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 53 73
Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 53
Absence/hypoplasia of Tibia, Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 53
Holmes Collins Syndrome 53

Classifications:



External Ids:

UMLS 73 C2931368

Summaries for Tibia Absent Polydactyly Arachnoid Cyst

NIH Rare Diseases : 53 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.

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:

41
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
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
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