MCID: TBB005
MIFTS: 19

Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies

Categories: Bone diseases, Fetal diseases, Rare diseases
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Aliases & Classifications for Tibia, Absence or Hypoplasia of, with Polydactyly,...

MalaCards integrated aliases for Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies:

Name: Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 57 19
Absent Tibia-Polydactyly-Arachnoid Cyst Syndrome 58 75
Tibia Absent Polydactyly Arachnoid Cyst 19 71
Absence/hypoplasia of Tibia, Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 19
Holmes Collins Syndrome 19
Holmes-Collins Syndrome 58

Characteristics:


Inheritance:

Autosomal recessive 57

Prevelance:

Absent Tibia-Polydactyly-Arachnoid Cyst Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Absent Tibia-Polydactyly-Arachnoid Cyst Syndrome: Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 601027
MESH via Orphanet 44 C536918
UMLS via Orphanet 72 C2931368
Orphanet 58 ORPHA3328
MedGen 40 C1832859
UMLS 71 C2931368

Summaries for Tibia, Absence or Hypoplasia of, with Polydactyly,...

GARD: 19 Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia.

MalaCards based summary: Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies, also known as absent tibia-polydactyly-arachnoid cyst syndrome, is related to polycystic liver disease 1 with or without kidney cysts and arachnoid cysts, intracranial. Affiliated tissues include bone, and related phenotypes are talipes equinovarus and cleft upper lip

Orphanet: 58 Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia.

Wikipedia: 75 Absent tibia-polydactyly-arachnoid cyst syndrome, also known as Holmes-Collins syndrome, is a very rare... more...

More information from OMIM: 601027

Related Diseases for Tibia, Absence or Hypoplasia of, with Polydactyly,...

Diseases related to Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 polycystic liver disease 1 with or without kidney cysts 10.6
2 arachnoid cysts, intracranial 10.6
3 polydactyly 10.6

Symptoms & Phenotypes for Tibia, Absence or Hypoplasia of, with Polydactyly,...

Human phenotypes related to Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies:

30 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 talipes equinovarus 30 HP:0001762
2 cleft upper lip 30 HP:0000204
3 postaxial foot polydactyly 30 HP:0001830
4 radial bowing 30 HP:0002986
5 aplasia/hypoplasia of the tibia 30 HP:0005772
6 preaxial foot polydactyly 30 HP:0001841
7 choroid plexus cyst 30 HP:0002190
8 arachnoid cyst 30 HP:0100702
9 posterior fossa cyst 30 HP:0007291
10 abnormal thorax morphology 30 HP:0000765
11 agenesis of the diaphragm 30 HP:0008986

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Limbs:
absent/hypoplastic tibia. bowed radius and ulna. postaxial polydactyly of hands. postaxial polydactyly of feet. preaxial polydactyly of feet. clubfoot.

Thorax:
absent diaphragm.

Mouth:
cleft lip.

Neuro:
posterior fossa cyst. choroid plexus cyst.

Clinical features from OMIM®:

601027 (Updated 24-Oct-2022)

Drugs & Therapeutics for Tibia, Absence or Hypoplasia of, with Polydactyly,...

Search Clinical Trials, NIH Clinical Center for Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies

Genetic Tests for Tibia, Absence or Hypoplasia of, with Polydactyly,...

Anatomical Context for Tibia, Absence or Hypoplasia of, with Polydactyly,...

Organs/tissues related to Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies:

MalaCards : Bone

Publications for Tibia, Absence or Hypoplasia of, with Polydactyly,...

Articles related to Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies:

# Title Authors PMID Year
1
Absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies: an autosomal recessive disorder. 62 57
8592337 1995

Variations for Tibia, Absence or Hypoplasia of, with Polydactyly,...

Expression for Tibia, Absence or Hypoplasia of, with Polydactyly,...

Search GEO for disease gene expression data for Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies.

Pathways for Tibia, Absence or Hypoplasia of, with Polydactyly,...

GO Terms for Tibia, Absence or Hypoplasia of, with Polydactyly,...

Sources for Tibia, Absence or Hypoplasia of, with Polydactyly,...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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