CHEGDD
MCID: CRB215
MIFTS: 28

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
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome 58
Chegdd 56

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 cerebellar hypoplasia-tapetoretinal degeneration syndrome, 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

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 9.4 TSEN54 ATAD3A

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 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
3 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 abnormal electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0000512
5 visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000505
6 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
7 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
8 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
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
Head And Neck Eyes:
hypertelorism

Neurologic Central Nervous System:
global developmental delay
cerebellar dysplasia
speech delay
delayed walking
impaired intellectual development
more
Skeletal Hands:
long fingers

Skeletal:
joint hyperlaxity

Skeletal Feet:
long toes

Skeletal Spine:
scoliosis

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

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:

6 (show top 50) (show all 79) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 TSEN54 NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)SNV Pathogenic/Likely pathogenic 2120 rs113994152 17:73518081-73518081 17:75522000-75522000
6 KCTD3 NM_016121.5(KCTD3):c.1036_1073del (p.Pro346fs)deletion Likely pathogenic 183346 rs730882243 1:215775441-215775478 1:215602099-215602136
7 CASK NM_003688.3(CASK):c.2221+1delinsATindel Likely pathogenic 523464 rs1555975523 X:41394145-41394145 X:41534892-41534892
8 WDR37 NM_014023.4(WDR37):c.356C>T (p.Ser119Phe)SNV Likely pathogenic 633617 10:1126376-1126376 10:1080436-1080436
9 WDR37 NM_014023.4(WDR37):c.386C>G (p.Ser129Cys)SNV Likely pathogenic 633616 10:1126406-1126406 10:1080466-1080466
10 WDR37 NM_014023.4(WDR37):c.389C>T (p.Thr130Ile)SNV Likely pathogenic 633618 10:1126409-1126409 10:1080469-1080469
11 ARID1A NM_006015.6(ARID1A):c.5090A>G (p.Asp1697Gly)SNV Likely pathogenic 523488 rs375761808 1:27102164-27102164 1:26775673-26775673
12 OPHN1 NM_002547.3(OPHN1):c.746T>C (p.Leu249Pro)SNV Likely pathogenic 374192 rs1057518963 X:67430081-67430081 X:68210239-68210239
13 WDR37 NM_014023.4(WDR37):c.374C>T (p.Thr125Ile)SNV Likely pathogenic 440948 rs1554823375 10:1126394-1126394 10:1080454-1080454
14 SEPSECS NM_016955.4(SEPSECS):c.388+5G>ASNV Likely pathogenic 374085 rs1057518887 4:25158473-25158473 4:25156851-25156851
15 VLDLR NM_003383.5(VLDLR):c.1791G>A (p.Ala597=)SNV Conflicting interpretations of pathogenicity 366371 rs115773578 9:2647561-2647561 9:2647561-2647561
16 VLDLR NM_003383.5(VLDLR):c.792C>T (p.Cys264=)SNV Conflicting interpretations of pathogenicity 212564 rs141850403 9:2643503-2643503 9:2643503-2643503
17 USH2A NM_206933.3(USH2A):c.14027A>G (p.Gln4676Arg)SNV Conflicting interpretations of pathogenicity 48425 rs397517987 1:215844420-215844420 1:215671078-215671078
18 USH2A NM_206933.3(USH2A):c.1966G>A (p.Asp656Asn)SNV Conflicting interpretations of pathogenicity 48481 rs146824138 1:216462627-216462627 1:216289285-216289285
19 VLDLR NM_003383.5(VLDLR):c.2041C>T (p.Leu681=)SNV Conflicting interpretations of pathogenicity 130706 rs79720897 9:2648747-2648747 9:2648747-2648747
20 VLDLR NM_003383.5(VLDLR):c.-42_-40GGC[9]short repeat Conflicting interpretations of pathogenicity 287823 rs71329437 9:2622146-2622147 9:2622146-2622147
21 VLDLR NM_003383.5(VLDLR):c.-42_-40GGC[5]short repeat Conflicting interpretations of pathogenicity 290493 rs71329437 9:2622147-2622155 9:2622147-2622155
22 VLDLR NM_003383.5(VLDLR):c.582C>T (p.Gly194=)SNV Conflicting interpretations of pathogenicity 366363 rs148012674 9:2643293-2643293 9:2643293-2643293
23 VLDLR NM_003383.5(VLDLR):c.863G>C (p.Gly288Ala)SNV Uncertain significance 366366 rs886063809 9:2643670-2643670 9:2643670-2643670
24 VLDLR NM_003383.5(VLDLR):c.1703+10C>GSNV Uncertain significance 366369 rs372047946 9:2646562-2646562 9:2646562-2646562
25 VLDLR NM_003383.5(VLDLR):c.*460G>ASNV Uncertain significance 366380 rs550310153 9:2654328-2654328 9:2654328-2654328
26 VLDLR NM_003383.5(VLDLR):c.*490T>GSNV Uncertain significance 366381 rs886063812 9:2654358-2654358 9:2654358-2654358
27 VLDLR NM_003383.5(VLDLR):c.*517G>CSNV Uncertain significance 366382 rs886063813 9:2654385-2654385 9:2654385-2654385
28 VLDLR NM_003383.5(VLDLR):c.-111C>TSNV Uncertain significance 366351 rs374367278 9:2622079-2622079 9:2622079-2622079
29 VLDLR NM_003383.5(VLDLR):c.-335C>TSNV Uncertain significance 366345 rs557105742 9:2621855-2621855 9:2621855-2621855
30 VLDLR NM_003383.5(VLDLR):c.-167dupduplication Uncertain significance 366346 rs886063801 9:2622018-2622019 9:2622018-2622019
31 VLDLR NM_003383.5(VLDLR):c.-113C>GSNV Uncertain significance 366350 rs34433332 9:2622077-2622077 9:2622077-2622077
32 VLDLR NM_003383.5(VLDLR):c.-56_-54deldeletion Uncertain significance 366353 rs886063804 9:2622132-2622134 9:2622132-2622134
33 VLDLR NM_003383.5(VLDLR):c.-25_-24insATCCAGinsertion Uncertain significance 366357 rs886063807 9:2622165-2622166 9:2622165-2622166
34 VLDLR NM_003383.5(VLDLR):c.692G>A (p.Arg231His)SNV Uncertain significance 366364 rs767529669 9:2643403-2643403 9:2643403-2643403
35 VLDLR NM_003383.5(VLDLR):c.862G>T (p.Gly288Cys)SNV Uncertain significance 366365 rs886063808 9:2643669-2643669 9:2643669-2643669
36 VLDLR NM_003383.5(VLDLR):c.943+10deldeletion Uncertain significance 366367 rs761373572 9:2643758-2643758 9:2643758-2643758
37 VLDLR NM_003383.5(VLDLR):c.1755A>C (p.Gly585=)SNV Uncertain significance 366370 rs372963310 9:2647525-2647525 9:2647525-2647525
38 VLDLR NM_003383.5(VLDLR):c.1643A>G (p.Lys548Arg)SNV Uncertain significance 130704 rs148487944 9:2646492-2646492 9:2646492-2646492
39 46;XY;t(3;18)(q13.2;q11.2)dnTranslocation Uncertain significance 267908
40 VLDLR NM_003383.5(VLDLR):c.1532A>G (p.Asn511Ser)SNV Uncertain significance 212553 rs182216426 9:2646381-2646381 9:2646381-2646381
41 VLDLR NM_003383.5(VLDLR):c.1838G>A (p.Arg613His)SNV Uncertain significance 212555 rs35948251 9:2648223-2648223 9:2648223-2648223
42 VLDLR NM_003383.5(VLDLR):c.1901G>A (p.Arg634His)SNV Uncertain significance 194212 rs35339834 9:2648286-2648286 9:2648286-2648286
43 VLDLR NM_003383.5(VLDLR):c.732C>G (p.Ile244Met)SNV Uncertain significance 212561 rs145995735 9:2643443-2643443 9:2643443-2643443
44 VLDLR NM_003383.5(VLDLR):c.1966C>T (p.Arg656Cys)SNV Uncertain significance 366372 rs754226022 9:2648672-2648672 9:2648672-2648672
45 VLDLR NM_003383.5(VLDLR):c.*16T>CSNV Uncertain significance 366375 rs150475109 9:2653884-2653884 9:2653884-2653884
46 VLDLR NM_003383.5(VLDLR):c.*63C>TSNV Uncertain significance 366377 rs17848373 9:2653931-2653931 9:2653931-2653931
47 VLDLR NM_003383.5(VLDLR):c.-42_-40GGC[4]short repeat Uncertain significance 366356 rs71329437 9:2622147-2622158 9:2622147-2622158
48 VLDLR NM_003383.5(VLDLR):c.-42_-40GGC[7]short repeat Uncertain significance 366355 rs71329437 9:2622147-2622149 9:2622147-2622149
49 VLDLR NM_003383.5(VLDLR):c.-19_-18insGGCACCGGCinsertion Uncertain significance 366358 rs1554617688 9:2622167-2622168 9:2622167-2622168
50 VLDLR NM_003383.5(VLDLR):c.449-12C>TSNV Uncertain significance 366360 rs73640152 9:2643148-2643148 9:2643148-2643148

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....