MCID: PRX083
MIFTS: 12

Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome

MalaCards integrated aliases for Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome:

Name: Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome 58
Pfeiffer Mayer Syndrome 71
Pfeiffer-Mayer Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
preaxial polydactyly-colobomata-intellectual disability syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q87.2
UMLS via Orphanet 72 C2931655
Orphanet 58 ORPHA2921
UMLS 71 C2931655

Summaries for Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome

MalaCards based summary : Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome, also known as pfeiffer mayer syndrome, is related to pfeiffer mayer syndrome. Related phenotypes are intellectual disability and global developmental delay

Related Diseases for Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome

Diseases related to Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pfeiffer mayer syndrome 11.7

Symptoms & Phenotypes for Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome

Human phenotypes related to Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
3 chorioretinal coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000567
4 preaxial polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0100258
5 retinal coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000480
6 iris coloboma 31 frequent (33%) HP:0000612
7 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
8 severely reduced visual acuity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001141
9 angle closure glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0012109
10 moderately reduced visual acuity 58 31 occasional (7.5%) Occasional (29-5%) HP:0030515
11 iridoretinal coloboma 58 Frequent (79-30%)

Drugs & Therapeutics for Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome

Search Clinical Trials , NIH Clinical Center for Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome

Genetic Tests for Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome

Anatomical Context for Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome

Publications for Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome

Variations for Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome

Expression for Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome

Search GEO for disease gene expression data for Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome.

Pathways for Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome

GO Terms for Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome

Sources for Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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