MOPD2
MCID: MCR258
MIFTS: 56

Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii (MOPD2)

Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Data Licensing
For inquiries, contact:

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 12 43
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii 11 24 42 58 28 5 14 75
Majewski Osteodysplastic Primordial Dwarfism Type Ii 11 24 19 42 58
Mopd2 57 42 73
Osteodysplastic Primordial Dwarfism Type Ii 11 42
Osteodysplastic Primordial Dwarfism Type 2 19 73
Mopd Ii 57 19
Mopdii 24 42
Microcephalic Osteodysplastic Primordial Dwarfism with Tooth Abnormalities 19
Pcnt-Related Microcephalic Osteodysplastic Primordial Dwarfism 24
Dwarfism, Primordial, Osteodysplastic, Microcephalic Type Ii 38
Microcephalic Osteodysplastic Primordial Dwarfism Type 2 19
Microcephalic Osteodysplastic Primordial Dwarfism 2 73
Osteodysplastic Primordial Dwarfism, Type Ii 57
Mopd Type Ii 58
Mopd 2 19

Characteristics:


Inheritance:

Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii: Autosomal recessive 57
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii: Autosomal recessive 58

Age Of Onset:

Microcephalic Osteodysplastic Primordial Dwarfism Type Ii: Antenatal,Infancy,Neonatal 58

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: 42 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 lissencephaly and isolated growth hormone deficiency. 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 Loss of Nlp from mitotic centrosomes. Affiliated tissues include bone, brain and skin, and related phenotypes are delayed skeletal maturation and microcephaly

GARD: 19 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 genetic changes 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 08-Dec-2022)

Disease Ontology: 11 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.

Orphanet: 58 A rare bone disease and a form of microcephalic primordial dwarfism characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.

UniProtKB/Swiss-Prot: 73 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.

Wikipedia: 75 Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a form of primordial dwarfism... more...

GeneReviews: NBK575926

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 93)
# Related Disease Score Top Affiliating Genes
1 lissencephaly 30.5 WDR62 CENPJ CDK5RAP2 ASPM
2 isolated growth hormone deficiency 30.3 RNU4ATAC PCNT CNTLN CEP152 CENPJ CDK5RAP2
3 moyamoya disease 1 30.1 ZXDC RNF213 PCNT DEFB133 CMC4
4 microcephaly 30.0 WDR62 STIL RNU4ATAC PCNT MCPH1 CNTLN
5 isolated growth hormone deficiency, type ia 30.0 WDR62 STIL RNU4ATAC PCNT MCPH1 CNTLN
6 seckel syndrome 29.5 WDR62 STIL RNU4ATAC PCNT MCPH1 CNTLN
7 microcephalic osteodysplastic primordial dwarfism, type i 11.0
8 coxa vara 10.7
9 osteochondrodysplasia 10.7
10 cerebrovascular disease 10.7
11 thrombocytosis 10.6
12 cerebral aneurysms 10.6
13 scoliosis 10.5
14 vascular disease 10.5
15 craniosynostosis 10.5
16 brachydactyly, type a3 10.4
17 cafe-au-lait spots, multiple 10.4
18 schizophrenia 10.4
19 thyroid cancer, nonmedullary, 1 10.4
20 seckel syndrome 1 10.4
21 dubowitz syndrome 10.4
22 nijmegen breakage syndrome 10.4
23 tooth agenesis 10.4
24 intracranial berry aneurysm 10.4
25 papilledema 10.4
26 amelogenesis imperfecta 10.4
27 renal artery disease 10.4
28 dermatitis 10.4
29 glucosephosphate dehydrogenase deficiency 10.4
30 hemolytic anemia 10.4
31 chronic kidney disease 10.4
32 hypopituitarism 10.4
33 growth hormone deficiency 10.4
34 renal dysplasia 10.4
35 myocardial infarction 10.3
36 respiratory failure 10.3
37 transient cerebral ischemia 10.3
38 epiphysiolysis of the hip 10.3
39 avascular necrosis 10.3
40 seckel syndrome 6 10.1 CEP63 CEP152
41 zika virus congenital syndrome 10.1 STIL CDK5RAP2
42 microcephaly 3, primary, autosomal recessive 10.1 CEP135 CDK5RAP2
43 adenoid hypertrophy 10.0
44 central precocious puberty 10.0
45 prediabetes syndrome 10.0
46 patent foramen ovale 10.0
47 heart septal defect 10.0
48 atrial heart septal defect 10.0
49 precocious puberty 10.0
50 interatrial communication 10.0

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 30 (show top 50) (show all 90)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002750
2 microcephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000252
3 intrauterine growth retardation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001511
4 brachydactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001156
5 clinodactyly of the 5th finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004209
6 aplasia/hypoplasia of the earlobes 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009906
7 fine hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002213
8 nasal speech 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001611
9 micromelia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002983
10 high pitched voice 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001620
11 coxa vara 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002812
12 narrow pelvis bone 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003275
13 prominent nose 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000448
14 disproportionate short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003498
15 hypoplastic iliac wing 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002866
16 tooth agenesis 30 Hallmark (90%) HP:0009804
17 abnormal epiphysis morphology 30 Hallmark (90%) HP:0005930
18 abnormal metaphysis morphology 30 Hallmark (90%) HP:0000944
19 scoliosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002650
20 wide nasal bridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0000431
21 sensorineural hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000407
22 full cheeks 58 30 Frequent (33%) Frequent (79-30%)
HP:0000293
23 microdontia 58 30 Occasional (7.5%) Frequent (79-30%)
HP:0000691
24 dry skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0000958
25 retrognathia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000278
26 low-set ears 58 30 Frequent (33%) Frequent (79-30%)
HP:0000369
27 multiple cafe-au-lait spots 58 30 Frequent (33%) Frequent (79-30%)
HP:0007565
28 joint hyperflexibility 58 30 Frequent (33%) Frequent (79-30%)
HP:0005692
29 hypopigmented skin patches 58 30 Frequent (33%) Frequent (79-30%)
HP:0001053
30 aplasia/hypoplasia of the eyebrow 58 30 Frequent (33%) Frequent (79-30%)
HP:0100840
31 underdeveloped nasal alae 58 30 Frequent (33%) Frequent (79-30%)
HP:0000430
32 truncal obesity 58 30 Frequent (33%) Frequent (79-30%)
HP:0001956
33 abnormality of female external genitalia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000055
34 intellectual disability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001249
35 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
36 precocious puberty 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000826
37 global developmental delay 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001263
38 recurrent respiratory infections 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002205
39 anemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001903
40 attention deficit hyperactivity disorder 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007018
41 atrial septal defect 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001631
42 downslanted palpebral fissures 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000494
43 patent ductus arteriosus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001643
44 laryngomalacia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001601
45 ventriculomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002119
46 stroke 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001297
47 arterial stenosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100545
48 tracheal stenosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002777
49 hypoplasia of the corpus callosum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002079
50 narrow palpebral fissure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0045025

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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
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
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 Teeth:
enamel hypoplasia
opalescent teeth
microdontia, severe (in some patients)
rootless molars (in some patients)
malformation of mandibular premolars (in some patients)

Skeletal:
delayed bone age

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 08-Dec-2022)

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.65 ASPM CDK5RAP2 CENPJ CEP152 CEP63 CETN3
2 cellular MP:0005384 9.36 ASPM CDK5RAP2 CENPJ CEP152 CEP63 CETN3

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

Cochrane evidence based reviews: 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 28 PCNT

Anatomical Context for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

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

MalaCards : Bone, Brain, Skin, Olfactory Bulb, Smooth Muscle, Heart

Publications for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

Articles related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii:

(show top 50) (show all 115)
# Title Authors PMID Year
1
Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population. 62 24 57 5
30922925 2020
2
The smallest teeth in the world are caused by mutations in the PCNT gene. 62 24 57 5
21567919 2011
3
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. 62 24 57 5
18174396 2008
4
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. 24 57 5
18157127 2008
5
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. 62 57 5
19643772 2010
6
Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene. 62 57 5
19839044 2009
7
Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: confirmation of a new syndrome. 57 5
15372530 2004
8
Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. 62 24 57
15368497 2004
9
Apparently new osteodysplastic and primordial short stature with severe microdontia, opalescent teeth, and rootless molars in two siblings. 57 5
12210304 2002
10
Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype. 62 57
20358609 2010
11
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]. 62 57
16691599 2006
12
Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies. 62 57
16278902 2005
13
Autopsy case of microcephalic osteodysplastic primordial "dwarfism" type II. 62 57
12400072 2002
14
Osteodysplastic primordial dwarfism type II with normal intellect but delayed central nervous system myelination. 62 57
9800906 1998
15
Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review. 62 57
9800908 1998
16
Microdontia with severe microcephaly and short stature in two brothers: osteodysplastic primordial dwarfism with dental findings. 62 57
8533804 1995
17
Microcephalic osteodysplastic primordial dwarfism type II. 62 57
7551160 1995
18
Two Japanese cases with microcephalic primordial dwarfism: classical Seckel syndrome and osteodysplastic primordial dwarfism type II. 62 57
8358044 1993
19
A new case of the osteodysplastic primordial dwarfism type II. 62 57
3591824 1987
20
Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease. 62 24
34016138 2021
21
Targeted re-sequencing in pediatric and perinatal stroke. 5
32818659 2020
22
Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation. 62 24
32267100 2020
23
PCNT point mutations and familial intracranial aneurysms. 62 24
30413633 2018
24
Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II. 62 24
28940990 2017
25
Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review. 62 24
28409412 2017
26
Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden. 5
27124789 2016
27
Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies. 62 24
27611897 2016
28
Hip pathology in Majewski osteodysplastic primordial dwarfism type II. 62 24
24705347 2014
29
A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report. 62 24
24928221 2014
30
Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis. 62 24
24106199 2014
31
Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations. 62 24
22821869 2012
32
Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1. 62 24
19546241 2009
33
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
34
Microcephalic osteodysplastic primordial short stature type II with café-au-lait spots and moyamoya disease: another patient. 57
15108216 2004
35
Microcephalic osteodysplastic primordial short stature type II with cafe-au-lait spots and moyamoya disease. 57
12599197 2003
36
Osteodysplastic primordial dwarfism: a case with features of type II. 57
7735506 1995
37
Microcephalic osteodysplastic dwarfism (type II-like) in siblings. 57
3652495 1987
38
Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism. 57
7201238 1982
39
[Congenital dwarfisms with dysmorphism. 2. Bird-head congenital dwarfism (Virchow-Seckel type)]. 57
4438033 1974
40
A dyadic approach to the delineation of diagnostic entities in clinical genomics. 24
33417889 2021
41
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. 24
32596782 2020
42
Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage. 24
32367296 2020
43
Genomic and phenotypic delineation of congenital microcephaly. 24
30214071 2019
44
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 24
28959963 2017
45
Mechanisms and pathways of growth failure in primordial dwarfism. 24
21979914 2011
46
Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes. 24
21270239 2011
47
Renal Dysplasia and Precocious Diabetes Onset in Microcephalic Osteodysplastic Primordial Dwarfism Type II Syndrome: A Case Report. 62
35769963 2022
48
Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys. 62
35422036 2022
49
Microcephalic Osteodysplastic Primordial Dwarfism Type II 62
34978779 2021
50
A 10-Year-Old Boy with Short Stature and Microcephaly, Diagnosed with Moyamoya Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II). 62
34923567 2021

Variations for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

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

5 (show top 50) (show all 536)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PCNT NM_006031.6(PCNT):c.1887del (p.Ala630fs) DEL Pathogenic
4704 rs397509366 GRCh37: 21:47775492-47775492
GRCh38: 21:46355577-46355577
2 PCNT NM_006031.6(PCNT):c.3568dup (p.Cys1190fs) DUP Pathogenic
4705 rs397514033 GRCh37: 21:47808759-47808760
GRCh38: 21:46388844-46388845
3 PCNT NM_006031.6(PCNT):c.844dup (p.Glu282fs) DUP Pathogenic
4707 rs1601795448 GRCh37: 21:47766777-47766778
GRCh38: 21:46346863-46346864
4 PCNT NM_006031.6(PCNT):c.3109G>T (p.Glu1037Ter) SNV Pathogenic
4708 rs119479063 GRCh37: 21:47786998-47786998
GRCh38: 21:46367083-46367083
5 PCNT NM_006031.6(PCNT):c.8752C>T (p.Arg2918Ter) SNV Pathogenic
4710 rs119479064 GRCh37: 21:47855817-47855817
GRCh38: 21:46435904-46435904
6 PCNT NM_006031.6(PCNT):c.3840G>C (p.Gln1280His) SNV Pathogenic
30541 rs1569239749 GRCh37: 21:47809346-47809346
GRCh38: 21:46389431-46389431
7 PCNT NM_006031.6(PCNT):c.3460G>T (p.Glu1154Ter) SNV Pathogenic
30543 rs387906928 GRCh37: 21:47805894-47805894
GRCh38: 21:46385979-46385979
8 PCNT NM_006031.6(PCNT):c.1528dup (p.Thr510fs) DUP Pathogenic
40076 rs1369869782 GRCh37: 21:47773083-47773084
GRCh38: 21:46353169-46353170
9 PCNT NM_006031.6(PCNT):c.196G>T (p.Gly66Ter) SNV Pathogenic
127247 rs587779355 GRCh37: 21:47746432-47746432
GRCh38: 21:46326518-46326518
10 PCNT NM_006031.6(PCNT):c.7126C>T (p.Gln2376Ter) SNV Pathogenic
504880 rs1555993038 GRCh37: 21:47841985-47841985
GRCh38: 21:46422071-46422071
11 PCNT NM_006031.6(PCNT):c.1032+1G>A SNV Pathogenic
561076 rs1569178877 GRCh37: 21:47767427-47767427
GRCh38: 21:46347513-46347513
12 PCNT NM_006031.6(PCNT):c.398del (p.Phe133fs) DEL Pathogenic
429602 rs1131691484 GRCh37: 21:47754440-47754440
GRCh38: 21:46334526-46334526
13 PCNT NM_006031.6(PCNT):c.8223_8224del (p.Glu2742fs) DEL Pathogenic
983506 rs2087769756 GRCh37: 21:47851601-47851602
GRCh38: 21:46431687-46431688
14 PCNT NM_006031.6(PCNT):c.1435del (p.Thr479fs) DEL Pathogenic
983507 rs2084270803 GRCh37: 21:47771433-47771433
GRCh38: 21:46351519-46351519
15 PCNT NM_006031.6(PCNT):c.5719C>T (p.Gln1907Ter) SNV Pathogenic
983508 rs2086794191 GRCh37: 21:47831706-47831706
GRCh38: 21:46411792-46411792
16 PCNT NM_006031.6(PCNT):c.2407C>T (p.Gln803Ter) SNV Pathogenic
984970 rs1569201595 GRCh37: 21:47783647-47783647
GRCh38: 21:46363732-46363732
17 PCNT NM_006031.6(PCNT):c.8752-2A>C SNV Pathogenic
982268 GRCh37: 21:47855815-47855815
GRCh38: 21:46435902-46435902
18 PCNT NM_006031.6(PCNT):c.4974_4977del (p.Lys1659fs) DEL Pathogenic
982307 GRCh37: 21:47822256-47822259
GRCh38: 21:46402342-46402345
19 PCNT NM_006031.6(PCNT):c.8107C>T (p.Arg2703Ter) SNV Pathogenic
982309 GRCh37: 21:47851485-47851485
GRCh38: 21:46431571-46431571
20 PCNT NM_006031.6(PCNT):c.9535dup (p.Val3179fs) DUP Pathogenic
279984 rs747058622 GRCh37: 21:47860904-47860905
GRCh38: 21:46440991-46440992
21 PCNT NM_006031.6(PCNT):c.1490dup (p.Val498fs) DUP Pathogenic
1323421 GRCh37: 21:47773050-47773051
GRCh38: 21:46353136-46353137
22 PCNT NM_006031.6(PCNT):c.3465-1G>C SNV Pathogenic
1323422 GRCh37: 21:47808656-47808656
GRCh38: 21:46388741-46388741
23 PCNT NM_006031.6(PCNT):c.4655C>A (p.Ser1552Ter) SNV Pathogenic
1323423 GRCh37: 21:47819574-47819574
GRCh38: 21:46399660-46399660
24 PCNT NM_006031.6(PCNT):c.8065-1G>A SNV Pathogenic
1323424 GRCh37: 21:47851442-47851442
GRCh38: 21:46431528-46431528
25 PCNT NM_006031.6(PCNT):c.9700+1G>A SNV Pathogenic
1323425 GRCh37: 21:47862487-47862487
GRCh38: 21:46442574-46442574
26 PCNT NM_006031.6(PCNT):c.6384_6385del (p.Thr2128_Cys2129insTer) DEL Pathogenic
1323426 GRCh37: 21:47836216-47836217
GRCh38: 21:46416302-46416303
27 PCNT NM_006031.6(PCNT):c.7511del (p.Lys2504fs) DEL Pathogenic
1323427 GRCh37: 21:47848322-47848322
GRCh38: 21:46428408-46428408
28 PCNT NM_006031.6(PCNT):c.1444C>T (p.Gln482Ter) SNV Pathogenic
1332726 GRCh37: 21:47771442-47771442
GRCh38: 21:46351528-46351528
29 PCNT NM_006031.6(PCNT):c.5059_5060del (p.Asn1687fs) DEL Pathogenic
1343402 GRCh37: 21:47822341-47822342
GRCh38: 21:46402427-46402428
30 PCNT NM_006031.6(PCNT):c.2374C>T (p.Arg792Ter) SNV Pathogenic
191168 rs151020551 GRCh37: 21:47783614-47783614
GRCh38: 21:46363699-46363699
31 PCNT NM_006031.6(PCNT):c.2984_2994del (p.Ala995fs) DEL Pathogenic
159580 rs587784302 GRCh37: 21:47786870-47786880
GRCh38: 21:46366955-46366965
32 PCNT NM_006031.6(PCNT):c.5020G>T (p.Glu1674Ter) SNV Pathogenic
159615 rs587784308 GRCh37: 21:47822302-47822302
GRCh38: 21:46402388-46402388
33 PCNT NM_006031.6(PCNT):c.5727_5736del (p.Leu1910fs) DEL Pathogenic
159623 rs587784312 GRCh37: 21:47831708-47831717
GRCh38: 21:46411794-46411803
34 PCNT NM_006031.6(PCNT):c.8917C>T (p.Arg2973Ter) SNV Pathogenic
159681 rs587784321 GRCh37: 21:47855982-47855982
GRCh38: 21:46436069-46436069
35 PCNT NM_006031.6(PCNT):c.5578G>T (p.Glu1860Ter) SNV Pathogenic
159621 rs369195346 GRCh37: 21:47831565-47831565
GRCh38: 21:46411651-46411651
36 PCNT NM_006031.6(PCNT):c.7796del (p.Leu2599fs) DEL Pathogenic
159663 rs587784319 GRCh37: 21:47850029-47850029
GRCh38: 21:46430115-46430115
37 PCNT NM_006031.6(PCNT):c.4938_4939del (p.Arg1646fs) MICROSAT Pathogenic
211864 rs797045879 GRCh37: 21:47821607-47821608
GRCh38: 21:46401693-46401694
38 PCNT NM_006031.6(PCNT):c.1714_1717del (p.Lys572fs) DEL Pathogenic
211844 rs797045875 GRCh37: 21:47773933-47773936
GRCh38: 21:46354019-46354022
39 PCNT NM_006031.6(PCNT):c.8868dup (p.Ala2957fs) DUP Pathogenic
159677 rs587784320 GRCh37: 21:47855932-47855933
GRCh38: 21:46436019-46436020
40 PCNT NM_006031.6(PCNT):c.1680-2A>G SNV Pathogenic
436254 rs1555954786 GRCh37: 21:47773899-47773899
GRCh38: 21:46353985-46353985
41 PCNT NM_006031.6(PCNT):c.3880G>T (p.Glu1294Ter) SNV Pathogenic
436263 rs1359618876 GRCh37: 21:47810624-47810624
GRCh38: 21:46390709-46390709
42 PCNT NM_006031.6(PCNT):c.5992C>T (p.Gln1998Ter) SNV Pathogenic
436268 rs757577162 GRCh37: 21:47831979-47831979
GRCh38: 21:46412065-46412065
43 PCNT NM_006031.6(PCNT):c.5482G>T (p.Glu1828Ter) SNV Pathogenic
436277 rs1315359733 GRCh37: 21:47831469-47831469
GRCh38: 21:46411555-46411555
44 PCNT NM_006031.6(PCNT):c.1975dup (p.Asp659fs) DUP Pathogenic
436258 rs1555956600 GRCh37: 21:47776923-47776924
GRCh38: 21:46357008-46357009
45 PCNT NM_006031.6(PCNT):c.3058A>T (p.Lys1020Ter) SNV Pathogenic
436261 rs1555962301 GRCh37: 21:47786947-47786947
GRCh38: 21:46367032-46367032
46 PCNT PCNT, 486-BP DEL, NT84 DEL Pathogenic
4709 GRCh37:
GRCh38:
47 PCNT NM_006031.6(PCNT):c.9457AAG[1] (p.Lys3154del) MICROSAT Pathogenic
30542 GRCh37: 21:47860831-47860833
GRCh38: 21:46440918-46440920
48 PCNT NM_006031.6(PCNT):c.1468C>T (p.Gln490Ter) SNV Pathogenic
159565 rs181690344 GRCh37: 21:47773029-47773029
GRCh38: 21:46353115-46353115
49 PCNT NM_006031.6(PCNT):c.7804G>T (p.Glu2602Ter) SNV Pathogenic
437418 rs1555999948 GRCh37: 21:47850037-47850037
GRCh38: 21:46430123-46430123
50 PCNT NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter) SNV Pathogenic/Likely Pathogenic
4706 rs119479062 GRCh37: 21:47831754-47831754
GRCh38: 21:46411840-46411840

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 centrosome GO:0005813 10 ASPM CDK5RAP2 CENPJ CEP135 CEP152 CEP63
2 cytoskeleton GO:0005856 9.97 ASPM CDK5RAP2 CENPJ CEP135 CEP152 CEP63
3 microtubule organizing center GO:0005815 9.96 WDR62 PCNT MCPH1 CETN3 CEP63 CEP152
4 spindle pole GO:0000922 9.91 WDR62 CEP63 CDK5RAP2 ASPM
5 procentriole replication complex GO:0120099 9.8 STIL CEP152 CENPJ
6 centriole GO:0005814 9.58 WDR62 STIL PCNT CNTLN CETN3 CEP63

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cerebral cortex development GO:0021987 9.97 WDR62 MCPH1 ASPM
2 mitotic spindle organization GO:0007052 9.91 WDR62 STIL PCNT
3 protein localization to centrosome GO:0071539 9.84 STIL MCPH1
4 regulation of mitotic spindle organization GO:0060236 9.83 STIL CENPJ
5 centriole-centriole cohesion GO:0010457 9.81 CNTLN CEP135
6 regulation of centriole replication GO:0046599 9.78 STIL CENPJ
7 positive regulation of non-motile cilium assembly GO:1902857 9.76 CEP135 CENPJ
8 positive regulation of spindle assembly GO:1905832 9.71 CENPJ STIL
9 positive regulation of establishment of protein localization GO:1904951 9.67 CEP135 CENPJ
10 regulation of centrosome cycle GO:0046605 9.62 WDR62 MCPH1
11 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation GO:0098535 9.56 CEP63 CEP152
12 positive regulation of centriole replication GO:0046601 9.46 STIL CENPJ
13 centriole replication GO:0007099 9.4 WDR62 CEP63 CEP152 CEP135 CENPJ CDK5RAP2
14 centrosome duplication GO:0051298 9.35 STIL CEP152 CENPJ

Sources for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....