MCID: MCR360
MIFTS: 15

Microcephaly 20, Primary, Autosomal Recessive

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Mental 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 6
Mcph20 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
highly variable severity


Classifications:



External Ids:

OMIM 57 617914

Summaries for Microcephaly 20, Primary, Autosomal Recessive

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 kidney and cortex.

Description from OMIM: 617914

Symptoms & Phenotypes for Microcephaly 20, Primary, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature (in some patients)

Head And Neck Face:
sloping forehead

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

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

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

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

Muscle Soft Tissue:
hypotonia

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


Clinical features from OMIM:

617914

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
Kidney, Cortex

Publications for Microcephaly 20, Primary, Autosomal Recessive

Variations for Microcephaly 20, Primary, Autosomal Recessive

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 GRCh37 Chromosome 1, 200523731: 200523731
14 KIF14 NM_014875.2(KIF14): c.4432delA (p.Ser1478Valfs) deletion Pathogenic GRCh38 Chromosome 1, 200554603: 200554603

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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