Details of Disease | DrugMAP

General Information of Disease (ID: DIS11Z1N)

Disease Name	Wiedemann-Rautenstrauch syndrome
Synonyms	progeroid syndrome, neonatal; Wiedemann Rautenstrauch syndrome; progeroid syndrome neonatal; neonatal progeroid syndrome; Wiedemann Rautenstrauch Syndrome; Wiedemann-Rautenstrauch syndrome
Definition	Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism.
Disease Hierarchy	DIS3GF09: Progeria DIS6SVEE: Syndromic disease DISEOED3: Osteogenesis imperfecta and a reduction of bone mineral density. DISMFQKM: Developmental anomaly of metabolic origin DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DIS1BE1A: Hereditary lipodystrophy DIS11Z1N: Wiedemann-Rautenstrauch syndrome
Disease Identifiers	MONDO ID MONDO_0009910 MESH ID C536423 UMLS CUI C0406586 OMIM ID 264090 MedGen ID 140806 Orphanet ID 3455 SNOMED CT ID 238874008

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
POLR3A	OT5MSK10	Strong	Autosomal recessive	[1]
POLR3GL	OT694B27	Strong	Biomarker	[2]
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References

1	Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A. Am J Med Genet A. 2016 Dec;170(12):3343-3346. doi: 10.1002/ajmg.a.37960. Epub 2016 Sep 9.
2	A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL.Eur J Hum Genet. 2020 Apr;28(4):461-468. doi: 10.1038/s41431-019-0539-6. Epub 2019 Nov 6.