MCPH10
MCID: MCR223
MIFTS: 40

Microcephaly 10, Primary, Autosomal Recessive (MCPH10)

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

Aliases & Classifications for Microcephaly 10, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 10, Primary, Autosomal Recessive:

Name: Microcephaly 10, Primary, Autosomal Recessive 57 72 13 70
Primary Autosomal Recessive Microcephaly 10 12 29 6 15
Mcph10 57 12 72
Microcephalic Primordial Dwarfism Due to Znf335 Deficiency 58
Microcephaly, Type 10, Primary, Autosomal Recessive 39
Microcephalic Primordial Dwarfism, Walsh Type 58

Characteristics:

Orphanet epidemiological data:

58
microcephalic primordial dwarfism due to znf335 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM®:

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

Miscellaneous:
onset at birth


HPO:

31
microcephaly 10, primary, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Microcephaly 10, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 Microcephaly 10, primary, autosomal recessive: A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH10 is characterized by extremely small head size and death usually by 1 year of age. Neuropathologic examination shows severe loss of neurons as well as neuronal loss of polarity and abnormal dendritic maturation.

MalaCards based summary : Microcephaly 10, Primary, Autosomal Recessive, also known as primary autosomal recessive microcephaly 10, is related to microcephaly and primary autosomal recessive microcephaly, and has symptoms including muscle spasticity An important gene associated with Microcephaly 10, Primary, Autosomal Recessive is ZNF335 (Zinc Finger Protein 335), and among its related pathways/superpathways are Cell Cycle, Mitotic and Organelle biogenesis and maintenance. Affiliated tissues include cortex, brain and cerebellum, and related phenotypes are microcephaly and ventriculomegaly

Disease Ontology : 12 A primary autosomal recessive microcephaly that has material basis in homozygous or compound heterozygous mutation in the ZNF335 gene on chromosome 20q13.

OMIM® : 57 Primary microcephaly-10 (MCPH10) is an autosomal recessive disorder characterized by extremely small head size (-9 SD) at birth and death usually by 1 year of age. Neuropathologic examination shows severe loss of neurons as well as neuronal loss of polarity and abnormal dendritic maturation (summary by Yang et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200). (615095) (Updated 05-Apr-2021)

Related Diseases for Microcephaly 10, 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 10, Primary, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 microcephaly 28.0 ZNF335 WDR62 PHC1 CEP152 CEP135 CENPJ
2 primary autosomal recessive microcephaly 27.7 ZNF335 WDR62 PHC1 MIR4528 CEP152 CEP135
3 microcephaly 16, primary, autosomal recessive 10.1 ZNF335 ANKLE2
4 seckel syndrome 2 9.7 CEP152 CENPJ
5 microcephaly 1, primary, autosomal recessive 9.7 CEP152 CENPJ
6 seckel syndrome 1 9.7 CEP152 CENPJ
7 band heterotopia 9.7 WDR62 CENPJ
8 seckel syndrome 5 9.7 CEP152 CENPJ
9 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities 9.7 ZNF335 CEP152 ANKLE2
10 seckel syndrome 4 9.6 CEP152 CENPJ
11 microcephalic osteodysplastic primordial dwarfism, type ii 9.5 CEP152 CEP135 CENPJ
12 microcephaly 13, primary, autosomal recessive 9.3 ZNF335 WDR62 CEP152 ANKLE2
13 joubert syndrome 1 9.2 CEP152 CEP135 CENPJ
14 isolated growth hormone deficiency, type ia 9.2 WDR62 CEP152 CEP135 CENPJ
15 isolated growth hormone deficiency 9.2 WDR62 CEP152 CEP135 CENPJ
16 physical disorder 9.2 WDR62 CEP152 CEP135 CENPJ
17 microcephaly 18, primary, autosomal dominant 9.2 ZNF335 CEP152 CEP135 CENPJ ANKLE2
18 microcephaly 14, primary, autosomal recessive 9.1 ZNF335 WDR62 CEP152 CENPJ ANKLE2
19 microcephaly 17, primary, autosomal recessive 9.1 ZNF335 WDR62 CEP152 CENPJ ANKLE2
20 microcephaly 8, primary, autosomal recessive 9.0 WDR62 MIR4528 CEP152 CEP135 CENPJ
21 microcephaly 9, primary, autosomal recessive 9.0 WDR62 MIR4528 CEP152 CEP135 CENPJ
22 microcephaly 3, primary, autosomal recessive 9.0 WDR62 MIR4528 CEP152 CEP135 CENPJ
23 microcephaly 7, primary, autosomal recessive 9.0 WDR62 MIR4528 CEP152 CEP135 CENPJ
24 congenital nervous system abnormality 9.0 ZNF335 WDR62 CEP152 CEP135 CENPJ
25 microcephaly 12, primary, autosomal recessive 9.0 WDR62 PHC1 CEP152 CEP135 CENPJ
26 primary microcephaly 8.9 WDR62 PHC1 CEP152 CEP135 CENPJ
27 microcephaly 6, primary, autosomal recessive 8.9 ZNF335 WDR62 MIR4528 CEP152 CEP135 CENPJ
28 microcephaly 5, primary, autosomal recessive 8.8 ZNF335 WDR62 PHC1 CEP152 CEP135 CENPJ
29 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 8.8 ZNF335 WDR62 PHC1 CEP152 CEP135 CENPJ
30 seckel syndrome 8.7 WDR62 PHC1 CEP152 CEP135 CENPJ ANKLE2
31 microcephaly 11, primary, autosomal recessive 8.6 ZNF335 WDR62 PHC1 MIR4528 CEP152 CEP135
32 microcephaly 4, primary, autosomal recessive 8.6 ZNF335 WDR62 PHC1 MIR4528 CEP152 CEP135

Graphical network of the top 20 diseases related to Microcephaly 10, Primary, Autosomal Recessive:



Diseases related to Microcephaly 10, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 10, Primary, Autosomal Recessive

Human phenotypes related to Microcephaly 10, Primary, Autosomal Recessive:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
2 ventriculomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002119
3 abnormal cerebellum morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001317
4 small cerebral cortex 58 31 hallmark (90%) Very frequent (99-80%) HP:0002472
5 brain atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0012444
6 abnormal neuron morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0012757
7 simplified gyral pattern 58 31 hallmark (90%) Very frequent (99-80%) HP:0009879
8 spasticity 31 HP:0001257
9 cataract 31 HP:0000518
10 intrauterine growth retardation 31 HP:0001511
11 micrognathia 31 HP:0000347
12 choanal atresia 31 HP:0000453
13 prominent nasal bridge 31 HP:0000426
14 severe global developmental delay 31 HP:0011344
15 arthrogryposis multiplex congenita 31 HP:0002804
16 profound global developmental delay 31 HP:0012736
17 sloping forehead 31 HP:0000340
18 cerebellar atrophy 31 HP:0001272
19 cerebral atrophy 31 HP:0002059
20 small for gestational age 31 HP:0001518
21 cns hypomyelination 31 HP:0003429
22 abnormality of the cerebral cortex 58 Very frequent (99-80%)
23 delayed myelination 31 HP:0012448
24 gliosis 31 HP:0002171
25 abnormal cerebral morphology 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
spasticity
cerebellar atrophy
delayed myelination
gliosis
hypomyelination
more
Head And Neck Head:
micrognathia
microcephaly, severe, congenital or acquired (-9 s.d.)
low sloping forehead

Head And Neck Eyes:
cataracts

Skeletal:
contractures
arthrogryposis

Growth Height:
low birth length

Growth Other:
intrauterine growth retardation
poor somatic growth
normal growth (in some patients)

Head And Neck Nose:
choanal atresia
prominent nasal bridge

Growth Weight:
low birth weight

Muscle Soft Tissue:
increased muscle tone

Head And Neck Ears:
prominent helices

Clinical features from OMIM®:

615095 (Updated 05-Apr-2021)

UMLS symptoms related to Microcephaly 10, Primary, Autosomal Recessive:


muscle spasticity

MGI Mouse Phenotypes related to Microcephaly 10, Primary, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.02 ANKLE2 CENPJ CEP135 PHC1 WDR62

Drugs & Therapeutics for Microcephaly 10, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 10, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 10, Primary, Autosomal Recessive

Genetic tests related to Microcephaly 10, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Primary Autosomal Recessive Microcephaly 10 29 ZNF335

Anatomical Context for Microcephaly 10, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 10, Primary, Autosomal Recessive:

40
Cortex, Brain, Cerebellum

Publications for Microcephaly 10, Primary, Autosomal Recessive

Articles related to Microcephaly 10, Primary, Autosomal Recessive:

# Title Authors PMID Year
1
Expanding the clinical spectrum of biallelic ZNF335 variants. 57 6
29652087 2018
2
Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report. 6 57
27540107 2016
3
Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation. 6 57
23178126 2012
4
Lessons learned from additional research analyses of unsolved clinical exome cases. 6
28327206 2017
5
Anaesthesia and orphan disease: primary autosomal recessive microcephaly-10 caused by a mutation in the ZNF335 gene. 61
26479514 2016

Variations for Microcephaly 10, Primary, Autosomal Recessive

ClinVar genetic disease variations for Microcephaly 10, Primary, Autosomal Recessive:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZNF335 NM_022095.4(ZNF335):c.3332G>A (p.Arg1111His) SNV Pathogenic 40116 rs397514642 GRCh37: 20:44579092-44579092
GRCh38: 20:45950453-45950453
2 ZNF335 NM_022095.4(ZNF335):c.3787G>T (p.Glu1263Ter) SNV Pathogenic 375392 rs749190523 GRCh37: 20:44578004-44578004
GRCh38: 20:45949365-45949365
3 ZNF335 NM_022095.4(ZNF335):c.1399T>C (p.Cys467Arg) SNV Pathogenic 619006 rs1568822376 GRCh37: 20:44592246-44592246
GRCh38: 20:45963607-45963607
4 ZNF335 NM_022095.4(ZNF335):c.1505A>G (p.Tyr502Cys) SNV Pathogenic 619007 rs753888773 GRCh37: 20:44592140-44592140
GRCh38: 20:45963501-45963501
5 ZNF335 NM_022095.4(ZNF335):c.2740_2743GTGA[1] (p.Ser915fs) Microsatellite Pathogenic 375393 rs753460205 GRCh37: 20:44581304-44581307
GRCh38: 20:45952665-45952668
6 ZNF335 NM_022095.4(ZNF335):c.2168_2170TCT[1] (p.Phe724del) Microsatellite Pathogenic 212644 rs773283542 GRCh37: 20:44587920-44587922
GRCh38: 20:45959281-45959283
7 ZNF335 NM_022095.4(ZNF335):c.3998A>G (p.Glu1333Gly) SNV Pathogenic 453188 rs200635860 GRCh37: 20:44577623-44577623
GRCh38: 20:45948984-45948984
8 ZNF335 NM_022095.4(ZNF335):c.3346G>A (p.Gly1116Arg) SNV Pathogenic 998091 rs780393773 GRCh37: 20:44578999-44578999
GRCh38: 20:45950360-45950360
9 ZNF335 NM_022095.4(ZNF335):c.3291_3294del (p.His1097fs) Microsatellite Pathogenic 1031330 GRCh37: 20:44579130-44579133
GRCh38: 20:45950491-45950494
10 ZNF335 NM_022095.4(ZNF335):c.991C>T (p.Arg331Ter) SNV Pathogenic 1031331 GRCh37: 20:44594378-44594378
GRCh38: 20:45965739-45965739
11 ZNF335 NM_022095.4(ZNF335):c.2515_2518dup (p.Thr840fs) Duplication Likely pathogenic 212646 rs797046124 GRCh37: 20:44582511-44582512
GRCh38: 20:45953872-45953873
12 ZNF335 NM_022095.4(ZNF335):c.3158C>T (p.Pro1053Leu) SNV Likely pathogenic 800946 rs768092083 GRCh37: 20:44580817-44580817
GRCh38: 20:45952178-45952178
13 ZNF335 NM_022095.4(ZNF335):c.1856G>A (p.Arg619His) SNV Uncertain significance 816878 rs555774487 GRCh37: 20:44589091-44589091
GRCh38: 20:45960452-45960452
14 ZNF335 NM_022095.4(ZNF335):c.3589C>T (p.Gln1197Ter) SNV Uncertain significance 816879 rs1600517442 GRCh37: 20:44578607-44578607
GRCh38: 20:45949968-45949968
15 ZNF335 NM_022095.4(ZNF335):c.1665+61G>A SNV Uncertain significance 983114 GRCh37: 20:44589442-44589442
GRCh38: 20:45960803-45960803
16 ZNF335 NM_022095.4(ZNF335):c.235C>T (p.Pro79Ser) SNV Uncertain significance 638420 rs768996558 GRCh37: 20:44598297-44598297
GRCh38: 20:45969658-45969658
17 ZNF335 NM_022095.4(ZNF335):c.715_717GTG[3] (p.Val242del) Microsatellite Uncertain significance 561147 rs759141702 GRCh37: 20:44596461-44596463
GRCh38: 20:45967822-45967824
18 ZNF335 NM_022095.4(ZNF335):c.2891G>A (p.Cys964Tyr) SNV Uncertain significance 1029842 GRCh37: 20:44581084-44581084
GRCh38: 20:45952445-45952445

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 10, Primary, Autosomal Recessive:

72
# Symbol AA change Variation ID SNP ID
1 ZNF335 p.Arg1111His VAR_069469 rs397514642

Expression for Microcephaly 10, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 10, Primary, Autosomal Recessive.

Pathways for Microcephaly 10, Primary, Autosomal Recessive

Pathways related to Microcephaly 10, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.42 CEP152 CEP135 CENPJ ANKLE2
2
Show member pathways
11.53 CEP152 CEP135 CENPJ

GO Terms for Microcephaly 10, Primary, Autosomal Recessive

Cellular components related to Microcephaly 10, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.56 WDR62 CEP152 CEP135 CENPJ
2 microtubule organizing center GO:0005815 9.33 WDR62 CEP152 CENPJ
3 centrosome GO:0005813 9.26 WDR62 CEP152 CEP135 CENPJ
4 centriole GO:0005814 8.92 WDR62 CEP152 CEP135 CENPJ

Biological processes related to Microcephaly 10, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G2/M transition of mitotic cell cycle GO:0000086 9.5 CEP152 CEP135 CENPJ
2 ciliary basal body-plasma membrane docking GO:0097711 9.43 CEP152 CEP135 CENPJ
3 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.33 CEP152 CEP135 CENPJ
4 positive regulation of establishment of protein localization GO:1904951 8.96 CEP135 CENPJ
5 centriole replication GO:0007099 8.92 WDR62 CEP152 CEP135 CENPJ

Sources for Microcephaly 10, 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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