MICPCH
MCID: MNT046
MIFTS: 48

Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia (MICPCH)

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

Aliases & Classifications for Mental Retardation and Microcephaly with Pontine and Cerebellar...

MalaCards integrated aliases for Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia:

Name: Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 57 12 72 29 13 6 70
Micpch 57 12 58 72
Micpch Syndrome 57 72 36
X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome 12 58
Syndromic X-Linked Intellectual Disability Najm Type 12 15
Mental Retardation, X-Linked, Syndromic, Najm Type 57 72
Mental Retardation, Cask-Related, X-Linked 29 6
Mrxsna 57 72
Mental Retardation, Microcephaly with Pontine, Cerebellar Hypoplasia 39
Mental Retardation, X-Linked, Syndromic, Najm Type; Mrxsna 57
Mental Retardation, X-Linked, with Nystagmus 6
X-Linked Intellectual Disability, Najm Type 58
Mental Retardation X-Linked with Nystagmus 72
Mental Retardation X-Linked Cask-Related 72
Intellectual Deficit X-Linked Type Najm 72

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability, najm type
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
onset at birth or early infancy
dysmorphic facial features are variable

Inheritance:
x-linked dominant


HPO:

31
mental retardation and microcephaly with pontine and cerebellar hypoplasia:
Inheritance x-linked dominant inheritance


Classifications:

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


Summaries for Mental Retardation and Microcephaly with Pontine and Cerebellar...

OMIM® : 57 Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) is an X-linked disorder affecting females and characterized by severe intellectual disability, microcephaly, and variable degrees of pontocerebellar hypoplasia. Affected individuals have very poor psychomotor development, often without independent ambulation or speech, and axial hypotonia with or without hypertonia. Some may have sensorineural hearing loss or eye anomalies. Dysmorphic features include overall poor growth, severe microcephaly (-3.5 to -10 SD), broad nasal bridge and tip, large ears, long philtrum, micrognathia, and hypertelorism (summary by Moog et al., 2011). (300749) (Updated 05-Apr-2021)

MalaCards based summary : Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia, also known as micpch, is related to cerebellar hypoplasia and microcephaly, and has symptoms including muscle weakness and muscle spasticity. An important gene associated with Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia is CASK (Calcium/Calmodulin Dependent Serine Protein Kinase), and among its related pathways/superpathways are Transmission across Chemical Synapses and Protein-protein interactions at synapses. Affiliated tissues include brain, eye and cortex, and related phenotypes are scoliosis and nystagmus

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has material basis in heterozygous mutation or deletion in the CASK gene on chromosome Xp11.

KEGG : 36 Microcephaly with pontine and cerebellar hypoplasia (MICPCH) syndrome is a rare X-linked mental retardation syndrome, generally seen in girls, characterized by severe neurodevelopmental delay, microcephaly, and pontine and cerebellar hypoplasia. MICPCH syndrome is caused by inactivating calcium/calmodulin-dependent serine protein kinase (CASK) gene mutations. CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN.

UniProtKB/Swiss-Prot : 72 Mental retardation and microcephaly with pontine and cerebellar hypoplasia: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Affected individuals can manifest a severe phenotype consisting of severe intellectual deficit, congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia. A milder phenotype consists of mental retardation alone or associated with nystagmus.

Wikipedia : 73 Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH), also known as... more...

Related Diseases for Mental Retardation and Microcephaly with Pontine and Cerebellar...

Diseases related to Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 cerebellar hypoplasia 30.5 TSEN54 EXOSC3 CASK
2 microcephaly 29.5 VRK1 TSEN54 TRIP13 IQSEC2 EXOSC3 CASK
3 pontocerebellar hypoplasia 29.1 VRK1 TSEN54 TRIP13 EXOSC3 CASK
4 x-linked intellectual disability, najm type 11.9
5 cask-related intellectual disability 11.3
6 fg syndrome 4 10.9
7 cask-related disorders 10.9
8 cask disorders 10.3
9 hypertonia 10.2 TSEN54 CASK
10 ehlers-danlos syndrome, musculocontractural type, 2 10.2 HS3ST6 HS3ST5
11 cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 10.1 TSEN54 CASK
12 non-syndromic pontocerebellar hypoplasia 10.1 TSEN54 EXOSC3
13 pontocerebellar hypoplasia, type 4 10.1 TSEN54 TRIP13
14 alacrima, achalasia, and mental retardation syndrome 10.1
15 pontocerebellar hypoplasia, type 2a 10.0 TSEN54 TRIP13
16 peho syndrome 10.0 VRK1 TSEN54 CASK
17 spherocytosis, type 3 10.0 HS3ST6 HS3ST5
18 iqsec2 10.0 TSPYL2 IQSEC2
19 mental retardation, x-linked, syndromic, claes-jensen type 10.0 TSPYL2 IQSEC2
20 omodysplasia 10.0 HS3ST6 HS3ST5
21 pontocerebellar hypoplasia, type 1b 10.0 VRK1 EXOSC3
22 pontocerebellar hypoplasia, type 5 9.9 VRK1 TSEN54 TRIP13
23 rett syndrome 9.9
24 pontocerebellar hypoplasia type 1 9.9 VRK1 TSEN54 EXOSC3
25 anterior horn cell disease 9.9 VRK1 TSEN54 EXOSC3
26 opitz-kaveggia syndrome 9.8 LIN7A IQSEC2 CASK
27 non-syndromic x-linked intellectual disability 9.7 PPFIA3 PPFIA1 IQSEC2

Graphical network of the top 20 diseases related to Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia:



Diseases related to Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia

Symptoms & Phenotypes for Mental Retardation and Microcephaly with Pontine and Cerebellar...

Human phenotypes related to Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia:

58 31 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
2 nystagmus 58 31 occasional (7.5%) Frequent (79-30%) HP:0000639
3 sensorineural hearing impairment 58 31 occasional (7.5%) Frequent (79-30%) HP:0000407
4 strabismus 58 31 occasional (7.5%) Frequent (79-30%) HP:0000486
5 optic nerve hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000609
6 optic disc pallor 31 occasional (7.5%) HP:0000543
7 macrogyria 31 occasional (7.5%) HP:0007227
8 seizure 31 occasional (7.5%) HP:0001250
9 spasticity 58 31 Occasional (29-5%) HP:0001257
10 hypertelorism 58 31 Frequent (79-30%) HP:0000316
11 macrotia 58 31 Frequent (79-30%) HP:0000400
12 wide nasal bridge 58 31 Frequent (79-30%) HP:0000431
13 absent speech 58 31 Occasional (29-5%) HP:0001344
14 micrognathia 58 31 Frequent (79-30%) HP:0000347
15 long philtrum 58 31 Frequent (79-30%) HP:0000343
16 intellectual disability, moderate 58 31 Very frequent (99-80%) HP:0002342
17 cerebellar hypoplasia 58 31 Very frequent (99-80%) HP:0001321
18 seizures 58 Frequent (79-30%)
19 hyperreflexia 31 HP:0001347
20 failure to thrive 58 Occasional (29-5%)
21 gait disturbance 58 Frequent (79-30%)
22 high palate 31 HP:0000218
23 muscle weakness 31 HP:0001324
24 cataract 58 Frequent (79-30%)
25 global developmental delay 31 HP:0001263
26 short nose 31 HP:0003196
27 microcephaly 58 Frequent (79-30%)
28 visual impairment 58 Frequent (79-30%)
29 optic atrophy 58 Occasional (29-5%)
30 short stature 31 HP:0004322
31 hypohidrosis 31 HP:0000966
32 postnatal growth retardation 31 HP:0008897
33 epicanthus 31 HP:0000286
34 myopia 58 Frequent (79-30%)
35 cerebral cortical atrophy 58 Frequent (79-30%)
36 chorioretinal coloboma 58 Occasional (29-5%)
37 prominent nasal bridge 31 HP:0000426
38 broad forehead 58 Frequent (79-30%)
39 severe global developmental delay 58 Very frequent (99-80%)
40 decreased body weight 31 HP:0004325
41 rigidity 58 Occasional (29-5%)
42 broad nasal tip 31 HP:0000455
43 generalized hypotonia 31 HP:0001290
44 muscular hypotonia of the trunk 31 HP:0008936
45 abnormally large globe 31 HP:0001090
46 oval face 31 HP:0000300
47 progressive microcephaly 31 HP:0000253
48 dilated fourth ventricle 31 HP:0002198

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
dilated fourth ventricle
delayed psychomotor development
seizures (less common)
more
Growth Height:
short stature

Head And Neck Face:
micrognathia
long philtrum
oval face

Head And Neck Mouth:
high-arched palate

Head And Neck Ears:
large ears
hearing loss, sensorineural (less common)

Growth Other:
growth retardation, postnatal

Skeletal Spine:
scoliosis (less common)

Muscle Soft Tissue:
muscle weakness
hypotonia

Skin Nails Hair Skin:
hypohidrosis

Head And Neck Nose:
prominent nasal bridge
broad nasal tip
broad nasal bridge
small nose

Head And Neck Eyes:
epicanthal folds
large eyes
hypertelorism, mild
optic nerve hypoplasia (less common)
optic disc pallor (less common)
more
Growth Weight:
low weight

Head And Neck Head:
microcephaly, progressive (-3.5 to -10 sd)

Clinical features from OMIM®:

300749 (Updated 05-Apr-2021)

UMLS symptoms related to Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia:


muscle weakness; muscle spasticity

MGI Mouse Phenotypes related to Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.7 APBA1 CASK EXOSC3 IQSEC2 LIN7A PPFIA1
2 nervous system MP:0003631 9.28 APBA1 CASK IQSEC2 JAKMIP1 LIN7A PPFIA1

Drugs & Therapeutics for Mental Retardation and Microcephaly with Pontine and Cerebellar...

Search Clinical Trials , NIH Clinical Center for Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia

Genetic Tests for Mental Retardation and Microcephaly with Pontine and Cerebellar...

Genetic tests related to Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia:

# Genetic test Affiliating Genes
1 Mental Retardation, Cask-Related, X-Linked 29
2 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 29 CASK

Anatomical Context for Mental Retardation and Microcephaly with Pontine and Cerebellar...

MalaCards organs/tissues related to Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia:

40
Brain, Eye, Cortex, Cerebellum

Publications for Mental Retardation and Microcephaly with Pontine and Cerebellar...

Articles related to Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia:

(show all 26)
# Title Authors PMID Year
1
Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations. 57 61 6
23165780 2012
2
Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). 6 57 61
21735175 2012
3
CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia. 6 57
22709267 2012
4
Phenotypic spectrum associated with CASK loss-of-function mutations. 57 6
21954287 2011
5
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. 57 6
19165920 2008
6
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH). 6 61
28783747 2017
7
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient. 61 6
22452838 2012
8
Novel CASK mutations in cases with syndromic microcephaly. 6
29691940 2018
9
Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4. 6
21609947 2012
10
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. 6
20029458 2010
11
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 6
19377476 2009
12
A missense mutation in CASK causes FG syndrome in an Italian family. 6
19200522 2009
13
Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes. 57
17546640 2007
14
The eldest case of MICPCH with CASK mutation exhibiting gross motor regression. 61
33272775 2021
15
Microcephaly, disproportionate pontine, and cerebellar hypoplasia syndrome: Two novel mutations in the CASK gene were discovered in Chinese females. 61
33629417 2021
16
Missense mutations in CASK interfere with neurexin binding and neurexin-induced oligomerization. 61
33090494 2020
17
Postnatal Brain Growth Patterns in Pontocerebellar Hypoplasia. 61
33111306 2020
18
An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy. 61
30549415 2019
19
Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction. 61
29426960 2018
20
A clinical series using intensive neurorehabilitation to promote functional motor and cognitive skills in three girls with CASK mutation. 61
29258560 2017
21
A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly. 61
28944139 2017
22
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. 61
27799067 2016
23
Late-onset epileptic spasms in a female patient with a CASK mutation. 61
25765806 2015
24
Phenotypic and molecular insights into CASK-related disorders in males. 61
25886057 2015
25
CASK Disorders 61
24278995 2013
26
MICrocephaly, disproportionate pontine and cerebellar hypoplasia syndrome: A clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation. 61
23901204 2013

Variations for Mental Retardation and Microcephaly with Pontine and Cerebellar...

ClinVar genetic disease variations for Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia:

6 (show top 50) (show all 165)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CASK NM_003688.3(CASK):c.915G>A (p.Lys305=) SNV Pathogenic 11531 rs387906499 GRCh37: X:41495831-41495831
GRCh38: X:41636578-41636578
2 CASK NG_016754.1:g.5000-?_5105+?del Deletion Pathogenic 29940 GRCh37:
GRCh38:
3 CASK NM_003688.3(CASK):c.1976G>A (p.Gly659Asp) SNV Pathogenic 180215 rs727505397 GRCh37: X:41413035-41413035
GRCh38: X:41553782-41553782
4 CASK NM_003688.3(CASK):c.68del (p.Phe23fs) Deletion Pathogenic 431176 rs1135401762 GRCh37: X:41712472-41712472
GRCh38: X:41853219-41853219
5 CASK NM_003688.3(CASK):c.2589+1G>T SNV Pathogenic 433537 rs1555972599 GRCh37: X:41383203-41383203
GRCh38: X:41523950-41523950
6 CASK NM_003688.3(CASK):c.1315-7A>G SNV Pathogenic 446287 rs1555986221 GRCh37: X:41437788-41437788
GRCh38: X:41578535-41578535
7 CASK NM_003688.3(CASK):c.109C>T (p.Gln37Ter) SNV Pathogenic 446288 rs1556254569 GRCh37: X:41712431-41712431
GRCh38: X:41853178-41853178
8 CASK and overlap with 2 gene(s) NC_000023.11:g.(?_41520400)_(41923008_?)del Deletion Pathogenic 832451 GRCh37: X:41379653-41782261
GRCh38:
9 CASK NM_003688.3(CASK):c.1385_1394del (p.Pro462fs) Deletion Pathogenic 803984 rs1602292205 GRCh37: X:41437702-41437711
GRCh38: X:41578449-41578458
10 CASK NM_003688.3(CASK):c.774_780del (p.Met258fs) Deletion Pathogenic 803986 rs1602424869 GRCh37: X:41519743-41519749
GRCh38: X:41660490-41660496
11 CASK NM_003688.3(CASK):c.2302+1G>A SNV Pathogenic 446289 rs1555975458 GRCh37: X:41393958-41393958
GRCh38: X:41534705-41534705
12 CASK NM_003688.3(CASK):c.1578del (p.Arg526fs) Deletion Pathogenic 952873 GRCh37: X:41428925-41428925
GRCh38: X:41569672-41569672
13 CASK NM_003688.3(CASK):c.2302+1G>A SNV Pathogenic 446289 rs1555975458 GRCh37: X:41393958-41393958
GRCh38: X:41534705-41534705
14 CASK NM_003688.3(CASK):c.2303-2A>G SNV Pathogenic 216899 rs863224854 GRCh37: X:41390464-41390464
GRCh38: X:41531211-41531211
15 CASK NM_003688.3(CASK):c.1997dup (p.Asn666fs) Duplication Pathogenic 828187 rs1602253464 GRCh37: X:41413013-41413014
GRCh38: X:41553760-41553761
16 CASK NM_003688.3:c.116_117delCA Deletion Pathogenic 374802 GRCh37:
GRCh38:
17 CASK NM_001367721.1(CASK):c.1639C>T (p.Gln547Ter) SNV Pathogenic 29941 rs387906705 GRCh37: X:41420841-41420841
GRCh38: X:41561588-41561588
18 CASK NM_001367721.1(CASK):c.1644_1645del (p.Val549fs) Deletion Pathogenic 158066 rs587783357 GRCh37: X:41420835-41420836
GRCh38: X:41561582-41561583
19 CASK NM_001367721.1(CASK):c.20_27del (p.Leu7fs) Deletion Pathogenic 158071 rs587783362 GRCh37: X:41782215-41782222
GRCh38: X:41922962-41922969
20 CASK NM_001367721.1(CASK):c.2485C>T (p.Gln829Ter) SNV Pathogenic 158074 rs587783364 GRCh37: X:41390295-41390295
GRCh38: X:41531042-41531042
21 CASK NM_001367721.1(CASK):c.430-2A>T SNV Pathogenic 158077 rs587783366 GRCh37: X:41530785-41530785
GRCh38: X:41671532-41671532
22 CASK NM_001367721.1(CASK):c.708+1G>A SNV Pathogenic 158082 rs587783368 GRCh37: X:41524529-41524529
GRCh38: X:41665276-41665276
23 CASK NM_001367721.1(CASK):c.880C>T (p.Gln294Ter) SNV Pathogenic 158087 rs587783371 GRCh37: X:41495866-41495866
GRCh38: X:41636613-41636613
24 CASK NM_001367721.1(CASK):c.1981del (p.Leu661fs) Deletion Pathogenic 210581 rs797045431 GRCh37: X:41413030-41413030
GRCh38: X:41553777-41553777
25 CASK NM_001367721.1(CASK):c.2544_2545AG[1] (p.Glu849fs) Microsatellite Pathogenic 210586 rs797045433 GRCh37: X:41383261-41383262
GRCh38: X:41524008-41524009
26 CASK NM_001367721.1(CASK):c.1864G>T (p.Glu622Ter) SNV Pathogenic 434587 rs1555980033 GRCh37: X:41413147-41413147
GRCh38: X:41553894-41553894
27 CASK NM_001367721.1(CASK):c.2549_2550del (p.Phe850fs) Deletion Pathogenic 434586 rs1555972628 GRCh37: X:41383258-41383259
GRCh38: X:41524005-41524006
28 CASK NC_000023.11:g.(?_41853095)_(41853247_?)del Deletion Pathogenic 653532 GRCh37: X:41712348-41712500
GRCh38: X:41853095-41853247
29 CASK NM_001367721.1(CASK):c.83G>T (p.Arg28Leu) SNV Pathogenic 11532 rs137852816 GRCh37: X:41712457-41712457
GRCh38: X:41853204-41853204
30 CASK NM_001367721.1(CASK):c.802T>C (p.Tyr268His) SNV Pathogenic 11533 rs137852817 GRCh37: X:41519721-41519721
GRCh38: X:41660468-41660468
31 CASK NM_001367721.1(CASK):c.2129A>G (p.Asp710Gly) SNV Pathogenic 11534 rs137852818 GRCh37: X:41401970-41401970
GRCh38: X:41542717-41542717
32 CASK NM_001367721.1(CASK):c.2755T>C (p.Trp919Arg) SNV Pathogenic 11535 rs137852819 GRCh37: X:41379699-41379699
GRCh38: X:41520446-41520446
33 CASK NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser) SNV Pathogenic 11536 rs137852820 GRCh37: X:41448815-41448815
GRCh38: X:41589562-41589562
34 CASK NM_001367721.1(CASK):c.2183A>G (p.Tyr728Cys) SNV Pathogenic 29937 rs398122844 GRCh37: X:41394199-41394199
GRCh38: X:41534946-41534946
35 CASK NM_001367721.1(CASK):c.2521-2A>T SNV Pathogenic 29938 rs398122845 GRCh37: X:41383289-41383289
GRCh38: X:41524036-41524036
36 CASK NM_001367721.1(CASK):c.2392C>T (p.Gln798Ter) SNV Pathogenic 210585 rs749742837 GRCh37: X:41390388-41390388
GRCh38: X:41531135-41531135
37 CASK NM_001367721.1(CASK):c.1641_1644del (p.Thr548fs) Deletion Pathogenic 570810 rs1569306724 GRCh37: X:41420836-41420839
GRCh38: X:41561583-41561586
38 CASK NM_001367721.1(CASK):c.533-2A>G SNV Pathogenic 632601 rs1569380062 GRCh37: X:41524707-41524707
GRCh38: X:41665454-41665454
39 CASK NM_001367721.1(CASK):c.2120dup (p.Tyr708fs) Duplication Pathogenic 632602 rs1569295677 GRCh37: X:41401978-41401979
GRCh38: X:41542725-41542726
40 CASK NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter) SNV Pathogenic 434588 rs886128077 GRCh37: X:41495900-41495900
GRCh38: X:41636647-41636647
41 CASK NM_001367721.1(CASK):c.913_914dup (p.Gly306fs) Duplication Pathogenic 689749 rs1602386709 GRCh37: X:41495831-41495832
GRCh38: X:41636578-41636579
42 CASK NM_001367721.1(CASK):c.916-1G>A SNV Pathogenic 930346 GRCh37: X:41485957-41485957
GRCh38: X:41626704-41626704
43 CASK NM_001367721.1(CASK):c.1915C>T (p.Arg639Ter) SNV Pathogenic 11530 rs137852815 GRCh37: X:41413096-41413096
GRCh38: X:41553843-41553843
44 CASK NM_001367721.1(CASK):c.316C>T (p.Arg106Ter) SNV Pathogenic 29939 rs387906704 GRCh37: X:41604817-41604817
GRCh38: X:41745564-41745564
45 CASK NM_001367721.1(CASK):c.2041C>T (p.Arg681Ter) SNV Pathogenic 158069 rs587783360 GRCh37: X:41402058-41402058
GRCh38: X:41542805-41542805
46 CASK NM_001367721.1(CASK):c.1837C>T (p.Arg613Ter) SNV Pathogenic 418109 rs779508996 GRCh37: X:41414858-41414858
GRCh38: X:41555605-41555605
47 CASK NM_001367721.1(CASK):c.626T>C (p.Leu209Pro) SNV Pathogenic 432816 rs1556014749 GRCh37: X:41524612-41524612
GRCh38: X:41665359-41665359
48 CASK NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter) SNV Pathogenic 434588 rs886128077 GRCh37: X:41495900-41495900
GRCh38: X:41636647-41636647
49 CASK NM_003688.3(CASK):c.824G>A (p.Trp275Ter) SNV Pathogenic 638400 rs1602424764 GRCh37: X:41519699-41519699
GRCh38: X:41660446-41660446
50 CASK NM_001367721.1(CASK):c.79C>T (p.Arg27Ter) SNV Pathogenic 195200 rs794727270 GRCh37: X:41712461-41712461
GRCh38: X:41853208-41853208

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia:

72
# Symbol AA change Variation ID SNP ID
1 CASK p.Tyr268His VAR_062996 rs137852817
2 CASK p.Pro396Ser VAR_062997 rs137852820
3 CASK p.Asp710Gly VAR_062998 rs137852818

Expression for Mental Retardation and Microcephaly with Pontine and Cerebellar...

Search GEO for disease gene expression data for Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia.

Pathways for Mental Retardation and Microcephaly with Pontine and Cerebellar...

GO Terms for Mental Retardation and Microcephaly with Pontine and Cerebellar...

Cellular components related to Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 presynaptic active zone GO:0048786 8.96 PPFIA3 PPFIA1
2 Schaffer collateral - CA1 synapse GO:0098685 8.8 IQSEC2 CASK APBA1

Biological processes related to Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of synaptic vesicle exocytosis GO:2000300 9.26 CASK APBA1
2 glycosaminoglycan biosynthetic process GO:0006024 9.16 HS3ST6 HS3ST5
3 glutamate secretion GO:0014047 9.13 PPFIA3 PPFIA1 APBA1
4 neurotransmitter secretion GO:0007269 9.02 PPFIA3 PPFIA1 LIN7A CASK APBA1

Molecular functions related to Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity GO:0008467 8.62 HS3ST6 HS3ST5

Sources for Mental Retardation and Microcephaly with Pontine and Cerebellar...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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