MCID: ISL120
MIFTS: 27

Isolated Cerebellar Agenesis

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Isolated Cerebellar Agenesis

MalaCards integrated aliases for Isolated Cerebellar Agenesis:

Name: Isolated Cerebellar Agenesis 58
Near Total Absence of Cerebellum 58
Subtotal Absence of Cerebellum 58

Characteristics:

Orphanet epidemiological data:

58
isolated cerebellar agenesis
Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q04.3
UMLS via Orphanet 72 C0266470 C0344488
Orphanet 58 ORPHA1398

Summaries for Isolated Cerebellar Agenesis

MalaCards based summary : Isolated Cerebellar Agenesis, also known as near total absence of cerebellum, is related to dyskinetic cerebral palsy and diaphragmatic eventration. An important gene associated with Isolated Cerebellar Agenesis is ATAD3A (ATPase Family AAA Domain Containing 3A). Affiliated tissues include cerebellum, brain and eye, and related phenotypes are muscular hypotonia and ataxia

Related Diseases for Isolated Cerebellar Agenesis

Diseases related to Isolated Cerebellar Agenesis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dyskinetic cerebral palsy 9.9 TSEN54 ATAD3A
2 diaphragmatic eventration 9.7 TSEN54 OXR1
3 pontocerebellar hypoplasia 9.7 TSEN54 ATAD3A
4 aceruloplasminemia 9.4 PMM2 PLA2G6
5 walker-warburg syndrome 9.2 TSEN54 PMM2
6 cerebellar hypoplasia 8.9 TSEN54 PMM2 OXR1 ATAD3A
7 cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 7.8 TSEN54 PMM2 PLA2G6 OXR1 KIAA0586 FLG

Graphical network of the top 20 diseases related to Isolated Cerebellar Agenesis:



Diseases related to Isolated Cerebellar Agenesis

Symptoms & Phenotypes for Isolated Cerebellar Agenesis

Human phenotypes related to Isolated Cerebellar Agenesis:

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 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
3 abnormality of eye movement 58 31 hallmark (90%) Very frequent (99-80%) HP:0000496
4 behavioral abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000708
5 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
6 neurological speech impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002167
7 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
8 hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0001276
9 abnormality of movement 58 31 frequent (33%) Frequent (79-30%) HP:0100022
10 seizure 31 frequent (33%) HP:0001250
11 seizures 58 Frequent (79-30%)

GenomeRNAi Phenotypes related to Isolated Cerebellar Agenesis 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 Isolated Cerebellar Agenesis:

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 Isolated Cerebellar Agenesis

Search Clinical Trials , NIH Clinical Center for Isolated Cerebellar Agenesis

Genetic Tests for Isolated Cerebellar Agenesis

Anatomical Context for Isolated Cerebellar Agenesis

MalaCards organs/tissues related to Isolated Cerebellar Agenesis:

40
Cerebellum, Brain, Eye

Publications for Isolated Cerebellar Agenesis

Articles related to Isolated Cerebellar Agenesis:

# Title Authors PMID Year
1
Cerebellar agenesis and diabetes insipidus. 61
15627945 2004
2
MRI findings in a neonate with cerebellar agenesis. 61
9744635 1998

Variations for Isolated Cerebellar Agenesis

ClinVar genetic disease variations for Isolated Cerebellar Agenesis:

6 (show top 50) (show all 88) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 Isolated Cerebellar Agenesis

Search GEO for disease gene expression data for Isolated Cerebellar Agenesis.

Pathways for Isolated Cerebellar Agenesis

GO Terms for Isolated Cerebellar Agenesis

Sources for Isolated Cerebellar Agenesis

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