TETAMS1
MCID: TTR028
MIFTS: 27

Tetraamelia Syndrome 1 (TETAMS1)

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

Aliases & Classifications for Tetraamelia Syndrome 1

MalaCards integrated aliases for Tetraamelia Syndrome 1:

Name: Tetraamelia Syndrome 1 57 12 72
Tetraamelia Syndrome, Autosomal Recessive 57 72 6 70
Tetams1 57 12 72
Tetra-Amelia Syndrome 1 57 12
Tetraamelia Multiple Malformations 70
Autosomal Recessive Tetra-Amelia 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
tetraamelia syndrome 1:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



Summaries for Tetraamelia Syndrome 1

UniProtKB/Swiss-Prot : 72 Tetraamelia syndrome 1: A form of tetraamelia, a rare disease characterized by rudimentary appendages or complete absence of all four limbs, and other anomalies such as craniofacial, nervous system, pulmonary, skeletal and urogenital defects. TETAMS1 patients manifest 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. TETAMS1 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Tetraamelia Syndrome 1, also known as tetraamelia syndrome, autosomal recessive, is related to bladder exstrophy and epispadias complex and tetraamelia syndrome. An important gene associated with Tetraamelia Syndrome 1 is WNT3 (Wnt Family Member 3). Affiliated tissues include eye, adrenal gland and uterus, and related phenotypes are hydrocephalus and cataract

Disease Ontology : 12 A tetraamelia syndrome characterized by complete limb agenesis without defects of scapulae or clavicles that has material basis in homozygous or compound heterozygous mutation in WNT3 on chromosome 17q21.31-q21.32.

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) (Updated 20-May-2021)

Related Diseases for Tetraamelia Syndrome 1

Diseases in the Tetraamelia Syndrome family:

Tetraamelia Syndrome 1 Tetraamelia Syndrome 2

Diseases related to Tetraamelia Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 bladder exstrophy and epispadias complex 9.7 WNT3 LRRC37A2
2 tetraamelia syndrome 9.6 WNT3 LRRC37A2
3 amelia 9.6 WNT3 LRRC37A2
4 bladder exstrophy-epispadias-cloacal exstrophy complex 9.5 WNT3 LRRC37A2

Symptoms & Phenotypes for Tetraamelia Syndrome 1

Human phenotypes related to Tetraamelia Syndrome 1:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 31 HP:0000238
2 cataract 31 HP:0000518
3 cleft palate 31 HP:0000175
4 micrognathia 31 HP:0000347
5 low-set ears 31 HP:0000369
6 anal atresia 31 HP:0002023
7 cleft upper lip 31 HP:0000204
8 choanal atresia 31 HP:0000453
9 microphthalmia 31 HP:0000568
10 urethral atresia 31 HP:0000068
11 asplenia 31 HP:0001746
12 single umbilical artery 31 HP:0001195
13 pulmonary hypoplasia 31 HP:0002089
14 renal agenesis 31 HP:0000104
15 gastroschisis 31 HP:0001543
16 vaginal atresia 31 HP:0000148
17 hypoplastic pelvis 31 HP:0008839
18 tetraamelia 31 HP:0003057
19 absent external genitalia 31 HP:0000042
20 hypoplasia of the fallopian tube 31 HP:0008697
21 single naris 31 HP:0009932
22 abnormality of the diaphragm 31 HP:0000775
23 peripheral pulmonary vessel aplasia 31 HP:0005316
24 adrenal gland agenesis 31 HP:0011743

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hydrocephalus

Head And Neck Mouth:
cleft palate
cleft lip

Head And Neck Ears:
low-set ears

Respiratory Nasopharynx:
choanal atresia

Respiratory Lung:
pulmonary hypoplasia
bilobar right lung

Abdomen External Features:
gastroschisis

Genitourinary External Genitalia Male:
absent external genitalia

Cardiovascular Vascular:
peripheral pulmonary vessel aplasia

Chest Diaphragm:
diaphragmatic defect

Skeletal Pelvis:
pelvic hypoplasia

Head And Neck Eyes:
cataract
microphthalmia

Head And Neck Face:
micrognathia

Abdomen Gastrointestinal:
anal atresia

Genitourinary Bladder:
urethral atresia

Genitourinary Kidneys:
renal agenesis

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

Head And Neck Nose:
single naris

Endocrine Features:
adrenal gland agenesis

Abdomen Spleen:
splenic agenesis

Skeletal Limbs:
limb amelia
tetra-amelia

Clinical features from OMIM®:

273395 (Updated 20-May-2021)

Drugs & Therapeutics for Tetraamelia Syndrome 1

Search Clinical Trials , NIH Clinical Center for Tetraamelia Syndrome 1

Genetic Tests for Tetraamelia Syndrome 1

Anatomical Context for Tetraamelia Syndrome 1

MalaCards organs/tissues related to Tetraamelia Syndrome 1:

40
Eye, Adrenal Gland, Uterus, Lung

Publications for Tetraamelia Syndrome 1

Articles related to Tetraamelia Syndrome 1:

# Title Authors PMID Year
1
Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family. 6 57 61
14872406 2004
2
Amelia: a multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature. 57
22002956 2011
3
Tetra-amelia and lung aplasia syndrome: report of a new family and exclusion of candidate genes. 57
16283889 2005
4
Zimmer phocomelia: delineation by principal coordinate analysis. 57
8957512 1996
5
Syndrome of tetraamelia with pulmonary hypoplasia. 57
8256824 1993
6
Recurrent tetraamelia and pulmonary hypoplasia with multiple malformations in sibs. 57
2012129 1991
7
Roberts syndrome or "X-linked amelia"? 57
2260610 1990
8
Tetra-amelia with multiple malformations in six male fetuses of one kindred. 57
4076260 1985

Variations for Tetraamelia Syndrome 1

ClinVar genetic disease variations for Tetraamelia Syndrome 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WNT3 , LRRC37A2 NM_030753.5(WNT3):c.247C>T (p.Gln83Ter) SNV Pathogenic 13812 rs104894653 GRCh37: 17:44851109-44851109
GRCh38: 17:46773743-46773743

Expression for Tetraamelia Syndrome 1

Search GEO for disease gene expression data for Tetraamelia Syndrome 1.

Pathways for Tetraamelia Syndrome 1

GO Terms for Tetraamelia Syndrome 1

Sources for Tetraamelia Syndrome 1

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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