TETAMS2
MCID: TTR029
MIFTS: 24

Tetraamelia Syndrome 2 (TETAMS2)

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

Aliases & Classifications for Tetraamelia Syndrome 2

MalaCards integrated aliases for Tetraamelia Syndrome 2:

Name: Tetraamelia Syndrome 2 57 12 73 29 6
Tetams2 57 12 73
Tetraamelia with Pulmonary Hypoplasia 12 20
Absence of Upper and Lower Limbs with Pulmonary Hypoplasia 20
Syndrome of Tetraamelia with Pulmonary Hypoplasia 20
Tetraamelia Syndrome 2 with Pulmonary Agenesis 57
Tetra-Amelia with Pulmonary Hypoplasia 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

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


HPO:

31
tetraamelia syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112193
OMIM® 57 618021
MeSH 44 D004480

Summaries for Tetraamelia Syndrome 2

UniProtKB/Swiss-Prot : 73 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, also known as tetams2, is related to tetraamelia syndrome 1. An important gene associated with Tetraamelia Syndrome 2 is RSPO2 (R-Spondin 2). Affiliated tissues include heart and testes, and related phenotypes are low-set ears and micropenis

Disease Ontology : 12 A tetraamelia syndrome characterized by rudimentary or absent appendages, bilateral agenesis of the lungs, pulmonary vascular abnormalities, and dysmorphic features that has material basis in homozygous or compound heterozygous mutation in RSPO2 on chromosome 8q23.1.

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) (Updated 05-Mar-2021)

Related Diseases for Tetraamelia Syndrome 2

Diseases in the Tetraamelia Syndrome family:

Tetraamelia Syndrome 1 Tetraamelia Syndrome 2

Diseases related to Tetraamelia Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 tetraamelia syndrome 1 10.2

Symptoms & Phenotypes for Tetraamelia Syndrome 2

Human phenotypes related to Tetraamelia Syndrome 2:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 low-set ears 31 HP:0000369
2 micropenis 31 HP:0000054
3 ventricular septal defect 31 HP:0001629
4 glossoptosis 31 HP:0000162
5 microretrognathia 31 HP:0000308
6 bilateral cleft lip 31 HP:0100336
7 ankyloglossia 31 HP:0010296
8 hypoplastic pulmonary veins 31 HP:0005304

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Ears:
low-set ears
dysmorphic ear

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

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

Head And Neck Eyes:
palpebral fusion

Respiratory Lung:
bilateral pulmonary aplasia

Genitourinary External Genitalia Female:
absence of labial folds

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

Head And Neck Face:
microretrognathia
mandibular hypoplasia
unfused maxillary processes

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

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 (Updated 05-Mar-2021)

Drugs & Therapeutics for Tetraamelia Syndrome 2

Search Clinical Trials , NIH Clinical Center for Tetraamelia Syndrome 2

Genetic Tests for Tetraamelia Syndrome 2

Genetic tests related to Tetraamelia Syndrome 2:

# Genetic test Affiliating Genes
1 Tetraamelia Syndrome 2 29 RSPO2

Anatomical Context for Tetraamelia Syndrome 2

MalaCards organs/tissues related to Tetraamelia Syndrome 2:

40
Heart, Testes

Publications for Tetraamelia Syndrome 2

Articles related to Tetraamelia Syndrome 2:

# Title Authors PMID Year
1
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6. 57 6
29769720 2018
2
Tetra-amelia and lung hypo/aplasia syndrome: new case report and review. 57
18837045 2008
3
Tetra-amelia, lung hypo-/aplasia, cleft lip-palate, and heart defect: a new syndrome? 57
8030673 1994
4
Syndrome of tetraamelia with pulmonary hypoplasia. 61
8256824 1993

Variations for Tetraamelia Syndrome 2

ClinVar genetic disease variations for Tetraamelia Syndrome 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RSPO2 NM_178565.5(RSPO2):c.125del (p.Gly42fs) Deletion Pathogenic 545632 rs1554579568 8:109001442-109001442 8:107989214-107989214
2 RSPO2 NM_178565.5(RSPO2):c.409G>T (p.Glu137Ter) SNV Pathogenic 545633 rs1554576888 8:108972920-108972920 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
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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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