MOPD1
MCID: MCR240
MIFTS: 41

Microcephalic Osteodysplastic Primordial Dwarfism, Type I (MOPD1)

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 I

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

Name: Microcephalic Osteodysplastic Primordial Dwarfism, Type I 58 38 13 74
Taybi-Linder Syndrome 58 12 54 60
Low-Birth-Weight Dwarfism with Skeletal Dysplasia 58 12 54
Brachymelic Primordial Dwarfism 58 12 54
Cephaloskeletal Dysplasia 58 12 54
Microcephalic Osteodysplastic Primordial Dwarfism Type I 12 15
Primordial Microcephalic Dwarfism, Crachami Type 54 60
Osteodysplastic Primordial Dwarfism, Type 1 30 6
Osteodysplastic Primordial Dwarfism Type I 12 54
Microcephalic Osteodysplastic Primordial Dwarfism, Taybi-Linder Type 60
Microcephalic Osteodysplastic Primordial Dwarfism Types I and Iii 60
Microcephalic Osteodysplastic Primordial Dwarfism Types 1 and 3 54
Dwarfism, Primordial, Osteodysplastic, Microcephalic, Type 1 41
Microcephalic Osteodysplastic Primordial Dwarfism Type 1 54
Osteodysplastic Primordial Dwarfism, Type I 58
Taybi-Linder Syndrome; Tals 58
Mopd Types I and Iii 60
Mopd I; Mopd 58
Mopd I 58
Mopd 1 54
Mopd1 58
Mopd 58
Tals 58

Characteristics:

Orphanet epidemiological data:

60
microcephalic osteodysplastic primordial dwarfism types i and iii
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
infants are stillborn or die before age 1
death often secondary to infectious disease


HPO:

33
microcephalic osteodysplastic primordial dwarfism, type i:
Clinical modifier stillbirth
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephalic Osteodysplastic Primordial Dwarfism, Type I

NIH Rare Diseases : 54 Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) is a genetic condition that is mainly characterized by intrauterine and post-natal growth retardation; an abnormally small head size (microcephaly); abnormal bone growth (skeletal dysplasia); distinctive facial features; and brain anomalies. Other signs and symptoms include sparse hair and eyebrows; dry skin; short limbs; dislocation of the hips and elbows; seizures; and intellectual disability. It is caused by mutations in the RNU4ATAC gene and is inherited in an autosomal recessive manner. Treatment is supportive only. The prognosis is poor with most affected individuals dying within the first year of life. MOPD types 1 and 3 were originally thought to be separate entities, but more recent reports have confirmed that the two forms are part of the same syndrome.

MalaCards based summary : Microcephalic Osteodysplastic Primordial Dwarfism, Type I, also known as taybi-linder syndrome, is related to dwarfism and isolated growth hormone deficiency, type ia, and has symptoms including seizures and dry skin. An important gene associated with Microcephalic Osteodysplastic Primordial Dwarfism, Type I is RNU4ATAC (RNA, U4atac Small Nuclear (U12-Dependent Splicing)). Affiliated tissues include brain, bone and skin, and related phenotypes are low-set ears and short neck

Disease Ontology : 12 A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits.

OMIM : 58 Microcephalic osteodysplastic primordial dwarfism type I is a severe autosomal recessive skeletal dysplasia characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular/auditory sensory deficits. Patients often die in early childhood (summary by Pierce and Morse, 2012). (210710)

Related Diseases for Microcephalic Osteodysplastic Primordial Dwarfism, Type I

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 I via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 dwarfism 31.3 PCNT RNU4ATAC
2 isolated growth hormone deficiency, type ia 30.7 PCNT RNPC3 RNU4ATAC
3 seckel syndrome 29.5 PCNT RNU4ATAC
4 microcephalic osteodysplastic primordial dwarfism, type ii 11.7
5 microcephalic osteodysplastic primordial dwarfism, type iii 11.4
6 bartter syndrome, type 2, antenatal 11.1
7 bartter syndrome, type 1, antenatal 11.1
8 bartter syndrome, type 4a, neonatal, with sensorineural deafness 11.1
9 bartter syndrome, type 3 11.1
10 bartter syndrome, type 4b, neonatal, with sensorineural deafness 11.1
11 meconium ileus 11.1
12 heart disease 11.1
13 polycythemia vera 10.6
14 neuronal migration disorders 10.5
15 leukemia 10.3
16 leukemia, acute lymphoblastic 10.2
17 lymphocytic leukemia 10.2
18 acute t cell leukemia 10.2
19 post-traumatic stress disorder 10.1
20 roifman syndrome 10.0
21 dubowitz syndrome 10.0
22 moyamoya disease 1 10.0
23 cerebrovascular disease 10.0
24 asthma 10.0
25 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 10.0
26 dengue shock syndrome 10.0
27 colitis 10.0
28 bronchiolitis 10.0
29 t-cell leukemia 10.0
30 sickle cell disease 10.0
31 meier-gorlin syndrome 1 9.8 PCNT RNU4ATAC

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



Diseases related to Microcephalic Osteodysplastic Primordial Dwarfism, Type I

Symptoms & Phenotypes for Microcephalic Osteodysplastic Primordial Dwarfism, Type I

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

60 33 (show top 50) (show all 121)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000369
2 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
3 osteopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000938
4 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
5 spasticity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001257
6 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
7 delayed skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002750
8 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
9 rickets 60 33 hallmark (90%) Very frequent (99-80%) HP:0002748
10 osteoporosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000939
11 dyspnea 60 33 hallmark (90%) Very frequent (99-80%) HP:0002094
12 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
13 abnormality of the metaphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000944
14 retrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000278
15 micromelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002983
16 short palm 60 33 hallmark (90%) Very frequent (99-80%) HP:0004279
17 abnormal form of the vertebral bodies 60 33 hallmark (90%) Very frequent (99-80%) HP:0003312
18 prominent occiput 60 33 hallmark (90%) Very frequent (99-80%) HP:0000269
19 large iliac wings 60 33 hallmark (90%) Very frequent (99-80%) HP:0008818
20 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
21 specific learning disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001328
22 alopecia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001596
23 muscle stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0003552
24 rigidity 60 33 hallmark (90%) Very frequent (99-80%) HP:0002063
25 loss of eyelashes 60 33 hallmark (90%) Very frequent (99-80%) HP:0011457
26 abnormality of the metacarpal bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0001163
27 absence seizure 60 33 hallmark (90%) Very frequent (99-80%) HP:0002121
28 status epilepticus 60 33 hallmark (90%) Very frequent (99-80%) HP:0002133
29 glaucoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000501
30 respiratory failure 60 33 hallmark (90%) Very frequent (99-80%) HP:0002878
31 hypotrichosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001006
32 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
33 bilateral single transverse palmar creases 60 33 hallmark (90%) Very frequent (99-80%) HP:0007598
34 bulbous nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0000414
35 osteomalacia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002749
36 severe short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0003510
37 proptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000520
38 hydronephrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000126
39 long nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003189
40 large hands 60 33 hallmark (90%) Very frequent (99-80%) HP:0001176
41 hydroureter 60 33 hallmark (90%) Very frequent (99-80%) HP:0000072
42 premature birth 60 33 hallmark (90%) Very frequent (99-80%) HP:0001622
43 abnormality of the intervertebral disk 60 33 hallmark (90%) Very frequent (99-80%) HP:0005108
44 prominent nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0000448
45 broad distal phalanx of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009836
46 posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000358
47 bifid femur 60 33 hallmark (90%) Very frequent (99-80%) HP:0010443
48 abnormality of the pubic bone 60 33 hallmark (90%) Very frequent (99-80%) HP:0003172
49 thin eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0045074
50 aplasia/hypoplasia of the femur 60 33 hallmark (90%) Very frequent (99-80%) HP:0005613

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
dysplastic ears
small ears

Neurologic Central Nervous System:
agenesis of corpus callosum
seizures
pachygyria
agenesis of cerebellar vermis
mental retardation
more
Head And Neck Head:
microcephaly
prominent occiput
small anterior fontanel

Skin Nails Hair Skin:
hyperkeratosis
dry skin
bilateral transverse palmar creases

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Vascular:
coarctation of aorta

Skeletal Hands:
brachydactyly
short metacarpals
bilateral transverse palmar creases
relatively large hands

Genitourinary Kidneys:
renal hypoplasia
renal cysts
focal medullary hypoplasia

Genitourinary External Genitalia Male:
micropenis

Skin Nails Hair Hair:
sparse eyelashes
sparse eyebrows
sparse-absent scalp hair

Prenatal Manifestations Delivery:
stillbirth

Growth Height:
short stature, disproportionate

Abdomen Liver:
neonatal cholestasis

Skeletal Feet:
relatively large feet

Head And Neck Neck:
short neck

Growth Other:
failure to thrive
intrauterine growth retardation

Head And Neck Face:
micrognathia
sloping forehead

Skeletal Spine:
platyspondyly
cleft vertebral arches

Cardiovascular Heart:
atrial septal defect
tetralogy of fallot

Skeletal Pelvis:
hip dislocation
hypoplastic ilia
hip contractures
horizontal iliac wings

Skeletal Limbs:
elbow dislocation
knee contractures
short limbs
elbow contractures
shoulder contractures
more
Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Head And Neck Eyes:
sparse eyelashes
sparse eyebrows
prominent eyes

Chest Ribs Sternum Clavicles And Scapulae:
11 pairs of ribs
long clavicles

Skeletal:
delayed bone age
contractures

Head And Neck Nose:
large, fleshy nose

Skeletal Skull:
steep skull base

Clinical features from OMIM:

210710

UMLS symptoms related to Microcephalic Osteodysplastic Primordial Dwarfism, Type I:


seizures, dry skin

Drugs & Therapeutics for Microcephalic Osteodysplastic Primordial Dwarfism, Type I

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 New Variants Involved in Taybi-Linder Syndrome Not yet recruiting NCT03222947

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

Genetic Tests for Microcephalic Osteodysplastic Primordial Dwarfism, Type I

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

# Genetic test Affiliating Genes
1 Osteodysplastic Primordial Dwarfism, Type 1 30 RNU4ATAC

Anatomical Context for Microcephalic Osteodysplastic Primordial Dwarfism, Type I

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

42
Brain, Bone, Skin, Eye, Kidney, T Cells, Heart

Publications for Microcephalic Osteodysplastic Primordial Dwarfism, Type I

Articles related to Microcephalic Osteodysplastic Primordial Dwarfism, Type I:

(show all 18)
# Title Authors Year
1
Long-term survival in microcephalic osteodysplastic primordial dwarfism type I: Evaluation of an 18-year-old male with g.55G>A homozygous mutation in RNU4ATAC. ( 26419500 )
2016
2
Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome. ( 27040866 )
2016
3
A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I. ( 25735804 )
2015
4
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing. ( 26522830 )
2015
5
An unusual association of microcephalic osteodysplastic primordial dwarfism type I with cardiac and brain anomalies. ( 24741545 )
2014
6
Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I. ( 23794361 )
2013
7
Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene. ( 21815888 )
2012
8
Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I. ( 22581640 )
2012
9
The neurologic findings in Taybi-Linder syndrome (MOPD I/III): case report and review of the literature. ( 22302400 )
2012
10
Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III. ( 20857301 )
2011
11
A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder. ( 21990275 )
2011
12
Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases. ( 21977988 )
2011
13
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. ( 21474760 )
2011
14
Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. ( 21474761 )
2011
15
Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome. ( 16773566 )
2006
16
Cephaloskeletal dysplasia (Taybi-Linder syndrome: osteodysplastic primordial dwarfism type III): report of two cases and review of the literature. ( 11009306 )
2000
17
Microcephalic osteodysplastic primordial dwarfism and cephalo-skeletal dysplasia (Taybi-Linder syndrome) ( 1605263 )
1992
18
Microcephalic osteodysplastic primordial dwarfism type I/III in sibs. ( 1770539 )
1991

Variations for Microcephalic Osteodysplastic Primordial Dwarfism, Type I

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

6 (show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 RNU4ATAC NR_023343.1(RNU4ATAC): n.51G> A single nucleotide variant Pathogenic rs188343279 GRCh37 Chromosome 2, 122288506: 122288506
2 RNU4ATAC NR_023343.1(RNU4ATAC): n.51G> A single nucleotide variant Pathogenic rs188343279 GRCh38 Chromosome 2, 121530930: 121530930
3 RNU4ATAC NR_023343.1(RNU4ATAC): n.55G> A single nucleotide variant Pathogenic rs575472572 GRCh37 Chromosome 2, 122288510: 122288510
4 RNU4ATAC NR_023343.1(RNU4ATAC): n.55G> A single nucleotide variant Pathogenic rs575472572 GRCh38 Chromosome 2, 121530934: 121530934
5 RNU4ATAC NR_023343.1: n.30G> A single nucleotide variant Likely pathogenic rs374299350 GRCh37 Chromosome 2, 122288485: 122288485
6 RNU4ATAC NR_023343.1: n.30G> A single nucleotide variant Likely pathogenic rs374299350 GRCh38 Chromosome 2, 121530909: 121530909
7 RNU4ATAC NR_023343.1(RNU4ATAC): n.111G> A single nucleotide variant Pathogenic rs763500364 GRCh37 Chromosome 2, 122288566: 122288566
8 RNU4ATAC NR_023343.1(RNU4ATAC): n.111G> A single nucleotide variant Pathogenic rs763500364 GRCh38 Chromosome 2, 121530990: 121530990
9 RNU4ATAC NR_023343.1(RNU4ATAC): n.50G> C single nucleotide variant Pathogenic rs181195449 GRCh37 Chromosome 2, 122288505: 122288505
10 RNU4ATAC NR_023343.1(RNU4ATAC): n.50G> C single nucleotide variant Pathogenic rs181195449 GRCh38 Chromosome 2, 121530929: 121530929
11 RNU4ATAC NR_023343.1(RNU4ATAC): n.53C> G single nucleotide variant Pathogenic rs180755563 GRCh37 Chromosome 2, 122288508: 122288508
12 RNU4ATAC NR_023343.1(RNU4ATAC): n.53C> G single nucleotide variant Pathogenic rs180755563 GRCh38 Chromosome 2, 121530932: 121530932
13 RNU4ATAC NR_023343.1(RNU4ATAC): n.50G> A single nucleotide variant Pathogenic rs181195449 GRCh37 Chromosome 2, 122288505: 122288505
14 RNU4ATAC NR_023343.1(RNU4ATAC): n.50G> A single nucleotide variant Pathogenic rs181195449 GRCh38 Chromosome 2, 121530929: 121530929
15 RNU4ATAC NR_023343.1(RNU4ATAC): n.66G> C single nucleotide variant Pathogenic rs377619732 GRCh37 Chromosome 2, 122288521: 122288521
16 RNU4ATAC NR_023343.1(RNU4ATAC): n.66G> C single nucleotide variant Pathogenic rs377619732 GRCh38 Chromosome 2, 121530945: 121530945
17 RNU4ATAC NR_023343.1(RNU4ATAC): n.124G> A single nucleotide variant Pathogenic rs544312701 GRCh37 Chromosome 2, 122288579: 122288579
18 RNU4ATAC NR_023343.1(RNU4ATAC): n.124G> A single nucleotide variant Pathogenic rs544312701 GRCh38 Chromosome 2, 121531003: 121531003
19 RNU4ATAC NR_023343.1(RNU4ATAC): n.40C> T single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 122288495: 122288495
20 RNU4ATAC NR_023343.1(RNU4ATAC): n.40C> T single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 121530919: 121530919
21 RNU4ATAC NM_023343.1: c.55G> A single nucleotide variant Likely pathogenic

Expression for Microcephalic Osteodysplastic Primordial Dwarfism, Type I

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

Pathways for Microcephalic Osteodysplastic Primordial Dwarfism, Type I

GO Terms for Microcephalic Osteodysplastic Primordial Dwarfism, Type I

Sources for Microcephalic Osteodysplastic Primordial Dwarfism, Type I

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