MOPD2
MCID: MCR258
MIFTS: 47

Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii (MOPD2)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Oral 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 37 13 40
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii 12 25 15
Microcephalic Osteodysplastic Primordial Dwarfism Type 2 53 29 6
Majewski Osteodysplastic Primordial Dwarfism Type Ii 12 53 25
Mopd2 57 25 75
Osteodysplastic Primordial Dwarfism Type Ii 12 25
Osteodysplastic Primordial Dwarfism Type 2 53 75
Mopd Ii 57 53
Microcephalic Osteodysplastic Primordial Dwarfism with Tooth Abnormalities 53
Microcephalic Osteodysplastic Primordial Dwarfism 2 75
Osteodysplastic Primordial Dwarfism, Type Ii 57
Mopd 2 53
Mopdii 25

Characteristics:

OMIM:

57
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 microcephalic osteodysplastic primordial dwarfism type ii, is related to isolated growth hormone deficiency, type ia and seckel syndrome. An important gene associated with Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii is PCNT (Pericentrin), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include bone, brain and skin, and related phenotypes are low-set ears and abnormality of epiphysis morphology

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.

NIH Rare Diseases : 53 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)

UniProtKB/Swiss-Prot : 75 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 I family:

Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 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 all 22)
# Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency, type ia 31.5 CNTLN PCNT
2 seckel syndrome 29.3 CENPJ CNTLN PCNT TELO2
3 dwarfism 11.1
4 moyamoya disease 1 10.6
5 schizophrenia 10.5
6 dubowitz syndrome 10.5
7 craniosynostosis 10.5
8 cerebrovascular disease 10.5
9 microcephaly 17, primary, autosomal recessive 10.0 CDK5RAP2 CENPJ
10 microcephaly 12, primary, autosomal recessive 10.0 CDK5RAP2 CENPJ
11 primary autosomal recessive microcephaly 10.0 CDK5RAP2 CENPJ
12 microcephaly 18, primary, autosomal dominant 9.9 CDK5RAP2 CENPJ
13 congenital nervous system abnormality 9.9 CDK5RAP2 CENPJ
14 physical disorder 9.9 CDK5RAP2 CENPJ
15 primary microcephaly 9.8 CDK5RAP2 CENPJ
16 seckel syndrome 4 9.7 CENPJ CNTLN PCNT
17 microcephaly 3, primary, autosomal recessive 9.7 CDK5RAP2 CENPJ CNTLN
18 microcephaly 6, primary, autosomal recessive 9.7 CDK5RAP2 CENPJ CNTLN
19 microcephaly 4, primary, autosomal recessive 9.7 CDK5RAP2 CENPJ CNTLN
20 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 9.7 CDK5RAP2 CENPJ CNTLN
21 microcephaly 5, primary, autosomal recessive 9.7 CDK5RAP2 CENPJ CNTLN
22 microcephaly 7, primary, autosomal recessive 9.7 CDK5RAP2 CENPJ CNTLN

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:

57
Head And Neck Head:
microcephaly

Growth Other:
intrauterine growth retardation
postnatal growth retardation, severe

Skeletal Hands:
brachydactyly
fifth finger clinodactyly
short distal phalanges
short first metacarpals
metacarpal pseudoepiphyses
more
Skeletal Pelvis:
coxa vara
small iliac wings
high, narrow pelvis
flat acetabular angles

Skeletal Limbs:
metaphyseal flaring
short, bowed tibiae
short bowed radii
short bowed ulnae
v-shaped flaring of distal femoral metaphyses
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

Head And Neck Face:
retrognathia
sloping forehead

Genitourinary External Genitalia Male:
hypospadias

Skin Nails Hair Hair:
sparse scalp hair

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

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

32 (show top 50) (show all 85)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 frequent (33%) HP:0000369
2 abnormality of epiphysis morphology 32 hallmark (90%) HP:0005930
3 precocious puberty 32 occasional (7.5%) HP:0000826
4 intellectual disability 32 occasional (7.5%) HP:0001249
5 seizures 32 occasional (7.5%) HP:0001250
6 scoliosis 32 frequent (33%) HP:0002650
7 global developmental delay 32 occasional (7.5%) HP:0001263
8 recurrent respiratory infections 32 occasional (7.5%) HP:0002205
9 delayed skeletal maturation 32 hallmark (90%) HP:0002750
10 type ii diabetes mellitus 32 HP:0005978
11 wide nasal bridge 32 frequent (33%) HP:0000431
12 microtia 32 HP:0008551
13 microcephaly 32 hallmark (90%) HP:0000252
14 sensorineural hearing impairment 32 frequent (33%) HP:0000407
15 laryngomalacia 32 occasional (7.5%) HP:0001601
16 full cheeks 32 frequent (33%) HP:0000293
17 anemia 32 occasional (7.5%) HP:0001903
18 abnormality of the metaphysis 32 hallmark (90%) HP:0000944
19 retrognathia 32 frequent (33%) HP:0000278
20 narrow chest 32 occasional (7.5%) HP:0000774
21 patent ductus arteriosus 32 occasional (7.5%) HP:0001643
22 micromelia 32 hallmark (90%) HP:0002983
23 joint hyperflexibility 32 frequent (33%) HP:0005692
24 cone-shaped epiphysis 32 occasional (7.5%) HP:0010579
25 microdontia 32 occasional (7.5%) HP:0000691
26 dry skin 32 frequent (33%) HP:0000958
27 attention deficit hyperactivity disorder 32 occasional (7.5%) HP:0007018
28 intrauterine growth retardation 32 hallmark (90%) HP:0001511
29 postnatal growth retardation 32 HP:0008897
30 atrial septal defect 32 occasional (7.5%) HP:0001631
31 hypopigmented skin patches 32 frequent (33%) HP:0001053
32 ventriculomegaly 32 occasional (7.5%) HP:0002119
33 prominent nasal bridge 32 HP:0000426
34 underdeveloped nasal alae 32 frequent (33%) HP:0000430
35 hypoplastic iliac wing 32 hallmark (90%) HP:0002866
36 hypospadias 32 HP:0000047
37 clinodactyly of the 5th finger 32 hallmark (90%) HP:0004209
38 downslanted palpebral fissures 32 occasional (7.5%) HP:0000494
39 multiple cafe-au-lait spots 32 frequent (33%) HP:0007565
40 upslanted palpebral fissure 32 HP:0000582
41 brachydactyly 32 hallmark (90%) HP:0001156
42 nasal speech 32 hallmark (90%) HP:0001611
43 sparse scalp hair 32 HP:0002209
44 fine hair 32 hallmark (90%) HP:0002213
45 reduced number of teeth 32 hallmark (90%) HP:0009804
46 tracheal stenosis 32 occasional (7.5%) HP:0002777
47 stroke 32 occasional (7.5%) HP:0001297
48 arterial stenosis 32 occasional (7.5%) HP:0100545
49 pseudoepiphyses of the metacarpals 32 HP:0009193
50 short distal phalanx of finger 32 HP:0009882

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 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:

# Genetic test Affiliating Genes
1 Microcephalic Osteodysplastic Primordial Dwarfism Type 2 29 PCNT

Anatomical Context for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

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

41
Bone, Brain, Skin, Eye, Heart

Publications for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

Articles related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii:

(show all 24)
# Title Authors Year
1
Novel biallelic PCNT deletion causing microcephalic osteodysplastic primordial dwarfism type II with congenital heart defect. ( 29961235 )
2018
2
Schizophrenia in microcephalic osteodysplastic primordial dwarfism type II syndrome: supporting evidence for an association between the PCNT gene and schizophrenia. ( 30531648 )
2018
3
Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review. ( 28409412 )
2017
4
Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II. ( 28940990 )
2017
5
Erratum to: Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review. ( 28712007 )
2017
6
Nicolas Ferry (1741-1764), the court dwarf of King Stanislas, probably suffered from microcephalic osteodysplastic primordial dwarfism type II (MOPD II). ( 27241249 )
2016
7
Multiple vascular malformations in a patient with microcephalic osteodysplastic primordial dwarfism type ii. ( 26059803 )
2015
8
Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms. ( 26231886 )
2015
9
A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report. ( 24928221 )
2014
10
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome. ( 24973050 )
2014
11
Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis. ( 24106199 )
2014
12
Screening for cerebrovascular disease in microcephalic osteodysplastic primordial dwarfism type II (MOPD II): an evidence-based proposal. ( 23498563 )
2013
13
&amp;quot;Ocular moyamoya&amp;quot; syndrome in a patient with features of microcephalic osteodysplastic primordial dwarfism type II. ( 23337351 )
2013
14
Cranial vault remodeling in microcephalic osteodysplastic primordial dwarfism type II and craniosynostosis. ( 22948629 )
2012
15
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. ( 19643772 )
2010
16
Multiple intracranial aneurysms and moyamoya disease associated with microcephalic osteodysplastic primordial dwarfism type II: surgical considerations. ( 19877776 )
2009
17
Cutaneous features associated with microcephalic osteodysplastic primordial dwarfism type II. ( 18577061 )
2008
18
Neurologic aspects of microcephalic osteodysplastic primordial dwarfism type II. ( 18486828 )
2008
19
Microcephalic osteodysplastic primordial dwarfism type II: a child with café au lait lesions, cutis marmorata, and moyamoya disease. ( 15211667 )
2004
20
A 17-month-old with extreme prenatal-onset growth delay. Microcephalic osteodysplastic primordial dwarfism type II. ( 11131353 )
2000
21
Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review. ( 9800908 )
1998
22
Case report. Microcephalic osteodysplastic primordial dwarfism type II: a child with unusual symptoms and clinical course. ( 8874115 )
1996
23
Microcephalic osteodysplastic primordial dwarfism type II. ( 7551160 )
1995
24
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 top 50) (show all 209)
# 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.658G> T (p.Glu220Ter) single nucleotide variant Pathogenic rs119479061 GRCh38 Chromosome 21, 46346146: 46346146
3 PCNT NM_006031.5(PCNT): c.1887delA (p.Ala630Hisfs) deletion Pathogenic rs397509366 GRCh37 Chromosome 21, 47775492: 47775492
4 PCNT NM_006031.5(PCNT): c.1887delA (p.Ala630Hisfs) deletion Pathogenic rs397509366 GRCh38 Chromosome 21, 46355577: 46355577
5 PCNT NM_006031.5(PCNT): c.3568dupT (p.Cys1190Leufs) duplication Pathogenic rs397514033 GRCh37 Chromosome 21, 47808760: 47808760
6 PCNT NM_006031.5(PCNT): c.3568dupT (p.Cys1190Leufs) duplication Pathogenic rs397514033 GRCh38 Chromosome 21, 46388845: 46388845
7 PCNT NM_006031.5(PCNT): c.5767C> T (p.Arg1923Ter) single nucleotide variant Pathogenic rs119479062 GRCh37 Chromosome 21, 47831754: 47831754
8 PCNT NM_006031.5(PCNT): c.5767C> T (p.Arg1923Ter) single nucleotide variant Pathogenic rs119479062 GRCh38 Chromosome 21, 46411840: 46411840
9 PCNT PCNT, 1-BP INS, 841G insertion Pathogenic
10 PCNT NM_006031.5(PCNT): c.3109G> T (p.Glu1037Ter) single nucleotide variant Pathogenic rs119479063 GRCh37 Chromosome 21, 47786998: 47786998
11 PCNT NM_006031.5(PCNT): c.3109G> T (p.Glu1037Ter) single nucleotide variant Pathogenic rs119479063 GRCh38 Chromosome 21, 46367083: 46367083
12 PCNT PCNT, 486-BP DEL, NT84 deletion Pathogenic
13 PCNT NM_006031.5(PCNT): c.8752C> T (p.Arg2918Ter) single nucleotide variant Pathogenic rs119479064 GRCh37 Chromosome 21, 47855817: 47855817
14 PCNT NM_006031.5(PCNT): c.8752C> T (p.Arg2918Ter) single nucleotide variant Pathogenic rs119479064 GRCh38 Chromosome 21, 46435904: 46435904
15 PCNT PCNT, GLN1280HIS single nucleotide variant Pathogenic
16 PCNT PCNT, 3-BP DEL, 9460AAG deletion Pathogenic
17 PCNT NM_006031.5(PCNT): c.3460G> T (p.Glu1154Ter) single nucleotide variant Pathogenic rs387906928 GRCh37 Chromosome 21, 47805894: 47805894
18 PCNT NM_006031.5(PCNT): c.3460G> T (p.Glu1154Ter) single nucleotide variant Pathogenic rs387906928 GRCh38 Chromosome 21, 46385979: 46385979
19 PCNT PCNT, 1-BP INS, 1527A insertion Pathogenic
20 PCNT NM_006031.5(PCNT): c.720+17T> C single nucleotide variant Benign rs9982233 GRCh37 Chromosome 21, 47766139: 47766139
21 PCNT NM_006031.5(PCNT): c.720+17T> C single nucleotide variant Benign rs9982233 GRCh38 Chromosome 21, 46346225: 46346225
22 PCNT NM_006031.5(PCNT): c.8752-5A> C single nucleotide variant Benign rs149444205 GRCh37 Chromosome 21, 47855812: 47855812
23 PCNT NM_006031.5(PCNT): c.8752-5A> C single nucleotide variant Benign rs149444205 GRCh38 Chromosome 21, 46435899: 46435899
24 PCNT NM_006031.5(PCNT): c.196G> T (p.Gly66Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587779355 GRCh37 Chromosome 21, 47746432: 47746432
25 PCNT NM_006031.5(PCNT): c.196G> T (p.Gly66Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587779355 GRCh38 Chromosome 21, 46326518: 46326518
26 PCNT NM_006031.5(PCNT): c.8671G> A (p.Ala2891Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs33956783 GRCh37 Chromosome 21, 47852049: 47852049
27 PCNT NM_006031.5(PCNT): c.8671G> A (p.Ala2891Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs33956783 GRCh38 Chromosome 21, 46432135: 46432135
28 PCNT NM_006031.5(PCNT): c.6384A> G (p.Thr2128=) single nucleotide variant Benign rs60444527 GRCh37 Chromosome 21, 47836216: 47836216
29 PCNT NM_006031.5(PCNT): c.6384A> G (p.Thr2128=) single nucleotide variant Benign rs60444527 GRCh38 Chromosome 21, 46416302: 46416302
30 PCNT NM_006031.5(PCNT): c.55-5C> T single nucleotide variant Uncertain significance rs587784310 GRCh37 Chromosome 21, 47746286: 47746286
31 PCNT NM_006031.5(PCNT): c.55-5C> T single nucleotide variant Uncertain significance rs587784310 GRCh38 Chromosome 21, 46326372: 46326372
32 PCNT NM_006031.5(PCNT): c.244G> A (p.Ala82Thr) single nucleotide variant Uncertain significance rs143870030 GRCh37 Chromosome 21, 47746480: 47746480
33 PCNT NM_006031.5(PCNT): c.244G> A (p.Ala82Thr) single nucleotide variant Uncertain significance rs143870030 GRCh38 Chromosome 21, 46326566: 46326566
34 PCNT NM_006031.5(PCNT): c.336T> C (p.His112=) single nucleotide variant Uncertain significance rs59157477 GRCh37 Chromosome 21, 47754379: 47754379
35 PCNT NM_006031.5(PCNT): c.336T> C (p.His112=) single nucleotide variant Uncertain significance rs59157477 GRCh38 Chromosome 21, 46334465: 46334465
36 PCNT NM_006031.5(PCNT): c.339T> A (p.Pro113=) single nucleotide variant Uncertain significance rs59662841 GRCh37 Chromosome 21, 47754382: 47754382
37 PCNT NM_006031.5(PCNT): c.339T> A (p.Pro113=) single nucleotide variant Uncertain significance rs59662841 GRCh38 Chromosome 21, 46334468: 46334468
38 PCNT NM_006031.5(PCNT): c.427C> T (p.Arg143Cys) single nucleotide variant Uncertain significance rs201176638 GRCh37 Chromosome 21, 47754470: 47754470
39 PCNT NM_006031.5(PCNT): c.427C> T (p.Arg143Cys) single nucleotide variant Uncertain significance rs201176638 GRCh38 Chromosome 21, 46334556: 46334556
40 PCNT NM_006031.5(PCNT): c.445A> T (p.Ser149Cys) single nucleotide variant Uncertain significance rs111737555 GRCh37 Chromosome 21, 47754488: 47754488
41 PCNT NM_006031.5(PCNT): c.445A> T (p.Ser149Cys) single nucleotide variant Uncertain significance rs111737555 GRCh38 Chromosome 21, 46334574: 46334574
42 PCNT NM_006031.5(PCNT): c.467_505del39 (p.His156_Gln168del) deletion Likely benign rs587784306 GRCh37 Chromosome 21, 47754510: 47754548
43 PCNT NM_006031.5(PCNT): c.467_505del39 (p.His156_Gln168del) deletion Likely benign rs587784306 GRCh38 Chromosome 21, 46334596: 46334634
44 PCNT NM_006031.5(PCNT): c.721-7G> A single nucleotide variant Benign rs2839217 GRCh37 Chromosome 21, 47766650: 47766650
45 PCNT NM_006031.5(PCNT): c.721-7G> A single nucleotide variant Benign rs2839217 GRCh38 Chromosome 21, 46346736: 46346736
46 PCNT NM_006031.5(PCNT): c.931G> A (p.Ala311Thr) single nucleotide variant Uncertain significance rs140196457 GRCh37 Chromosome 21, 47766867: 47766867
47 PCNT NM_006031.5(PCNT): c.931G> A (p.Ala311Thr) single nucleotide variant Uncertain significance rs140196457 GRCh38 Chromosome 21, 46346953: 46346953
48 PCNT NM_006031.5(PCNT): c.1040A> G (p.Lys347Arg) single nucleotide variant Uncertain significance rs80166001 GRCh37 Chromosome 21, 47768933: 47768933
49 PCNT NM_006031.5(PCNT): c.1040A> G (p.Lys347Arg) single nucleotide variant Uncertain significance rs80166001 GRCh38 Chromosome 21, 46349019: 46349019
50 PCNT NM_006031.5(PCNT): c.1468C> T (p.Gln490Ter) single nucleotide variant Pathogenic rs181690344 GRCh37 Chromosome 21, 47773029: 47773029

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 cytosol GO:0005829 9.77 CDK5RAP2 CENPJ CNTLN PCNT TELO2
2 cytoskeleton GO:0005856 9.56 CDK5RAP2 CENPJ CNTLN PCNT
3 microtubule organizing center GO:0005815 9.5 CDK5RAP2 CENPJ PCNT
4 microtubule GO:0005874 9.33 CDK5RAP2 CENPJ PCNT
5 centriole GO:0005814 9.13 CENPJ CNTLN PCNT
6 centrosome GO:0005813 8.92 CDK5RAP2 CENPJ CNTLN PCNT

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

# Name GO ID Score Top Affiliating Genes
1 G2/M transition of mitotic cell cycle GO:0000086 9.33 CDK5RAP2 CENPJ PCNT
2 microtubule cytoskeleton organization GO:0000226 9.32 CDK5RAP2 PCNT
3 centriole replication GO:0007099 9.26 CDK5RAP2 CENPJ
4 ciliary basal body-plasma membrane docking GO:0097711 9.13 CDK5RAP2 CENPJ PCNT
5 regulation of G2/M transition of mitotic cell cycle GO:0010389 8.8 CDK5RAP2 CENPJ PCNT

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 9.26 CDK5RAP2 PCNT
2 protein-containing complex scaffold activity GO:0032947 9.16 PCNT TELO2
3 tubulin binding GO:0015631 8.96 CDK5RAP2 CENPJ
4 protein kinase binding GO:0019901 8.92 CDK5RAP2 CENPJ CNTLN TELO2

Sources for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

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