MCID: MCR282
MIFTS: 16

Microcephaly and Chorioretinopathy 1

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Microcephaly and Chorioretinopathy 1

MalaCards integrated aliases for Microcephaly and Chorioretinopathy 1:

Name: Microcephaly and Chorioretinopathy 1 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0080105

Summaries for Microcephaly and Chorioretinopathy 1

Disease Ontology : 12 A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has material basis in homozygous or compound heterozygous mutation in the TUBGCP6 gene.

MalaCards based summary : Microcephaly and Chorioretinopathy 1 is related to charcot-marie-tooth disease, x-linked recessive, 2 and pica disease. An important gene associated with Microcephaly and Chorioretinopathy 1 is TUBGCP6 (Tubulin Gamma Complex Associated Protein 6). Related phenotypes are growth/size/body region and craniofacial

Related Diseases for Microcephaly and Chorioretinopathy 1

Diseases in the Microcephaly Chorioretinopathy Recessive Form family:

Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2
Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 Microcephaly and Chorioretinopathy 1
Microcephaly and Chorioretinopathy 2 Microcephaly and Chorioretinopathy 3
Microcephaly with Chorioretinopathy, Autosomal Dominant Form Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

Diseases related to Microcephaly and Chorioretinopathy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, x-linked recessive, 2 10.1 SMAD9 PES1
2 pica disease 10.1 PES1 LIG3
3 bursitis 10.1 PES1 ALPL
4 corpus callosum lipoma 10.0 PES1 LIG3
5 cerebral hemisphere lipoma 10.0 PES1 LIG3
6 teeth hard tissue disease 9.9 FAM20C FAM20A
7 exophthalmos 9.9 TPO FAM20C
8 raine syndrome 9.9 FGF23 FAM20C
9 orange allergy 9.9 TPO TBL1X
10 methylmalonic aciduria, cbla type 9.9 TPO TBL1X
11 balantidiasis 9.8 TPO TBL1X
12 hypophosphatemic rickets, x-linked dominant 9.8 FGF23 FAM20C
13 autosomal recessive hypophosphatemic rickets 9.8 FGF23 FAM20C
14 hypophosphatemic rickets, autosomal dominant 9.8 FGF23 FAM20C
15 polycystic kidney disease 4 9.7 FGF23 ELN
16 nephrolithiasis/osteoporosis, hypophosphatemic, 1 9.7 SMAD9 FGF23
17 phosphorus metabolism disease 9.7 FGF23 FAM20C
18 atrial heart septal defect 9.7 SMAD9 PES1 ELN
19 patent foramen ovale 9.7 SMAD9 PES1 ELN
20 arterial calcification of infancy 9.7 FGF23 ALPL
21 osteomalacia 9.6 FGF23 FAM20C ALPL
22 hypophosphatemia 9.6 FGF23 FAM20C ALPL
23 tumoral calcinosis, hyperphosphatemic, familial, 1 9.6 FGF23 FAM20C
24 spinocerebellar ataxia 29 9.6 TPO TBL1X PES1
25 nephrocalcinosis 9.4 FGF23 FAM20C FAM20A ALPL
26 pulmonary emphysema 9.2 FGF23 ELN

Graphical network of the top 20 diseases related to Microcephaly and Chorioretinopathy 1:



Diseases related to Microcephaly and Chorioretinopathy 1

Symptoms & Phenotypes for Microcephaly and Chorioretinopathy 1

MGI Mouse Phenotypes related to Microcephaly and Chorioretinopathy 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.76 ALPL FAM20A FAM20C FGF23 LIG3 PES1
2 craniofacial MP:0005382 9.73 ALPL FAM20A FAM20C PES1 SMAD9 TPO
3 limbs/digits/tail MP:0005371 9.43 ALPL FAM20A FAM20C FGF23 SMAD9 TPO
4 skeleton MP:0005390 9.1 ALPL FAM20A FAM20C FGF23 SMAD9 TPO

Drugs & Therapeutics for Microcephaly and Chorioretinopathy 1

Search Clinical Trials , NIH Clinical Center for Microcephaly and Chorioretinopathy 1

Genetic Tests for Microcephaly and Chorioretinopathy 1

Anatomical Context for Microcephaly and Chorioretinopathy 1

Publications for Microcephaly and Chorioretinopathy 1

Variations for Microcephaly and Chorioretinopathy 1

Expression for Microcephaly and Chorioretinopathy 1

Search GEO for disease gene expression data for Microcephaly and Chorioretinopathy 1.

Pathways for Microcephaly and Chorioretinopathy 1

GO Terms for Microcephaly and Chorioretinopathy 1

Biological processes related to Microcephaly and Chorioretinopathy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enamel mineralization GO:0070166 8.96 FAM20C FAM20A
2 biomineral tissue development GO:0031214 8.8 FAM20C FAM20A ALPL

Molecular functions related to Microcephaly and Chorioretinopathy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphotransferase activity, alcohol group as acceptor GO:0016773 8.62 FAM20C FAM20A

Sources for Microcephaly and Chorioretinopathy 1

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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