001561
5 microphthalmia 56 32 frequent (33%) Frequent (79-30%) HP:0000568
6 microcornea 56 32 frequent (33%) Frequent (79-30%) HP:0000482
7 cryptorchidism 56 32 frequent (33%) Frequent (79-30%) HP:0000028
8 iris coloboma 56 32 frequent (33%) Frequent (79-30%) HP:0000612
9 cataract 56 32 frequent (33%) Frequent (79-30%) HP:0000518
10 agenesis of corpus callosum 56 32 frequent (33%) Frequent (79-30%) HP:0001274
11 microtia 56 32 hallmark (90%) Very frequent (99-80%) HP:0008551
12 tracheal stenosis 56 32 frequent (33%) Frequent (79-30%) HP:0002777
13 vaginal atresia 56 32 frequent (33%) Frequent (79-30%) HP:0000148
14 anal atresia 56 32 frequent (33%) Frequent (79-30%) HP:0002023
15 missing ribs 56 32 frequent (33%) Frequent (79-30%) HP:0000921
16 abnormal lung lobation 56 32 frequent (33%) Frequent (79-30%) HP:0002101
17 narrow mouth 56 32 frequent (33%) Frequent (79-30%) HP:0000160
18 oral cleft 56 32 hallmark (90%) Very frequent (99-80%) HP:0000202
19 aplasia/hypoplasia of the nipples 56 32 frequent (33%) Frequent (79-30%) HP:0006709
20 multicystic kidney dysplasia 56 32 frequent (33%) Frequent (79-30%) HP:0000003
21 abnormal vertebral ossification 56 32 frequent (33%) Frequent (79-30%) HP:0100569
22 aplasia/hypoplasia of the lungs 56 32 hallmark (90%) Very frequent (99-80%) HP:0006703
23 aplasia/hypoplasia involving the nose 56 32 hallmark (90%) Very frequent (99-80%) HP:0009924
24 abnormality of the larynx 56 32 frequent (33%) Frequent (79-30%) HP:0001600
25 septo-optic dysplasia 56 32 frequent (33%) Frequent (79-30%) HP:0100842
26 aplasia/hypoplasia involving the pelvis 56 32 hallmark (90%) Very frequent (99-80%) HP:0009103
27 tetraamelia 56 32 hallmark (90%) Very frequent (99-80%) HP:0003057
28 low-set ears 32 HP:0000369
29 choanal atresia 32 HP:0000453
30 cleft palate 32 HP:0000175
31 pulmonary hypoplasia 32 HP:0002089
32 single umbilical artery 32 HP:0001195
33 renal agenesis 32 HP:0000104
34 asplenia 32 HP:0001746
35 single naris 32 HP:0009932
36 peripheral pulmonary vessel aplasia 32 HP:0005316
37 gastroschisis 32 HP:0001543
38 absent external genitalia 32 HP:0000042
39 urethral atresia 32 HP:0000068
40 adrenal gland agenesis 32 HP:0011743
41 hypoplastic pelvis 32 HP:0008839
42 abnormality of the ribs 56 Frequent (79-30%)
43 cleft upper lip 32 HP:0000204
44 abnormality of the diaphragm 32 HP:0000775
45 hypoplasia of the fallopian tube 32 HP:0008697

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:

id Genetic test Affiliating Genes
1 Tetraamelia, Autosomal Recessive 29
2 Tetra-Amelia Syndrome 24 WNT3

Anatomical Context for Tetra-Amelia Syndrome

MalaCards organs/tissues related to Tetra-Amelia Syndrome:

39
Lung, Heart, Bone, Kidney, Ovary, Uterus, Adrenal Gland

Publications for Tetra-Amelia Syndrome

Articles related to Tetra-Amelia Syndrome:

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

Variations for Tetra-Amelia Syndrome

ClinVar genetic disease variations for Tetra-Amelia Syndrome:

6
id 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

Expression for Tetra-Amelia Syndrome

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

Pathways for Tetra-Amelia Syndrome

GO Terms for Tetra-Amelia Syndrome

Sources for Tetra-Amelia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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