CHEGDD
MCID: CRB215
MIFTS: 36

Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay (CHEGDD)

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

Aliases & Classifications for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental...

MalaCards integrated aliases for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay:

Name: Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay 57 72
Chegdd 57 72
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
cerebellar hypoplasia-tapetoretinal degeneration syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM®:

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

Miscellaneous:
onset in infancy
five patients from 3 unrelated families have been reported (last curated january 2020)
seizure onset in childhood


HPO:

31
cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental...

OMIM® : 57 Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of hypotonia and developmental delay with subsequent impaired intellectual development and severe speech delay. In childhood, affected individuals show delayed walking and develop epilepsy that is usually controlled by medication. Brain imaging shows cerebellar hypoplasia/atrophy (summary by Wang et al., 2019). (213000) (Updated 05-Apr-2021)

MalaCards based summary : Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay, also known as chegdd, is related to cerebellar hypoplasia tapetoretinal degeneration and dyskinetic cerebral palsy. An important gene associated with Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay is OXR1 (Oxidation Resistance 1). Affiliated tissues include brain and eye, and related phenotypes are nystagmus and ataxia

UniProtKB/Swiss-Prot : 72 Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay: An autosomal recessive neurodevelopmental disorder characterized by infantile onset of hypotonia, global developmental delay, delayed walking, and severely impaired intellectual development with profound speech delay. Patients manifest cerebellar atrophy and childhood-onset epilepsy.

Related Diseases for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental...

Graphical network of the top 20 diseases related to Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay:



Diseases related to Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay

Symptoms & Phenotypes for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental...

Human phenotypes related to Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
3 visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000505
4 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
5 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
6 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
7 abnormal electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0000512
8 cerebellar hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001321
9 hypotonia 31 hallmark (90%) HP:0001252
10 tremor 31 HP:0001337
11 muscular hypotonia 58 Very frequent (99-80%)
12 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis

Head And Neck Eyes:
hypertelorism

Skeletal Hands:
long fingers

Skeletal:
joint hyperlaxity

Skeletal Feet:
long toes

Neurologic Central Nervous System:
global developmental delay
cerebellar dysplasia
speech delay
delayed walking
impaired intellectual development
more
Head And Neck Face:
large forehead
dysmorphic features, subtle and nonspecific (in some patients)
tall face

Muscle Soft Tissue:
hypotonia

Growth Other:
poor overall growth

Clinical features from OMIM®:

213000 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.06 ARID1A ATAD3A AUTS2 BCL11A CASK DDX3X
2 mortality/aging MP:0010768 9.93 ARID1A ATAD3A AUTS2 BCL11A CASK DDX3X
3 embryo MP:0005380 9.8 ARID1A ATAD3A AUTS2 DDX3X DKC1 FGFR1
4 muscle MP:0005369 9.43 ARID1A ATAD3A DDX3X FGFR1 PLA2G6 PMM2
5 nervous system MP:0003631 9.28 ARID1A AUTS2 BCL11A CASK DDX3X FGFR1

Drugs & Therapeutics for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental...

Search Clinical Trials , NIH Clinical Center for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay

Genetic Tests for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental...

Anatomical Context for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental...

MalaCards organs/tissues related to Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay:

40
Brain, Eye

Publications for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental...

Articles related to Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay:

(show all 11)
# Title Authors PMID Year
1
Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction. 57 6
31785787 2019
2
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
3
Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities. 6
31727539 2019
4
Redefining the Etiologic Landscape of Cerebellar Malformations. 6
31474318 2019
5
Oxr1 is essential for protection against oxidative stress-induced neurodegeneration. 57
22028674 2011
6
Autosomal recessive cerebellar hypoplasia and tapeto-retinal degeneration: a new syndrome. 57
1622524 1992
7
Autosomal recessive cerebellar hypoplasia. 57
2768782 1989
8
Autosomal recessive congenital cerebellar hypoplasia. 57
3995786 1985
9
ARRESTED CEREBELLAR DEVELOPMENT: A TYPE OF CEREBELLAR DEGENERATION IN AMAUROTIC IDIOCY. 57
14123923 1964
10
Cerebellar hypoplasia associated with systemic degeneration in early life. 57
13576165 1958
11
[2 Cases of cerebellar hypoplasia in the same family]. 57
13445326 1957

Variations for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental...

ClinVar genetic disease variations for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay:

6 (show top 50) (show all 121)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATAD3A NM_001170535.3(ATAD3A):c.1217T>G (p.Leu406Arg) SNV Pathogenic 637018 rs1570345942 GRCh37: 1:1460622-1460622
GRCh38: 1:1525242-1525242
2 OXR1 NM_018002.3(OXR1):c.2082+1G>T SNV Pathogenic 694397 rs1587302415 GRCh37: 8:107751812-107751812
GRCh38: 8:106739584-106739584
3 OXR1 NM_018002.3(OXR1):c.1100C>G (p.Ser367Ter) SNV Pathogenic 694396 rs1587174071 GRCh37: 8:107718849-107718849
GRCh38: 8:106706621-106706621
4 OXR1 NM_018002.3(OXR1):c.1324del (p.Ser442fs) Deletion Pathogenic 694387 GRCh37: 8:107719072-107719072
GRCh38: 8:106706844-106706844
5 OXR1 NM_018002.3(OXR1):c.2236-1G>C SNV Pathogenic 694388 GRCh37: 8:107754449-107754449
GRCh38: 8:106742221-106742221
6 FLG-AS1 , FLG NM_002016.1(FLG):c.544A>T (p.Lys182Ter) SNV Pathogenic 523448 rs1218912272 GRCh37: 1:152286818-152286818
GRCh38: 1:152314342-152314342
7 TSEN54 NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) SNV Pathogenic 2120 rs113994152 GRCh37: 17:73518081-73518081
GRCh38: 17:75522000-75522000
8 PMM2 NM_000303.3(PMM2):c.338C>T (p.Pro113Leu) SNV Pathogenic 7723 rs80338700 GRCh37: 16:8900255-8900255
GRCh38: 16:8806398-8806398
9 PMM2 NM_000303.3(PMM2):c.422G>A (p.Arg141His) SNV Pathogenic 7706 rs28936415 GRCh37: 16:8905010-8905010
GRCh38: 16:8811153-8811153
10 PLA2G6 NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr) SNV Pathogenic 6196 rs121908681 GRCh37: 22:38516874-38516874
GRCh38: 22:38120867-38120867
11 CASK NM_001367721.1(CASK):c.79C>T (p.Arg27Ter) SNV Likely pathogenic 195200 rs794727270 GRCh37: X:41712461-41712461
GRCh38: X:41853208-41853208
12 L1CAM NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) SNV Likely pathogenic 10001 rs137852526 GRCh37: X:153135930-153135930
GRCh38: X:153870475-153870475
13 PMM2 NM_000303.3(PMM2):c.415G>A (p.Glu139Lys) SNV Likely pathogenic 21143 rs80338703 GRCh37: 16:8905003-8905003
GRCh38: 16:8811146-8811146
14 PMM2 NM_000303.3(PMM2):c.422G>A (p.Arg141His) SNV Likely pathogenic 7706 rs28936415 GRCh37: 16:8905010-8905010
GRCh38: 16:8811153-8811153
15 SETD2 NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) SNV Likely pathogenic 388568 rs1057523157 GRCh37: 3:47129662-47129662
GRCh38: 3:47088172-47088172
16 STXBP1 NM_003165.4(STXBP1):c.1004C>T (p.Pro335Leu) SNV Likely pathogenic 94116 rs398123695 GRCh37: 9:130434370-130434370
GRCh38: 9:127672091-127672091
17 WDR37 NM_014023.4(WDR37):c.374C>T (p.Thr125Ile) SNV Likely pathogenic 440948 rs1554823375 GRCh37: 10:1126394-1126394
GRCh38: 10:1080454-1080454
18 PMM2 NM_000303.3(PMM2):c.422G>A (p.Arg141His) SNV Likely pathogenic 7706 rs28936415 GRCh37: 16:8905010-8905010
GRCh38: 16:8811153-8811153
19 WDR37 NM_014023.4(WDR37):c.374C>T (p.Thr125Ile) SNV Likely pathogenic 440948 rs1554823375 GRCh37: 10:1126394-1126394
GRCh38: 10:1080454-1080454
20 KIAA0586 NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) Deletion Likely pathogenic 204593 rs534542684 GRCh37: 14:58899157-58899157
GRCh38: 14:58432439-58432439
21 KIAA0586 NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) Deletion Likely pathogenic 204596 rs770566897 GRCh37: 14:58910790-58910791
GRCh38: 14:58444072-58444073
22 BCL11A NM_022893.4(BCL11A):c.1601_1631del (p.Val534fs) Deletion Likely pathogenic 632585 rs1558612412 GRCh37: 2:60688416-60688446
GRCh38: 2:60461281-60461311
23 BCL11A NM_022893.4(BCL11A):c.295del (p.Val99fs) Deletion Likely pathogenic 632586 rs1558519119 GRCh37: 2:60773196-60773196
GRCh38: 2:60546061-60546061
24 DDX3X NM_001356.4(DDX3X):c.1126C>T (p.Arg376Cys) SNV Likely pathogenic 207813 rs796052231 GRCh37: X:41204533-41204533
GRCh38: X:41345280-41345280
25 SEPSECS NM_016955.4(SEPSECS):c.388+5G>A SNV Likely pathogenic 374085 rs1057518887 GRCh37: 4:25158473-25158473
GRCh38: 4:25156851-25156851
26 FZD3 NM_017412.4(FZD3):c.1616dup (p.Asp539fs) Duplication Likely pathogenic 632606 rs1563406024 GRCh37: 8:28413316-28413317
GRCh38: 8:28555799-28555800
27 KCTD3 NM_016121.5(KCTD3):c.1036_1073del (p.Pro346fs) Deletion Likely pathogenic 183346 rs730882243 GRCh37: 1:215775441-215775478
GRCh38: 1:215602099-215602136
28 ARID1A NM_006015.6(ARID1A):c.5090A>G (p.Asp1697Gly) SNV Likely pathogenic 523488 rs375761808 GRCh37: 1:27102164-27102164
GRCh38: 1:26775673-26775673
29 DKC1 NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln) SNV Likely pathogenic 379736 rs1057520719 GRCh37: X:154001502-154001502
GRCh38: X:154773227-154773227
30 SPTAN1 NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp) SNV Likely pathogenic 429871 rs1131691643 GRCh37: 9:131374047-131374047
GRCh38: 9:128611768-128611768
31 STXBP1 NM_003165.4(STXBP1):c.704G>A (p.Arg235Gln) SNV Likely pathogenic 199083 rs794727970 GRCh37: 9:130428485-130428485
GRCh38: 9:127666206-127666206
32 AUTS2 NM_015570.4(AUTS2):c.1600A>C (p.Thr534Pro) SNV Likely pathogenic 632598 rs1563183469 GRCh37: 7:70231231-70231231
GRCh38: 7:70766245-70766245
33 WDR37 NM_014023.4(WDR37):c.386C>G (p.Ser129Cys) SNV Likely pathogenic 633616 rs1589088702 GRCh37: 10:1126406-1126406
GRCh38: 10:1080466-1080466
34 WDR37 NM_014023.4(WDR37):c.356C>T (p.Ser119Phe) SNV Likely pathogenic 633617 rs1589088690 GRCh37: 10:1126376-1126376
GRCh38: 10:1080436-1080436
35 WDR37 NM_014023.4(WDR37):c.389C>T (p.Thr130Ile) SNV Likely pathogenic 633618 rs1589088703 GRCh37: 10:1126409-1126409
GRCh38: 10:1080469-1080469
36 RARS2 NM_020320.5(RARS2):c.1650+5G>A SNV Likely pathogenic 632595 rs750433723 GRCh37: 6:88224670-88224670
GRCh38: 6:87514952-87514952
37 RARS2 NM_020320.5(RARS2):c.848T>A (p.Leu283Gln) SNV Likely pathogenic 632596 rs1258569046 GRCh37: 6:88239290-88239290
GRCh38: 6:87529572-87529572
38 TMLHE NM_018196.4(TMLHE):c.277C>T (p.Arg93Cys) SNV Likely pathogenic 632605 rs782785654 GRCh37: X:154754198-154754198
GRCh38: X:155524537-155524537
39 TUBA1A NM_006009.4(TUBA1A):c.180G>T (p.Lys60Asn) SNV Likely pathogenic 632599 rs1565627707 GRCh37: 12:49580440-49580440
GRCh38: 12:49186657-49186657
40 PMM2 NM_000303.3(PMM2):c.584A>G (p.His195Arg) SNV Likely pathogenic 812999 rs1596489887 GRCh37: 16:8906908-8906908
GRCh38: 16:8813051-8813051
41 DDX3X NM_001356.4(DDX3X):c.1439G>C (p.Arg480Thr) SNV Likely pathogenic 632603 rs1569240005 GRCh37: X:41205605-41205605
GRCh38: X:41346352-41346352
42 KIF4A NM_012310.5(KIF4A):c.794G>T (p.Arg265Leu) SNV Likely pathogenic 632604 rs1569234334 GRCh37: X:69549270-69549270
GRCh38: X:70329420-70329420
43 OPHN1 NM_002547.3(OPHN1):c.746T>C (p.Leu249Pro) SNV Likely pathogenic 374192 rs1057518963 GRCh37: X:67430081-67430081
GRCh38: X:68210239-68210239
44 CASK NM_001367721.1(CASK):c.2236+1delinsAT Indel Likely pathogenic 523464 rs1555975523 GRCh37: X:41394145-41394145
GRCh38: X:41534892-41534892
45 CASK NM_001367721.1(CASK):c.2156-1G>A SNV Likely pathogenic 632600 rs1569291261 GRCh37: X:41394227-41394227
GRCh38: X:41534974-41534974
46 CASK NM_001367721.1(CASK):c.2120dup (p.Tyr708fs) Duplication Likely pathogenic 632602 rs1569295677 GRCh37: X:41401978-41401979
GRCh38: X:41542725-41542726
47 CASK NM_001367721.1(CASK):c.533-2A>G SNV Likely pathogenic 632601 rs1569380062 GRCh37: X:41524707-41524707
GRCh38: X:41665454-41665454
48 FGFR1 NM_023105.3(FGFR1):c.1614G>C (p.Arg538Ser) SNV Likely pathogenic 632588 rs1563436265 GRCh37: 8:38272393-38272393
GRCh38: 8:38414875-38414875
49 FOXP1 NM_032682.6(FOXP1):c.622C>T (p.Gln208Ter) SNV Likely pathogenic 498786 rs1553709881 GRCh37: 3:71096135-71096135
GRCh38: 3:71046984-71046984
50 TUBB2A NM_001069.3(TUBB2A):c.741C>G (p.Asn247Lys) SNV Likely pathogenic 127100 rs886037663 GRCh37: 6:3154694-3154694
GRCh38: 6:3154460-3154460

Expression for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental...

Search GEO for disease gene expression data for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay.

Pathways for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental...

GO Terms for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental...

Sources for Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental...

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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19 FMA
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28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
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45 MESH via Orphanet
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61 PubMed
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71 UMLS via Orphanet
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