MOPD2
MCID: MCR258
MIFTS: 55

Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii (MOPD2)

Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

MalaCards integrated aliases for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii:

Name: Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 57 36 13
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii 12 43 58 29 6 15
Majewski Osteodysplastic Primordial Dwarfism Type Ii 12 20 43 58
Mopd2 57 43 72
Osteodysplastic Primordial Dwarfism Type Ii 12 43
Osteodysplastic Primordial Dwarfism Type 2 20 72
Mopd Ii 57 20
Microcephalic Osteodysplastic Primordial Dwarfism with Tooth Abnormalities 20
Dwarfism, Primordial, Osteodysplastic, Microcephalic Type Ii 39
Microcephalic Osteodysplastic Primordial Dwarfism Type 2 20
Microcephalic Osteodysplastic Primordial Dwarfism 2 72
Osteodysplastic Primordial Dwarfism, Type Ii 57
Mopd Type Ii 58
Mopd 2 20
Mopdii 43

Characteristics:

Orphanet epidemiological data:

58
microcephalic osteodysplastic primordial dwarfism type ii
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adult;

OMIM®:

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


HPO:

31
microcephalic osteodysplastic primordial dwarfism, type ii:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

MedlinePlus Genetics : 43 Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a condition characterized by short stature (dwarfism) with other skeletal abnormalities (osteodysplasia) and an unusually small head size (microcephaly). The growth problems in MOPDII are primordial, meaning they begin before birth, with affected individuals showing slow prenatal growth (intrauterine growth retardation). After birth, affected individuals continue to grow at a very slow rate. The final adult height of people with this condition ranges from 20 inches to 40 inches. Other skeletal abnormalities in MOPDII include abnormal development of the hip joints (hip dysplasia), thinning of the bones in the arms and legs, an abnormal side-to-side curvature of the spine (scoliosis), and shortened wrist bones. In people with MOPDII head growth slows over time; affected individuals have an adult brain size comparable to that of a 3-month-old infant. However, intellectual development is typically normal.People with this condition have a high-pitched, nasal voice and some have a narrowing of the voicebox (subglottic stenosis). Facial features characteristic of MOPDII include a prominent nose, full cheeks, a long midface, and a small jaw. Other signs and symptoms seen in some people with MOPDII include small teeth (microdontia) and farsightedness. Over time, affected individuals may develop areas of abnormally light or dark skin coloring (pigmentation).Many individuals with MOPDII have blood vessel abnormalities. For example, some affected individuals develop a bulge in one of the blood vessels at the center of the brain (intracranial aneurysm). These aneurysms are dangerous because they can burst, causing bleeding within the brain. Some affected individuals have Moyamoya disease, in which arteries at the base of the brain are narrowed, leading to restricted blood flow. These vascular abnormalities are often treatable, though they increase the risk of stroke and reduce the life expectancy of affected individuals.

MalaCards based summary : Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii, also known as microcephalic osteodysplastic primordial dwarfism type ii, is related to dwarfism and moyamoya disease 1. An important gene associated with Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii is PCNT (Pericentrin), and among its related pathways/superpathways are Cell Cycle, Mitotic and Regulation of PLK1 Activity at G2/M Transition. Affiliated tissues include brain, bone and skin, and related phenotypes are delayed skeletal maturation and microcephaly

Disease Ontology : 12 A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly.

GARD : 20 Microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2) is a condition characterized by short stature (dwarfism), skeletal abnormalities and an unusually small head size ( microcephaly ). Other signs and symptoms of MOPD2 may include hip dysplasia; thinning of the bones in the arms and legs; scoliosis ; shortened wrist bones; a high-pitched voice; distinctive facial features (prominent nose, full cheeks, a long midface, and a small jaw); small teeth; abnormal skin pigmentation; and blood vessel abnormalities. Intellectual development is typically normal. It is caused by mutations in the PCNT gene and is inherited in an autosomal recessive manner.

OMIM® : 57 Microcephalic osteodysplastic primordial dwarfism type II is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. It is distinct from Seckel syndrome (see 210600) by more severe growth retardation, radiologic abnormalities, and absent or mild mental retardation (summary by Willems et al., 2010). (210720) (Updated 05-Apr-2021)

KEGG : 36 Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II) is an autosomal recessive condition characterized by severe intrauterine and postnatal growth failure, microcephaly, and disproportionate short stature due to short limbs. Characteristic skeletal abnormalities are seen.

UniProtKB/Swiss-Prot : 72 Microcephalic osteodysplastic primordial dwarfism 2: Adults with this rare inherited condition have an average height of 100 centimeters and a brain size comparable to that of a 3-month-old baby, but are of near-normal intelligence.

Related Diseases for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

Diseases in the Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii family:

Microcephalic Osteodysplastic Primordial Dwarfism, Type I Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii

Diseases related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 dwarfism 32.2 RNU4ATAC PCNT
2 moyamoya disease 1 30.9 RNF213 PCNT CMC4
3 seckel syndrome 1 30.4 PCNT CNTLN CEP152 CENPJ
4 microcephaly 29.4 STIL RNU4ATAC PCNT MCPH1 CEP63 CEP152
5 isolated growth hormone deficiency, type ia 29.1 STIL RNU4ATAC PCNT MCPH1 CNTLN CEP63
6 seckel syndrome 28.7 STIL RNU4ATAC PCNT MCPH1 CNTLN CEP63
7 coxa vara 10.6
8 cerebral aneurysms 10.6
9 autosomal recessive disease 10.5
10 craniosynostosis 10.5
11 cerebrovascular disease 10.5
12 aneurysm 10.5
13 schizophrenia 10.4
14 dubowitz syndrome 10.4
15 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.4
16 cortical dysplasia, complex, with other brain malformations 10 10.4
17 tooth agenesis 10.4
18 papilledema 10.4
19 amelogenesis imperfecta 10.4
20 thrombocytosis 10.4
21 dermatitis 10.4
22 pachygyria 10.4
23 respiratory failure 10.3
24 transient cerebral ischemia 10.3
25 slipped capital femoral epiphysis 10.3
26 avascular necrosis 10.3
27 seckel syndrome 6 10.1 CEP63 CEP152
28 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities 10.1 STIL CEP152
29 microcephaly 13, primary, autosomal recessive 10.1 MCPH1 CEP152
30 adenoid hypertrophy 10.0
31 precocious puberty 10.0
32 central precocious puberty 10.0
33 meier-gorlin syndrome 1 10.0 RNU4ATAC PCNT CEP152
34 microcephaly 14, primary, autosomal recessive 10.0 STIL CEP152 CENPJ
35 acanthosis nigricans 10.0
36 brachydactyly 10.0
37 scoliosis 10.0
38 hyperinsulinism 10.0
39 lipid metabolism disorder 10.0
40 hypotonia 10.0
41 moyamoya angiopathy 10.0
42 microcephaly 1, primary, autosomal recessive 9.9 MCPH1 CEP152 CENPJ ASPM
43 mosaic variegated aneuploidy syndrome 9.9 PCNT CNTLN CEP63 CEP152
44 band heterotopia 9.9 MCPH1 CENPJ CDK5RAP2 ASPM
45 seckel syndrome 5 9.8 PCNT MCPH1 CEP63 CEP152 CENPJ
46 autosomal recessive non-syndromic intellectual disability 9.8 STIL MCPH1 CEP152 CDK5RAP2
47 microcephaly 10, primary, autosomal recessive 9.8 CEP152 CEP135 CENPJ
48 cerebral arterial disease 9.7 RNF213 CMC4
49 seckel syndrome 2 9.7 PCNT MCPH1 CNTLN CEP152 CENPJ CDK5RAP2
50 periventricular nodular heterotopia 9.7 STIL MCPH1 CENPJ CDK5RAP2 ASPM

Graphical network of the top 20 diseases related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii:



Diseases related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

Symptoms & Phenotypes for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

Human phenotypes related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii:

58 31 (show top 50) (show all 88)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
3 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
4 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
5 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
6 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
7 aplasia/hypoplasia of the earlobes 58 31 hallmark (90%) Very frequent (99-80%) HP:0009906
8 fine hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002213
9 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
10 reduced number of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009804
11 nasal speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0001611
12 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
13 high pitched voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0001620
14 coxa vara 58 31 hallmark (90%) Very frequent (99-80%) HP:0002812
15 narrow pelvis bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003275
16 disproportionate short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003498
17 prominent nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000448
18 hypoplastic iliac wing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002866
19 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
20 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
21 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
22 full cheeks 58 31 frequent (33%) Frequent (79-30%) HP:0000293
23 microdontia 58 31 occasional (7.5%) Frequent (79-30%) HP:0000691
24 dry skin 58 31 frequent (33%) Frequent (79-30%) HP:0000958
25 retrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000278
26 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
27 multiple cafe-au-lait spots 58 31 frequent (33%) Frequent (79-30%) HP:0007565
28 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
29 hypopigmented skin patches 58 31 frequent (33%) Frequent (79-30%) HP:0001053
30 aplasia/hypoplasia of the eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0100840
31 underdeveloped nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0000430
32 truncal obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001956
33 abnormality of female external genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0000055
34 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
35 precocious puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000826
36 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
37 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205
38 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
39 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
40 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
41 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
42 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
43 laryngomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001601
44 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
45 stroke 58 31 occasional (7.5%) Occasional (29-5%) HP:0001297
46 arterial stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100545
47 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
48 tracheal stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002777
49 narrow palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0045025
50 narrow chest 31 occasional (7.5%) HP:0000774

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
microcephaly

Head And Neck Face:
retrognathia
sloping forehead

Skin Nails Hair Hair:
sparse scalp hair

Skeletal Pelvis:
coxa vara
small iliac wings
high, narrow pelvis
flat acetabular angles

Skeletal Limbs:
proximal femoral epiphysiolysis
metaphyseal flaring
short, bowed tibiae
short bowed radii
short bowed ulnae
more
Skeletal:
delayed bone age

Head And Neck Teeth:
enamel hypoplasia
opalescent teeth
microdontia, severe (in some patients)
rootless molars (in some patients)
malformation of mandibular premolars (in some patients)

Voice:
high-pitched voice

Skin Nails Hair Skin:
cafe-au-lait spots
areas of hypopigmentation and hyperpigmentation that do not follow blaschko lines (in some patients)

Chest External Features:
narrow chest (in some patients)

Skeletal Skull:
large sella turcica (rare)

Endocrine Features:
type ii diabetes
premature puberty

Growth Other:
intrauterine growth retardation
postnatal growth retardation, severe

Skeletal Hands:
brachydactyly
fifth finger clinodactyly
short distal phalanges
short first metacarpals
metacarpal pseudoepiphyses
more
Genitourinary External Genitalia Male:
hypospadias

Growth Weight:
truncal obesity

Head And Neck Ears:
small ears

Neurologic Central Nervous System:
mental retardation
normal intelligence (in some patients)
developmental delay (mild-severe)
multiple aneurysms
moyamoya disease
more
Head And Neck Eyes:
hyperopia
upward-slanting palpebral fissures

Growth Height:
short stature, disproportionate
adult height (<100cm)

Head And Neck Nose:
prominent nasal root
large nose

Chest Ribs Sternum Clavicles And Scapulae:
long, slender, straight clavicles (in some patients)
hypoplastic scapulae (in some patients)

Skeletal Feet:
distal symphalangism (in some patients)
long second toe (in some patients)

Clinical features from OMIM®:

210720 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.61 ASPM ATRIP CDK5RAP2 CENPJ CEP152 CEP63
2 nervous system MP:0003631 9.28 ASPM ATRIP CDK5RAP2 CENPJ CEP152 CEP63

Drugs & Therapeutics for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII). Completed NCT03139903
2 Primordial Registry at Nemours/Alfred I. duPont Hospital for Children Recruiting NCT04569149

Search NIH Clinical Center for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

Genetic Tests for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

Genetic tests related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii:

# Genetic test Affiliating Genes
1 Microcephalic Osteodysplastic Primordial Dwarfism Type Ii 29 PCNT

Anatomical Context for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

MalaCards organs/tissues related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii:

40
Brain, Bone, Skin, Heart, Smooth Muscle

Publications for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

Articles related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii:

(show top 50) (show all 66)
# Title Authors PMID Year
1
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. 57 6 61
19643772 2010
2
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. 61 57 6
18174396 2008
3
Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population. 57 6
30922925 2020
4
The smallest teeth in the world are caused by mutations in the PCNT gene. 57 6
21567919 2011
5
Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene. 57 6
19839044 2009
6
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. 6 57
18157127 2008
7
Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: confirmation of a new syndrome. 57 6
15372530 2004
8
Apparently new osteodysplastic and primordial short stature with severe microdontia, opalescent teeth, and rootless molars in two siblings. 57 6
12210304 2002
9
Autopsy case of microcephalic osteodysplastic primordial "dwarfism" type II. 57 61
12400072 2002
10
Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review. 57 61
9800908 1998
11
Microcephalic osteodysplastic primordial dwarfism type II. 61 57
7551160 1995
12
Targeted re-sequencing in pediatric and perinatal stroke. 6
32818659 2020
13
Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype. 57
20358609 2010
14
Re: Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies [Brancati et al., 2005: Am J Med Genet 139A:212-215]. 57
16691599 2006
15
Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies. 57
16278902 2005
16
Re: Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies [Kantaputra et al. 2004. Am J Med Genet 130A:181-190]. 57
15723335 2005
17
Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. 57
15368497 2004
18
Microcephalic osteodysplastic primordial short stature type II with café-au-lait spots and moyamoya disease: another patient. 57
15108216 2004
19
Microcephalic osteodysplastic primordial short stature type II with cafe-au-lait spots and moyamoya disease. 57
12599197 2003
20
Osteodysplastic primordial dwarfism type II with normal intellect but delayed central nervous system myelination. 57
9800906 1998
21
Microdontia with severe microcephaly and short stature in two brothers: osteodysplastic primordial dwarfism with dental findings. 57
8533804 1995
22
Osteodysplastic primordial dwarfism: a case with features of type II. 57
7735506 1995
23
Two Japanese cases with microcephalic primordial dwarfism: classical Seckel syndrome and osteodysplastic primordial dwarfism type II. 57
8358044 1993
24
Microcephalic osteodysplastic dwarfism (type II-like) in siblings. 57
3652495 1987
25
A new case of the osteodysplastic primordial dwarfism type II. 57
3591824 1987
26
Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism. 57
7201238 1982
27
[Congenital dwarfisms with dysmorphism. 2. Bird-head congenital dwarfism (Virchow-Seckel type)]. 57
4438033 1974
28
Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II. 61
33460028 2021
29
Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl. 61
32744776 2020
30
Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria. 61
32557621 2020
31
Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation. 61
32267100 2020
32
Discovering candidate imprinted genes and imprinting control regions in the human genome. 61
32475352 2020
33
A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II). 61
32671003 2020
34
Ocular characteristics in a variant microcephalic primordial dwarfism type II. 61
31510961 2019
35
New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report. 61
31311520 2019
36
Schizophrenia in microcephalic osteodysplastic primordial dwarfism type II syndrome: supporting evidence for an association between the PCNT gene and schizophrenia. 61
30531648 2019
37
Novel biallelic PCNT deletion causing microcephalic osteodysplastic primordial dwarfism type II with congenital heart defect. 61
29961235 2019
38
PCNT point mutations and familial intracranial aneurysms. 61
30413633 2018
39
Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II. 61
28940990 2017
40
Erratum to: Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review. 61
28712007 2017
41
Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review. 61
28409412 2017
42
Multiple vascular malformations in a patient with microcephalic osteodysplastic primordial dwarfism type ii. 61
26059803 2017
43
Consequences of Centrosome Dysfunction During Brain Development. 61
28600781 2017
44
Nicolas Ferry (1741-1764), the court dwarf of King Stanislas, probably suffered from microcephalic osteodysplastic primordial dwarfism type II (MOPD II). 61
27241249 2016
45
Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms. 61
26231886 2015
46
Inherited neurovascular diseases affecting cerebral blood vessels and smooth muscle. 61
25893882 2015
47
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome. 61
24973050 2014
48
Drosophila pericentrin requires interaction with calmodulin for its function at centrosomes and neuronal basal bodies but not at sperm basal bodies. 61
25031429 2014
49
Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. 61
24748105 2014
50
A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report. 61
24928221 2014

Variations for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

ClinVar genetic disease variations for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii:

6 (show top 50) (show all 519)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PCNT NM_006031.6(PCNT):c.1468C>T (p.Gln490Ter) SNV Pathogenic 159565 rs181690344 GRCh37: 21:47773029-47773029
GRCh38: 21:46353115-46353115
2 PCNT NM_006031.6(PCNT):c.1887del (p.Ala630fs) Deletion Pathogenic 4704 rs397509366 GRCh37: 21:47775492-47775492
GRCh38: 21:46355577-46355577
3 PCNT NM_006031.6(PCNT):c.3568dup (p.Cys1190fs) Duplication Pathogenic 4705 rs397514033 GRCh37: 21:47808759-47808760
GRCh38: 21:46388844-46388845
4 PCNT NM_006031.6(PCNT):c.844dup (p.Glu282fs) Duplication Pathogenic 4707 rs1601795448 GRCh37: 21:47766777-47766778
GRCh38: 21:46346863-46346864
5 PCNT PCNT, 486-BP DEL, NT84 Deletion Pathogenic 4709 GRCh37:
GRCh38:
6 PCNT NM_006031.6(PCNT):c.8752C>T (p.Arg2918Ter) SNV Pathogenic 4710 rs119479064 GRCh37: 21:47855817-47855817
GRCh38: 21:46435904-46435904
7 PCNT PCNT, 3-BP DEL, 9460AAG Deletion Pathogenic 30542 GRCh37:
GRCh38:
8 PCNT NM_006031.6(PCNT):c.3460G>T (p.Glu1154Ter) SNV Pathogenic 30543 rs387906928 GRCh37: 21:47805894-47805894
GRCh38: 21:46385979-46385979
9 PCNT NM_006031.6(PCNT):c.1528dup (p.Thr510fs) Duplication Pathogenic 40076 rs1369869782 GRCh37: 21:47773083-47773084
GRCh38: 21:46353169-46353170
10 PCNT NM_006031.6(PCNT):c.196G>T (p.Gly66Ter) SNV Pathogenic 127247 rs587779355 GRCh37: 21:47746432-47746432
GRCh38: 21:46326518-46326518
11 PCNT NM_006031.6(PCNT):c.5727_5736del (p.Leu1910fs) Deletion Pathogenic 159623 rs587784312 GRCh37: 21:47831708-47831717
GRCh38: 21:46411794-46411803
12 PCNT NM_006031.6(PCNT):c.5020G>T (p.Glu1674Ter) SNV Pathogenic 159615 rs587784308 GRCh37: 21:47822302-47822302
GRCh38: 21:46402388-46402388
13 PCNT NM_006031.6(PCNT):c.7796del (p.Leu2599fs) Deletion Pathogenic 159663 rs587784319 GRCh37: 21:47850029-47850029
GRCh38: 21:46430115-46430115
14 PCNT NM_006031.6(PCNT):c.8868dup (p.Ala2957fs) Duplication Pathogenic 159677 rs587784320 GRCh37: 21:47855932-47855933
GRCh38: 21:46436019-46436020
15 PCNT NM_006031.6(PCNT):c.8917C>T (p.Arg2973Ter) SNV Pathogenic 159681 rs587784321 GRCh37: 21:47855982-47855982
GRCh38: 21:46436069-46436069
16 PCNT NM_006031.6(PCNT):c.4934_4935AG[2] (p.Arg1646fs) Microsatellite Pathogenic 211864 rs797045879 GRCh37: 21:47821607-47821608
GRCh38: 21:46401693-46401694
17 PCNT NM_006031.6(PCNT):c.1714_1717del (p.Lys572fs) Deletion Pathogenic 211844 rs797045875 GRCh37: 21:47773933-47773936
GRCh38: 21:46354019-46354022
18 PCNT NM_006031.6(PCNT):c.5992C>T (p.Gln1998Ter) SNV Pathogenic 436268 rs757577162 GRCh37: 21:47831979-47831979
GRCh38: 21:46412065-46412065
19 PCNT NM_006031.6(PCNT):c.7804G>T (p.Glu2602Ter) SNV Pathogenic 437418 rs1555999948 GRCh37: 21:47850037-47850037
GRCh38: 21:46430123-46430123
20 PCNT NM_006031.6(PCNT):c.5482G>T (p.Glu1828Ter) SNV Pathogenic 436277 rs1315359733 GRCh37: 21:47831469-47831469
GRCh38: 21:46411555-46411555
21 PCNT NM_006031.6(PCNT):c.1975dup (p.Asp659fs) Duplication Pathogenic 436258 rs1555956600 GRCh37: 21:47776923-47776924
GRCh38: 21:46357008-46357009
22 PCNT NM_006031.6(PCNT):c.7126C>T (p.Gln2376Ter) SNV Pathogenic 504880 rs1555993038 GRCh37: 21:47841985-47841985
GRCh38: 21:46422071-46422071
23 PCNT NM_006031.6(PCNT):c.1680-2A>G SNV Pathogenic 436254 rs1555954786 GRCh37: 21:47773899-47773899
GRCh38: 21:46353985-46353985
24 PCNT NM_006031.6(PCNT):c.3880G>T (p.Glu1294Ter) SNV Pathogenic 436263 rs1359618876 GRCh37: 21:47810624-47810624
GRCh38: 21:46390709-46390709
25 PCNT NM_006031.6(PCNT):c.1032+1G>A SNV Pathogenic 561076 rs1569178877 GRCh37: 21:47767427-47767427
GRCh38: 21:46347513-46347513
26 PCNT NM_006031.6(PCNT):c.8223_8224del (p.Glu2742fs) Deletion Pathogenic 983506 GRCh37: 21:47851601-47851602
GRCh38: 21:46431687-46431688
27 PCNT NM_006031.6(PCNT):c.1435del (p.Thr479fs) Deletion Pathogenic 983507 GRCh37: 21:47771433-47771433
GRCh38: 21:46351519-46351519
28 PCNT NM_006031.6(PCNT):c.5719C>T (p.Gln1907Ter) SNV Pathogenic 983508 GRCh37: 21:47831706-47831706
GRCh38: 21:46411792-46411792
29 PCNT NM_006031.6(PCNT):c.2407C>T (p.Gln803Ter) SNV Pathogenic 984970 GRCh37: 21:47783647-47783647
GRCh38: 21:46363732-46363732
30 PCNT NM_006031.6(PCNT):c.2984_2994del (p.Ala995fs) Deletion Pathogenic 159580 rs587784302 GRCh37: 21:47786870-47786880
GRCh38: 21:46366955-46366965
31 PCNT NM_006031.6(PCNT):c.3840G>C (p.Gln1280His) SNV Pathogenic 30541 rs1569239749 GRCh37: 21:47809346-47809346
GRCh38: 21:46389431-46389431
32 PCNT NM_006031.6(PCNT):c.3109G>T (p.Glu1037Ter) SNV Pathogenic 4708 rs119479063 GRCh37: 21:47786998-47786998
GRCh38: 21:46367083-46367083
33 PCNT NM_006031.6(PCNT):c.398del (p.Phe133fs) Deletion Pathogenic 429602 rs1131691484 GRCh37: 21:47754440-47754440
GRCh38: 21:46334526-46334526
34 PCNT NM_006031.6(PCNT):c.307C>T (p.Gln103Ter) SNV Pathogenic 997587 GRCh37: 21:47754350-47754350
GRCh38: 21:46334436-46334436
35 PCNT NM_006031.6(PCNT):c.3181G>T (p.Glu1061Ter) SNV Pathogenic 998378 GRCh37: 21:47801624-47801624
GRCh38: 21:46381709-46381709
36 PCNT NM_006031.6(PCNT):c.5578G>T (p.Glu1860Ter) SNV Pathogenic 159621 rs369195346 GRCh37: 21:47831565-47831565
GRCh38: 21:46411651-46411651
37 PCNT NM_006031.6(PCNT):c.3058A>T (p.Lys1020Ter) SNV Pathogenic 436261 rs1555962301 GRCh37: 21:47786947-47786947
GRCh38: 21:46367032-46367032
38 PCNT NM_006031.6(PCNT):c.1531C>T (p.Gln511Ter) SNV Pathogenic 1031600 GRCh37: 21:47773092-47773092
GRCh38: 21:46353178-46353178
39 PCNT NM_006031.6(PCNT):c.2347dup (p.Gln783fs) Duplication Pathogenic 1031601 GRCh37: 21:47783586-47783587
GRCh38: 21:46363671-46363672
40 PCNT NM_006031.6(PCNT):c.6162_6163del (p.Lys2054fs) Deletion Pathogenic 444579 rs778391726 GRCh37: 21:47835994-47835995
GRCh38: 21:46416080-46416081
41 PCNT NM_006031.6(PCNT):c.7494+1G>A SNV Pathogenic 1032396 GRCh37: 21:47847710-47847710
GRCh38: 21:46427796-46427796
42 PCNT NM_006031.6(PCNT):c.8326C>T (p.Gln2776Ter) SNV Pathogenic 1032397 GRCh37: 21:47851704-47851704
GRCh38: 21:46431790-46431790
43 PCNT NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter) SNV Pathogenic/Likely pathogenic 4706 rs119479062 GRCh37: 21:47831754-47831754
GRCh38: 21:46411840-46411840
44 PCNT NM_006031.6(PCNT):c.658G>T (p.Glu220Ter) SNV Pathogenic/Likely pathogenic 4703 rs119479061 GRCh37: 21:47766060-47766060
GRCh38: 21:46346146-46346146
45 PCNT NM_006031.6(PCNT):c.607del (p.His203fs) Deletion Likely pathogenic 915399 GRCh37: 21:47754649-47754649
GRCh38: 21:46334735-46334735
46 PCNT NM_006031.6(PCNT):c.3423del (p.Ser1142fs) Deletion Likely pathogenic 930482 GRCh37: 21:47805857-47805857
GRCh38: 21:46385942-46385942
47 PCNT NM_006031.6(PCNT):c.5443C>T (p.Gln1815Ter) SNV Likely pathogenic 976184 GRCh37: 21:47831430-47831430
GRCh38: 21:46411516-46411516
48 PCNT NM_006031.6(PCNT):c.5055dup (p.Gln1686fs) Duplication Likely pathogenic 977848 GRCh37: 21:47822336-47822337
GRCh38: 21:46402422-46402423
49 PCNT NM_006031.6(PCNT):c.3669dup (p.Glu1224Ter) Duplication Likely pathogenic 977860 GRCh37: 21:47809174-47809175
GRCh38: 21:46389259-46389260
50 PCNT NM_006031.6(PCNT):c.3465-1G>A SNV Likely pathogenic 619502 rs755084205 GRCh37: 21:47808656-47808656
GRCh38: 21:46388741-46388741

Expression for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

Search GEO for disease gene expression data for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii.

Pathways for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

GO Terms for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

Cellular components related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.15 STIL RNF213 PCNT MCPH1 CNTLN CETN3
2 cytoskeleton GO:0005856 9.9 STIL PCNT MCPH1 CNTLN CETN3 CEP63
3 microtubule organizing center GO:0005815 9.8 PCNT MCPH1 CETN3 CEP63 CEP152 CENPJ
4 centrosome GO:0005813 9.65 STIL PCNT CNTLN CETN3 CEP63 CEP152
5 microtubule GO:0005874 9.62 PCNT CENPJ CDK5RAP2 ASPM
6 spindle pole GO:0000922 9.61 CEP63 CDK5RAP2 ASPM
7 mitotic spindle pole GO:0097431 9.46 CDK5RAP2 ASPM
8 pericentriolar material GO:0000242 9.4 CEP152 CDK5RAP2
9 centriole GO:0005814 9.23 STIL PCNT CNTLN CETN3 CEP63 CEP152

Biological processes related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 9.81 CETN3 CEP63 CENPJ ASPM
2 G2/M transition of mitotic cell cycle GO:0000086 9.73 PCNT CEP63 CEP152 CEP135 CENPJ CDK5RAP2
3 ciliary basal body-plasma membrane docking GO:0097711 9.63 PCNT CEP63 CEP152 CEP135 CENPJ CDK5RAP2
4 centrosome cycle GO:0007098 9.55 CETN3 CDK5RAP2
5 DNA damage checkpoint GO:0000077 9.54 CEP63 ATRIP
6 establishment of mitotic spindle orientation GO:0000132 9.52 MCPH1 CDK5RAP2
7 protein localization to centrosome GO:0071539 9.49 STIL MCPH1
8 neuronal stem cell population maintenance GO:0097150 9.48 MCPH1 ASPM
9 centrosome duplication GO:0051298 9.46 STIL CEP152
10 centriole-centriole cohesion GO:0010457 9.43 CNTLN CEP135
11 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.43 PCNT CEP63 CEP152 CEP135 CENPJ CDK5RAP2
12 regulation of centriole replication GO:0046599 9.4 STIL CENPJ
13 positive regulation of establishment of protein localization GO:1904951 9.37 CEP135 CENPJ
14 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation GO:0098535 9.32 CEP63 CEP152
15 centriole replication GO:0007099 9.02 CEP63 CEP152 CEP135 CENPJ CDK5RAP2

Molecular functions related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.33 PCNT CDK5RAP2 ASPM
2 protein kinase binding GO:0019901 9.26 CNTLN CEP152 CENPJ CDK5RAP2
3 gamma-tubulin binding GO:0043015 8.62 CENPJ CDK5RAP2

Sources for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

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
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
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68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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