TETAMS1
MCID: TTR028
MIFTS: 23

Tetraamelia Syndrome 1 (TETAMS1)

Categories: Cardiovascular diseases, Endocrine diseases, Genetic diseases, Nephrological diseases, Respiratory diseases

Aliases & Classifications for Tetraamelia Syndrome 1

MalaCards integrated aliases for Tetraamelia Syndrome 1:

Name: Tetraamelia Syndrome 1 57 75
Tetraamelia Syndrome, Autosomal Recessive 57 75
Tetams1 57 75
Autosomal Recessive Tetra-Amelia 75
Tetra-Amelia Syndrome 1 57

Characteristics:

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 1:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Tetraamelia Syndrome 1

UniProtKB/Swiss-Prot : 75 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 tetra-amelia syndrome. An important gene associated with Tetraamelia Syndrome 1 is WNT3 (Wnt Family Member 3). Affiliated tissues include lung, ovary and adrenal gland, and related phenotypes are low-set ears 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)

Related Diseases for Tetraamelia Syndrome 1

Diseases in the Tetraamelia Syndrome 1 family:

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 tetra-amelia syndrome 11.7

Symptoms & Phenotypes for Tetraamelia Syndrome 1

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

Respiratory Lung:
pulmonary hypoplasia
bilobar right lung

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

Genitourinary Kidneys:
renal agenesis

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

Genitourinary External Genitalia Male:
absent external genitalia

Abdomen Spleen:
splenic agenesis

Skeletal Pelvis:
pelvic hypoplasia

Endocrine Features:
adrenal gland agenesis


Clinical features from OMIM:

273395

Human phenotypes related to Tetraamelia Syndrome 1:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 hydrocephalus 32 HP:0000238
3 cataract 32 HP:0000518
4 cleft palate 32 HP:0000175
5 micrognathia 32 HP:0000347
6 microphthalmia 32 HP:0000568
7 anal atresia 32 HP:0002023
8 choanal atresia 32 HP:0000453
9 hypoplastic pelvis 32 HP:0008839
10 cleft upper lip 32 HP:0000204
11 urethral atresia 32 HP:0000068
12 asplenia 32 HP:0001746
13 abnormality of the diaphragm 32 HP:0000775
14 pulmonary hypoplasia 32 HP:0002089
15 single umbilical artery 32 HP:0001195
16 renal agenesis 32 HP:0000104
17 gastroschisis 32 HP:0001543
18 vaginal atresia 32 HP:0000148
19 single naris 32 HP:0009932
20 tetraamelia 32 HP:0003057
21 absent external genitalia 32 HP:0000042
22 peripheral pulmonary vessel aplasia 32 HP:0005316
23 adrenal gland agenesis 32 HP:0011743
24 hypoplasia of the fallopian tube 32 HP:0008697

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:

41
Lung, Ovary, Adrenal Gland, Uterus

Publications for Tetraamelia Syndrome 1

Variations for Tetraamelia Syndrome 1

ClinVar genetic disease variations for Tetraamelia Syndrome 1:

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 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 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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