MCID: MCR282
MIFTS: 13

Microcephaly and Chorioretinopathy 1

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal 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 exophthalmos and ectodermal dysplasia 6, hair/nail type. An important gene associated with Microcephaly and Chorioretinopathy 1 is TUBGCP6 (Tubulin Gamma Complex Associated Protein 6). Related phenotype is limbs/digits/tail.

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 27)
# Related Disease Score Top Affiliating Genes
1 exophthalmos 10.0 TPO FAM20C
2 ectodermal dysplasia 6, hair/nail type 10.0 TBL1X SMAD9
3 ectodermal dysplasia 5, hair/nail type 10.0 TBL1X SMAD9
4 ectodermal dysplasia 9, hair/nail type 9.9 TBL1X SMAD9
5 ectodermal dysplasia 7, hair/nail type 9.9 TBL1X SMAD9
6 acute gonococcal prostatitis 9.9 TPO TBL1X
7 short-rib thoracic dysplasia 14 with polydactyly 9.9 TPO TBL1X
8 methylmalonic aciduria, cbla type 9.9 TPO TBL1X
9 raine syndrome 9.9 FGF23 FAM20C
10 hypophosphatemic rickets, autosomal dominant 9.9 FGF23 FAM20C
11 osteoglophonic dysplasia 9.9 FGF23 FAM20C
12 phosphorus metabolism disease 9.9 FGF23 FAM20C
13 autosomal recessive hypophosphatemic rickets 9.9 FGF23 FAM20C
14 mineral metabolism disease 9.8 FGF23 FAM20C
15 hypophosphatasia 9.8 FGF23 ALPL
16 tumoral calcinosis, hyperphosphatemic, familial, 1 9.8 FGF23 FAM20C
17 nevus, epidermal 9.8 FGF23 FAM20C
18 bone remodeling disease 9.7 FGF23 ALPL
19 arterial calcification of infancy 9.7 FGF23 FAM20C ALPL
20 osteomalacia 9.7 FGF23 FAM20C ALPL
21 hyperostosis 9.7 FGF23 ALPL
22 pulmonary emphysema 9.7 FGF23 ELN
23 hypophosphatemia 9.7 FGF23 FAM20C ALPL
24 hypophosphatemic rickets, x-linked dominant 9.7 FGF23 FAM20C ALPL
25 atrial heart septal defect 9.7 SMAD9 ELN
26 hypoparathyroidism 9.6 TPO FGF23
27 odontochondrodysplasia 9.5 FGF23 ELN ALPL

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.02 ALPL 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 biomineral tissue development GO:0031214 8.62 FAM20C ALPL

Sources for Microcephaly and Chorioretinopathy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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