MCPH20
MCID: MCR360
MIFTS: 24

Microcephaly 20, Primary, Autosomal Recessive (MCPH20)

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

Aliases & Classifications for Microcephaly 20, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 20, Primary, Autosomal Recessive:

Name: Microcephaly 20, Primary, Autosomal Recessive 57 72 29 6
Mcph20 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
highly variable severity


HPO:

31
microcephaly 20, primary, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



Summaries for Microcephaly 20, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 Microcephaly 20, primary, autosomal recessive: A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH20 features include mild to moderate intellectual disability, autistic features, poor speech. Disease severity is highly variable.

MalaCards based summary : Microcephaly 20, Primary, Autosomal Recessive, is also known as mcph20. An important gene associated with Microcephaly 20, Primary, Autosomal Recessive is KIF14 (Kinesin Family Member 14). Affiliated tissues include cortex and brain, and related phenotypes are short stature and renal hypoplasia

More information from OMIM: 617914 PS251200

Related Diseases for Microcephaly 20, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 20, Primary, Autosomal Recessive

Human phenotypes related to Microcephaly 20, Primary, Autosomal Recessive:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 short stature 31 very rare (1%) HP:0004322
2 renal hypoplasia 31 very rare (1%) HP:0000089
3 hyperechogenic kidneys 31 very rare (1%) HP:0004719
4 intellectual disability 31 HP:0001249
5 microcephaly 31 HP:0000252
6 blindness 31 HP:0000618
7 strabismus 31 HP:0000486
8 attention deficit hyperactivity disorder 31 HP:0007018
9 microphthalmia 31 HP:0000568
10 sloping forehead 31 HP:0000340
11 small cerebral cortex 31 HP:0002472
12 delayed gross motor development 31 HP:0002194
13 generalized hypotonia 31 HP:0001290
14 optic nerve hypoplasia 31 HP:0000609
15 poor speech 31 HP:0002465
16 simplified gyral pattern 31 HP:0009879

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
strabismus
microphthalmia (family a)
optic nerve hypoplasia (family a)
blindness (family a)

Neurologic Central Nervous System:
small cerebral cortex
poor speech
simplified gyral pattern
intellectual disability, mild to moderate
delayed gross motor skills

Neurologic Behavioral Psychiatric Manifestations:
autistic features
attention deficit-hyperactivity disorder

Genitourinary Kidneys:
hyperechogenic kidneys (in some patients)
small kidneys (in some patients)
renal impairment (in some patients)

Head And Neck Face:
sloping forehead

Muscle Soft Tissue:
hypotonia

Growth Height:
short stature (in some patients)

Head And Neck Head:
microcephaly (-3.6 to -11 sd)

Clinical features from OMIM®:

617914 (Updated 05-Apr-2021)

Drugs & Therapeutics for Microcephaly 20, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 20, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 20, Primary, Autosomal Recessive

Genetic tests related to Microcephaly 20, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Microcephaly 20, Primary, Autosomal Recessive 29 KIF14

Anatomical Context for Microcephaly 20, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 20, Primary, Autosomal Recessive:

40
Cortex, Brain

Publications for Microcephaly 20, Primary, Autosomal Recessive

Articles related to Microcephaly 20, Primary, Autosomal Recessive:

# Title Authors PMID Year
1
Biallelic variants in KIF14 cause intellectual disability with microcephaly. 57 6
29343805 2018
2
Mutations of KIF14 cause primary microcephaly by impairing cytokinesis. 57 6
28892560 2017
3
Kif14 mutation causes severe brain malformation and hypomyelination. 57
23308235 2013

Variations for Microcephaly 20, Primary, Autosomal Recessive

ClinVar genetic disease variations for Microcephaly 20, Primary, Autosomal Recessive:

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KIF14 NM_014875.3(KIF14):c.2480_2482del (p.Val827del) Deletion Pathogenic 503566 rs1553259539 GRCh37: 1:200567432-200567434
GRCh38: 1:200598304-200598306
2 KIF14 NM_014875.3(KIF14):c.3662G>T (p.Gly1221Val) SNV Pathogenic 503569 rs981349334 GRCh37: 1:200534797-200534797
GRCh38: 1:200565669-200565669
3 KIF14 NM_014875.3(KIF14):c.4071G>A (p.Gln1357=) SNV Pathogenic 503567 rs1553254322 GRCh37: 1:200534197-200534197
GRCh38: 1:200565069-200565069
4 KIF14 NM_014875.3(KIF14):c.246del (p.Asn83fs) Deletion Pathogenic 503570 rs1553264036 GRCh37: 1:200587606-200587606
GRCh38: 1:200618478-200618478
5 KIF14 NM_014875.3(KIF14):c.263T>A (p.Leu88Ter) SNV Pathogenic 503565 rs1553264033 GRCh37: 1:200587589-200587589
GRCh38: 1:200618461-200618461
6 KIF14 NM_014875.3(KIF14):c.2545C>G (p.His849Asp) SNV Pathogenic 503568 rs1553259528 GRCh37: 1:200567369-200567369
GRCh38: 1:200598241-200598241
7 KIF14 NM_014875.3(KIF14):c.4432del (p.Ser1478fs) Deletion Pathogenic 503571 rs1553253022 GRCh37: 1:200523731-200523731
GRCh38: 1:200554603-200554603
8 KIF14 NM_014875.3(KIF14):c.2364+6_2364+8del Microsatellite Pathogenic 1030440 GRCh37: 1:200569170-200569172
GRCh38: 1:200600042-200600044
9 KIF14 NM_014875.3(KIF14):c.14G>T (p.Ser5Ile) SNV Likely pathogenic 978236 GRCh37: 1:200587838-200587838
GRCh38: 1:200618710-200618710
10 KIF14 NM_014875.3(KIF14):c.1375G>A (p.Gly459Arg) SNV Uncertain significance 977144 GRCh37: 1:200583526-200583526
GRCh38: 1:200614398-200614398
11 KIF14 NM_014875.3(KIF14):c.1184C>T (p.Thr395Met) SNV Uncertain significance 715554 rs138621008 GRCh37: 1:200584666-200584666
GRCh38: 1:200615538-200615538
12 KIF14 NM_014875.3(KIF14):c.1570C>G (p.His524Asp) SNV Uncertain significance 1030439 GRCh37: 1:200575911-200575911
GRCh38: 1:200606783-200606783
13 KIF14 NM_014875.3(KIF14):c.4247C>A (p.Ala1416Asp) SNV Uncertain significance 1033714 GRCh37: 1:200528564-200528564
GRCh38: 1:200559436-200559436
14 KIF14 NM_014875.3(KIF14):c.4843G>A (p.Gly1615Ser) SNV Uncertain significance 740813 rs146186348 GRCh37: 1:200522620-200522620
GRCh38: 1:200553492-200553492
15 KIF14 NM_014875.3(KIF14):c.595A>G (p.Thr199Ala) SNV Uncertain significance 1033715 GRCh37: 1:200587257-200587257
GRCh38: 1:200618129-200618129

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 20, Primary, Autosomal Recessive:

72
# Symbol AA change Variation ID SNP ID
1 KIF14 p.His849Asp VAR_080627 rs155325952
2 KIF14 p.Gly1221Val VAR_080628

Expression for Microcephaly 20, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 20, Primary, Autosomal Recessive.

Pathways for Microcephaly 20, Primary, Autosomal Recessive

GO Terms for Microcephaly 20, Primary, Autosomal Recessive

Sources for Microcephaly 20, Primary, Autosomal Recessive

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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