MCPH20
MCID: MCR360
MIFTS: 21

Microcephaly 20, Primary, Autosomal Recessive (MCPH20)

Categories: 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 75 6
Mcph20 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
highly variable severity


Classifications:



Summaries for Microcephaly 20, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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, brain and kidney, and related phenotypes are intellectual disability and blindness

Description from OMIM: 617914

Symptoms & Phenotypes for Microcephaly 20, Primary, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
strabismus
microphthalmia (family a)
optic nerve hypoplasia (family a)
blindness (family a)

Neurologic Central Nervous System:
poor speech
small cerebral cortex
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

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

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 blindness 32 HP:0000618
3 strabismus 32 HP:0000486
4 attention deficit hyperactivity disorder 32 HP:0007018
5 optic nerve hypoplasia 32 HP:0000609
6 microphthalmia 32 HP:0000568
7 renal hypoplasia 32 very rare (1%) HP:0000089
8 delayed gross motor development 32 HP:0002194
9 poor speech 32 HP:0002465
10 small cerebral cortex 32 HP:0002472
11 cortical gyral simplification 32 HP:0009879
12 hyperechogenic kidneys 32 very rare (1%) HP:0004719

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

Anatomical Context for Microcephaly 20, Primary, Autosomal Recessive

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

41
Cortex, Brain, Kidney

Publications for Microcephaly 20, Primary, Autosomal Recessive

Variations for Microcephaly 20, Primary, Autosomal Recessive

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

75
# Symbol AA change Variation ID SNP ID
1 KIF14 p.His849Asp VAR_080627
2 KIF14 p.Gly1221Val VAR_080628

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

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 KIF14 NM_014875.2(KIF14): c.263T> A (p.Leu88Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 200587589: 200587589
2 KIF14 NM_014875.2(KIF14): c.263T> A (p.Leu88Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 200618461: 200618461
3 KIF14 NM_014875.2(KIF14): c.2480_2482delTTG (p.Val827del) deletion Pathogenic GRCh37 Chromosome 1, 200567432: 200567434
4 KIF14 NM_014875.2(KIF14): c.2480_2482delTTG (p.Val827del) deletion Pathogenic GRCh38 Chromosome 1, 200598304: 200598306
5 KIF14 NM_014875.2(KIF14): c.4071G> A (p.Gln1357=) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 200534197: 200534197
6 KIF14 NM_014875.2(KIF14): c.4071G> A (p.Gln1357=) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 200565069: 200565069
7 KIF14 NM_014875.2(KIF14): c.2545C> G (p.His849Asp) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 200598241: 200598241
8 KIF14 NM_014875.2(KIF14): c.2545C> G (p.His849Asp) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 200567369: 200567369
9 KIF14 NM_014875.2(KIF14): c.3662G> T (p.Gly1221Val) single nucleotide variant Pathogenic rs981349334 GRCh37 Chromosome 1, 200534797: 200534797
10 KIF14 NM_014875.2(KIF14): c.3662G> T (p.Gly1221Val) single nucleotide variant Pathogenic rs981349334 GRCh38 Chromosome 1, 200565669: 200565669
11 KIF14 NM_014875.2(KIF14): c.246delT (p.Asn83Ilefs) deletion Pathogenic GRCh37 Chromosome 1, 200587606: 200587606
12 KIF14 NM_014875.2(KIF14): c.246delT (p.Asn83Ilefs) deletion Pathogenic GRCh38 Chromosome 1, 200618478: 200618478
13 KIF14 NM_014875.2(KIF14): c.4432delA (p.Ser1478Valfs) deletion Pathogenic GRCh38 Chromosome 1, 200554603: 200554603
14 KIF14 NM_014875.2(KIF14): c.4432delA (p.Ser1478Valfs) deletion Pathogenic GRCh37 Chromosome 1, 200523731: 200523731

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

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17 ExPASy
19 FMA
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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