MOPD1
MCID: MCR240
MIFTS: 54

Microcephalic Osteodysplastic Primordial Dwarfism, Type I (MOPD1)

Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal 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 57 36 13 70
Taybi-Linder Syndrome 57 12 73 20 58
Low-Birth-Weight Dwarfism with Skeletal Dysplasia 57 12 20
Brachymelic Primordial Dwarfism 57 12 20
Cephaloskeletal Dysplasia 57 12 20
Microcephalic Osteodysplastic Primordial Dwarfism Type I 12 15
Primordial Microcephalic Dwarfism, Crachami Type 20 58
Osteodysplastic Primordial Dwarfism, Type 1 29 6
Osteodysplastic Primordial Dwarfism Type I 12 20
Microcephalic Osteodysplastic Primordial Dwarfism, Taybi-Linder Type 58
Microcephalic Osteodysplastic Primordial Dwarfism Types I and Iii 58
Microcephalic Osteodysplastic Primordial Dwarfism Types 1 and 3 20
Dwarfism, Primordial, Osteodysplastic, Microcephalic, Type 1 39
Microcephalic Osteodysplastic Primordial Dwarfism Type 1 20
Osteodysplastic Primordial Dwarfism, Type I 57
Taybi-Linder Syndrome; Tals 57
Mopd Types I and Iii 58
Mopd I; Mopd 57
Mopd I 57
Mopd 1 20
Mopd1 57
Mopd 57
Tals 57

Characteristics:

Orphanet epidemiological data:

58
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®:

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

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


HPO:

31
microcephalic osteodysplastic primordial dwarfism, type i:
Onset and clinical course stillbirth
Inheritance autosomal recessive inheritance


Classifications:

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


Summaries for Microcephalic Osteodysplastic Primordial Dwarfism, Type I

GARD : 20 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 lowry-wood syndrome and roifman syndrome, 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)), and among its related pathways/superpathways are Gene Expression and mRNA Splicing - Major Pathway. Affiliated tissues include eye, bone and kidney, and related phenotypes are intellectual disability and spasticity

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

OMIM® : 57 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) (Updated 05-Apr-2021)

KEGG : 36 Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I) is a condition comprising sereve intrauterine and postnatal growth retardation, microcephaly, and skeletal anomalies. MOPD I is characterized by short and bowed long bones with enlarged metaphyses. Malformations of the central nervous system have been reported such as partial agenesis of the corpus callosum, hypoplastic frontal lobes, and vermis agenesis.

Wikipedia : 73 Primordial dwarfism (PD) is a form of dwarfism that results in a smaller body size in all stages of life... more...

Related Diseases for Microcephalic Osteodysplastic Primordial Dwarfism, Type I

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

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 lowry-wood syndrome 32.8 RNU4ATAC CLASP1
2 roifman syndrome 32.8 RNU4ATAC CLASP1
3 isolated growth hormone deficiency, type ia 29.6 U2AF1 SNU13 SNRNP48 SNRNP200 RNU6ATAC RNU4ATAC
4 microcephalic osteodysplastic primordial dwarfism, type ii 11.5
5 microcephalic osteodysplastic primordial dwarfism, type iii 11.3
6 dwarfism 10.9
7 microcephaly 10.6
8 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 10.5
9 perniosis 10.5
10 immune deficiency disease 10.4
11 alacrima, achalasia, and mental retardation syndrome 10.4
12 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.4
13 lissencephaly 10.4
14 oculocutaneous albinism 10.4
15 microlissencephaly 10.4
16 mumps 10.4
17 synostosis 10.4
18 disease of mental health 10.4
19 ventricular septal defect 10.4
20 heart septal defect 10.4
21 acute necrotizing encephalitis 10.4
22 measles 10.4
23 chickenpox 10.4
24 rubella 10.4
25 albinism 10.4
26 pachygyria 10.4
27 encephalopathy 10.4
28 neuronal migration disorders 10.4
29 laryngeal cleft 10.4
30 pseudoretinitis pigmentosa 10.2 PRPF31 PRPF3
31 cornelia de lange syndrome 3 with or without midline brain defects 10.2 RNU6ATAC RNU4ATAC
32 limited scleroderma 10.2 RNU12-2P RNU11 RNPC3
33 post-traumatic stress disorder 10.1
34 seckel syndrome 10.1
35 dendritic cell deficiency 10.1 ZRSR2 U2AF1
36 cerebral atrophy 10.1
37 retinitis pigmentosa 63 10.1 SNRNP200 PRPF31
38 poikiloderma with neutropenia 10.1 RNU6ATAC RNU4ATAC
39 odontochondrodysplasia 10.1 U2AF1 RNU6ATAC RNU4ATAC RNU12-2P
40 moyamoya disease 1 10.1
41 acute stress disorder 10.1
42 retinitis pigmentosa 31 10.0 PRPF8 PRPF31 PRPF3
43 retinitis pigmentosa 11 10.0 PRPF8 PRPF31 PRPF3
44 autosomal recessive disease 9.9
45 myelodysplastic/myeloproliferative neoplasm 9.9 ZRSR2 U2AF1
46 adjustment disorder 9.9
47 usher syndrome, type iiia 9.9 PRPF8 PRPF31 PRPF3
48 retinitis 9.9 SNRNP200 PRPF8 PRPF31 PRPF3
49 retinitis pigmentosa 18 9.9 PRPF8 PRPF4 PRPF31 PRPF3
50 retinitis pigmentosa 13 9.9 SNRNP200 PRPF8 PRPF31 PRPF3

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:

58 31 (show top 50) (show all 124)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
3 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
4 osteopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000938
5 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
6 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
7 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
8 rickets 58 31 hallmark (90%) Very frequent (99-80%) HP:0002748
9 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
10 abnormal form of the vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003312
11 prominent occiput 58 31 hallmark (90%) Very frequent (99-80%) HP:0000269
12 large iliac wings 58 31 hallmark (90%) Very frequent (99-80%) HP:0008818
13 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
14 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
15 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
16 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
17 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
18 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
19 alopecia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001596
20 muscle stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003552
21 dyspnea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002094
22 glaucoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000501
23 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
24 bilateral single transverse palmar creases 58 31 hallmark (90%) Very frequent (99-80%) HP:0007598
25 hydronephrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000126
26 bifid femur 58 31 hallmark (90%) Very frequent (99-80%) HP:0010443
27 osteomalacia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002749
28 proptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000520
29 bulbous nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000414
30 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
31 abnormally ossified vertebrae 58 31 hallmark (90%) Very frequent (99-80%) HP:0100569
32 abnormality of the metacarpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0001163
33 premature birth 58 31 hallmark (90%) Very frequent (99-80%) HP:0001622
34 large hands 58 31 hallmark (90%) Very frequent (99-80%) HP:0001176
35 long nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003189
36 respiratory failure 58 31 hallmark (90%) Very frequent (99-80%) HP:0002878
37 hydroureter 58 31 hallmark (90%) Very frequent (99-80%) HP:0000072
38 abnormality of the intervertebral disk 58 31 hallmark (90%) Very frequent (99-80%) HP:0005108
39 rigidity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002063
40 status epilepticus 58 31 hallmark (90%) Very frequent (99-80%) HP:0002133
41 short palm 58 31 hallmark (90%) Very frequent (99-80%) HP:0004279
42 posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000358
43 prominent nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000448
44 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
45 broad distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009836
46 aplasia/hypoplasia of the femur 58 31 hallmark (90%) Very frequent (99-80%) HP:0005613
47 abnormality of the pubic bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003172
48 loss of eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0011457
49 thin eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0045074
50 sparse hair 31 hallmark (90%) HP:0008070

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
agenesis of corpus callosum
pachygyria
agenesis of cerebellar vermis
mental retardation
more
Head And Neck Neck:
short neck

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

Head And Neck Face:
micrognathia
sloping forehead

Cardiovascular Heart:
atrial septal defect
tetralogy of fallot

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

Skeletal Spine:
platyspondyly
cleft vertebral arches

Genitourinary Kidneys:
renal hypoplasia
renal cysts
focal medullary hypoplasia

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

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

Growth Other:
failure to thrive
intrauterine growth retardation

Head And Neck Head:
microcephaly
prominent occiput
small anterior fontanel

Genitourinary Internal Genitalia Male:
cryptorchidism

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

Cardiovascular Vascular:
coarctation of aorta

Genitourinary External Genitalia Male:
micropenis

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

Skeletal Limbs:
elbow dislocation
enlarged metaphyses
absent knee epiphyses
knee contractures
short limbs
more
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 (Updated 05-Apr-2021)

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


seizures; dry skin

GenomeRNAi Phenotypes related to Microcephalic Osteodysplastic Primordial Dwarfism, Type I according to GeneCards Suite gene sharing:

26 (show all 41)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.28 PRPF31 SNRNP200 SNRPE SNU13 U2AF1
2 Decreased viability GR00240-S-1 10.28 SNU13
3 Decreased viability GR00249-S 10.28 PRPF31 SNRNP200 SNRPE SNU13
4 Decreased viability GR00386-A-1 10.28 SNRNP200 SNRPE SNU13
5 Decreased viability GR00402-S-2 10.28 PRPF31 SNRNP200 SNRPE SNU13 U2AF1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.19 SNRPE
7 Increased shRNA abundance (Z-score > 2) GR00366-A-111 10.19 SNU13
8 Increased shRNA abundance (Z-score > 2) GR00366-A-119 10.19 SNU13
9 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.19 U2AF1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.19 RBM10
11 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.19 SNRPE
12 Increased shRNA abundance (Z-score > 2) GR00366-A-136 10.19 U2AF1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-145 10.19 RBM10
14 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.19 RBM10
15 Increased shRNA abundance (Z-score > 2) GR00366-A-153 10.19 RBM10 SNRPE SNU13 U2AF1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.19 SNRPE
17 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.19 SNU13
18 Increased shRNA abundance (Z-score > 2) GR00366-A-174 10.19 RBM10
19 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.19 SNU13
20 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.19 SNU13
21 Increased shRNA abundance (Z-score > 2) GR00366-A-211 10.19 RBM10 U2AF1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.19 SNU13
23 Increased shRNA abundance (Z-score > 2) GR00366-A-216 10.19 SNRPE
24 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.19 SNU13
25 Increased shRNA abundance (Z-score > 2) GR00366-A-38 10.19 RBM10
26 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.19 SNRPE
27 Increased shRNA abundance (Z-score > 2) GR00366-A-53 10.19 SNRPE
28 Increased shRNA abundance (Z-score > 2) GR00366-A-64 10.19 SNU13
29 Increased shRNA abundance (Z-score > 2) GR00366-A-68 10.19 RBM10
30 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.19 RBM10
31 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.19 U2AF1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-89 10.19 RBM10 U2AF1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-90 10.19 SNRPE
34 Increased shRNA abundance (Z-score > 2) GR00366-A-91 10.19 U2AF1
35 Increased gamma-H2AX phosphorylation GR00053-A 9.86 GPKOW PRPF3 PRPF31 PRPF4 PRPF8 RNPC3
36 Decreased influenza A virus infection GR00147-A-1 9.85 PRPF31 PRPF8 SNU13
37 Decreased influenza A virus infection GR00147-A-2 9.85 PRPF31 PRPF8 SNU13
38 Decreased centriole number GR00290-A 9.71 PRPF8 SNRNP200 SNU13 U2AF1
39 Increased homologous recombination repair frequency GR00236-A-1 9.16 ZRSR2
40 Increased homologous recombination repair frequency GR00236-A-2 9.16 ZRSR2
41 Increased SMN2 exon 7 inclusion GR00254-A 8.62 RBM10 U2AF1

Drugs & Therapeutics for Microcephalic Osteodysplastic Primordial Dwarfism, Type I

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Identification of New Genes Involved in the Taybi-Linder Syndrome. Unknown status NCT03222947
2 Prospective Cohort Study on How Meniscal Lesions Affect Return to Sport After Anterior Cruciate Ligament Reconstruction in Young Non-professional Athletes Completed NCT04129827
3 The Effect of Low Field Magnetic Stimulation on Resting State Networks in Major Depressive Disorder Completed NCT01944644

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 29 RNU4ATAC

Anatomical Context for Microcephalic Osteodysplastic Primordial Dwarfism, Type I

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

40
Eye, Bone, Kidney, Brain

Publications for Microcephalic Osteodysplastic Primordial Dwarfism, Type I

Articles related to Microcephalic Osteodysplastic Primordial Dwarfism, Type I:

(show all 39)
# Title Authors PMID Year
1
Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I. 61 57 6
22581640 2012
2
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. 6 57 61
21474760 2011
3
Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. 61 57 6
21474761 2011
4
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. 6 61
26419500 2016
5
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing. 61 6
26522830 2015
6
Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene. 6 61
21815888 2012
7
The neurologic findings in Taybi-Linder syndrome (MOPD I/III): case report and review of the literature. 57 61
22302400 2012
8
A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder. 61 6
21990275 2011
9
Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome. 61 57
16773566 2006
10
Microcephalic osteodysplastic primordial dwarfism and cephalo-skeletal dysplasia (Taybi-Linder syndrome) 61 57
1605263 1992
11
Microcephalic osteodysplastic primordial dwarfism type I/III in sibs. 57 61
1770539 1991
12
[Sublethal microcephalic chondrodysplasia. Taybi-Linder syndrome, primordial microcephalic nanism types I and III]. 61 57
2327863 1990
13
[Congenital familial dwarfism with cephaloskeletal dysplasia (Taybi-Linder syndrome)]. 57 61
6721654 1984
14
The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome. 6
29265708 2018
15
Biochemical defects in minor spliceosome function in the developmental disorder MOPD I. 6
24865609 2014
16
Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases. 6
21977988 2011
17
Estimation of the inbreeding coefficient through use of genomic data. 57
12900793 2003
18
Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature. 57
12571786 2002
19
Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature. 57
9800907 1998
20
Microcephalic osteodysplastic primordial dwarfism: further evidence for identity of the so-called types I and III. 57
2063933 1991
21
Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance. 57
2282715 1990
22
Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III. 57
2764032 1989
23
Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. 57
2884728 1987
24
Osteodysplastic primordial dwarfism: report of a further patient with manifestations similar to those seen in patients with types I and III. 57
4025388 1985
25
Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome. 57
7046443 1982
26
Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism. 57
7201238 1982
27
Studies of microcephalic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles--osteodysplastic primordial dwarfism type III. 57
7201239 1982
28
[A new (brachymelic) type of primordial dwarfism (author's transl)]. 57
934161 1976
29
Congenital familial dwarfism with cephalo-skeletal dysplasia. 57
984702 1976
30
Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome. 61
33059947 2021
31
Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome. 61
27040866 2016
32
Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1). 61
27591150 2016
33
A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I. 61
25735804 2015
34
Minor class splicing shapes the zebrafish transcriptome during development. 61
24516132 2014
35
An unusual association of microcephalic osteodysplastic primordial dwarfism type I with cardiac and brain anomalies. 61
24741545 2014
36
Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I. 61
23794361 2013
37
Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III. 61
20857301 2011
38
Cephaloskeletal dysplasia (Taybi-Linder syndrome: osteodysplastic primordial dwarfism type III): report of two cases and review of the literature. 61
11009306 2000
39
Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism. 61
7783178 1995

Variations for Microcephalic Osteodysplastic Primordial Dwarfism, Type I

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

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RNU4ATAC , CLASP1 NR_023343.1(RNU4ATAC):n.51G>A SNV Pathogenic 30178 rs188343279 GRCh37: 2:122288506-122288506
GRCh38: 2:121530930-121530930
2 RNU4ATAC , CLASP1 NR_023343.1(RNU4ATAC):n.55G>A SNV Pathogenic 30179 rs575472572 GRCh37: 2:122288510-122288510
GRCh38: 2:121530934-121530934
3 RNU4ATAC , CLASP1 NM_015282.3(CLASP1):c.196-665C>T SNV Pathogenic 30181 rs763500364 GRCh37: 2:122288566-122288566
GRCh38: 2:121530990-121530990
4 RNU4ATAC , CLASP1 NM_015282.3(CLASP1):c.196-604C>G SNV Pathogenic 30182 rs181195449 GRCh37: 2:122288505-122288505
GRCh38: 2:121530929-121530929
5 RNU4ATAC , CLASP1 NM_015282.3(CLASP1):c.196-607G>C SNV Pathogenic 30183 rs180755563 GRCh37: 2:122288508-122288508
GRCh38: 2:121530932-121530932
6 RNU4ATAC , CLASP1 NR_023343.1(RNU4ATAC):n.50G>A SNV Pathogenic 30184 rs181195449 GRCh37: 2:122288505-122288505
GRCh38: 2:121530929-121530929
7 RNU4ATAC , CLASP1 NM_015282.3(CLASP1):c.196-620C>G SNV Pathogenic 39442 rs377619732 GRCh37: 2:122288521-122288521
GRCh38: 2:121530945-121530945
8 RNU4ATAC , CLASP1 NM_015282.3(CLASP1):c.196-678C>T SNV Pathogenic 39443 rs544312701 GRCh37: 2:122288579-122288579
GRCh38: 2:121531003-121531003
9 RNU4ATAC , CLASP1 NR_023343.1(RNU4ATAC):n.37G>A SNV Pathogenic 218084 rs756026847 GRCh37: 2:122288492-122288492
GRCh38: 2:121530916-121530916
10 RNU4ATAC , CLASP1 NR_023343.1(RNU4ATAC):n.29T>G SNV Likely pathogenic 977869 GRCh37: 2:122288484-122288484
GRCh38: 2:121530908-121530908
11 RNU4ATAC , CLASP1 NR_023343.1:n.30G>A SNV Likely pathogenic 30180 rs374299350 GRCh37: 2:122288485-122288485
GRCh38: 2:121530909-121530909
12 RNU4ATAC , CLASP1 NM_015282.3(CLASP1):c.196-594G>A SNV Likely pathogenic 599282 rs139495292 GRCh37: 2:122288495-122288495
GRCh38: 2:121530919-121530919
13 RNU4ATAC , CLASP1 NR_023343.1:n.30G>A SNV Likely pathogenic 30180 rs374299350 GRCh37: 2:122288485-122288485
GRCh38: 2:121530909-121530909
14 RNU4ATAC , CLASP1 NM_015282.3(CLASP1):c.196-607G>A SNV Likely pathogenic 692041 rs180755563 GRCh37: 2:122288508-122288508
GRCh38: 2:121530932-121530932
15 RNU4ATAC NM_023343.1:c.55G>A SNV Likely pathogenic 623220 GRCh37:
GRCh38:
16 RNU4ATAC , CLASP1 NR_023343.1(RNU4ATAC):n.46G>T SNV Likely pathogenic 977856 GRCh37: 2:122288501-122288501
GRCh38: 2:121530925-121530925
17 RNU4ATAC , CLASP1 NR_023343.1(RNU4ATAC):n.48G>A SNV Likely pathogenic 218085 rs863225422 GRCh37: 2:122288503-122288503
GRCh38: 2:121530927-121530927

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

Pathways related to Microcephalic Osteodysplastic Primordial Dwarfism, Type I according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.37 ZRSR2 U2AF1 SNU13 SNRPE SNRNP48 SNRNP200
2
Show member pathways
12.7 ZRSR2 U2AF1 SNU13 SNRPE SNRNP48 SNRNP200
3 10.89 ZRSR2 SNU13 SNRPE SNRNP48 SNRNP200 RNPC3

GO Terms for Microcephalic Osteodysplastic Primordial Dwarfism, Type I

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.37 ZRSR2 U2AF1 SNU13 SNRPE SNRNP48 SNRNP200
2 nucleoplasm GO:0005654 10.27 ZRSR2 U2AF1 SNU13 SNRPE SNRNP48 SNRNP200
3 nuclear speck GO:0016607 9.88 U2AF1 RBM10 PRPF8 PRPF4 PRPF31 PRPF3
4 catalytic step 2 spliceosome GO:0071013 9.76 U2AF1 SNRPE SNRNP200 PRPF8
5 U2-type precatalytic spliceosome GO:0071005 9.7 SNU13 SNRPE SNRNP200 PRPF8 PRPF4 PRPF31
6 Cajal body GO:0015030 9.67 U2AF1 PRPF4 PRPF31 PRPF3
7 U5 snRNP GO:0005682 9.65 SNRPE SNRNP200 PRPF8
8 U12-type spliceosomal complex GO:0005689 9.62 ZRSR2 SNRPE SNRNP48 RNPC3
9 precatalytic spliceosome GO:0071011 9.61 SNU13 SNRPE PRPF31
10 U2-type catalytic step 2 spliceosome GO:0071007 9.57 SNRPE PRPF8
11 small nuclear ribonucleoprotein complex GO:0030532 9.55 SNRPE PRPF8
12 U4 snRNP GO:0005687 9.54 SNRPE PRPF31
13 U2-type catalytic step 1 spliceosome GO:0071006 9.52 SNRNP200 PRPF8
14 U2AF GO:0089701 9.51 ZRSR2 U2AF1
15 U4/U6 x U5 tri-snRNP complex GO:0046540 9.5 SNU13 SNRPE SNRNP200 PRPF8 PRPF4 PRPF31
16 U4atac snRNP GO:0005690 9.43 SNU13 RNU4ATAC PRPF31
17 spliceosomal complex GO:0005681 9.4 ZRSR2 U2AF1 SNU13 SNRPE SNRNP48 SNRNP200

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

# Name GO ID Score Top Affiliating Genes
1 RNA splicing GO:0008380 9.97 ZRSR2 U2AF1 SNU13 SNRPE SNRNP48 SNRNP200
2 mRNA processing GO:0006397 9.77 ZRSR2 U2AF1 SNU13 SNRPE SNRNP48 SNRNP200
3 spliceosomal tri-snRNP complex assembly GO:0000244 9.65 RNU6ATAC RNU4ATAC PRPF8 PRPF31 PRPF3
4 RNA splicing, via transesterification reactions GO:0000375 9.54 PRPF8 PRPF4 PRPF3
5 mRNA 5'-splice site recognition GO:0000395 9.5 RNU6ATAC RNU4ATAC RNU11
6 mRNA splicing, via spliceosome GO:0000398 9.44 ZRSR2 U2AF1 SNU13 SNRPE SNRNP48 SNRNP200
7 spliceosomal complex assembly GO:0000245 9.4 ZRSR2 SNRPE

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

# Name GO ID Score Top Affiliating Genes
1 nucleic acid binding GO:0003676 9.91 ZRSR2 U2AF1 SNRNP200 RNPC3 RBM10 GPKOW
2 pre-mRNA 5'-splice site binding GO:0030627 9.43 RNU6ATAC RNU4ATAC RNU11
3 U6 snRNA binding GO:0017070 9.4 PRPF8 PRPF4
4 pre-mRNA intronic binding GO:0097157 9.37 RNPC3 PRPF8
5 RNA binding GO:0003723 9.36 ZRSR2 U2AF1 SNU13 SNRPE SNRNP200 RNPC3
6 U4 snRNA binding GO:0030621 9.33 SNU13 PRPF4 PRPF31
7 pre-mRNA 3'-splice site binding GO:0030628 9.32 ZRSR2 U2AF1
8 U4atac snRNA binding GO:0030622 9.13 SNU13 RNU6ATAC PRPF31

Sources for Microcephalic Osteodysplastic Primordial Dwarfism, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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