MCID: MCR222
MIFTS: 22

Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations

Categories: Genetic diseases

Aliases & Classifications for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

MalaCards integrated aliases for Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations:

Name: Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 57 75 13
Mcph2 57 75
Microcephaly, Primary Autosomal Recessive, 2 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
variable phenotype, particularly with regard to cortical malformations


HPO:

32
microcephaly 2, primary, autosomal recessive, with or without cortical malformations:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

OMIM : 57 Microcephaly-2 with or without cortical malformations is an autosomal recessive neurodevelopmental disorder showing phenotypic variability. Classically, primary microcephaly is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations (SD) below the age- and sex-matched population mean, and mental retardation with no other associated malformations and with no apparent etiology (Hofman, 1984). Patients with WDR62 mutations have head circumferences ranging from low-normal to severe (-9.8 SD), and most patients with brain scans have shown various types of cortical malformations. All have delayed psychomotor development; seizures are variable (summary by Yu et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200). (604317)

MalaCards based summary : Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations, also known as mcph2, is related to microcephaly and autosomal recessive primary microcephaly, and has symptoms including hemiparesis An important gene associated with Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations is WDR62 (WD Repeat Domain 62). Affiliated tissues include brain and cerebellum, and related phenotypes are microcephaly and sloping forehead

UniProtKB/Swiss-Prot : 75 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations: A disease characterized by microcephaly, moderate to severe mental retardation, and various type of cortical malformations in most patients. Microcephaly is defined as a head circumference more than 3 standard deviations below the age-related mean. Cortical malformations include pachygyria with cortical thickening, microgyria, lissencephaly, hypoplasia of the corpus callosum, schizencephaly. All affected individuals have delayed psychomotor development. Some patients have seizures.

Related Diseases for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

Diseases related to Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microcephaly 9.9
2 autosomal recessive primary microcephaly 9.9

Symptoms & Phenotypes for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
hypertonia
pachygyria
polymicrogyria
lissencephaly
more
Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
impulsivity
aggression
head banging

Head And Neck Head:
microcephaly (-4 to -7 sd)

Head And Neck Face:
sloping forehead
low forehead

Prenatal Manifestations Movement:
decreased fetal movements


Clinical features from OMIM:

604317

Human phenotypes related to Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 sloping forehead 32 HP:0000340
3 aggressive behavior 32 HP:0000718
4 delayed speech and language development 32 HP:0000750
5 hyperactivity 32 HP:0000752
6 intellectual disability 32 HP:0001249
7 seizures 32 frequent (33%) HP:0001250
8 global developmental delay 32 HP:0001263
9 hemiparesis 32 HP:0001269
10 spastic tetraparesis 32 HP:0001285
11 pachygyria 32 HP:0001302
12 hyperreflexia 32 HP:0001347
13 decreased fetal movement 32 HP:0001558
14 hypoplasia of the corpus callosum 32 HP:0002079
15 polymicrogyria 32 HP:0002126
16 heterotopia 32 HP:0002282
17 cortical gyral simplification 32 HP:0009879
18 schizencephaly 32 HP:0010636
19 impulsivity 32 HP:0100710

UMLS symptoms related to Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations:


hemiparesis

Drugs & Therapeutics for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

Search Clinical Trials , NIH Clinical Center for Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations

Genetic Tests for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

Anatomical Context for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

MalaCards organs/tissues related to Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations:

41
Brain, Cerebellum

Publications for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

Variations for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations:

75
# Symbol AA change Variation ID SNP ID
1 WDR62 p.Trp224Ser VAR_063702 rs267607176
2 WDR62 p.Glu526Lys VAR_063703 rs147875659
3 WDR62 p.Val65Met VAR_065843 rs387907084
4 WDR62 p.Arg438His VAR_065844 rs387907082
5 WDR62 p.Asp511Asn VAR_065845 rs387907083

ClinVar genetic disease variations for Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations:

6
(show top 50) (show all 124)
# Gene Variation Type Significance SNP ID Assembly Location
1 WDR62 NM_001083961.1(WDR62): c.4205_4208delTGCC (p.Val1402Glyfs) deletion Pathogenic rs397704721 GRCh37 Chromosome 19, 36595471: 36595474
2 WDR62 NM_001083961.1(WDR62): c.4205_4208delTGCC (p.Val1402Glyfs) deletion Pathogenic rs397704721 GRCh38 Chromosome 19, 36104569: 36104572
3 WDR62 NM_001083961.1(WDR62): c.671G> C (p.Trp224Ser) single nucleotide variant Pathogenic rs267607176 GRCh37 Chromosome 19, 36558317: 36558317
4 WDR62 NM_001083961.1(WDR62): c.671G> C (p.Trp224Ser) single nucleotide variant Pathogenic rs267607176 GRCh38 Chromosome 19, 36067415: 36067415
5 WDR62 NM_001083961.1(WDR62): c.1408C> T (p.Gln470Ter) single nucleotide variant Pathogenic rs267607177 GRCh37 Chromosome 19, 36574001: 36574001
6 WDR62 NM_001083961.1(WDR62): c.1408C> T (p.Gln470Ter) single nucleotide variant Pathogenic rs267607177 GRCh38 Chromosome 19, 36083099: 36083099
7 WDR62 NM_001083961.1(WDR62): c.3839_3855del17 (p.Gly1280Alafs) deletion Pathogenic rs397704725 GRCh37 Chromosome 19, 36594569: 36594585
8 WDR62 NM_001083961.1(WDR62): c.3839_3855del17 (p.Gly1280Alafs) deletion Pathogenic rs397704725 GRCh38 Chromosome 19, 36103667: 36103683
9 WDR62 NM_001083961.1(WDR62): c.1313G> A (p.Arg438His) single nucleotide variant Pathogenic rs387907082 GRCh37 Chromosome 19, 36572414: 36572414
10 WDR62 NM_001083961.1(WDR62): c.1313G> A (p.Arg438His) single nucleotide variant Pathogenic rs387907082 GRCh38 Chromosome 19, 36081512: 36081512
11 WDR62 NM_001083961.1(WDR62): c.4241dupT (p.Ser1415Glufs) duplication Pathogenic rs587776899 GRCh38 Chromosome 19, 36104605: 36104605
12 WDR62 NM_001083961.1(WDR62): c.4241dupT (p.Ser1415Glufs) duplication Pathogenic rs587776899 GRCh37 Chromosome 19, 36595507: 36595507
13 WDR62 NM_001083961.1(WDR62): c.1531G> A (p.Asp511Asn) single nucleotide variant Pathogenic rs387907083 GRCh37 Chromosome 19, 36574124: 36574124
14 WDR62 NM_001083961.1(WDR62): c.1531G> A (p.Asp511Asn) single nucleotide variant Pathogenic rs387907083 GRCh38 Chromosome 19, 36083222: 36083222
15 WDR62 NM_001083961.1(WDR62): c.3936dupC (p.Val1313Argfs) duplication Pathogenic rs587776900 GRCh38 Chromosome 19, 36103764: 36103764
16 WDR62 NM_001083961.1(WDR62): c.3936dupC (p.Val1313Argfs) duplication Pathogenic rs587776900 GRCh37 Chromosome 19, 36594666: 36594666
17 WDR62 NM_001083961.1(WDR62): c.363delT (p.Asp122Metfs) deletion Pathogenic rs587776901 GRCh38 Chromosome 19, 36065988: 36065988
18 WDR62 NM_001083961.1(WDR62): c.363delT (p.Asp122Metfs) deletion Pathogenic rs587776901 GRCh37 Chromosome 19, 36556890: 36556890
19 WDR62 NM_001083961.1(WDR62): c.193G> A (p.Val65Met) single nucleotide variant Pathogenic rs387907084 GRCh37 Chromosome 19, 36549697: 36549697
20 WDR62 NM_001083961.1(WDR62): c.193G> A (p.Val65Met) single nucleotide variant Pathogenic rs387907084 GRCh38 Chromosome 19, 36058795: 36058795
21 WDR62 NM_173636.4(WDR62): c.2086delA (p.Ser696Alafs) deletion Pathogenic rs863223322 GRCh38 Chromosome 19, 36091251: 36091251
22 WDR62 NM_173636.4(WDR62): c.2086delA (p.Ser696Alafs) deletion Pathogenic rs863223322 GRCh37 Chromosome 19, 36582153: 36582153
23 WDR62 NM_173636.4(WDR62): c.2746_2747delAG (p.Gln918Glyfs) deletion Pathogenic rs863223323 GRCh38 Chromosome 19, 36100754: 36100755
24 WDR62 NM_173636.4(WDR62): c.2746_2747delAG (p.Gln918Glyfs) deletion Pathogenic rs863223323 GRCh37 Chromosome 19, 36591656: 36591657
25 WDR62 NM_001083961.1(WDR62): c.3335+3A> G single nucleotide variant Likely pathogenic rs587784554 GRCh38 Chromosome 19, 36102854: 36102854
26 WDR62 NM_001083961.1(WDR62): c.32G> C (p.Arg11Pro) single nucleotide variant Uncertain significance rs587784552 GRCh37 Chromosome 19, 36545905: 36545905
27 WDR62 NM_001083961.1(WDR62): c.32G> C (p.Arg11Pro) single nucleotide variant Uncertain significance rs587784552 GRCh38 Chromosome 19, 36055003: 36055003
28 WDR62 NM_001083961.1(WDR62): c.82C> G (p.Arg28Gly) single nucleotide variant Uncertain significance rs200283315 GRCh37 Chromosome 19, 36545955: 36545955
29 WDR62 NM_001083961.1(WDR62): c.82C> G (p.Arg28Gly) single nucleotide variant Uncertain significance rs200283315 GRCh38 Chromosome 19, 36055053: 36055053
30 WDR62 NM_001083961.1(WDR62): c.180G> A (p.Val60=) single nucleotide variant Benign/Likely benign rs61742664 GRCh37 Chromosome 19, 36549684: 36549684
31 WDR62 NM_001083961.1(WDR62): c.180G> A (p.Val60=) single nucleotide variant Benign/Likely benign rs61742664 GRCh38 Chromosome 19, 36058782: 36058782
32 WDR62 NM_001083961.1(WDR62): c.332+1G> A single nucleotide variant Pathogenic rs587784553 GRCh37 Chromosome 19, 36550933: 36550933
33 WDR62 NM_001083961.1(WDR62): c.332+1G> A single nucleotide variant Pathogenic rs587784553 GRCh38 Chromosome 19, 36060031: 36060031
34 WDR62 NM_001083961.1(WDR62): c.359C> A (p.Ser120Tyr) single nucleotide variant Likely pathogenic rs587784558 GRCh37 Chromosome 19, 36556886: 36556886
35 WDR62 NM_001083961.1(WDR62): c.359C> A (p.Ser120Tyr) single nucleotide variant Likely pathogenic rs587784558 GRCh38 Chromosome 19, 36065984: 36065984
36 WDR62 NM_001083961.1(WDR62): c.589G> A (p.Val197Ile) single nucleotide variant Uncertain significance rs535488873 GRCh37 Chromosome 19, 36558235: 36558235
37 WDR62 NM_001083961.1(WDR62): c.589G> A (p.Val197Ile) single nucleotide variant Uncertain significance rs535488873 GRCh38 Chromosome 19, 36067333: 36067333
38 WDR62 NM_001083961.1(WDR62): c.964G> C (p.Ala322Pro) single nucleotide variant Uncertain significance rs587784561 GRCh37 Chromosome 19, 36562539: 36562539
39 WDR62 NM_001083961.1(WDR62): c.964G> C (p.Ala322Pro) single nucleotide variant Uncertain significance rs587784561 GRCh38 Chromosome 19, 36071637: 36071637
40 WDR62 NM_001083961.1(WDR62): c.1043+3A> G single nucleotide variant Uncertain significance rs587784541 GRCh37 Chromosome 19, 36562621: 36562621
41 WDR62 NM_001083961.1(WDR62): c.1043+3A> G single nucleotide variant Uncertain significance rs587784541 GRCh38 Chromosome 19, 36071719: 36071719
42 WDR62 NM_001083961.1(WDR62): c.1312C> T (p.Arg438Cys) single nucleotide variant Likely pathogenic rs587784542 GRCh37 Chromosome 19, 36572413: 36572413
43 WDR62 NM_001083961.1(WDR62): c.1312C> T (p.Arg438Cys) single nucleotide variant Likely pathogenic rs587784542 GRCh38 Chromosome 19, 36081511: 36081511
44 WDR62 NM_001083961.1(WDR62): c.1470C> T (p.Asp490=) single nucleotide variant Benign/Likely benign rs45567532 GRCh37 Chromosome 19, 36574063: 36574063
45 WDR62 NM_001083961.1(WDR62): c.1470C> T (p.Asp490=) single nucleotide variant Benign/Likely benign rs45567532 GRCh38 Chromosome 19, 36083161: 36083161
46 WDR62 NM_001083961.1(WDR62): c.1480G> A (p.Gly494Arg) single nucleotide variant Likely pathogenic rs587784543 GRCh37 Chromosome 19, 36574073: 36574073
47 WDR62 NM_001083961.1(WDR62): c.1480G> A (p.Gly494Arg) single nucleotide variant Likely pathogenic rs587784543 GRCh38 Chromosome 19, 36083171: 36083171
48 WDR62 NM_001083961.1(WDR62): c.1486C> T (p.Arg496Trp) single nucleotide variant Uncertain significance rs587784544 GRCh37 Chromosome 19, 36574079: 36574079
49 WDR62 NM_001083961.1(WDR62): c.1486C> T (p.Arg496Trp) single nucleotide variant Uncertain significance rs587784544 GRCh38 Chromosome 19, 36083177: 36083177
50 WDR62 NM_001083961.1(WDR62): c.1534C> G (p.Arg512Gly) single nucleotide variant Uncertain significance rs201993064 GRCh37 Chromosome 19, 36574127: 36574127

Expression for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

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