MCID: MCR272
MIFTS: 19

Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

Categories: Genetic diseases, Neuronal diseases, Mental diseases, Rare diseases, Eye diseases

Aliases & Classifications for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

MalaCards integrated aliases for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3:

Name: Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 54 71 29
Microcephaly and Chorioretinopathy, Autosomal Recessive 3 24
Mccrp3 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
three unrelated french families have been reported (last curated april 2015)


HPO:

32
microcephaly and chorioretinopathy, autosomal recessive, 3:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

UniProtKB/Swiss-Prot : 71 Microcephaly and chorioretinopathy, autosomal recessive, 3: A disorder characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus. Variable ocular anomalies include microphthalmia, retinal folding, retinal detachment, optic nerve hypoplasia, absence of retinal vessels, round areas of chorioretinal atrophy, and attenuated electroretinogram. Most patients have mild developmental delay and mild learning difficulties.

MalaCards based summary : Microcephaly and Chorioretinopathy, Autosomal Recessive, 3, is also known as microcephaly and chorioretinopathy, autosomal recessive 3, and has symptoms including visual impairment, nystagmus and microcephaly. An important gene associated with Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 is TUBGCP4 (Tubulin Gamma Complex Associated Protein 4). Affiliated tissues include retina.

Description from OMIM: 616335

Related Diseases for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

Symptoms & Phenotypes for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
nystagmus
decreased visual acuity
microphthalmia
chorioretinopathy
punched-out appearance of the retina
more
Neurologic- Central Nervous System:
learning difficulties
delayed development, mild

Head And Neck- Head:
microcephaly

Head And Neck- Face:
dysmorphic facial features (1 family)


Clinical features from OMIM:

616335

Human phenotypes related to Microcephaly and Chorioretinopathy, Autosomal Recessive, 3:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 nystagmus 32 HP:0000639
3 microcephaly 32 HP:0000252
4 microphthalmia 32 HP:0000568
5 reduced visual acuity 32 HP:0007663
6 global developmental delay 32 HP:0001263
7 abnormal facial shape 32 occasional (7.5%) HP:0001999
8 chorioretinal dysplasia 32 HP:0007731

Drugs & Therapeutics for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

Search Clinical Trials , NIH Clinical Center for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

Genetic Tests for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

Genetic tests related to Microcephaly and Chorioretinopathy, Autosomal Recessive, 3:

id Genetic test Affiliating Genes
1 Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 29
2 Microcephaly and Chorioretinopathy, Autosomal Recessive 3 24 TUBGCP4

Anatomical Context for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

MalaCards organs/tissues related to Microcephaly and Chorioretinopathy, Autosomal Recessive, 3:

39
Retina

Publications for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

Variations for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

ClinVar genetic disease variations for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TUBGCP4 NM_014444.4(TUBGCP4): c.1746G> T (p.Leu582=) single nucleotide variant Pathogenic rs200092283 GRCh38 Chromosome 15, 43403697: 43403697
2 TUBGCP4 NM_014444.4(TUBGCP4): c.579dupT (p.Gly194Trpfs) duplication Pathogenic rs794726855 GRCh38 Chromosome 15, 43383360: 43383360
3 TUBGCP4 NM_014444.2(TUBGCP4): c.1732-?_*544+?del deletion Pathogenic
4 TUBGCP4 NM_014444.4(TUBGCP4): c.298delT (p.Tyr100Ilefs) deletion Pathogenic rs794726856 GRCh38 Chromosome 15, 43376593: 43376593

Expression for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

Search GEO for disease gene expression data for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3.

Pathways for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

GO Terms for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

Sources for Microcephaly and Chorioretinopathy, Autosomal Recessive, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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