TETAMS2
MCID: TTR029
MIFTS: 17

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 57 75 6
Tetams2 57 75
Tetraamelia Syndrome 2 with Pulmonary Agenesis 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 618021
MedGen 42 CN248528
MeSH 44 D004480

Summaries for Tetraamelia Syndrome 2

UniProtKB/Swiss-Prot : 75 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 lung, heart and testes.

OMIM : 57 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

Symptoms via clinical synopsis from OMIM:

57
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:

41
Lung, Heart, Testes

Publications for Tetraamelia Syndrome 2

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 GRCh38 Chromosome 8, 107989214: 107989214
2 RSPO2 NM_178565.4(RSPO2): c.125del (p.Gly42Valfs) deletion Pathogenic GRCh37 Chromosome 8, 109001442: 109001442
3 RSPO2 NM_178565.4(RSPO2): c.409G> T (p.Glu137Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 108972920: 108972920
4 RSPO2 NM_178565.4(RSPO2): c.409G> T (p.Glu137Ter) single nucleotide variant Pathogenic 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 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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