MCID: MCR223
MIFTS: 24

Microcephaly 10, Primary, Autosomal Recessive

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental 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 75 13 73
Primary Autosomal Recessive Microcephaly 10 29 6
Mcph10 57 75
Microcephalic Primordial Dwarfism Due to Znf335 Deficiency 59
Microcephaly, Type 10, Primary, Autosomal Recessive 40
Microcephalic Primordial Dwarfism, Walsh Type 59
Diisopropyl Phosphoramidite 44

Characteristics:

Orphanet epidemiological data:

59
microcephalic primordial dwarfism due to znf335 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
death usually by 1 year of age
one consanguineous arab israeli family has been reported (last curated february, 2013)


HPO:

32
microcephaly 10, primary, autosomal recessive:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephaly 10, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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, is also known as primary autosomal recessive microcephaly 10, and has symptoms including muscle spasticity An important gene associated with Microcephaly 10, Primary, Autosomal Recessive is ZNF335 (Zinc Finger Protein 335). Affiliated tissues include cortex, brain and cerebellum, and related phenotypes are brain atrophy and microcephaly

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)

Symptoms & Phenotypes for Microcephaly 10, Primary, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
spasticity
cerebellar atrophy
gliosis
delayed myelination
absence of the corpus callosum
more
Growth Other:
intrauterine growth retardation
poor somatic growth

Head And Neck Eyes:
cataracts

Skeletal:
contractures
arthrogryposis

Growth Height:
low birth length

Head And Neck Head:
micrognathia
microcephaly, severe (-9 s.d.)
low sloping forehead

Head And Neck Nose:
prominent nasal bridge
choanal atresia

Growth Weight:
low birth weight

Muscle Soft Tissue:
increased muscle tone

Head And Neck Ears:
prominent helices


Clinical features from OMIM:

615095

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

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brain atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0012444
2 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
3 ventriculomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002119
4 abnormality of the cerebellum 59 32 hallmark (90%) Very frequent (99-80%) HP:0001317
5 small cerebral cortex 59 32 hallmark (90%) Very frequent (99-80%) HP:0002472
6 cortical gyral simplification 59 32 hallmark (90%) Very frequent (99-80%) HP:0009879
7 abnormal neuron morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0012757
8 spasticity 32 HP:0001257
9 cataract 32 HP:0000518
10 micrognathia 32 HP:0000347
11 severe global developmental delay 32 HP:0011344
12 intrauterine growth retardation 32 HP:0001511
13 arthrogryposis multiplex congenita 32 HP:0002804
14 prominent nasal bridge 32 HP:0000426
15 choanal atresia 32 HP:0000453
16 cerebellar atrophy 32 HP:0001272
17 sloping forehead 32 HP:0000340
18 cerebral atrophy 32 HP:0002059
19 gliosis 32 HP:0002171
20 profound global developmental delay 32 HP:0012736
21 small for gestational age 32 HP:0001518
22 abnormality of the cerebrum 59 Very frequent (99-80%)
23 abnormality of the cerebral cortex 59 Very frequent (99-80%)
24 delayed myelination 32 HP:0012448

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


muscle spasticity

Drugs & Therapeutics for Microcephaly 10, Primary, Autosomal Recessive

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

Cochrane evidence based reviews: diisopropyl phosphoramidite

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:

41
Cortex, Brain, Cerebellum

Publications for Microcephaly 10, Primary, Autosomal Recessive

Variations for Microcephaly 10, Primary, Autosomal Recessive

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

75
# Symbol AA change Variation ID SNP ID
1 ZNF335 p.Arg1111His VAR_069469 rs397514642

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ZNF335 NM_022095.3(ZNF335): c.3332G> A (p.Arg1111His) single nucleotide variant Pathogenic rs397514642 GRCh37 Chromosome 20, 44579092: 44579092
2 ZNF335 NM_022095.3(ZNF335): c.3332G> A (p.Arg1111His) single nucleotide variant Pathogenic rs397514642 GRCh38 Chromosome 20, 45950453: 45950453
3 ZNF335 NM_022095.3(ZNF335): c.2515_2518dupGCCA (p.Thr840Serfs) duplication Likely pathogenic rs797046124 GRCh37 Chromosome 20, 44582512: 44582515
4 ZNF335 NM_022095.3(ZNF335): c.2515_2518dupGCCA (p.Thr840Serfs) duplication Likely pathogenic rs797046124 GRCh38 Chromosome 20, 45953873: 45953876
5 ZNF335 NM_022095.3(ZNF335): c.3787G> T (p.Glu1263Ter) single nucleotide variant Pathogenic rs749190523 GRCh38 Chromosome 20, 45949365: 45949365
6 ZNF335 NM_022095.3(ZNF335): c.3787G> T (p.Glu1263Ter) single nucleotide variant Pathogenic rs749190523 GRCh37 Chromosome 20, 44578004: 44578004
7 ZNF335 NM_022095.3(ZNF335): c.2744_2747delGTGA (p.Ser915Thrfs) deletion Pathogenic rs753460205 GRCh38 Chromosome 20, 45952665: 45952668
8 ZNF335 NM_022095.3(ZNF335): c.2744_2747delGTGA (p.Ser915Thrfs) deletion Pathogenic rs753460205 GRCh37 Chromosome 20, 44581304: 44581307

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

GO Terms for Microcephaly 10, Primary, Autosomal Recessive

Sources for Microcephaly 10, Primary, Autosomal Recessive

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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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