Details of Disease | DrugMAP

General Information of Disease (ID: DISTTV0J)

Disease Name	Tetraamelia-multiple malformations syndrome
Synonyms	Tetraamelia multiple malformations X-linked; TETRAAMELIA syndrome, autosomal recessive; TETAMS; Zimmer Taub Sova syndrome; Zimmer phocomelia
Definition	Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
Disease Hierarchy	DISYKSRF: Genetic disease DIS3LICD: Congenital limb malformation DISHPNVX: Dysplasia DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability DISTTV0J: Tetraamelia-multiple malformations syndrome
Disease Identifiers	MONDO ID MONDO_0010110 MESH ID C536500 UMLS CUI C2931218 MedGen ID 419746 Orphanet ID 3301 SNOMED CT ID 716249009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
WNT3	OTT02WJ0	Supportive	Autosomal recessive	[1]
RSPO2	OT3HHXU0	Supportive	Autosomal recessive	[2]
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References

1	Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family. Am J Hum Genet. 2004 Mar;74(3):558-63. doi: 10.1086/382196. Epub 2004 Feb 5.
2	RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6. Nature. 2018 May;557(7706):564-569. doi: 10.1038/s41586-018-0118-y. Epub 2018 May 16.