CHEGDD
MCID: CRB215
MIFTS: 32

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 56 73
Chegdd 56 73
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:

56
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 : 56 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)

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 muscular hypotonia and visual impairment

UniProtKB/Swiss-Prot : 73 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...

Diseases related to Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cerebellar hypoplasia tapetoretinal degeneration 11.6
2 dyskinetic cerebral palsy 9.9 TSEN54 ATAD3A
3 diaphragmatic eventration 9.9 TSEN54 OXR1
4 pontocerebellar hypoplasia 9.7 TSEN54 ATAD3A
5 aceruloplasminemia 9.4 PMM2 PLA2G6
6 walker-warburg syndrome 9.2 TSEN54 PMM2
7 cerebellar hypoplasia 9.0 TSEN54 PMM2 OXR1 ATAD3A
8 isolated cerebellar agenesis 7.8 TSEN54 PMM2 PLA2G6 OXR1 KIAA0586 FLG

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

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
cerebellar dysplasia
speech delay
delayed walking
impaired intellectual development
more
Skeletal Spine:
scoliosis

Skeletal Hands:
long fingers

Skeletal:
joint hyperlaxity

Skeletal Feet:
long toes

Head And Neck Eyes:
hypertelorism

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

GenomeRNAi Phenotypes related to Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell size GR00098-A-4 8.62 FLG KIAA0586

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.1 ATAD3A KIAA0586 OXR1 PLA2G6 PMM2 TSEN54

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:

# 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. 56 6
31785787 2019
2
Oxr1 is essential for protection against oxidative stress-induced neurodegeneration. 56
22028674 2011
3
Autosomal recessive cerebellar hypoplasia and tapeto-retinal degeneration: a new syndrome. 56
1622524 1992
4
Autosomal recessive cerebellar hypoplasia. 56
2768782 1989
5
Autosomal recessive congenital cerebellar hypoplasia. 56
3995786 1985
6
ARRESTED CEREBELLAR DEVELOPMENT: A TYPE OF CEREBELLAR DEGENERATION IN AMAUROTIC IDIOCY. 56
14123923 1964
7
Cerebellar hypoplasia associated with systemic degeneration in early life. 56
13576165 1958
8
[2 Cases of cerebellar hypoplasia in the same family]. 56
13445326 1957

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

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

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FLG NM_002016.1(FLG):c.544A>T (p.Lys182Ter)SNV Pathogenic 523448 rs1218912272 1:152286818-152286818 1:152314342-152314342
2 ATAD3A NM_001170535.3(ATAD3A):c.1217T>G (p.Leu406Arg)SNV Pathogenic 637018 1:1460622-1460622 1:1525242-1525242
3 OXR1 NM_018002.3(OXR1):c.1100C>G (p.Ser367Ter)SNV Pathogenic 694396 8:107718849-107718849 8:106706621-106706621
4 OXR1 NM_018002.3(OXR1):c.2082+1G>TSNV Pathogenic 694397 8:107751812-107751812 8:106739584-106739584
5 PLA2G6 NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr)SNV Pathogenic 6196 rs121908681 22:38516874-38516874 22:38120867-38120867
6 PMM2 NM_000303.3(PMM2):c.422G>A (p.Arg141His)SNV Pathogenic 7706 rs28936415 16:8905010-8905010 16:8811153-8811153
7 PMM2 NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)SNV Pathogenic 7723 rs80338700 16:8900255-8900255 16:8806398-8806398
8 KIAA0586 NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs)deletion Pathogenic 204596 rs770566897 14:58910790-58910791 14:58444072-58444073
9 TSEN54 NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)SNV Pathogenic/Likely pathogenic 2120 rs113994152 17:73518081-73518081 17:75522000-75522000
10 KIAA0586 NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)deletion Pathogenic/Likely pathogenic 204593 rs534542684 14:58899157-58899157 14:58432439-58432439
11 KCTD3 NM_016121.5(KCTD3):c.1036_1073del (p.Pro346fs)deletion Likely pathogenic 183346 rs730882243 1:215775441-215775478 1:215602099-215602136
12 WDR37 NM_014023.4(WDR37):c.374C>T (p.Thr125Ile)SNV Likely pathogenic 440948 rs1554823375 10:1126394-1126394 10:1080454-1080454
13 PMM2 NM_000303.3(PMM2):c.584A>G (p.His195Arg)SNV Likely pathogenic 812999 16:8906908-8906908 16:8813051-8813051
14 CASK NC_000023.11:g.41506506_41542250deldeletion Likely pathogenic 812931 X:41365759-41401503
15 WDR37 NM_014023.4(WDR37):c.356C>T (p.Ser119Phe)SNV Likely pathogenic 633617 10:1126376-1126376 10:1080436-1080436
16 WDR37 NM_014023.4(WDR37):c.386C>G (p.Ser129Cys)SNV Likely pathogenic 633616 10:1126406-1126406 10:1080466-1080466
17 WDR37 NM_014023.4(WDR37):c.389C>T (p.Thr130Ile)SNV Likely pathogenic 633618 10:1126409-1126409 10:1080469-1080469
18 ARID1A NM_006015.6(ARID1A):c.5090A>G (p.Asp1697Gly)SNV Likely pathogenic 523488 rs375761808 1:27102164-27102164 1:26775673-26775673
19 CASK NM_003688.3(CASK):c.2221+1delinsATindel Likely pathogenic 523464 rs1555975523 X:41394145-41394145 X:41534892-41534892
20 SEPSECS NM_016955.4(SEPSECS):c.388+5G>ASNV Likely pathogenic 374085 rs1057518887 4:25158473-25158473 4:25156851-25156851
21 OPHN1 NM_002547.3(OPHN1):c.746T>C (p.Leu249Pro)SNV Likely pathogenic 374192 rs1057518963 X:67430081-67430081 X:68210239-68210239
22 USH2A NM_206933.4(USH2A):c.14027A>G (p.Gln4676Arg)SNV Conflicting interpretations of pathogenicity 48425 rs397517987 1:215844420-215844420 1:215671078-215671078
23 VLDLR NM_003383.5(VLDLR):c.2041C>T (p.Leu681=)SNV Conflicting interpretations of pathogenicity 130706 rs79720897 9:2648747-2648747 9:2648747-2648747
24 VLDLR NM_003383.5(VLDLR):c.792C>T (p.Cys264=)SNV Conflicting interpretations of pathogenicity 212564 rs141850403 9:2643503-2643503 9:2643503-2643503
25 VLDLR NM_003383.5(VLDLR):c.-111C>TSNV Conflicting interpretations of pathogenicity 366351 rs374367278 9:2622079-2622079 9:2622079-2622079
26 VLDLR NM_003383.5(VLDLR):c.1791G>A (p.Ala597=)SNV Conflicting interpretations of pathogenicity 366371 rs115773578 9:2647561-2647561 9:2647561-2647561
27 VLDLR NM_003383.5(VLDLR):c.449-12C>TSNV Conflicting interpretations of pathogenicity 366360 rs73640152 9:2643148-2643148 9:2643148-2643148
28 VLDLR NM_003383.5(VLDLR):c.-42_-40GGC[9]short repeat Conflicting interpretations of pathogenicity 287823 rs71329437 9:2622146-2622147 9:2622146-2622147
29 VLDLR NM_003383.5(VLDLR):c.-42_-40GGC[5]short repeat Conflicting interpretations of pathogenicity 290493 rs71329437 9:2622147-2622155 9:2622147-2622155
30 VLDLR NM_003383.5(VLDLR):c.-113C>GSNV Conflicting interpretations of pathogenicity 366350 rs34433332 9:2622077-2622077 9:2622077-2622077
31 VLDLR NM_003383.5(VLDLR):c.-171G>CSNV Conflicting interpretations of pathogenicity 366347 rs35763266 9:2622019-2622019 9:2622019-2622019
32 VLDLR NM_003383.5(VLDLR):c.71C>A (p.Ala24Asp)SNV Conflicting interpretations of pathogenicity 366359 rs754340855 9:2622260-2622260 9:2622260-2622260
33 VLDLR NM_003383.5(VLDLR):c.582C>T (p.Gly194=)SNV Conflicting interpretations of pathogenicity 366363 rs148012674 9:2643293-2643293 9:2643293-2643293
34 VLDLR NM_003383.5(VLDLR):c.863G>C (p.Gly288Ala)SNV Uncertain significance 366366 rs886063809 9:2643670-2643670 9:2643670-2643670
35 VLDLR NM_003383.5(VLDLR):c.1703+10C>GSNV Uncertain significance 366369 rs372047946 9:2646562-2646562 9:2646562-2646562
36 VLDLR NM_003383.5(VLDLR):c.*460G>ASNV Uncertain significance 366380 rs550310153 9:2654328-2654328 9:2654328-2654328
37 VLDLR NM_003383.5(VLDLR):c.*490T>GSNV Uncertain significance 366381 rs886063812 9:2654358-2654358 9:2654358-2654358
38 VLDLR NM_003383.5(VLDLR):c.*517G>CSNV Uncertain significance 366382 rs886063813 9:2654385-2654385 9:2654385-2654385
39 VLDLR NM_003383.5(VLDLR):c.-56_-54deldeletion Uncertain significance 366353 rs886063804 9:2622132-2622134 9:2622132-2622134
40 VLDLR NM_003383.5(VLDLR):c.-25_-24insATCCAGinsertion Uncertain significance 366357 rs886063807 9:2622165-2622166 9:2622165-2622166
41 VLDLR NM_003383.5(VLDLR):c.692G>A (p.Arg231His)SNV Uncertain significance 366364 rs767529669 9:2643403-2643403 9:2643403-2643403
42 VLDLR NM_003383.5(VLDLR):c.862G>T (p.Gly288Cys)SNV Uncertain significance 366365 rs886063808 9:2643669-2643669 9:2643669-2643669
43 VLDLR NM_003383.5(VLDLR):c.943+10deldeletion Uncertain significance 366367 rs761373572 9:2643758-2643758 9:2643758-2643758
44 VLDLR NM_003383.5(VLDLR):c.1755A>C (p.Gly585=)SNV Uncertain significance 366370 rs372963310 9:2647525-2647525 9:2647525-2647525
45 VLDLR NM_003383.5(VLDLR):c.-335C>TSNV Uncertain significance 366345 rs557105742 9:2621855-2621855 9:2621855-2621855
46 VLDLR NM_003383.5(VLDLR):c.-167dupduplication Uncertain significance 366346 rs886063801 9:2622018-2622019 9:2622018-2622019
47 VLDLR NM_003383.5(VLDLR):c.505A>G (p.Arg169Gly)SNV Uncertain significance 366361 rs777739092 9:2643216-2643216 9:2643216-2643216
48 VLDLR NM_003383.5(VLDLR):c.*48C>TSNV Uncertain significance 366376 rs368949453 9:2653916-2653916 9:2653916-2653916
49 VLDLR NM_003383.5(VLDLR):c.*595_*598dupduplication Uncertain significance 366384 rs886063814 9:2654460-2654461 9:2654460-2654461
50 VLDLR NM_003383.5(VLDLR):c.-122T>CSNV Uncertain significance 366348 rs886063802 9:2622068-2622068 9:2622068-2622068

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...

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