Details of Disease | DrugMAP

General Information of Disease (ID: DISJX57C)

Disease Name	Rapadilino syndrome
Synonyms	absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate; radial and patellar aplasia; radial and patellar hypoplasia; rapadilino syndrome
Definition	RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DIS3LICD: Congenital limb malformation DIS5M94B: Non-syndromic limb reduction defect DISHPNVX: Dysplasia DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability DISJX57C: Rapadilino syndrome
Disease Identifiers	MONDO ID MONDO_0009955 MESH ID C535288 UMLS CUI C1849453 OMIM ID 266280 MedGen ID 336602 Orphanet ID 3021 SNOMED CT ID 702413000

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
HFM1	OTHV3EFE	moderate	Genetic Variation	[1]
RECQL4	OT59LSW7	Strong	Autosomal recessive	[2]
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References

1	A patient with Rothmund-Thomson syndrome and all features of RAPADILINO.Arch Dermatol. 2005 May;141(5):617-20. doi: 10.1001/archderm.141.5.617.
2	Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst. 2003 May 7;95(9):669-74. doi: 10.1093/jnci/95.9.669.