MCID: MCR244
MIFTS: 21

Microcephaly and Chorioretinopathy, Autosomal Recessive, 2

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

Aliases & Classifications for Microcephaly and Chorioretinopathy, Autosomal Recessive, 2

MalaCards integrated aliases for Microcephaly and Chorioretinopathy, Autosomal Recessive, 2:

Name: Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 53 71 28 69
Mccrp2 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

31
microcephaly and chorioretinopathy, autosomal recessive, 2:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephaly and Chorioretinopathy, Autosomal Recessive, 2

OMIM : 53 Microcephaly and chorioretinopathy-2 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, visual impairment, and short stature (summary by Martin et al., 2014). For a discussion of genetic heterogeneity of microcephaly and chorioretinopathy, see MCCRP1 (251270). (616171)

MalaCards based summary : Microcephaly and Chorioretinopathy, Autosomal Recessive, 2, is also known as mccrp2, and has symptoms including seizures, intellectual disability and cataract. An important gene associated with Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 is PLK4 (Polo Like Kinase 4). Affiliated tissues include eye.

UniProtKB/Swiss-Prot : 71 Microcephaly and chorioretinopathy, autosomal recessive, 2: A severe disorder characterized by microcephaly, delayed psychomotor development, growth retardation with dwarfism, and ocular abnormalities.

Related Diseases for Microcephaly and Chorioretinopathy, Autosomal Recessive, 2

Symptoms & Phenotypes for Microcephaly and Chorioretinopathy, Autosomal Recessive, 2

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
cataract
microcornea
optic atrophy (in some patients)
microphthalmia (in some patients)
impaired vision
more
Head And Neck Face:
micrognathia
sloping forehead

Growth Other:
prenatal growth retardation

Head And Neck Nose:
prominent nose (in some patients)

Growth Height:
short stature

Neurologic Central Nervous System:
cerebellar atrophy
cerebral atrophy
mental retardation
seizures (in some patients)
simplified gyral pattern
more
Head And Neck Head:
microcephaly (up to -15 sd)


Clinical features from OMIM:

616171

Human phenotypes related to Microcephaly and Chorioretinopathy, Autosomal Recessive, 2:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 seizures 31 occasional (7.5%) HP:0001250
2 intellectual disability 31 HP:0001249
3 cataract 31 HP:0000518
4 global developmental delay 31 HP:0001263
5 microcephaly 31 HP:0000252
6 visual impairment 31 HP:0000505
7 optic atrophy 31 occasional (7.5%) HP:0000648
8 short stature 31 HP:0004322
9 retinopathy 31 occasional (7.5%) HP:0000488
10 micrognathia 31 HP:0000347
11 intrauterine growth retardation 31 HP:0001511
12 microphthalmia 31 HP:0000568
13 proptosis 31 occasional (7.5%) HP:0000520
14 microcornea 31 HP:0000482
15 cerebellar atrophy 31 HP:0001272
16 sloping forehead 31 HP:0000340
17 prominent nose 31 occasional (7.5%) HP:0000448
18 cerebral atrophy 31 HP:0002059
19 optic disc pallor 31 occasional (7.5%) HP:0000543
20 cortical gyral simplification 31 HP:0009879
21 macular atrophy 31 occasional (7.5%) HP:0007401

Drugs & Therapeutics for Microcephaly and Chorioretinopathy, Autosomal Recessive, 2

Search Clinical Trials , NIH Clinical Center for Microcephaly and Chorioretinopathy, Autosomal Recessive, 2

Genetic Tests for Microcephaly and Chorioretinopathy, Autosomal Recessive, 2

Genetic tests related to Microcephaly and Chorioretinopathy, Autosomal Recessive, 2:

# Genetic test Affiliating Genes
1 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 28 PLK4

Anatomical Context for Microcephaly and Chorioretinopathy, Autosomal Recessive, 2

MalaCards organs/tissues related to Microcephaly and Chorioretinopathy, Autosomal Recessive, 2:

38
Eye

Publications for Microcephaly and Chorioretinopathy, Autosomal Recessive, 2

Variations for Microcephaly and Chorioretinopathy, Autosomal Recessive, 2

ClinVar genetic disease variations for Microcephaly and Chorioretinopathy, Autosomal Recessive, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PLK4 NM_014264.4(PLK4): c.2811-5C> G single nucleotide variant Pathogenic rs724159995 GRCh37 Chromosome 4, 128819589: 128819589
2 PLK4 NM_001190799.1(PLK4): c.1203_1207delTAAAG (p.Phe401Leufs) deletion Pathogenic rs724159996 GRCh37 Chromosome 4, 128807824: 128807828

Expression for Microcephaly and Chorioretinopathy, Autosomal Recessive, 2

Search GEO for disease gene expression data for Microcephaly and Chorioretinopathy, Autosomal Recessive, 2.

Pathways for Microcephaly and Chorioretinopathy, Autosomal Recessive, 2

GO Terms for Microcephaly and Chorioretinopathy, Autosomal Recessive, 2

Sources for Microcephaly and Chorioretinopathy, Autosomal Recessive, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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