MCID: MCR258
MIFTS: 47

Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

Categories: Genetic diseases, Rare diseases, Bone diseases, Neuronal diseases, Fetal 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 54 24 13
Majewski Osteodysplastic Primordial Dwarfism Type Ii 12 50 24 25
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii 12 25 14
Microcephalic Osteodysplastic Primordial Dwarfism Type 2 50 29
Osteodysplastic Primordial Dwarfism Type Ii 12 25
Osteodysplastic Primordial Dwarfism Type 2 50 71
Mopdii 24 25
Mopd2 25 71
Microcephalic Osteodysplastic Primordial Dwarfism with Tooth Abnormalities 50
Microcephalic Osteodysplastic Primordial Dwarfism 2 71
Mopd Ii 50
Mopd 2 50

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
microcephalic osteodysplastic primordial dwarfism, type ii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

Genetics Home Reference : 25 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.

MalaCards based summary : Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii, also known as majewski osteodysplastic primordial dwarfism type ii, is related to dwarfism and intracranial aneurysm, and has symptoms including scoliosis, brachydactyly and sparse scalp hair. 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 bone, brain and skin.

NIH Rare Diseases : 50 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. last updated: 11/11/2011

UniProtKB/Swiss-Prot : 71 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.

OMIM : 54
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)

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.

Related Diseases for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

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

Symptoms via clinical synopsis from OMIM:

54

Skeletal:
delayed bone age

Skin Nails & Hair- Hair:
sparse scalp hair

Head And Neck- Head:
microcephaly

Growth- Other:
intrauterine growth retardation
postnatal growth retardation, severe

Head And Neck- Face:
retrognathia
sloping forehead

Head And Neck- Ears:
small ears

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)

Head And Neck- Nose:
prominent nasal root
large nose

Chest- External Features:
narrow chest (in some patients)

Skeletal- Limbs:
short, bowed tibiae
metaphyseal flaring
short bowed radii
short bowed ulnae
v-shaped flaring of distal femoral metaphyses
more
Skeletal- Skull:
large sella turcica (rare)

Endocrine Features:
type ii diabetes
premature puberty

Skeletal- Hands:
brachydactyly
fifth finger clinodactyly
short distal phalanges
short first metacarpals
metacarpal pseudoepiphyses
more
Neurologic- Central Nervous System:
mental retardation
moyamoya disease
normal intelligence (in some patients)
developmental delay (mild-severe)
multiple aneurysms
more
Growth- Height:
short stature, disproportionate
adult height (<100cm)

Genitourinary- External Genitalia Male:
hypospadias

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

Head And Neck- Eyes:
hyperopia
upward-slanting palpebral fissures

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

Voice:
high-pitched voice

Growth- Weight:
truncal obesity

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

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

32 (show top 50) (show all 85)
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 frequent (33%) HP:0002650
2 brachydactyly 32 hallmark (90%) HP:0001156
3 sparse scalp hair 32 HP:0002209
4 recurrent respiratory infections 32 occasional (7.5%) HP:0002205
5 ventriculomegaly 32 occasional (7.5%) HP:0002119
6 seizures 32 occasional (7.5%) HP:0001250
7 microcephaly 32 hallmark (90%) HP:0000252
8 low-set ears 32 frequent (33%) HP:0000369
9 anemia 32 occasional (7.5%) HP:0001903
10 radial bowing 32 HP:0002986
11 tibial bowing 32 HP:0002982
12 intrauterine growth retardation 32 hallmark (90%) HP:0001511
13 atrial septal defect 32 occasional (7.5%) HP:0001631
14 patent ductus arteriosus 32 occasional (7.5%) HP:0001643
15 hypospadias 32 HP:0000047
16 retrognathia 32 frequent (33%) HP:0000278
17 sloping forehead 32 HP:0000340
18 global developmental delay 32 occasional (7.5%) HP:0001263
19 narrow chest 32 occasional (7.5%) HP:0000774
20 hypoplastic scapulae 32 occasional (7.5%) HP:0000882
21 intellectual disability 32 occasional (7.5%) HP:0001249
22 hypoplasia of the corpus callosum 32 occasional (7.5%) HP:0002079
23 wide nasal bridge 32 frequent (33%) HP:0000431
24 full cheeks 32 frequent (33%) HP:0000293
25 prominent nose 32 hallmark (90%) HP:0000448
26 dry skin 32 frequent (33%) HP:0000958
27 stroke 32 occasional (7.5%) HP:0001297
28 hypermetropia 32 HP:0000540
29 downslanted palpebral fissures 32 occasional (7.5%) HP:0000494
30 coxa vara 32 hallmark (90%) HP:0002812
31 postnatal growth retardation 32 HP:0008897
32 joint hyperflexibility 32 frequent (33%) HP:0005692
33 micromelia 32 hallmark (90%) HP:0002983
34 limited elbow extension 32 occasional (7.5%) HP:0001377
35 fine hair 32 hallmark (90%) HP:0002213
36 nasal speech 32 hallmark (90%) HP:0001611
37 ivory epiphyses 32 occasional (7.5%) HP:0010583
38 microtia 32 HP:0008551
39 microdontia 32 occasional (7.5%) HP:0000691
40 delayed skeletal maturation 32 hallmark (90%) HP:0002750
41 long clavicles 32 occasional (7.5%) HP:0000890
42 sensorineural hearing impairment 32 frequent (33%) HP:0000407
43 truncal obesity 32 frequent (33%) HP:0001956
44 prominent nasal bridge 32 HP:0000426
45 high pitched voice 32 hallmark (90%) HP:0001620
46 hypopigmented skin patches 32 frequent (33%) HP:0001053
47 tracheal stenosis 32 occasional (7.5%) HP:0002777
48 precocious puberty 32 occasional (7.5%) HP:0000826
49 laryngomalacia 32 occasional (7.5%) HP:0001601
50 hypoplastic iliac wing 32 hallmark (90%) HP:0002866

Drugs & Therapeutics for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

Interventional clinical trials:


id 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 Completed NCT03139903

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:

id Genetic test Affiliating Genes
1 Microcephalic Osteodysplastic Primordial Dwarfism Type 2 29
2 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 24 PCNT

Anatomical Context for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

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

39
Bone, Brain, Skin

Publications for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

Articles related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii:

(show all 20)
id Title Authors Year
1
Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review. ( 28409412 )
2017
2
Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II. ( 28940990 )
2017
3
Nicolas Ferry (1741-1764), the court dwarf of King Stanislas, probably suffered from microcephalic osteodysplastic primordial dwarfism type II (MOPD II). ( 27241249 )
2016
4
Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms. ( 26231886 )
2015
5
Multiple vascular malformations in a patient with microcephalic osteodysplastic primordial dwarfism type ii. ( 26059803 )
2015
6
A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report. ( 24928221 )
2014
7
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome. ( 24973050 )
2014
8
Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): A potential role of pericentrin in hematopoiesis. ( 24106199 )
2014
9
Screening for cerebrovascular disease in microcephalic osteodysplastic primordial dwarfism type II (MOPD II): an evidence-based proposal. ( 23498563 )
2013
10
"Ocular moyamoya" syndrome in a patient with features of microcephalic osteodysplastic primordial dwarfism type II. ( 23337351 )
2013
11
Cranial vault remodeling in microcephalic osteodysplastic primordial dwarfism type II and craniosynostosis. ( 22948629 )
2012
12
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. ( 19643772 )
2010
13
Multiple intracranial aneurysms and moyamoya disease associated with microcephalic osteodysplastic primordial dwarfism type II: surgical considerations. ( 19877776 )
2009
14
Neurologic aspects of microcephalic osteodysplastic primordial dwarfism type II. ( 18486828 )
2008
15
Cutaneous features associated with microcephalic osteodysplastic primordial dwarfism type II. ( 18577061 )
2008
16
A 17-month-old with extreme prenatal-onset growth delay. Microcephalic osteodysplastic primordial dwarfism type II. ( 11131353 )
2000
17
Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review. ( 9800908 )
1998
18
Case report. Microcephalic osteodysplastic primordial dwarfism type II: a child with unusual symptoms and clinical course. ( 8874115 )
1996
19
Microcephalic osteodysplastic primordial dwarfism type II. ( 7551160 )
1995
20
Microcephalic osteodysplastic primordial dwarfism, type II. Report of a case with characteristic skeletal features. ( 1815189 )
1991

Variations for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

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

6 (show all 33)
id Gene Variation Type Significance SNP ID Assembly Location
1 PCNT NM_006031.5(PCNT): c.658G> T (p.Glu220Ter) single nucleotide variant Pathogenic rs119479061 GRCh37 Chromosome 21, 47766060: 47766060
2 PCNT NM_006031.5(PCNT): c.1887delA (p.Ala630Hisfs) deletion Pathogenic rs397509366 GRCh37 Chromosome 21, 47775492: 47775492
3 PCNT NM_006031.5(PCNT): c.3568dupT (p.Cys1190Leufs) duplication Pathogenic rs397514033 GRCh37 Chromosome 21, 47808760: 47808760
4 PCNT NM_006031.5(PCNT): c.5767C> T (p.Arg1923Ter) single nucleotide variant Pathogenic rs119479062 GRCh37 Chromosome 21, 47831754: 47831754
5 PCNT PCNT, 1-BP INS, 841G insertion Pathogenic
6 PCNT NM_006031.5(PCNT): c.3109G> T (p.Glu1037Ter) single nucleotide variant Pathogenic rs119479063 GRCh37 Chromosome 21, 47786998: 47786998
7 PCNT PCNT, 486-BP DEL, NT84 deletion Pathogenic
8 PCNT NM_006031.5(PCNT): c.8752C> T (p.Arg2918Ter) single nucleotide variant Pathogenic rs119479064 GRCh37 Chromosome 21, 47855817: 47855817
9 PCNT PCNT, GLN1280HIS single nucleotide variant Pathogenic
10 PCNT PCNT, 3-BP DEL, 9460AAG deletion Pathogenic
11 PCNT NM_006031.5(PCNT): c.3460G> T (p.Glu1154Ter) single nucleotide variant Pathogenic rs387906928 GRCh37 Chromosome 21, 47805894: 47805894
12 PCNT PCNT, 1-BP INS, 1527A insertion Pathogenic
13 PCNT NM_006031.5(PCNT): c.196G> T (p.Gly66Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587779355 GRCh37 Chromosome 21, 47746432: 47746432
14 PCNT NM_006031.5(PCNT): c.1468C> T (p.Gln490Ter) single nucleotide variant Pathogenic rs181690344 GRCh37 Chromosome 21, 47773029: 47773029
15 PCNT NM_006031.5(PCNT): c.2984_2994delCAGACTTTGAG (p.Ala995Glyfs) deletion Pathogenic rs587784302 GRCh37 Chromosome 21, 47786873: 47786883
16 PCNT NM_006031.5(PCNT): c.5020G> T (p.Glu1674Ter) single nucleotide variant Pathogenic rs587784308 GRCh37 Chromosome 21, 47822302: 47822302
17 PCNT NM_006031.5(PCNT): c.5578G> T (p.Glu1860Ter) single nucleotide variant Pathogenic rs369195346 GRCh37 Chromosome 21, 47831565: 47831565
18 PCNT NM_006031.5(PCNT): c.5727_5736delCCTGGCAGCC (p.Leu1910Glyfs) deletion Pathogenic rs587784312 GRCh37 Chromosome 21, 47831714: 47831723
19 PCNT NM_006031.5(PCNT): c.7796delT (p.Leu2599Argfs) deletion Pathogenic rs587784319 GRCh37 Chromosome 21, 47850029: 47850029
20 PCNT NM_006031.5(PCNT): c.8868dupT (p.Ala2957Cysfs) duplication Pathogenic rs587784320 GRCh37 Chromosome 21, 47855933: 47855933
21 PCNT NM_006031.5(PCNT): c.8917C> T (p.Arg2973Ter) single nucleotide variant Pathogenic rs587784321 GRCh37 Chromosome 21, 47855982: 47855982
22 PCNT NM_006031.5(PCNT): c.1714_1717delAAAG (p.Lys572Glufs) deletion Pathogenic rs797045875 GRCh38 Chromosome 21, 46354021: 46354024
23 PCNT NM_006031.5(PCNT): c.4938_4939delAG (p.Arg1646Serfs) deletion Pathogenic rs797045879 GRCh37 Chromosome 21, 47821611: 47821612
24 PCNT NM_006031.5(PCNT): c.3166-2A> C single nucleotide variant Likely pathogenic rs774553297 GRCh37 Chromosome 21, 47801607: 47801607
25 PCNT NM_006031.5(PCNT): c.1680-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 21, 46353985: 46353985
26 PCNT NM_006031.5(PCNT): c.1975dup (p.Asp659Glyfs) duplication Pathogenic GRCh37 Chromosome 21, 47776927: 47776927
27 PCNT NM_006031.5(PCNT): c.2155-21_2186del deletion Likely pathogenic GRCh38 Chromosome 21, 46363459: 46363511
28 PCNT NM_006031.5(PCNT): c.3058A> T (p.Lys1020Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 21, 47786947: 47786947
29 PCNT NM_006031.5(PCNT): c.3880G> T (p.Glu1294Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 21, 47810624: 47810624
30 PCNT NM_006031.5(PCNT): c.5482G> T (p.Glu1828Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 21, 47831469: 47831469
31 PCNT NM_006031.5(PCNT): c.5992C> T (p.Gln1998Ter) single nucleotide variant Pathogenic rs757577162 GRCh38 Chromosome 21, 46412065: 46412065
32 PCNT NM_006031.5(PCNT): c.9715C> T (p.Gln3239Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 21, 47863737: 47863737
33 PCNT NM_006031.5(PCNT): c.7804G> T (p.Glu2602Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 21, 46430123: 46430123

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:

id Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.88 CDK5RAP2 CENPJ CEP63 CNTLN PCNT TELO2
2 cytosol GO:0005829 9.85 CDK5RAP2 CENPJ CEP63 CNTLN PCNT TELO2
3 cytoskeleton GO:0005856 9.65 CDK5RAP2 CENPJ CEP63 CNTLN PCNT
4 microtubule GO:0005874 9.5 CDK5RAP2 CENPJ PCNT
5 microtubule organizing center GO:0005815 9.46 CDK5RAP2 CENPJ CEP63 PCNT
6 spindle pole GO:0000922 9.43 CDK5RAP2 CEP63
7 centrosome GO:0005813 9.35 CDK5RAP2 CENPJ CEP63 CNTLN PCNT
8 centriole GO:0005814 8.92 CENPJ CEP63 CNTLN PCNT

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

id Name GO ID Score Top Affiliating Genes
1 G2/M transition of mitotic cell cycle GO:0000086 9.46 CDK5RAP2 CENPJ CEP63 PCNT
2 microtubule cytoskeleton organization GO:0000226 9.26 CDK5RAP2 PCNT
3 centriole replication GO:0007099 9.13 CDK5RAP2 CENPJ CEP63
4 ciliary basal body docking GO:0097711 8.92 CDK5RAP2 CENPJ CEP63 PCNT

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

id Name GO ID Score Top Affiliating Genes
1 tubulin binding GO:0015631 8.96 CDK5RAP2 CENPJ
2 protein kinase binding GO:0019901 8.92 CDK5RAP2 CENPJ CNTLN TELO2

Sources for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

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