MCPH16
MCID: MCR314
MIFTS: 28

Microcephaly 16, Primary, Autosomal Recessive (MCPH16)

Categories: 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 75 29 6
Mcph16 57 12 75
Primary Autosomal Recessive Microcephaly 16 12 15

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
microcephaly 16, primary, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephaly 16, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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 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 brain and 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.

Description from OMIM: 616681

Related Diseases for Microcephaly 16, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 16, Primary, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
telecanthus
glaucoma

Growth Height:
short stature

Head And Neck Mouth:
open mouth

Growth Weight:
low weight

Skeletal Limbs:
knee contractures

Skin Nails Hair Skin:
abnormally pigmented macules

Neurologic Central Nervous System:
seizures
agenesis of the corpus callosum
simplified gyral pattern
spastic quadriplegia
lack of psychomotor development
more
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

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

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 32 HP:0001274
2 ptosis 32 HP:0000508
3 seizures 32 HP:0001250
4 global developmental delay 32 HP:0001263
5 microcephaly 32 HP:0000252
6 short stature 32 HP:0004322
7 spastic tetraplegia 32 HP:0002510
8 micrognathia 32 HP:0000347
9 cryptorchidism 32 HP:0000028
10 telecanthus 32 HP:0000506
11 glaucoma 32 HP:0000501
12 open mouth 32 HP:0000194
13 adducted thumb 32 HP:0001181
14 decreased body weight 32 HP:0004325
15 sloping forehead 32 HP:0000340
16 knee flexion contracture 32 HP:0006380
17 cortical gyral simplification 32 HP:0009879

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:

41
Brain, Cortex

Publications for Microcephaly 16, Primary, Autosomal Recessive

Variations for Microcephaly 16, Primary, Autosomal Recessive

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

75
# Symbol AA change Variation ID SNP ID
1 ANKLE2 p.Leu573Val VAR_076205 rs863225465

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ANKLE2 NM_015114.2(ANKLE2): c.2344C> T (p.Gln782Ter) single nucleotide variant Pathogenic rs201785518 GRCh37 Chromosome 12, 133306404: 133306404
2 ANKLE2 NM_015114.2(ANKLE2): c.2344C> T (p.Gln782Ter) single nucleotide variant Pathogenic rs201785518 GRCh38 Chromosome 12, 132729818: 132729818
3 ANKLE2 NM_015114.2(ANKLE2): c.1717C> G (p.Leu573Val) single nucleotide variant Likely pathogenic rs863225465 GRCh37 Chromosome 12, 133311145: 133311145
4 ANKLE2 NM_015114.2(ANKLE2): c.1717C> G (p.Leu573Val) single nucleotide variant Likely pathogenic rs863225465 GRCh38 Chromosome 12, 132734559: 132734559
5 ANKLE2 NM_015114.2(ANKLE2): c.1060G> A (p.Val354Met) single nucleotide variant Uncertain significance rs117750374 GRCh38 Chromosome 12, 132748002: 132748002
6 ANKLE2 NM_015114.2(ANKLE2): c.1060G> A (p.Val354Met) single nucleotide variant Uncertain significance rs117750374 GRCh37 Chromosome 12, 133324588: 133324588
7 ANKLE2 NM_015114.2(ANKLE2): c.1687G> A (p.Glu563Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 132735419: 132735419
8 ANKLE2 NM_015114.2(ANKLE2): c.1687G> A (p.Glu563Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 133312005: 133312005

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

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

# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 8.96 ANKLE2 CEP63
2 cell division GO:0051301 8.62 ANKLE2 CEP63

Sources for Microcephaly 16, 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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