Rapadilino Syndrome malady

Wikipedia: Rapadilino syndrome is an autosomal recessivecongenital disorder characterized by radial and patellar...⁴⁴ more...

MalaCards: Rapadilino Syndrome, also known as absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate, is related to mayer-rokitansky-kuster-hauser syndrome and imperforate anus. An important gene associated with Rapadilino Syndrome is RECQL4 (RecQ protein-like 4), and among its related pathways is DNA Damage. The compounds hydroxyurea and phosphoric acid have been mentioned in the context of this disorder. Related mouse phenotypes are digestive/alimentary and endocrine/exocrine gland.

OMIM: 266280

rapadilino syndrome 7 30 16 33 32 43 absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate 30

radial and patellar hypoplasia 30 radial and patellar aplasia 30

Diseases related to rapadilino syndrome by text searches and GeneDecks gene sharing:

id	Related Disease	Score	Top Affiliating Genes
1	mayer-rokitansky-kuster-hauser syndrome	12.4	RECQL4, WRN
2	imperforate anus	12.4	RECQL4, UBR1
3	bloom syndrome	12.3	WRN, RECQL4
4	johanson-blizzard syndrome	12.2	UBR2, UBR1
5	vitelliform macular dystrophy	12.1	UBR1, UBR2
6	werner syndrome	12.1	RECQL4, WRN
7	macular dystrophy	12.0	UBR2, UBR1
8	rothmund-thomson syndrome	11.8	WRN, UBR2, RECQL4
9	baller-gerold syndrome	6.4

Clinical features from OMIM: 266280

Approved drugs:

Drug clinical trials:

MGI Mouse Phenotypes related to rapadilino syndrome:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	digestive/alimentary phenotype	MP:0005381	8.7	UBR1, WRN, RECQL4
2	endocrine/exocrine gland phenotype	MP:0005379	8.5	UBR1, WRN, UBR2
3	cellular phenotype	MP:0005384	8.1	WRN, UBR1, UBR2, RECQL4
4	growth/size phenotype	MP:0005378	8.0	RECQL4, UBR2, UBR1, WRN
5	mortality/aging	MP:0010768	7.7	UBR1, WRN, UBR2, RECQL4

Articles related to rapadilino syndrome:

id	Title	Authors	Year	Affiliating Genes
1	RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. (15317757)	Yin J.... Wang W.	2004	RECQL4, UBR2, UBR1
2	Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. (12952869)	Siitonen H.A.... Kestilae M.	2003	WRN, RECQL4

Genes related to rapadilino syndrome according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	RECQL4	RecQ protein-like 4	11.0	Publications
2	UBR1	ubiquitin protein ligase E3 component n-recognin 1	11.0	Publications
3	UBR2	ubiquitin protein ligase E3 component n-recognin 2	11.0	Publications
4	WRN	Werner syndrome, RecQ helicase-like	11.0	Publications

Pathways related to rapadilino syndrome according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	DNA Damage3	9.4	RECQL4, WRN

Compounds related to rapadilino syndrome according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	hydroxyurea32 9 9	11.3	RECQL4, WRN
2	phosphoric acid32 18	10.0	UBR2, UBR1
3	Adenosine monophosphate9 18 9	10.7	UBR2, UBR1

Cellular components related to rapadilino syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	ubiquitin ligase complex	GO:000151	9.0	UBR2, UBR1

Biological processes related to rapadilino syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	DNA duplex unwinding	GO:032508	9.4	RECQL4, WRN
2	DNA recombination	GO:006310	9.3	WRN, RECQL4
3	cellular response to leucine	GO:071233	9.1	UBR1, UBR2
4	DNA replication	GO:006260	9.1	WRN, RECQL4
5	negative regulation of TOR signaling cascade	GO:032007	9.1	UBR1, UBR2
6	ubiquitin-dependent protein catabolic process	GO:006511	9.0	UBR2, UBR1

Molecular functions related to rapadilino syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	ATP-dependent 3-5 DNA helicase activity	GO:043140	9.3	RECQL4, WRN
2	bubble DNA binding	GO:000405	9.1	RECQL4, WRN
3	leucine binding	GO:070728	9.0	UBR2, UBR1
4	ubiquitin-protein ligase activity	GO:004842	9.0	UBR2, UBR1