MCID: THR039
MIFTS: 12

Thrombocytopenia Robin Sequence

Categories: Rare diseases, Fetal diseases, Blood diseases

Aliases & Classifications for Thrombocytopenia Robin Sequence

MalaCards integrated aliases for Thrombocytopenia Robin Sequence:

Name: Thrombocytopenia Robin Sequence 53 73
Congenital Thrombocytopenia, Robin Sequence, Agenesis of the Corpus Callosum, Distinctive Facies and Developmental Delay 53
Thrombocytopenia-Robin Sequence Syndrome 59
Braddock Carey Syndrome 53
Braddock-Carey Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
thrombocytopenia-robin sequence syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA3323
MESH via Orphanet 45 C536898
UMLS via Orphanet 74 C2931364
UMLS 73 C2931364

Summaries for Thrombocytopenia Robin Sequence

MalaCards based summary : Thrombocytopenia Robin Sequence, also known as congenital thrombocytopenia, robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay, is related to alacrima, achalasia, and mental retardation syndrome and jacobsen syndrome. An important gene associated with Thrombocytopenia Robin Sequence is KIF15 (Kinesin Family Member 15).

Related Diseases for Thrombocytopenia Robin Sequence

Diseases related to Thrombocytopenia Robin Sequence via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.3
2 jacobsen syndrome 10.2
3 thrombocytopenia 9.9
4 isolated pierre robin sequence 9.9

Symptoms & Phenotypes for Thrombocytopenia Robin Sequence

Drugs & Therapeutics for Thrombocytopenia Robin Sequence

Search Clinical Trials , NIH Clinical Center for Thrombocytopenia Robin Sequence

Genetic Tests for Thrombocytopenia Robin Sequence

Anatomical Context for Thrombocytopenia Robin Sequence

Publications for Thrombocytopenia Robin Sequence

Articles related to Thrombocytopenia Robin Sequence:

# Title Authors Year
1
A new syndrome: congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay. ( 7515754 )
1994

Variations for Thrombocytopenia Robin Sequence

Expression for Thrombocytopenia Robin Sequence

Search GEO for disease gene expression data for Thrombocytopenia Robin Sequence.

Pathways for Thrombocytopenia Robin Sequence

GO Terms for Thrombocytopenia Robin Sequence

Sources for Thrombocytopenia Robin Sequence

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....