MCID: MCR259
MIFTS: 23

Microcephaly and Chorioretinopathy, Autosomal Recessive, 1

Categories: Genetic diseases, Neuronal diseases, Immune diseases, Mental diseases, Rare diseases, Eye 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 75 73
Chorioretinal Dysplasia-Microcephaly-Mental Retardation Syndrome 75 73
Mccrp1 57 75
Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 1 40
Lymphedema, Microcephaly and Chorioretinopathy Syndrome 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

32
microcephaly and chorioretinopathy, autosomal recessive, 1:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephaly and Chorioretinopathy, Autosomal Recessive, 1

UniProtKB/Swiss-Prot : 75 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 skin, and related phenotypes are microcephaly and sloping forehead

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)

Related Diseases for Microcephaly and Chorioretinopathy, Autosomal Recessive, 1

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
visual impairment
retinal detachment
retinal dystrophy
chorioretinopathy
retinal folds
more
Neurologic Central Nervous System:
cerebellar hypoplasia
pachygyria
cerebral atrophy
mental retardation
delayed psychomotor development
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

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

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 sloping forehead 32 HP:0000340
3 visual impairment 32 HP:0000505
4 cataract 32 HP:0000518
5 retinal detachment 32 HP:0000541
6 optic disc pallor 32 HP:0000543
7 retinal dystrophy 32 HP:0000556
8 microphthalmia 32 HP:0000568
9 nystagmus 32 occasional (7.5%) HP:0000639
10 abnormality of skin pigmentation 32 HP:0001000
11 intellectual disability 32 HP:0001249
12 seizures 32 occasional (7.5%) HP:0001250
13 global developmental delay 32 HP:0001263
14 pachygyria 32 HP:0001302
15 cerebellar hypoplasia 32 HP:0001321
16 cerebral atrophy 32 HP:0002059
17 short stature 32 HP:0004322
18 abnormality of retinal pigmentation 32 HP:0007703
19 chorioretinal dysplasia 32 HP:0007731
20 retinal fold 32 HP:0008052
21 cortical gyral simplification 32 HP:0009879

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

Anatomical Context for Microcephaly and Chorioretinopathy, Autosomal Recessive, 1

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

41
Retina, Skin

Publications for Microcephaly and Chorioretinopathy, Autosomal Recessive, 1

Variations for Microcephaly and Chorioretinopathy, Autosomal Recessive, 1

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

6
(show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 TUBGCP6 NM_020461.3(TUBGCP6): c.5458T> G (p.Ter1820Gly) single nucleotide variant Pathogenic rs387907019 GRCh37 Chromosome 22, 50656167: 50656167
2 TUBGCP6 NM_020461.3(TUBGCP6): c.5458T> G (p.Ter1820Gly) single nucleotide variant Pathogenic rs387907019 GRCh38 Chromosome 22, 50217738: 50217738
3 TUBGCP6 NM_020461.3(TUBGCP6): c.4333_4334insT (p.His1445Leufs) insertion Pathogenic rs727502807 GRCh37 Chromosome 22, 50657867: 50657868
4 TUBGCP6 NM_020461.3(TUBGCP6): c.4333_4334insT (p.His1445Leufs) insertion Pathogenic rs727502807 GRCh38 Chromosome 22, 50219438: 50219439
5 TUBGCP6 NM_020461.3(TUBGCP6): c.2215C> T (p.Arg739Ter) single nucleotide variant Pathogenic rs724159975 GRCh37 Chromosome 22, 50662625: 50662625
6 TUBGCP6 NM_020461.3(TUBGCP6): c.2215C> T (p.Arg739Ter) single nucleotide variant Pathogenic rs724159975 GRCh38 Chromosome 22, 50224196: 50224196
7 TUBGCP6 NM_020461.3(TUBGCP6): c.2546A> G (p.Glu849Gly) single nucleotide variant Pathogenic rs368449236 GRCh37 Chromosome 22, 50660242: 50660242
8 TUBGCP6 NM_020461.3(TUBGCP6): c.2546A> G (p.Glu849Gly) single nucleotide variant Pathogenic rs368449236 GRCh38 Chromosome 22, 50221813: 50221813
9 TUBGCP6 NM_020461.3(TUBGCP6): c.3565G> T (p.Gly1189Ter) single nucleotide variant Pathogenic rs724159976 GRCh37 Chromosome 22, 50659223: 50659223
10 TUBGCP6 NM_020461.3(TUBGCP6): c.3565G> T (p.Gly1189Ter) single nucleotide variant Pathogenic rs724159976 GRCh38 Chromosome 22, 50220794: 50220794
11 TUBGCP6 NM_020461.3(TUBGCP6): c.3163C> T (p.His1055Tyr) single nucleotide variant Pathogenic rs724159997 GRCh37 Chromosome 22, 50659625: 50659625
12 TUBGCP6 NM_020461.3(TUBGCP6): c.3163C> T (p.His1055Tyr) single nucleotide variant Pathogenic rs724159997 GRCh38 Chromosome 22, 50221196: 50221196
13 TUBGCP6 NM_020461.3(TUBGCP6): c.5139C> T (p.His1713=) single nucleotide variant Conflicting interpretations of pathogenicity rs149152116 GRCh38 Chromosome 22, 50218218: 50218218
14 TUBGCP6 NM_020461.3(TUBGCP6): c.5139C> T (p.His1713=) single nucleotide variant Conflicting interpretations of pathogenicity rs149152116 GRCh37 Chromosome 22, 50656647: 50656647
15 TUBGCP6 NM_020461.3(TUBGCP6): c.5140G> A (p.Ala1714Thr) single nucleotide variant no interpretation for the single variant rs748135189 GRCh37 Chromosome 22, 50656646: 50656646
16 TUBGCP6 NM_020461.3(TUBGCP6): c.5140G> A (p.Ala1714Thr) single nucleotide variant no interpretation for the single variant rs748135189 GRCh38 Chromosome 22, 50218217: 50218217
17 TUBGCP6 NM_020461.3(TUBGCP6): c.3139C> T (p.Arg1047Trp) single nucleotide variant no interpretation for the single variant rs538652140 GRCh38 Chromosome 22, 50221220: 50221220
18 TUBGCP6 NM_020461.3(TUBGCP6): c.3139C> T (p.Arg1047Trp) single nucleotide variant no interpretation for the single variant rs538652140 GRCh37 Chromosome 22, 50659649: 50659649
19 TUBGCP6 NM_020461.3(TUBGCP6): c.4315+2_4315+3delTG deletion Likely pathogenic GRCh38 Chromosome 22, 50219641: 50219642
20 TUBGCP6 NM_020461.3(TUBGCP6): c.4315+2_4315+3delTG deletion Likely pathogenic GRCh37 Chromosome 22, 50658070: 50658071
21 TUBGCP6 NM_020461.3(TUBGCP6): c.4315+20T> C single nucleotide variant Benign rs6537642 GRCh38 Chromosome 22, 50219624: 50219624
22 TUBGCP6 NM_020461.3(TUBGCP6): c.4315+20T> C single nucleotide variant Benign rs6537642 GRCh37 Chromosome 22, 50658053: 50658053
23 TUBGCP6 NM_020461.3(TUBGCP6): c.4129A> G (p.Thr1377Ala) single nucleotide variant Benign rs11703226 GRCh38 Chromosome 22, 50219995: 50219995
24 TUBGCP6 NM_020461.3(TUBGCP6): c.4129A> G (p.Thr1377Ala) single nucleotide variant Benign rs11703226 GRCh37 Chromosome 22, 50658424: 50658424
25 TUBGCP6 NM_020461.3(TUBGCP6): c.1700T> C (p.Leu567Ser) single nucleotide variant Benign rs4838865 GRCh38 Chromosome 22, 50226183: 50226183
26 TUBGCP6 NM_020461.3(TUBGCP6): c.1700T> C (p.Leu567Ser) single nucleotide variant Benign rs4838865 GRCh37 Chromosome 22, 50664612: 50664612
27 TUBGCP6 NM_020461.3(TUBGCP6): c.24C> T (p.Phe8=) single nucleotide variant Benign rs5771270 GRCh37 Chromosome 22, 50682865: 50682865
28 TUBGCP6 NM_020461.3(TUBGCP6): c.24C> T (p.Phe8=) single nucleotide variant Benign rs5771270 GRCh38 Chromosome 22, 50244436: 50244436
29 TUBGCP6 NM_020461.3(TUBGCP6): c.4317C> A (p.Ser1439=) single nucleotide variant Benign rs79022493 GRCh37 Chromosome 22, 50657884: 50657884
30 TUBGCP6 NM_020461.3(TUBGCP6): c.4317C> A (p.Ser1439=) single nucleotide variant Benign rs79022493 GRCh38 Chromosome 22, 50219455: 50219455
31 TUBGCP6 NM_020461.3(TUBGCP6): c.3732C> T (p.His1244=) single nucleotide variant Likely benign rs140699312 GRCh37 Chromosome 22, 50659056: 50659056
32 TUBGCP6 NM_020461.3(TUBGCP6): c.3732C> T (p.His1244=) single nucleotide variant Likely benign rs140699312 GRCh38 Chromosome 22, 50220627: 50220627

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

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