MCPH16
MCID: MCR314
MIFTS: 30

Microcephaly 16, Primary, Autosomal Recessive (MCPH16)

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

Aliases & Classifications for Microcephaly 16, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 16, Primary, Autosomal Recessive:

Name: Microcephaly 16, Primary, Autosomal Recessive 57 72 29 6
Mcph16 57 12 72
Primary Autosomal Recessive Microcephaly 16 12 15

Characteristics:

OMIM®:

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

Miscellaneous:
one patient has been reported (last curated december 2015)


HPO:

31
microcephaly 16, primary, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephaly 16, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 Microcephaly 16, 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.

MalaCards based summary : Microcephaly 16, Primary, Autosomal Recessive, also known as mcph16, is related to microcephaly 10, primary, autosomal recessive and microcephaly 5, primary, autosomal recessive. An important gene associated with Microcephaly 16, Primary, Autosomal Recessive is ANKLE2 (Ankyrin Repeat And LEM Domain Containing 2). Affiliated tissues include cortex, and related phenotypes are agenesis of corpus callosum and ptosis

Disease Ontology : 12 A primary autosomal recessive microcephaly that has material basis in homozygous or compound heterozygous mutation in the ANKLE2 gene on chromosome 12q24.

More information from OMIM: 616681 PS251200

Related Diseases for Microcephaly 16, Primary, Autosomal Recessive

Diseases in the Microcephaly family:

Microcephaly, Autosomal Dominant Microcephaly 1, Primary, Autosomal Recessive
Microcephaly 4, Primary, Autosomal Recessive Microcephaly 3, Primary, Autosomal Recessive
Microcephaly 6, Primary, Autosomal Recessive Microcephaly 5, Primary, Autosomal Recessive
Microcephaly 7, Primary, Autosomal Recessive Microcephaly 8, Primary, Autosomal Recessive
Microcephaly 9, Primary, Autosomal Recessive Microcephaly 10, Primary, Autosomal Recessive
Microcephaly 11, Primary, Autosomal Recessive Microcephaly 13, Primary, Autosomal Recessive
Microcephaly 12, Primary, Autosomal Recessive Microcephaly 14, Primary, Autosomal Recessive
Microcephaly 16, Primary, Autosomal Recessive Microcephaly 17, Primary, Autosomal Recessive
Microcephaly 18, Primary, Autosomal Dominant Microcephaly 19, Primary, Autosomal Recessive
Microcephaly 20, Primary, Autosomal Recessive Microcephaly 21, Primary, Autosomal Recessive
Microcephaly 22, Primary, Autosomal Recessive Microcephaly 23, Primary, Autosomal Recessive
Microcephaly 24, Primary, Autosomal Recessive Microcephaly 25, Primary, Autosomal Recessive
Microcephaly 26, Primary, Autosomal Dominant Microcephaly 27, Primary, Autosomal Dominant
Primary Autosomal Recessive Microcephaly Primary Microcephaly

Diseases related to Microcephaly 16, Primary, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 microcephaly 10, primary, autosomal recessive 9.9 ZNF335 ANKLE2
2 microcephaly 5, primary, autosomal recessive 9.7 ZNF335 RTTN
3 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 9.6 ZNF335 RTTN
4 microcephaly 17, primary, autosomal recessive 9.6 ZNF335 MFSD2A ANKLE2
5 microcephaly 6, primary, autosomal recessive 9.6 ZNF335 RTTN
6 microcephaly 18, primary, autosomal dominant 9.6 ZNF335 MFSD2A ANKLE2
7 seckel syndrome 9.5 RTTN ANKLE2
8 microcephaly 14, primary, autosomal recessive 9.5 ZNF335 RTTN ANKLE2
9 microcephaly 9.2 ZNF335 RTTN MFSD2A ANKLE2
10 microcephaly 13, primary, autosomal recessive 9.2 ZNF335 RTTN MFSD2A ANKLE2
11 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities 8.9 ZNF335 RTTN PGAP2 MFSD2A ANKLE2
12 primary autosomal recessive microcephaly 8.9 ZNF335 RTTN PGAP2 MFSD2A ANKLE2

Graphical network of the top 20 diseases related to Microcephaly 16, Primary, Autosomal Recessive:



Diseases related to Microcephaly 16, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 16, Primary, Autosomal Recessive

Human phenotypes related to Microcephaly 16, Primary, Autosomal Recessive:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 31 HP:0001274
2 ptosis 31 HP:0000508
3 global developmental delay 31 HP:0001263
4 microcephaly 31 HP:0000252
5 short stature 31 HP:0004322
6 spastic tetraplegia 31 HP:0002510
7 cryptorchidism 31 HP:0000028
8 micrognathia 31 HP:0000347
9 glaucoma 31 HP:0000501
10 open mouth 31 HP:0000194
11 telecanthus 31 HP:0000506
12 adducted thumb 31 HP:0001181
13 decreased body weight 31 HP:0004325
14 sloping forehead 31 HP:0000340
15 knee flexion contracture 31 HP:0006380
16 simplified gyral pattern 31 HP:0009879
17 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
simplified gyral pattern
agenesis of the corpus callosum
spastic quadriplegia
lack of psychomotor development
more
Growth Height:
short stature

Head And Neck Mouth:
open mouth

Skeletal Limbs:
knee contractures

Growth Weight:
low weight

Skin Nails Hair Skin:
abnormally pigmented macules

Head And Neck Eyes:
ptosis
glaucoma
telecanthus

Genitourinary External Genitalia Male:
cryptorchidism

Head And Neck Face:
sloping forehead
small jaw

Skeletal Hands:
adducted thumbs

Head And Neck Head:
microcephaly (-9 sd)

Clinical features from OMIM®:

616681 (Updated 05-Apr-2021)

Drugs & Therapeutics for Microcephaly 16, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 16, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 16, Primary, Autosomal Recessive

Genetic tests related to Microcephaly 16, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Microcephaly 16, Primary, Autosomal Recessive 29 ANKLE2

Anatomical Context for Microcephaly 16, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 16, Primary, Autosomal Recessive:

40
Cortex

Publications for Microcephaly 16, Primary, Autosomal Recessive

Articles related to Microcephaly 16, Primary, Autosomal Recessive:

# Title Authors PMID Year
1
Genomic and phenotypic delineation of congenital microcephaly. 57 6
30214071 2019
2
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. 6 57
25259927 2014
3
CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly. 61
27519304 2016

Variations for Microcephaly 16, Primary, Autosomal Recessive

ClinVar genetic disease variations for Microcephaly 16, Primary, Autosomal Recessive:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ANKLE2 NM_015114.3(ANKLE2):c.1717C>G (p.Leu573Val) SNV Pathogenic 218246 rs863225465 GRCh37: 12:133311145-133311145
GRCh38: 12:132734559-132734559
2 ANKLE2 NM_015114.3(ANKLE2):c.601G>T (p.Gly201Trp) SNV Pathogenic 635194 rs1185537869 GRCh37: 12:133331300-133331300
GRCh38: 12:132754714-132754714
3 ANKLE2 NM_015114.3(ANKLE2):c.2344C>T (p.Gln782Ter) SNV Pathogenic 218245 rs201785518 GRCh37: 12:133306404-133306404
GRCh38: 12:132729818-132729818
4 ANKLE2 NM_015114.3(ANKLE2):c.1975C>T (p.Arg659Ter) SNV Pathogenic 1033318 GRCh37: 12:133306773-133306773
GRCh38: 12:132730187-132730187
5 ANKLE2 NM_015114.3(ANKLE2):c.19G>A (p.Ala7Thr) SNV Uncertain significance 806973 rs865818494 GRCh37: 12:133338366-133338366
GRCh38: 12:132761780-132761780
6 ANKLE2 NM_015114.3(ANKLE2):c.2467C>T (p.Arg823Trp) SNV Uncertain significance 1030463 GRCh37: 12:133306281-133306281
GRCh38: 12:132729695-132729695
7 ANKLE2 NM_015114.3(ANKLE2):c.1892-127_1892-65del Deletion Uncertain significance 802911 rs1555235999 GRCh37: 12:133306921-133306983
GRCh38: 12:132730335-132730397
8 ANKLE2 NM_015114.3(ANKLE2):c.1606C>T (p.Arg536Cys) SNV Uncertain significance 978453 GRCh37: 12:133312086-133312086
GRCh38: 12:132735500-132735500
9 ANKLE2 NM_015114.3(ANKLE2):c.1060G>A (p.Val354Met) SNV Uncertain significance 548479 rs117750374 GRCh37: 12:133324588-133324588
GRCh38: 12:132748002-132748002
10 ANKLE2 NM_015114.3(ANKLE2):c.1687G>A (p.Glu563Lys) SNV Uncertain significance 560228 rs1334824087 GRCh37: 12:133312005-133312005
GRCh38: 12:132735419-132735419

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 16, Primary, Autosomal Recessive:

72
# Symbol AA change Variation ID SNP ID
1 ANKLE2 p.Ala109Pro VAR_083606
2 ANKLE2 p.Gly201Trp VAR_083607 rs118553786

Expression for Microcephaly 16, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 16, Primary, Autosomal Recessive.

Pathways for Microcephaly 16, Primary, Autosomal Recessive

GO Terms for Microcephaly 16, Primary, Autosomal Recessive

Cellular components related to Microcephaly 16, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 8.8 PGAP2 MFSD2A ANKLE2

Biological processes related to Microcephaly 16, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 8.62 MFSD2A ZNF335

Sources for Microcephaly 16, 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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