Robinow-Sorauf Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Robinow-Sorauf Syndrome

MalaCards integrated aliases for Robinow-Sorauf Syndrome:

Name: Robinow-Sorauf Syndrome ⁵⁷ ⁷³ ²⁹ ¹³ ⁶

Craniosynostosis-Bifid Hallux Syndrome ⁵⁷ ⁷³

Acrocephalosyndactyly, Robinow-Sorauf Type ⁵⁷

Acrocephalosyndactyly Robinow-Sorauf Type ⁷³

Syndrome, Robinow-Sorauf ³⁹

Robinow Sorauf Syndrome ⁷¹

Rss ⁷³

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal dominant
? same as saethre-chotzen syndrome

HPO:

³¹

robinow-sorauf syndrome:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 180750

MeSH ⁴⁴ D000168

MedGen ⁴¹ C1867146

SNOMED-CT via HPO ⁶⁸ 128602000 194021007 21850008 more

UMLS ⁷¹ C1867146

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Summaries for Robinow-Sorauf Syndrome

UniProtKB/Swiss-Prot : ⁷³ Robinow-Sorauf syndrome: An autosomal dominant syndrome characterized by craniosynostosis, asymmetry of orbits, flat face, hypertelorism, a thin, long, and pointed nose, shallow orbits, strabismus, and broad great toes with a duplication of the distal phalanx. RSS is clinically similar to Saethre-Chotzen syndrome, with the most characteristic additional feature in Robinow-Sorauf syndrome being a bifid or partially duplicated hallux.

MalaCards based summary : Robinow-Sorauf Syndrome, also known as craniosynostosis-bifid hallux syndrome, is related to silver-russell syndrome 1 and rigid spine muscular dystrophy 1. An important gene associated with Robinow-Sorauf Syndrome is TWIST1 (Twist Family BHLH Transcription Factor 1). Related phenotypes are hypertelorism and strabismus

More information from OMIM: 180750

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Related Diseases for Robinow-Sorauf Syndrome

Diseases related to Robinow-Sorauf Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)

#	Related Disease	Score
1	silver-russell syndrome 1	11.6
2	rigid spine muscular dystrophy 1	11.5
3	saethre-chotzen syndrome	10.4
4	craniosynostosis	10.2
5	thrombophilia	10.0
6	endometrial cancer	9.9
7	myelodysplastic syndrome	9.9
8	dengue virus	9.9
9	scoliosis	9.9
10	myelomeningocele	9.9
11	urinary tract infection	9.9
12	spinal muscular atrophy	9.9
13	severe combined immunodeficiency	9.9
14	muscular atrophy	9.9

Graphical network of the top 20 diseases related to Robinow-Sorauf Syndrome:

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Symptoms & Phenotypes for Robinow-Sorauf Syndrome

Human phenotypes related to Robinow-Sorauf Syndrome:

³¹ (show all 10)

#	Description	HPO Source Accession
1	hypertelorism ³¹	HP:0000316
2	strabismus ³¹	HP:0000486
3	flat face ³¹	HP:0012368
4	malar flattening ³¹	HP:0000272
5	plagiocephaly ³¹	HP:0001357
6	long nose ³¹	HP:0003189
7	broad hallux ³¹	HP:0010055
8	shallow orbits ³¹	HP:0000586
9	narrow nose ³¹	HP:0000460
10	duplication of phalanx of hallux ³¹	HP:0010066

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Eyes:
hypertelorism
strabismus
shallow orbits
plagiocephaly (asymmetry of orbits)

Limbs:
broad great toes
duplicated great toe distal phalanx

Facies:
flat facies
thin, long, pointed nose

Clinical features from OMIM®:

180750 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Robinow-Sorauf Syndrome

Search Clinical Trials , NIH Clinical Center for Robinow-Sorauf Syndrome

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Genetic Tests for Robinow-Sorauf Syndrome

Genetic tests related to Robinow-Sorauf Syndrome:

#	Genetic test	Affiliating Genes
1	Robinow-Sorauf Syndrome ²⁹	TWIST1

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Anatomical Context for Robinow-Sorauf Syndrome

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Publications for Robinow-Sorauf Syndrome

Articles related to Robinow-Sorauf Syndrome:

#	Title	Authors	PMID	Year
1	A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome. ⁵⁷ ⁶ ⁶¹	Cai J...Jabs EW	12791045	2003
2	Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome. ⁶ ⁵⁷ ⁶¹	Kunz J...Fritz B	10465122	1999
3	Saethre-Chotzen syndrome. ⁵⁷	Reardon W...Winter RM	8064818	1994
4	A family study of craniosynostosis, with probable recognition of a distinct syndrome. ⁵⁷	Carter CO...Coffey R	7120316	1982
5	An unusual form of familial acrocephalosyndactyly. ⁵⁷	Young ID...Harper PS	7120317	1982
6	Acrocephalopolysyndactyly, type Noack, in a large kindred. ⁶	Robinow M...Sorauf TJ	1240778	1975
7	A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome. ⁶¹	Thakur AR...Naikmasur VG	25565733	2014
8	Familial Saethre-Chotzen syndrome with or without polydactyly of the toe. ⁶¹	Shidayama R...Fujii T	7793794	1995

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Genes for Robinow-Sorauf Syndrome

Genes related to Robinow-Sorauf Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TWIST1	Twist Family BHLH Transcription Factor 1	Protein Coding	1027.25	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Variants (show sections)	10465122 12791045

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Variations for Robinow-Sorauf Syndrome

ClinVar genetic disease variations for Robinow-Sorauf Syndrome:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TWIST1	NM_000474.4(TWIST1):c.460dup (p.Arg154fs)	Duplication	Pathogenic	7981	rs1585616860	7:19156484-19156485	7:19116861-19116862
2	TWIST1	NM_000474.4(TWIST1):c.211C>T (p.Gln71Ter)	SNV	Pathogenic	7984	rs104894065	7:19156734-19156734	7:19117111-19117111
3	TWIST1	NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser)	SNV	Uncertain significance	235255	rs878852992	7:19156851-19156851	7:19117228-19117228

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Expression for Robinow-Sorauf Syndrome

Search GEO for disease gene expression data for Robinow-Sorauf Syndrome.

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Pathways for Robinow-Sorauf Syndrome

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GO Terms for Robinow-Sorauf Syndrome

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Robinow-Sorauf Syndrome (RSS)

Aliases & Classifications for Robinow-Sorauf Syndrome

MalaCards integrated aliases for Robinow-Sorauf Syndrome:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Robinow-Sorauf Syndrome

Related Diseases for Robinow-Sorauf Syndrome

Diseases related to Robinow-Sorauf Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Robinow-Sorauf Syndrome:

Symptoms & Phenotypes for Robinow-Sorauf Syndrome

Human phenotypes related to Robinow-Sorauf Syndrome:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Robinow-Sorauf Syndrome

Genetic Tests for Robinow-Sorauf Syndrome

Genetic tests related to Robinow-Sorauf Syndrome:

Anatomical Context for Robinow-Sorauf Syndrome

Publications for Robinow-Sorauf Syndrome

Articles related to Robinow-Sorauf Syndrome:

Genes for Robinow-Sorauf Syndrome

Genes related to Robinow-Sorauf Syndrome (1 elite genes):

Variations for Robinow-Sorauf Syndrome

ClinVar genetic disease variations for Robinow-Sorauf Syndrome:

Expression for Robinow-Sorauf Syndrome

Pathways for Robinow-Sorauf Syndrome

GO Terms for Robinow-Sorauf Syndrome

Sources for Robinow-Sorauf Syndrome