MCID: MCR248
MIFTS: 22

Microcephaly 3, Primary, Autosomal Recessive

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

Aliases & Classifications for Microcephaly 3, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 3, Primary, Autosomal Recessive:

Name: Microcephaly 3, Primary, Autosomal Recessive 57 75 13
Primary Autosomal Recessive Microcephaly 3 29 6
Mcph3 57 75
Microcephaly, Primary Autosomal Recessive, 3 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
microcephaly 3, primary, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 604804
MedGen 42 C1858108
MeSH 44 D008831
UMLS 73 C1858108

Summaries for Microcephaly 3, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 Microcephaly 3, primary, autosomal recessive: A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder.

MalaCards based summary : Microcephaly 3, Primary, Autosomal Recessive, also known as primary autosomal recessive microcephaly 3, is related to microcephaly. An important gene associated with Microcephaly 3, Primary, Autosomal Recessive is CDK5RAP2 (CDK5 Regulatory Subunit Associated Protein 2). Affiliated tissues include cortex, brain and eye, and related phenotypes are global developmental delay and microcephaly

Description from OMIM: 604804

Related Diseases for Microcephaly 3, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 3, Primary, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly, severe (-4 to -8 sds)
sloping forehead

Head And Neck Eyes:
prominent eyes (in one patient)

Neurologic Central Nervous System:
mental retardation, mild to moderate
developmental delay
small but structurally normal cerebral cortex
simplified gyral pattern (in one patient)
small frontal lobes (in one patient)
more
Head And Neck Ears:
hearing loss, sensorineural (in some patients)

Head And Neck Teeth:
conical-shaped teeth (in one patient)


Clinical features from OMIM:

604804

Human phenotypes related to Microcephaly 3, Primary, Autosomal Recessive:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 HP:0001263
2 microcephaly 32 HP:0000252
3 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
4 intellectual disability, moderate 32 HP:0002342
5 proptosis 32 occasional (7.5%) HP:0000520
6 sloping forehead 32 HP:0000340
7 small cerebral cortex 32 HP:0002472
8 cortical gyral simplification 32 occasional (7.5%) HP:0009879

Drugs & Therapeutics for Microcephaly 3, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 3, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 3, Primary, Autosomal Recessive

Genetic tests related to Microcephaly 3, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Primary Autosomal Recessive Microcephaly 3 29 CDK5RAP2

Anatomical Context for Microcephaly 3, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 3, Primary, Autosomal Recessive:

41
Cortex, Brain, Eye

Publications for Microcephaly 3, Primary, Autosomal Recessive

Variations for Microcephaly 3, Primary, Autosomal Recessive

ClinVar genetic disease variations for Microcephaly 3, Primary, Autosomal Recessive:

6
(show top 50) (show all 78)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDK5RAP2 NM_018249.5(CDK5RAP2): c.246T> A (p.Tyr82Ter) single nucleotide variant Pathogenic rs199422126 GRCh37 Chromosome 9, 123313130: 123313130
2 CDK5RAP2 NM_018249.5(CDK5RAP2): c.246T> A (p.Tyr82Ter) single nucleotide variant Pathogenic rs199422126 GRCh38 Chromosome 9, 120550852: 120550852
3 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4005-15A> G single nucleotide variant Pathogenic rs387906274 GRCh37 Chromosome 9, 123182253: 123182253
4 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4005-15A> G single nucleotide variant Pathogenic rs387906274 GRCh38 Chromosome 9, 120419975: 120419975
5 CDK5RAP2 NM_018249.5(CDK5RAP2): c.700G> T (p.Glu234Ter) single nucleotide variant Pathogenic rs398122971 GRCh37 Chromosome 9, 123292381: 123292381
6 CDK5RAP2 NM_018249.5(CDK5RAP2): c.700G> T (p.Glu234Ter) single nucleotide variant Pathogenic rs398122971 GRCh38 Chromosome 9, 120530103: 120530103
7 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4546G> T (p.Glu1516Ter) single nucleotide variant Pathogenic rs374351172 GRCh37 Chromosome 9, 123171463: 123171463
8 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4546G> T (p.Glu1516Ter) single nucleotide variant Pathogenic rs374351172 GRCh38 Chromosome 9, 120409185: 120409185
9 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4672C> T (p.Arg1558Ter) single nucleotide variant Pathogenic rs373278668 GRCh37 Chromosome 9, 123170679: 123170679
10 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4672C> T (p.Arg1558Ter) single nucleotide variant Pathogenic rs373278668 GRCh38 Chromosome 9, 120408401: 120408401
11 CDK5RAP2 NM_018249.5(CDK5RAP2): c.524_528delAGGCA (p.Gln175Argfs) deletion Pathogenic rs587783393 GRCh37 Chromosome 9, 123298784: 123298788
12 CDK5RAP2 NM_018249.5(CDK5RAP2): c.524_528delAGGCA (p.Gln175Argfs) deletion Pathogenic rs587783393 GRCh38 Chromosome 9, 120536506: 120536510
13 CDK5RAP2 NM_018249.5(CDK5RAP2): c.5227C> T (p.Gln1743Ter) single nucleotide variant Pathogenic rs587783392 GRCh37 Chromosome 9, 123165164: 123165164
14 CDK5RAP2 NM_018249.5(CDK5RAP2): c.5448G> A (p.Glu1816=) single nucleotide variant Uncertain significance rs587783396 GRCh37 Chromosome 9, 123163023: 123163023
15 CDK5RAP2 NM_018249.5(CDK5RAP2): c.5448G> A (p.Glu1816=) single nucleotide variant Uncertain significance rs587783396 GRCh38 Chromosome 9, 120400745: 120400745
16 CDK5RAP2 NM_018249.5(CDK5RAP2): c.5413C> T (p.Leu1805Phe) single nucleotide variant Uncertain significance rs545543130 GRCh37 Chromosome 9, 123163058: 123163058
17 CDK5RAP2 NM_018249.5(CDK5RAP2): c.5413C> T (p.Leu1805Phe) single nucleotide variant Uncertain significance rs545543130 GRCh38 Chromosome 9, 120400780: 120400780
18 CDK5RAP2 NM_018249.5(CDK5RAP2): c.5359A> C (p.Lys1787Gln) single nucleotide variant Uncertain significance rs587783395 GRCh37 Chromosome 9, 123163112: 123163112
19 CDK5RAP2 NM_018249.5(CDK5RAP2): c.5359A> C (p.Lys1787Gln) single nucleotide variant Uncertain significance rs587783395 GRCh38 Chromosome 9, 120400834: 120400834
20 CDK5RAP2 NM_018249.5(CDK5RAP2): c.5227C> T (p.Gln1743Ter) single nucleotide variant Pathogenic rs587783392 GRCh38 Chromosome 9, 120402886: 120402886
21 CDK5RAP2 NM_018249.5(CDK5RAP2): c.5152C> G (p.Leu1718Val) single nucleotide variant Uncertain significance rs141004029 GRCh37 Chromosome 9, 123165239: 123165239
22 CDK5RAP2 NM_018249.5(CDK5RAP2): c.5152C> G (p.Leu1718Val) single nucleotide variant Uncertain significance rs141004029 GRCh38 Chromosome 9, 120402961: 120402961
23 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4822A> G (p.Ser1608Gly) single nucleotide variant Uncertain significance rs372057183 GRCh37 Chromosome 9, 123169431: 123169431
24 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4822A> G (p.Ser1608Gly) single nucleotide variant Uncertain significance rs372057183 GRCh38 Chromosome 9, 120407153: 120407153
25 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4441C> T (p.Arg1481Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587783390 GRCh37 Chromosome 9, 123171568: 123171568
26 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4441C> T (p.Arg1481Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587783390 GRCh38 Chromosome 9, 120409290: 120409290
27 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4425G> T (p.Lys1475Asn) single nucleotide variant Uncertain significance rs587783389 GRCh37 Chromosome 9, 123171584: 123171584
28 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4425G> T (p.Lys1475Asn) single nucleotide variant Uncertain significance rs587783389 GRCh38 Chromosome 9, 120409306: 120409306
29 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4393A> G (p.Met1465Val) single nucleotide variant Uncertain significance rs201864352 GRCh37 Chromosome 9, 123173657: 123173657
30 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4393A> G (p.Met1465Val) single nucleotide variant Uncertain significance rs201864352 GRCh38 Chromosome 9, 120411379: 120411379
31 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4338T> A (p.Ser1446Arg) single nucleotide variant Uncertain significance rs143341041 GRCh37 Chromosome 9, 123173712: 123173712
32 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4338T> A (p.Ser1446Arg) single nucleotide variant Uncertain significance rs143341041 GRCh38 Chromosome 9, 120411434: 120411434
33 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4325C> T (p.Ser1442Leu) single nucleotide variant Uncertain significance rs376138280 GRCh37 Chromosome 9, 123173725: 123173725
34 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4325C> T (p.Ser1442Leu) single nucleotide variant Uncertain significance rs376138280 GRCh38 Chromosome 9, 120411447: 120411447
35 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4055A> G (p.Glu1352Gly) single nucleotide variant Uncertain significance rs587783388 GRCh37 Chromosome 9, 123182188: 123182188
36 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4055A> G (p.Glu1352Gly) single nucleotide variant Uncertain significance rs587783388 GRCh38 Chromosome 9, 120419910: 120419910
37 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4005-1G> A single nucleotide variant Pathogenic rs587783387 GRCh37 Chromosome 9, 123182239: 123182239
38 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4005-1G> A single nucleotide variant Pathogenic rs587783387 GRCh38 Chromosome 9, 120419961: 120419961
39 CDK5RAP2 NM_018249.5(CDK5RAP2): c.3859G> T (p.Ala1287Ser) single nucleotide variant Uncertain significance rs587783386 GRCh37 Chromosome 9, 123199669: 123199669
40 CDK5RAP2 NM_018249.5(CDK5RAP2): c.3859G> T (p.Ala1287Ser) single nucleotide variant Uncertain significance rs587783386 GRCh38 Chromosome 9, 120437391: 120437391
41 CDK5RAP2 NM_018249.5(CDK5RAP2): c.3686A> G (p.Asn1229Ser) single nucleotide variant Uncertain significance rs148403620 GRCh37 Chromosome 9, 123201713: 123201713
42 CDK5RAP2 NM_018249.5(CDK5RAP2): c.3686A> G (p.Asn1229Ser) single nucleotide variant Uncertain significance rs148403620 GRCh38 Chromosome 9, 120439435: 120439435
43 CDK5RAP2 NM_018249.5(CDK5RAP2): c.3679A> T (p.Ile1227Phe) single nucleotide variant Uncertain significance rs139203975 GRCh37 Chromosome 9, 123201720: 123201720
44 CDK5RAP2 NM_018249.5(CDK5RAP2): c.3679A> T (p.Ile1227Phe) single nucleotide variant Uncertain significance rs139203975 GRCh38 Chromosome 9, 120439442: 120439442
45 CDK5RAP2 NM_018249.5(CDK5RAP2): c.3285G> C (p.Met1095Ile) single nucleotide variant Uncertain significance rs587783385 GRCh37 Chromosome 9, 123202114: 123202114
46 CDK5RAP2 NM_018249.5(CDK5RAP2): c.3285G> C (p.Met1095Ile) single nucleotide variant Uncertain significance rs587783385 GRCh38 Chromosome 9, 120439836: 120439836
47 CDK5RAP2 NM_018249.5(CDK5RAP2): c.3258T> C (p.Ser1086=) single nucleotide variant Uncertain significance rs587783384 GRCh37 Chromosome 9, 123202141: 123202141
48 CDK5RAP2 NM_018249.5(CDK5RAP2): c.3258T> C (p.Ser1086=) single nucleotide variant Uncertain significance rs587783384 GRCh38 Chromosome 9, 120439863: 120439863
49 CDK5RAP2 NM_018249.5(CDK5RAP2): c.3034C> G (p.Pro1012Ala) single nucleotide variant Uncertain significance rs141496431 GRCh37 Chromosome 9, 123206012: 123206012
50 CDK5RAP2 NM_018249.5(CDK5RAP2): c.3034C> G (p.Pro1012Ala) single nucleotide variant Uncertain significance rs141496431 GRCh38 Chromosome 9, 120443734: 120443734

Expression for Microcephaly 3, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 3, Primary, Autosomal Recessive.

Pathways for Microcephaly 3, Primary, Autosomal Recessive

GO Terms for Microcephaly 3, Primary, Autosomal Recessive

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