MCID: TBB001
MIFTS: 10

Tibia Absent Polydactyly Arachnoid Cyst

Categories: Rare diseases

Aliases & Classifications for Tibia Absent Polydactyly Arachnoid Cyst

MalaCards integrated aliases for Tibia Absent Polydactyly Arachnoid Cyst:

Name: Tibia Absent Polydactyly Arachnoid Cyst 49 69
Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 49
Absence/hypoplasia of Tibia, Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 49
Holmes Collins Syndrome 49

Classifications:



External Ids:

UMLS 69 C2931368

Summaries for Tibia Absent Polydactyly Arachnoid Cyst

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3328Disease definitionTibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia.EpidemiologyIt has been described in 3 sibs (two males and one female).Clinical descriptionThe syndrome is characterized by absence or hypoplasia of the tibia, pre and postaxial polydactyly of the hands and/or feet, syndactyly of the toes, shortening and bowing of other long bones, and retrocerebellar arachnoid cyst.Genetic counselingParental consanguinity reported in the family suggests an autosomal recessive pattern of inheritance.Visit the Orphanet disease page for more resources. Last updated: 12/31/2010

MalaCards based summary : Tibia Absent Polydactyly Arachnoid Cyst, also known as tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies, is related to tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies and polydactyly. Affiliated tissues include bone.

Related Diseases for Tibia Absent Polydactyly Arachnoid Cyst

Diseases related to Tibia Absent Polydactyly Arachnoid Cyst via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies 12.7
2 polydactyly 10.4
3 arachnoiditis 10.4
4 arachnoid cysts 10.4

Symptoms & Phenotypes for Tibia Absent Polydactyly Arachnoid Cyst

Drugs & Therapeutics for Tibia Absent Polydactyly Arachnoid Cyst

Search Clinical Trials , NIH Clinical Center for Tibia Absent Polydactyly Arachnoid Cyst

Genetic Tests for Tibia Absent Polydactyly Arachnoid Cyst

Anatomical Context for Tibia Absent Polydactyly Arachnoid Cyst

MalaCards organs/tissues related to Tibia Absent Polydactyly Arachnoid Cyst:

38
Bone

Publications for Tibia Absent Polydactyly Arachnoid Cyst

Articles related to Tibia Absent Polydactyly Arachnoid Cyst:

# Title Authors Year
1
Absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies: an autosomal recessive disorder. ( 8592337 )
1995

Variations for Tibia Absent Polydactyly Arachnoid Cyst

Expression for Tibia Absent Polydactyly Arachnoid Cyst

Search GEO for disease gene expression data for Tibia Absent Polydactyly Arachnoid Cyst.

Pathways for Tibia Absent Polydactyly Arachnoid Cyst

GO Terms for Tibia Absent Polydactyly Arachnoid Cyst

Sources for Tibia Absent Polydactyly Arachnoid Cyst

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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47 NDF-RT
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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