TETAMS2
MCID: TTR029
MIFTS: 18

Tetraamelia Syndrome 2 (TETAMS2)

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

Aliases & Classifications for Tetraamelia Syndrome 2

MalaCards integrated aliases for Tetraamelia Syndrome 2:

Name: Tetraamelia Syndrome 2 58 76 6
Tetams2 58 76
Tetraamelia Syndrome 2 with Pulmonary Agenesis 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
intrafamilial phenotypic variability
limb anomalies are usually symmetric
patients have normal clavicles, scapulae, and pelvis


Classifications:



External Ids:

OMIM 58 618021
MeSH 45 D004480
MedGen 43 CN248528

Summaries for Tetraamelia Syndrome 2

UniProtKB/Swiss-Prot : 76 Tetraamelia syndrome 2: 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. TETAMS2 patients manifest limb deformities, bilateral agenesis of the lungs, abnormalities of the pulmonary vasculature, labioscrotal fold aplasia, and dysmorphic features including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, and microretrognathia. TETAMS2 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Tetraamelia Syndrome 2, is also known as tetams2. An important gene associated with Tetraamelia Syndrome 2 is RSPO2 (R-Spondin 2). Affiliated tissues include testes, and related phenotypes are low-set ears and glossoptosis

OMIM : 58 Tetraamelia syndrome-2 (TETAMS2) is characterized by rudimentary appendages or complete absence of the limbs, usually symmetric, as well as bilateral agenesis of the lungs. There are abnormalities of the pulmonary vasculature and dysmorphic features, including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, microretrognathia, and labioscrotal fold aplasia (Szenker-Ravi et al., 2018). For a discussion of genetic heterogeneity of TETAMS, see 273395. (618021)

Related Diseases for Tetraamelia Syndrome 2

Diseases in the Tetraamelia Syndrome 1 family:

Tetraamelia Syndrome 2

Symptoms & Phenotypes for Tetraamelia Syndrome 2

Human phenotypes related to Tetraamelia Syndrome 2:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 low-set ears 33 HP:0000369
2 glossoptosis 33 HP:0000162
3 ventricular septal defect 33 HP:0001629
4 microretrognathia 33 HP:0000308
5 micropenis 33 HP:0000054
6 ankyloglossia 33 HP:0010296
7 hypoplastic pulmonary veins 33 HP:0005304

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
dysmorphic ear

Cardiovascular Heart:
ventricular septal defect
mitral valve aplasia
small right heart

Genitourinary External Genitalia Male:
small penis
intraabdominal testes
absence of scrotum

Head And Neck Eyes:
palpebral fusion

Respiratory Lung:
bilateral pulmonary aplasia

Genitourinary External Genitalia Female:
absence of labial folds

Head And Neck Mouth:
glossoptosis
ankyloglossia
bilateral cleft lip/palate
short frenulum

Head And Neck Face:
microretrognathia
mandibular hypoplasia
unfused maxillary processes

Cardiovascular Vascular:
hypoplastic pulmonary veins
agenesis of pulmonary artery
agenesis of branches of pulmonary artery

Respiratory Airways:
bronchial tree branching at lower level than normal

Chest Breasts:
absence of nipples

Skeletal Limbs:
complete absence of upper limbs
rudimentary upper appendages
absence of upper extremity below the elbow
complete absence of lower limbs
rudimentary lower appendages
more

Clinical features from OMIM:

618021

Drugs & Therapeutics for Tetraamelia Syndrome 2

Search Clinical Trials , NIH Clinical Center for Tetraamelia Syndrome 2

Genetic Tests for Tetraamelia Syndrome 2

Anatomical Context for Tetraamelia Syndrome 2

MalaCards organs/tissues related to Tetraamelia Syndrome 2:

42
Testes

Publications for Tetraamelia Syndrome 2

Articles related to Tetraamelia Syndrome 2:

# Title Authors Year
1
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6. ( 29769720 )
2018

Variations for Tetraamelia Syndrome 2

ClinVar genetic disease variations for Tetraamelia Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RSPO2 NM_178565.4(RSPO2): c.125del (p.Gly42Valfs) deletion Pathogenic rs1554579568 GRCh38 Chromosome 8, 107989214: 107989214
2 RSPO2 NM_178565.4(RSPO2): c.125del (p.Gly42Valfs) deletion Pathogenic rs1554579568 GRCh37 Chromosome 8, 109001442: 109001442
3 RSPO2 NM_178565.4(RSPO2): c.409G> T (p.Glu137Ter) single nucleotide variant Pathogenic rs1554576888 GRCh37 Chromosome 8, 108972920: 108972920
4 RSPO2 NM_178565.4(RSPO2): c.409G> T (p.Glu137Ter) single nucleotide variant Pathogenic rs1554576888 GRCh38 Chromosome 8, 107960692: 107960692

Expression for Tetraamelia Syndrome 2

Search GEO for disease gene expression data for Tetraamelia Syndrome 2.

Pathways for Tetraamelia Syndrome 2

GO Terms for Tetraamelia Syndrome 2

Sources for Tetraamelia Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....