MCID: MCR223
MIFTS: 28

Microcephaly 10, Primary, Autosomal Recessive

Categories: Genetic diseases, Neuronal diseases, Bone 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 54 71 13 69
Microcephalic Primordial Dwarfism Due to Znf335 Deficiency 56
Microcephalic Primordial Dwarfism, Walsh Type 56
Primary Autosomal Recessive Microcephaly 10 29
Mcph10 71

Characteristics:

Orphanet epidemiological data:

56
microcephalic primordial dwarfism due to znf335 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

54
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 : 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 microcephalic primordial dwarfism due to znf335 deficiency, and has symptoms including ventriculomegaly, microcephaly and brain atrophy. An important gene associated with Microcephaly 10, Primary, Autosomal Recessive is ZNF335 (Zinc Finger Protein 335). The drugs alemtuzumab and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include cortex, brain and bone.

OMIM : 54
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:

54

Neurologic- Central Nervous System:
spasticity
cerebellar atrophy
delayed myelination
absence of the corpus callosum
gliosis
more
Head And Neck- Head:
micrognathia
microcephaly, severe (-9 s.d.)
low sloping forehead

Head And Neck- Nose:
choanal atresia
prominent nasal bridge

Growth- Weight:
low birth weight

Growth- Height:
low birth length

Head And Neck- Eyes:
cataracts

Growth- Other:
intrauterine growth retardation
poor somatic growth

Skeletal:
arthrogryposis
contractures

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:

56 32 (show all 24)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ventriculomegaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0002119
2 microcephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000252
3 brain atrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0012444
4 small cerebral cortex 56 32 hallmark (90%) Very frequent (99-80%) HP:0002472
5 cortical gyral simplification 56 32 hallmark (90%) Very frequent (99-80%) HP:0009879
6 abnormality of the cerebellum 56 32 hallmark (90%) Very frequent (99-80%) HP:0001317
7 abnormal neuron morphology 56 32 hallmark (90%) Very frequent (99-80%) HP:0012757
8 spasticity 32 HP:0001257
9 cerebral atrophy 32 HP:0002059
10 micrognathia 32 HP:0000347
11 intrauterine growth retardation 32 HP:0001511
12 choanal atresia 32 HP:0000453
13 arthrogryposis multiplex congenita 32 HP:0002804
14 sloping forehead 32 HP:0000340
15 cataract 32 HP:0000518
16 cerebellar atrophy 32 HP:0001272
17 delayed myelination 32 HP:0012448
18 gliosis 32 HP:0002171
19 profound global developmental delay 32 HP:0012736
20 small for gestational age 32 HP:0001518
21 prominent nasal bridge 32 HP:0000426
22 severe global developmental delay 32 HP:0011344
23 abnormality of the cerebrum 56 Very frequent (99-80%)
24 abnormality of the cerebral cortex 56 Very frequent (99-80%)

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


muscle spasticity

Drugs & Therapeutics for Microcephaly 10, Primary, Autosomal Recessive

Drugs for Microcephaly 10, Primary, Autosomal Recessive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 1 216503-57-0
2
Fludarabine Approved Phase 1 21679-14-1, 75607-67-9 30751
3 Antimetabolites Phase 1
4 Antimetabolites, Antineoplastic Phase 1
5 Immunosuppressive Agents Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Use of Rft5-Dga to Deplete Alloreactive Cells for Pts With Fanconi Anemia After Haploidentical SCT Terminated NCT00586274 Phase 1 Fludarabine
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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:

id Genetic test Affiliating Genes
1 Primary Autosomal Recessive Microcephaly 10 29

Anatomical Context for Microcephaly 10, Primary, Autosomal Recessive

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

39
Cortex, Brain, Bone, 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
id 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
id 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
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46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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