MCID: MCR223
MIFTS: 24

Microcephaly 10, Primary, Autosomal Recessive

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

Aliases & Classifications for Microcephaly 10, Primary, Autosomal Recessive

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

Name: Microcephaly 10, Primary, Autosomal Recessive 53 71 13 69
Mcph10 53 71
Microcephalic Primordial Dwarfism Due to Znf335 Deficiency 55
Microcephalic Primordial Dwarfism, Walsh Type 55
Primary Autosomal Recessive Microcephaly 10 28

Characteristics:

Orphanet epidemiological data:

55
microcephalic primordial dwarfism due to znf335 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

53
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:

31
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 : 71 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 mcph10, and has symptoms including brain atrophy, microcephaly and ventriculomegaly. An important gene associated with Microcephaly 10, Primary, Autosomal Recessive is ZNF335 (Zinc Finger Protein 335). Affiliated tissues include cortex, brain and cerebellum.

OMIM : 53 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:

53
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:

55 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brain atrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0012444
2 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
3 ventriculomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0002119
4 abnormality of the cerebellum 55 31 hallmark (90%) Very frequent (99-80%) HP:0001317
5 small cerebral cortex 55 31 hallmark (90%) Very frequent (99-80%) HP:0002472
6 cortical gyral simplification 55 31 hallmark (90%) Very frequent (99-80%) HP:0009879
7 abnormal neuron morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0012757
8 spasticity 31 HP:0001257
9 cataract 31 HP:0000518
10 micrognathia 31 HP:0000347
11 severe global developmental delay 31 HP:0011344
12 intrauterine growth retardation 31 HP:0001511
13 arthrogryposis multiplex congenita 31 HP:0002804
14 prominent nasal bridge 31 HP:0000426
15 choanal atresia 31 HP:0000453
16 cerebellar atrophy 31 HP:0001272
17 sloping forehead 31 HP:0000340
18 cerebral atrophy 31 HP:0002059
19 gliosis 31 HP:0002171
20 profound global developmental delay 31 HP:0012736
21 small for gestational age 31 HP:0001518
22 abnormality of the cerebrum 55 Very frequent (99-80%)
23 abnormality of the cerebral cortex 55 Very frequent (99-80%)
24 delayed myelination 31 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

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 28 ZNF335

Anatomical Context for Microcephaly 10, Primary, Autosomal Recessive

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

38
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:

71
# 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.2515_2518dupGCCA (p.Thr840Serfs) duplication Likely pathogenic rs797046124 GRCh37 Chromosome 20, 44582512: 44582515
3 ZNF335 NM_022095.3(ZNF335): c.3787G> T (p.Glu1263Ter) single nucleotide variant Pathogenic rs749190523 GRCh38 Chromosome 20, 45949365: 45949365
4 ZNF335 NM_022095.3(ZNF335): c.2744_2747delGTGA (p.Ser915Thrfs) deletion Pathogenic rs753460205 GRCh38 Chromosome 20, 45952665: 45952668

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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7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
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42 MESH via Orphanet
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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