MCID: MCR244
MIFTS: 21

Microcephaly and Chorioretinopathy, Autosomal Recessive, 2

Categories: Genetic diseases, Neuronal diseases, Immune diseases, Mental diseases, Rare diseases, Eye 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 75 29 6 73
Mccrp2 57 75
Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

32
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 : 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)

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). Affiliated tissues include eye, and related phenotypes are microcephaly and sloping forehead

UniProtKB/Swiss-Prot : 75 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:

57
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:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 sloping forehead 32 HP:0000340
3 micrognathia 32 HP:0000347
4 prominent nose 32 occasional (7.5%) HP:0000448
5 microcornea 32 HP:0000482
6 retinopathy 32 occasional (7.5%) HP:0000488
7 visual impairment 32 HP:0000505
8 cataract 32 HP:0000518
9 proptosis 32 occasional (7.5%) HP:0000520
10 optic disc pallor 32 occasional (7.5%) HP:0000543
11 microphthalmia 32 HP:0000568
12 optic atrophy 32 occasional (7.5%) HP:0000648
13 intellectual disability 32 HP:0001249
14 seizures 32 occasional (7.5%) HP:0001250
15 global developmental delay 32 HP:0001263
16 cerebellar atrophy 32 HP:0001272
17 intrauterine growth retardation 32 HP:0001511
18 cerebral atrophy 32 HP:0002059
19 short stature 32 HP:0004322
20 macular atrophy 32 occasional (7.5%) HP:0007401
21 cortical gyral simplification 32 HP:0009879

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

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

41
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_014264.4(PLK4): c.2811-5C> G single nucleotide variant Pathogenic rs724159995 GRCh38 Chromosome 4, 127898434: 127898434
3 PLK4 NM_001190799.1(PLK4): c.1203_1207delTAAAG (p.Phe401Leufs) deletion Pathogenic rs724159996 GRCh37 Chromosome 4, 128807824: 128807828
4 PLK4 NM_001190799.1(PLK4): c.1203_1207delTAAAG (p.Phe401Leufs) deletion Pathogenic rs724159996 GRCh38 Chromosome 4, 127886669: 127886673

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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