MCCRP2
MCID: MCR244
MIFTS: 22

Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 (MCCRP2)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare 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 57 72 29 6 70
Mccrp2 57 72
Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 2 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

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


Classifications:



Summaries for Microcephaly and Chorioretinopathy, Autosomal Recessive, 2

OMIM® : 57 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) (Updated 05-Apr-2021)

MalaCards based summary : Microcephaly and Chorioretinopathy, Autosomal Recessive, 2, is also known as mccrp2. An important gene associated with Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 is PLK4 (Polo Like Kinase 4). Related phenotypes are optic atrophy and retinopathy

UniProtKB/Swiss-Prot : 72 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

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

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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
simplified gyral pattern
mental retardation
seizures (in some patients)
more
Head And Neck Head:
microcephaly (up to -15 sd)

Clinical features from OMIM®:

616171 (Updated 05-Apr-2021)

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 29 PLK4

Anatomical Context for Microcephaly and Chorioretinopathy, Autosomal Recessive, 2

Publications for Microcephaly and Chorioretinopathy, Autosomal Recessive, 2

Articles related to Microcephaly and Chorioretinopathy, Autosomal Recessive, 2:

# Title Authors PMID Year
1
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. 57
25344692 2014
2
Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism. 57
25320347 2014
3
TUBGCP4 - associated microcephaly and chorioretinopathy. 61
32270730 2020

Variations for Microcephaly and Chorioretinopathy, Autosomal Recessive, 2

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLK4 NM_014264.5(PLK4):c.2811-5C>G SNV Pathogenic 162400 rs724159995 GRCh37: 4:128819589-128819589
GRCh38: 4:127898434-127898434
2 PLK4 NM_014264.5(PLK4):c.1299_1303del (p.Phe433fs) Deletion Pathogenic 162401 rs724159996 GRCh37: 4:128807824-128807828
GRCh38: 4:127886669-127886673
3 PLK4 NM_014264.5(PLK4):c.2562+1G>C SNV Likely pathogenic 1031259 GRCh37: 4:128815037-128815037
GRCh38: 4:127893882-127893882
4 PLK4 NM_014264.5(PLK4):c.926A>G (p.Lys309Arg) SNV Uncertain significance 739801 rs543250835 GRCh37: 4:128807451-128807451
GRCh38: 4:127886296-127886296
5 PLK4 NM_014264.5(PLK4):c.176A>G (p.Asn59Ser) SNV Uncertain significance 1032615 GRCh37: 4:128804466-128804466
GRCh38: 4:127883311-127883311

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
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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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