MCID: MCR239
MIFTS: 28

Microcephaly 5, Primary, Autosomal Recessive

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

Aliases & Classifications for Microcephaly 5, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 5, Primary, Autosomal Recessive:

Name: Microcephaly 5, Primary, Autosomal Recessive 57 75 13
Primary Autosomal Recessive Microcephaly 5 29 6
Mcph5 57 75
Microcephaly Primary Autosomal Recessive 5 with Simplified Gyral Pattern 75
Microcephaly, Primary Autosomal Recessive, 5 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
some patients may show mild decrease in head circumference over time


HPO:

32
microcephaly 5, primary, autosomal recessive:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephaly 5, Primary, Autosomal Recessive

OMIM : 57 Autosomal recessive primary microcephaly-5 (MCPH5) is characterized by decreased occipitofrontal circumference (OFC), usually less than 3 standard deviations (SD) of the mean, present at birth and associated with mental retardation and speech delay. Other features may include short stature or mild seizures. MCPH5 is associated with a simplification of the cerebral cortical gyral pattern in some cases, which is considered within the phenotypic spectrum of primary microcephaly (review by Woods et al., 2005; Saadi et al., 2009; Passemard et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly (MCPH), see MCPH1 (251200). (608716)

MalaCards based summary : Microcephaly 5, Primary, Autosomal Recessive, also known as primary autosomal recessive microcephaly 5, is related to microcephaly. An important gene associated with Microcephaly 5, Primary, Autosomal Recessive is ASPM (Abnormal Spindle Microtubule Assembly). Affiliated tissues include cortex, brain and eye, and related phenotypes are agenesis of corpus callosum and intellectual disability

UniProtKB/Swiss-Prot : 75 Microcephaly 5, 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.

Related Diseases for Microcephaly 5, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 5, Primary, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
attention deficit

Head And Neck Eyes:
prominent eyes
arched eyebrows

Head And Neck Ears:
congenital hearing loss (1 family)

Head And Neck Face:
sloping forehead
bitemporal narrowing

Neurologic Central Nervous System:
small cerebral cortex
enlarged ventricles
delayed motor development
hypoplastic corpus callosum
seizures (less common)
more
Head And Neck Head:
microcephaly (head circumference 3-11 sd below mean)


Clinical features from OMIM:

608716

Human phenotypes related to Microcephaly 5, Primary, Autosomal Recessive:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 32 HP:0001274
2 intellectual disability 32 HP:0001249
3 seizures 32 occasional (7.5%) HP:0001250
4 hearing impairment 32 occasional (7.5%) HP:0000365
5 delayed speech and language development 32 HP:0000750
6 microcephaly 32 HP:0000252
7 short stature 32 HP:0004322
8 attention deficit hyperactivity disorder 32 HP:0007018
9 ventriculomegaly 32 HP:0002119
10 cerebellar hypoplasia 32 occasional (7.5%) HP:0001321
11 highly arched eyebrow 32 HP:0002553
12 proptosis 32 HP:0000520
13 sloping forehead 32 HP:0000340
14 motor delay 32 HP:0001270
15 hypoplasia of the corpus callosum 32 HP:0002079
16 cortical dysplasia 32 occasional (7.5%) HP:0002539
17 narrow forehead 32 HP:0000341
18 small cerebral cortex 32 HP:0002472
19 cortical gyral simplification 32 HP:0009879

MGI Mouse Phenotypes related to Microcephaly 5, Primary, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 8.62 ASPM TINF2

Drugs & Therapeutics for Microcephaly 5, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 5, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 5, Primary, Autosomal Recessive

Genetic tests related to Microcephaly 5, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Primary Autosomal Recessive Microcephaly 5 29 ASPM

Anatomical Context for Microcephaly 5, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 5, Primary, Autosomal Recessive:

41
Cortex, Brain, Eye, Pons

Publications for Microcephaly 5, Primary, Autosomal Recessive

Articles related to Microcephaly 5, Primary, Autosomal Recessive:

# Title Authors Year
1
Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes microcephaly 5, primary, autosomal recessive. ( 29375817 )
2017

Variations for Microcephaly 5, Primary, Autosomal Recessive

ClinVar genetic disease variations for Microcephaly 5, Primary, Autosomal Recessive:

6
(show top 50) (show all 427)
# Gene Variation Type Significance SNP ID Assembly Location
1 ASPM NM_018136.4(ASPM): c.719_720delCT (p.Ser240Cysfs) deletion Pathogenic rs199422135 GRCh37 Chromosome 1, 197112662: 197112663
2 ASPM NM_018136.4(ASPM): c.719_720delCT (p.Ser240Cysfs) deletion Pathogenic rs199422135 GRCh38 Chromosome 1, 197143532: 197143533
3 ASPM NM_018136.4(ASPM): c.7761T> G (p.Tyr2587Ter) single nucleotide variant Pathogenic rs189678019 GRCh37 Chromosome 1, 197070620: 197070620
4 ASPM NM_018136.4(ASPM): c.7761T> G (p.Tyr2587Ter) single nucleotide variant Pathogenic rs189678019 GRCh38 Chromosome 1, 197101490: 197101490
5 ASPM NM_018136.4(ASPM): c.9159delA (p.Lys3053Asnfs) deletion Pathogenic rs199422184 GRCh37 Chromosome 1, 197062317: 197062317
6 ASPM NM_018136.4(ASPM): c.9159delA (p.Lys3053Asnfs) deletion Pathogenic rs199422184 GRCh38 Chromosome 1, 197093187: 197093187
7 ASPM NM_018136.4(ASPM): c.9178C> T (p.Gln3060Ter) single nucleotide variant Pathogenic rs137852994 GRCh37 Chromosome 1, 197062298: 197062298
8 ASPM NM_018136.4(ASPM): c.9178C> T (p.Gln3060Ter) single nucleotide variant Pathogenic rs137852994 GRCh38 Chromosome 1, 197093168: 197093168
9 ASPM NM_018136.4(ASPM): c.3978G> A (p.Trp1326Ter) single nucleotide variant Pathogenic rs137852995 GRCh37 Chromosome 1, 197087006: 197087006
10 ASPM NM_018136.4(ASPM): c.3978G> A (p.Trp1326Ter) single nucleotide variant Pathogenic rs137852995 GRCh38 Chromosome 1, 197117876: 197117876
11 ASPM NM_018136.4(ASPM): c.349C> T (p.Arg117Ter) single nucleotide variant Pathogenic rs137852996 GRCh37 Chromosome 1, 197113179: 197113179
12 ASPM NM_018136.4(ASPM): c.349C> T (p.Arg117Ter) single nucleotide variant Pathogenic rs137852996 GRCh38 Chromosome 1, 197144049: 197144049
13 ASPM NM_018136.4(ASPM): c.6189T> G (p.Tyr2063Ter) single nucleotide variant Pathogenic rs137852997 GRCh37 Chromosome 1, 197072192: 197072192
14 ASPM NM_018136.4(ASPM): c.6189T> G (p.Tyr2063Ter) single nucleotide variant Pathogenic rs137852997 GRCh38 Chromosome 1, 197103062: 197103062
15 ASPM NM_018136.4(ASPM): c.4195dupA (p.Thr1399Asnfs) duplication Pathogenic rs199422163 GRCh37 Chromosome 1, 197074186: 197074186
16 ASPM NM_018136.4(ASPM): c.4195dupA (p.Thr1399Asnfs) duplication Pathogenic rs199422163 GRCh38 Chromosome 1, 197105056: 197105056
17 ASPM NM_018136.4(ASPM): c.2389C> T (p.Arg797Ter) single nucleotide variant Pathogenic rs145489194 GRCh37 Chromosome 1, 197102510: 197102510
18 ASPM NM_018136.4(ASPM): c.2389C> T (p.Arg797Ter) single nucleotide variant Pathogenic rs145489194 GRCh38 Chromosome 1, 197133380: 197133380
19 ASPM ASPM, 2-BP DEL, 7781AG deletion Pathogenic
20 ASPM NM_018136.4(ASPM): c.1590delA (p.Val531Terfs) deletion Pathogenic rs199422143 GRCh37 Chromosome 1, 197111792: 197111792
21 ASPM NM_018136.4(ASPM): c.1002delA (p.Val335Terfs) deletion Pathogenic rs199422136 GRCh37 Chromosome 1, 197112380: 197112380
22 ASPM NM_018136.4(ASPM): c.1002delA (p.Val335Terfs) deletion Pathogenic rs199422136 GRCh38 Chromosome 1, 197143250: 197143250
23 ASPM NM_018136.4(ASPM): c.10059C> A (p.Tyr3353Ter) single nucleotide variant Pathogenic rs199422201 GRCh37 Chromosome 1, 197057488: 197057488
24 ASPM NM_018136.4(ASPM): c.10059C> A (p.Tyr3353Ter) single nucleotide variant Pathogenic rs199422201 GRCh38 Chromosome 1, 197088358: 197088358
25 ASPM NM_018136.4(ASPM): c.1179delT (p.Asn394Ilefs) deletion Pathogenic rs199422138 GRCh37 Chromosome 1, 197112203: 197112203
26 ASPM NM_018136.4(ASPM): c.1179delT (p.Asn394Ilefs) deletion Pathogenic rs199422138 GRCh38 Chromosome 1, 197143073: 197143073
27 ASPM NM_018136.4(ASPM): c.1260_1266delTCAAGTC (p.Gln421Hisfs) deletion Pathogenic rs199422139 GRCh37 Chromosome 1, 197112116: 197112122
28 ASPM NM_018136.4(ASPM): c.1260_1266delTCAAGTC (p.Gln421Hisfs) deletion Pathogenic rs199422139 GRCh38 Chromosome 1, 197142986: 197142992
29 ASPM NM_018136.4(ASPM): c.1366G> T (p.Glu456Ter) single nucleotide variant Pathogenic rs199422141 GRCh37 Chromosome 1, 197112016: 197112016
30 ASPM NM_018136.4(ASPM): c.1366G> T (p.Glu456Ter) single nucleotide variant Pathogenic rs199422141 GRCh38 Chromosome 1, 197142886: 197142886
31 ASPM NM_018136.4(ASPM): c.1406_1413delATCCTAAA (p.Asn469Ilefs) deletion Pathogenic rs199422142 GRCh37 Chromosome 1, 197111969: 197111976
32 ASPM NM_018136.4(ASPM): c.1406_1413delATCCTAAA (p.Asn469Ilefs) deletion Pathogenic rs199422142 GRCh38 Chromosome 1, 197142839: 197142846
33 ASPM NM_018136.4(ASPM): c.1590delA (p.Val531Terfs) deletion Pathogenic rs199422143 GRCh38 Chromosome 1, 197142662: 197142662
34 ASPM NM_018136.4(ASPM): c.1631_1635delATCTT (p.Tyr544Serfs) deletion Pathogenic rs199422144 GRCh37 Chromosome 1, 197111747: 197111751
35 ASPM NM_018136.4(ASPM): c.1631_1635delATCTT (p.Tyr544Serfs) deletion Pathogenic rs199422144 GRCh38 Chromosome 1, 197142617: 197142621
36 ASPM NM_018136.4(ASPM): c.1959_1962delCAAA (p.Asn653Lysfs) deletion Pathogenic rs199422147 GRCh37 Chromosome 1, 197108961: 197108964
37 ASPM NM_018136.4(ASPM): c.1959_1962delCAAA (p.Asn653Lysfs) deletion Pathogenic rs199422147 GRCh38 Chromosome 1, 197139831: 197139834
38 ASPM NM_018136.4(ASPM): c.1990C> T (p.Gln664Ter) single nucleotide variant Pathogenic rs199422148 GRCh37 Chromosome 1, 197108933: 197108933
39 ASPM NM_018136.4(ASPM): c.1990C> T (p.Gln664Ter) single nucleotide variant Pathogenic rs199422148 GRCh38 Chromosome 1, 197139803: 197139803
40 ASPM NM_018136.4(ASPM): c.2761-25A> G single nucleotide variant Pathogenic rs199422149 GRCh37 Chromosome 1, 197097820: 197097820
41 ASPM NM_018136.4(ASPM): c.2761-25A> G single nucleotide variant Pathogenic rs199422149 GRCh38 Chromosome 1, 197128690: 197128690
42 ASPM NM_018136.4(ASPM): c.2936+5G> T single nucleotide variant Pathogenic rs199422150 GRCh37 Chromosome 1, 197097615: 197097615
43 ASPM NM_018136.4(ASPM): c.2936+5G> T single nucleotide variant Pathogenic rs199422150 GRCh38 Chromosome 1, 197128485: 197128485
44 ASPM NM_018136.4(ASPM): c.2938C> T (p.Arg980Ter) single nucleotide variant Pathogenic rs199422151 GRCh37 Chromosome 1, 197094320: 197094320
45 ASPM NM_018136.4(ASPM): c.2938C> T (p.Arg980Ter) single nucleotide variant Pathogenic rs199422151 GRCh38 Chromosome 1, 197125190: 197125190
46 ASPM NM_018136.4(ASPM): c.2967G> A (p.Trp989Ter) single nucleotide variant Pathogenic rs199422152 GRCh37 Chromosome 1, 197094291: 197094291
47 ASPM NM_018136.4(ASPM): c.2967G> A (p.Trp989Ter) single nucleotide variant Pathogenic rs199422152 GRCh38 Chromosome 1, 197125161: 197125161
48 ASPM NM_018136.4(ASPM): c.3055C> T (p.Arg1019Ter) single nucleotide variant Pathogenic rs199422153 GRCh37 Chromosome 1, 197094203: 197094203
49 ASPM NM_018136.4(ASPM): c.3055C> T (p.Arg1019Ter) single nucleotide variant Pathogenic rs199422153 GRCh38 Chromosome 1, 197125073: 197125073
50 ASPM NM_018136.4(ASPM): c.3082G> A (p.Gly1028Arg) single nucleotide variant Pathogenic rs199422154 GRCh37 Chromosome 1, 197094176: 197094176

Expression for Microcephaly 5, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 5, Primary, Autosomal Recessive.

Pathways for Microcephaly 5, Primary, Autosomal Recessive

GO Terms for Microcephaly 5, Primary, Autosomal Recessive

Sources for Microcephaly 5, Primary, Autosomal Recessive

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