MCCRP1
MCID: MCR259
MIFTS: 29

Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 (MCCRP1)

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

Aliases & Classifications for Microcephaly and Chorioretinopathy, Autosomal Recessive, 1

MalaCards integrated aliases for Microcephaly and Chorioretinopathy, Autosomal Recessive, 1:

Name: Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 57 72 29 6 70
Chorioretinal Dysplasia-Microcephaly-Mental Retardation Syndrome 72 70
Mccrp1 57 72
Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 1 39
Lymphedema, Microcephaly and Chorioretinopathy Syndrome 70

Characteristics:

OMIM®:

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

Miscellaneous:
onset at birth


HPO:

31
microcephaly and chorioretinopathy, autosomal recessive, 1:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Microcephaly and Chorioretinopathy, Autosomal Recessive, 1

UniProtKB/Swiss-Prot : 72 Microcephaly and chorioretinopathy, autosomal recessive, 1: A syndrome characterized by microcephaly, cognitive impairment, underdeveloped retina and choroid, and epilepsy in some patients. The more anterior parts of the retina, near the periphery and pars plana, have a grayish hue and diminutive vasculature similar to retinopathy of prematurity. Visual impairment becomes evident during the first year of life.

MalaCards based summary : Microcephaly and Chorioretinopathy, Autosomal Recessive, 1, also known as chorioretinal dysplasia-microcephaly-mental retardation syndrome, is related to microcephaly with or without chorioretinopathy, lymphedema, or mental retardation and microcephaly and chorioretinopathy, autosomal recessive, 2. An important gene associated with Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 is TUBGCP6 (Tubulin Gamma Complex Associated Protein 6). Affiliated tissues include retina, and related phenotypes are nystagmus and seizure

OMIM® : 57 Microcephaly and chorioretinopathy is an autosomal recessive developmental disorder characterized by delayed psychomotor development and visual impairment, often accompanied by short stature (summary by Martin et al., 2014). (251270) (Updated 05-Apr-2021)

Related Diseases for Microcephaly and Chorioretinopathy, Autosomal Recessive, 1

Graphical network of the top 20 diseases related to Microcephaly and Chorioretinopathy, Autosomal Recessive, 1:



Diseases related to Microcephaly and Chorioretinopathy, Autosomal Recessive, 1

Symptoms & Phenotypes for Microcephaly and Chorioretinopathy, Autosomal Recessive, 1

Human phenotypes related to Microcephaly and Chorioretinopathy, Autosomal Recessive, 1:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 occasional (7.5%) HP:0000639
2 seizure 31 occasional (7.5%) HP:0001250
3 intellectual disability 31 HP:0001249
4 cataract 31 HP:0000518
5 global developmental delay 31 HP:0001263
6 microcephaly 31 HP:0000252
7 visual impairment 31 HP:0000505
8 short stature 31 HP:0004322
9 abnormality of retinal pigmentation 31 HP:0007703
10 retinal detachment 31 HP:0000541
11 microphthalmia 31 HP:0000568
12 chorioretinal dysplasia 31 HP:0007731
13 cerebellar hypoplasia 31 HP:0001321
14 abnormality of skin pigmentation 31 HP:0001000
15 pachygyria 31 HP:0001302
16 sloping forehead 31 HP:0000340
17 optic disc pallor 31 HP:0000543
18 cerebral atrophy 31 HP:0002059
19 retinal dystrophy 31 HP:0000556
20 simplified gyral pattern 31 HP:0009879
21 retinal fold 31 HP:0008052

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
visual impairment
retinal detachment
retinal dystrophy
chorioretinopathy
retinal folds
more
Neurologic Central Nervous System:
cerebellar hypoplasia
pachygyria
cerebral atrophy
simplified gyral pattern
mental retardation
more
Head And Neck Head:
microcephaly (up to -11 sd)

Growth Height:
short stature

Head And Neck Face:
sloping forehead

Clinical features from OMIM®:

251270 (Updated 05-Apr-2021)

Drugs & Therapeutics for Microcephaly and Chorioretinopathy, Autosomal Recessive, 1

Search Clinical Trials , NIH Clinical Center for Microcephaly and Chorioretinopathy, Autosomal Recessive, 1

Genetic Tests for Microcephaly and Chorioretinopathy, Autosomal Recessive, 1

Genetic tests related to Microcephaly and Chorioretinopathy, Autosomal Recessive, 1:

# Genetic test Affiliating Genes
1 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 29 TUBGCP6

Anatomical Context for Microcephaly and Chorioretinopathy, Autosomal Recessive, 1

MalaCards organs/tissues related to Microcephaly and Chorioretinopathy, Autosomal Recessive, 1:

40
Retina

Publications for Microcephaly and Chorioretinopathy, Autosomal Recessive, 1

Articles related to Microcephaly and Chorioretinopathy, Autosomal Recessive, 1:

# Title Authors PMID Year
1
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. 57 6
25344692 2014
2
Genetic mapping and exome sequencing identify variants associated with five novel diseases. 57 6
22279524 2012
3
Chorioretinopathy with hereditary microcephaly. 6 57
5936364 1966
4
Microcephaly with chorioretinopathy in a brother-sister pair: evidence for germ line mosaicism and further delineation of the ocular phenotype. 57
17486591 2007
5
Microcephaly with chorioretinal dysplasia: characteristic facial features. 57
11146476 2000
6
A syndrome of multiple fundal anomalies in siblings with microcephaly without mental retardation. 57
3399264 1988
7
A syndrome of microcephaly and retinal pigmentary abnormalities without mental retardation in a family with coincidental autosomal dominant hyperreflexia. 57
6711609 1984
8
Autosomal recessive microcephaly associated with chorioretinopathy. 57
870417 1977
9
TUBGCP4 - associated microcephaly and chorioretinopathy. 61
32270730 2020

Variations for Microcephaly and Chorioretinopathy, Autosomal Recessive, 1

ClinVar genetic disease variations for Microcephaly and Chorioretinopathy, Autosomal Recessive, 1:

6 (show all 41)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TUBGCP6 NM_020461.4(TUBGCP6):c.5458T>G (p.Ter1820Gly) SNV Pathogenic 30809 rs387907019 GRCh37: 22:50656167-50656167
GRCh38: 22:50217738-50217738
2 TUBGCP6 NM_020461.4(TUBGCP6):c.4333_4334insT (p.His1445fs) Insertion Pathogenic 162402 rs727502807 GRCh37: 22:50657867-50657868
GRCh38: 22:50219438-50219439
3 TUBGCP6 NM_020461.4(TUBGCP6):c.2215C>T (p.Arg739Ter) SNV Pathogenic 162403 rs724159975 GRCh37: 22:50662625-50662625
GRCh38: 22:50224196-50224196
4 TUBGCP6 NM_020461.4(TUBGCP6):c.2546A>G (p.Glu849Gly) SNV Pathogenic 162404 rs368449236 GRCh37: 22:50660242-50660242
GRCh38: 22:50221813-50221813
5 TUBGCP6 NM_020461.4(TUBGCP6):c.3565G>T (p.Gly1189Ter) SNV Pathogenic 162405 rs724159976 GRCh37: 22:50659223-50659223
GRCh38: 22:50220794-50220794
6 TUBGCP6 NM_020461.4(TUBGCP6):c.3163C>T (p.His1055Tyr) SNV Pathogenic 162406 rs724159997 GRCh37: 22:50659625-50659625
GRCh38: 22:50221196-50221196
7 TUBGCP6 NM_020461.4(TUBGCP6):c.2356C>T (p.Arg786Ter) SNV Pathogenic 212509 rs772174079 GRCh37: 22:50660936-50660936
GRCh38: 22:50222507-50222507
8 TUBGCP6 NM_020461.4(TUBGCP6):c.3598G>T (p.Glu1200Ter) SNV Pathogenic 1033532 GRCh37: 22:50659190-50659190
GRCh38: 22:50220761-50220761
9 TUBGCP6 NM_020461.4(TUBGCP6):c.3760G>T (p.Glu1254Ter) SNV Pathogenic 1033533 GRCh37: 22:50659028-50659028
GRCh38: 22:50220599-50220599
10 TUBGCP6 NM_020461.4(TUBGCP6):c.2555C>T (p.Ser852Leu) SNV Likely pathogenic 939496 GRCh37: 22:50660233-50660233
GRCh38: 22:50221804-50221804
11 TUBGCP6 NM_020461.3(TUBGCP6):c.4315+2_4315+3delTG Microsatellite Likely pathogenic 495284 GRCh37: 22:50658070-50658071
GRCh38: 22:50219641-50219642
12 TUBGCP6 NM_020461.4(TUBGCP6):c.1075G>A (p.Val359Ile) SNV Likely pathogenic 694004 rs1444741505 GRCh37: 22:50671786-50671786
GRCh38: 22:50233357-50233357
13 TUBGCP6 NM_020461.4(TUBGCP6):c.2968G>A (p.Gly990Arg) SNV Likely pathogenic 694005 rs1602510452 GRCh37: 22:50659820-50659820
GRCh38: 22:50221391-50221391
14 TUBGCP6 NM_020461.4(TUBGCP6):c.4838dup (p.Asn1613fs) Duplication Likely pathogenic 977834 GRCh37: 22:50657032-50657033
GRCh38: 22:50218603-50218604
15 TUBGCP6 NM_020461.4(TUBGCP6):c.1615_1616del (p.Trp539fs) Deletion Likely pathogenic 977849 GRCh37: 22:50664793-50664794
GRCh38: 22:50226364-50226365
16 TUBGCP6 NM_020461.4(TUBGCP6):c.3907C>T (p.Gln1303Ter) SNV Likely pathogenic 977919 GRCh37: 22:50658881-50658881
GRCh38: 22:50220452-50220452
17 TUBGCP6 NM_020461.4(TUBGCP6):c.4521del (p.Phe1508fs) Deletion Likely pathogenic 993029 GRCh37: 22:50657602-50657602
GRCh38: 22:50219173-50219173
18 TUBGCP6 NM_020461.4(TUBGCP6):c.2066-6A>G SNV Uncertain significance 437169 rs368765755 GRCh37: 22:50662855-50662855
GRCh38: 22:50224426-50224426
19 TUBGCP6 NM_020461.4(TUBGCP6):c.1391A>G (p.Lys464Arg) SNV Uncertain significance 1028167 GRCh37: 22:50666357-50666357
GRCh38: 22:50227928-50227928
20 TUBGCP6 NM_020461.4(TUBGCP6):c.1829C>T (p.Pro610Leu) SNV Uncertain significance 1028168 GRCh37: 22:50664483-50664483
GRCh38: 22:50226054-50226054
21 TUBGCP6 NM_020461.4(TUBGCP6):c.1894G>C (p.Glu632Gln) SNV Uncertain significance 521246 rs199582514 GRCh37: 22:50664312-50664312
GRCh38: 22:50225883-50225883
22 TUBGCP6 NM_020461.4(TUBGCP6):c.2198G>C (p.Ser733Thr) SNV Uncertain significance 437156 rs1422096763 GRCh37: 22:50662642-50662642
GRCh38: 22:50224213-50224213
23 TUBGCP6 NM_020461.4(TUBGCP6):c.3098G>A (p.Gly1033Asp) SNV Uncertain significance 943680 GRCh37: 22:50659690-50659690
GRCh38: 22:50221261-50221261
24 TUBGCP6 NM_020461.4(TUBGCP6):c.4001C>T (p.Ser1334Leu) SNV Uncertain significance 1004125 GRCh37: 22:50658787-50658787
GRCh38: 22:50220358-50220358
25 TUBGCP6 NM_020461.4(TUBGCP6):c.4507G>A (p.Ala1503Thr) SNV Uncertain significance 860386 GRCh37: 22:50657616-50657616
GRCh38: 22:50219187-50219187
26 TUBGCP6 NM_020461.4(TUBGCP6):c.5389C>T (p.Arg1797Cys) SNV Uncertain significance 373311 rs138609686 GRCh37: 22:50656236-50656236
GRCh38: 22:50217807-50217807
27 TUBGCP6 NM_020461.4(TUBGCP6):c.548A>C (p.Glu183Ala) SNV Uncertain significance 1028658 GRCh37: 22:50682341-50682341
GRCh38: 22:50243912-50243912
28 TUBGCP6 NM_020461.4(TUBGCP6):c.3469C>T (p.Arg1157Trp) SNV Uncertain significance 1033531 GRCh37: 22:50659319-50659319
GRCh38: 22:50220890-50220890
29 TUBGCP6 NM_020461.4(TUBGCP6):c.3139C>T (p.Arg1047Trp) SNV Uncertain significance 444001 rs538652140 GRCh37: 22:50659649-50659649
GRCh38: 22:50221220-50221220
30 TUBGCP6 NM_020461.4(TUBGCP6):c.4562G>A (p.Arg1521Gln) SNV Uncertain significance 634513 rs748632851 GRCh37: 22:50657561-50657561
GRCh38: 22:50219132-50219132
31 TUBGCP6 NM_020461.4(TUBGCP6):c.3868A>C (p.Thr1290Pro) SNV Uncertain significance 1033534 GRCh37: 22:50658920-50658920
GRCh38: 22:50220491-50220491
32 TUBGCP6 NM_020461.4(TUBGCP6):c.5139C>T (p.His1713=) SNV Likely benign 437142 rs149152116 GRCh37: 22:50656647-50656647
GRCh38: 22:50218218-50218218
33 TUBGCP6 NM_020461.4(TUBGCP6):c.3732C>T (p.His1244=) SNV Likely benign 522311 rs140699312 GRCh37: 22:50659056-50659056
GRCh38: 22:50220627-50220627
34 TUBGCP6 NM_020461.4(TUBGCP6):c.5285C>T (p.Pro1762Leu) SNV Likely benign 212516 rs201721812 GRCh37: 22:50656430-50656430
GRCh38: 22:50218001-50218001
35 TUBGCP6 NM_020461.4(TUBGCP6):c.4129A>G (p.Thr1377Ala) SNV Benign 518328 rs11703226 GRCh37: 22:50658424-50658424
GRCh38: 22:50219995-50219995
36 TUBGCP6 NM_020461.4(TUBGCP6):c.1700T>C (p.Leu567Ser) SNV Benign 518329 rs4838865 GRCh37: 22:50664612-50664612
GRCh38: 22:50226183-50226183
37 TUBGCP6 NM_020461.4(TUBGCP6):c.4315+20T>C SNV Benign 518327 rs6537642 GRCh37: 22:50658053-50658053
GRCh38: 22:50219624-50219624
38 TUBGCP6 NM_020461.4(TUBGCP6):c.24C>T (p.Phe8=) SNV Benign 518330 rs5771270 GRCh37: 22:50682865-50682865
GRCh38: 22:50244436-50244436
39 TUBGCP6 NM_020461.4(TUBGCP6):c.4317C>A (p.Ser1439=) SNV Benign 522310 rs79022493 GRCh37: 22:50657884-50657884
GRCh38: 22:50219455-50219455
40 TUBGCP6 NM_020461.4(TUBGCP6):c.5287C>T (p.Arg1763Trp) SNV Benign 803708 rs35381394 GRCh37: 22:50656428-50656428
GRCh38: 22:50217999-50217999
41 TUBGCP6 NM_020461.4(TUBGCP6):c.3463C>T (p.Arg1155Trp) SNV not provided 810772 rs1457740942 GRCh37: 22:50659325-50659325
GRCh38: 22:50220896-50220896

Expression for Microcephaly and Chorioretinopathy, Autosomal Recessive, 1

Search GEO for disease gene expression data for Microcephaly and Chorioretinopathy, Autosomal Recessive, 1.

Pathways for Microcephaly and Chorioretinopathy, Autosomal Recessive, 1

GO Terms for Microcephaly and Chorioretinopathy, Autosomal Recessive, 1

Sources for Microcephaly and Chorioretinopathy, Autosomal Recessive, 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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