MOPD1
MCID: MCR240
MIFTS: 53

Microcephalic Osteodysplastic Primordial Dwarfism, Type I (MOPD1)

Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental 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 56 36 13 71
Taybi-Linder Syndrome 56 12 52 58
Low-Birth-Weight Dwarfism with Skeletal Dysplasia 56 12 52
Brachymelic Primordial Dwarfism 56 12 52
Cephaloskeletal Dysplasia 56 12 52
Microcephalic Osteodysplastic Primordial Dwarfism Type I 12 15
Primordial Microcephalic Dwarfism, Crachami Type 52 58
Osteodysplastic Primordial Dwarfism, Type 1 29 6
Osteodysplastic Primordial Dwarfism Type I 12 52
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 52
Dwarfism, Primordial, Osteodysplastic, Microcephalic, Type 1 39
Microcephalic Osteodysplastic Primordial Dwarfism Type 1 52
Osteodysplastic Primordial Dwarfism, Type I 56
Taybi-Linder Syndrome; Tals 56
Mopd Types I and Iii 58
Mopd I; Mopd 56
Mopd I 56
Mopd 1 52
Mopd1 56
Mopd 56
Tals 56

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:

56
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:
Clinical modifier 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

NIH Rare Diseases : 52 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 isolated growth hormone deficiency, type ia and microcephalic osteodysplastic primordial dwarfism, type ii, 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 brain, bone and skin, and related phenotypes are low-set ears and short neck

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 : 56 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)

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.

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:

(showing 90, show less)
# Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency, type ia 28.9 U2AF1 SNRNP48 SNRNP200 RNU6ATAC RNU4ATAC RNU12-2P
2 microcephalic osteodysplastic primordial dwarfism, type ii 12.2
3 roifman syndrome 11.8
4 microcephalic osteodysplastic primordial dwarfism, type iii 11.5
5 bartter syndrome, type 2, antenatal 11.2
6 bartter syndrome, type 1, antenatal 11.2
7 bartter syndrome, type 4a, neonatal, with sensorineural deafness 11.2
8 bartter syndrome, type 3 11.2
9 bartter syndrome, type 4b, neonatal, with sensorineural deafness 11.2
10 meconium ileus 11.2
11 heart disease 11.2
12 dwarfism 11.0
13 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 10.7
14 microcephaly 10.6
15 perniosis 10.6
16 laryngeal cleft 10.5
17 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.5
18 lissencephaly 10.5
19 oculocutaneous albinism 10.5
20 synostosis 10.5
21 ventricular septal defect 10.5
22 heart septal defect 10.5
23 albinism 10.5
24 pachygyria 10.5
25 neuronal migration disorders 10.5
26 microlissencephaly 10.5
27 helix syndrome 10.5
28 lymphocytic leukemia 10.4
29 leukemia, acute lymphoblastic 10.4
30 precursor t-cell acute lymphoblastic leukemia 10.4
31 seckel syndrome 10.4
32 acute t cell leukemia 10.4
33 cerebral atrophy 10.3
34 moyamoya disease 1 10.3
35 leukemia 10.3
36 osgood-schlatter's disease 10.2 RNU12-2P RNU11
37 autosomal recessive disease 10.2
38 malaria 10.2
39 post-traumatic stress disorder 10.2
40 bronchiolitis 10.2
41 acute stress disorder 10.2
42 sickle cell disease 10.2
43 syndromic x-linked intellectual disability cabezas type 10.1 RNU12-2P RNU11
44 retinitis pigmentosa 1 10.1 PRPF8 PRPF3
45 odontochondrodysplasia 10.1 U2AF1 RNU6ATAC RNU4ATAC
46 dubowitz syndrome 10.1
47 scoliosis 10.1
48 thrombocytosis 10.1
49 dermatitis 10.1
50 cerebrovascular disease 10.1
51 cerebral aneurysms 10.1
52 hypotonia 10.1
53 moyamoya angiopathy 10.1
54 bladder cancer 10.0
55 huntington disease 10.0
56 schistosoma mansoni infection, susceptibility/ 10.0
57 fragile x syndrome 10.0
58 ataxia and polyneuropathy, adult-onset 10.0
59 ovarian cancer 1 10.0
60 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 10.0
61 colitis 10.0
62 microphthalmia 10.0
63 hydrocephalus 10.0
64 respiratory failure 10.0
65 goiter 10.0
66 endemic goiter 10.0
67 clonorchiasis 10.0
68 schistosomiasis 10.0
69 benign mesothelioma 10.0
70 bronchitis 10.0
71 t-cell leukemia 10.0
72 end stage renal failure 10.0
73 diabetes insipidus 10.0
74 ovarian epithelial cancer 10.0
75 isolated growth hormone deficiency 9.9 U2AF1 RNU6ATAC RNU4ATAC RNPC3 MIR548AA1
76 retinitis pigmentosa 9 9.9 PRPF31 PRPF3
77 pseudoretinitis pigmentosa 9.8 PRPF8 PRPF31 PRPF3
78 retinitis pigmentosa 31 9.8 PRPF8 PRPF31 PRPF3
79 retinitis pigmentosa 18 9.8 PRPF8 PRPF31 PRPF3
80 retinitis pigmentosa 11 9.8 PRPF8 PRPF31 PRPF3
81 retinitis pigmentosa 63 9.8 SNRNP200 PRPF3
82 usher syndrome, type iiia 9.7 PRPF8 PRPF31 PRPF3
83 retinitis 9.6 SNRNP200 PRPF31 PRPF3
84 congenital stationary night blindness 9.5 PRPF8 PRPF31 PRPF3
85 retinal disease 9.4 PRPF8 PRPF31 PRPF3
86 retinitis pigmentosa 33 9.4 SNRNP200 PRPF8 PRPF31 PRPF3
87 retinitis pigmentosa 13 9.3 SNRNP200 PRPF8 PRPF31 PRPF3
88 fundus dystrophy 9.0 SNRNP200 RNU6ATAC RNU4ATAC PRPF8 PRPF31 PRPF3
89 mandibulofacial dysostosis, guion-almeida type 8.6 SNU13 SNRNP200 RNU4ATAC PRPF8 PRPF3 GPKOW
90 retinitis pigmentosa 8.2 U2AF1 SNU13 SNRNP200 RNU6ATAC RNU4ATAC RNU12-2P

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 (showing 121, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
2 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
3 osteopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000938
4 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
5 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
6 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
7 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
8 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
9 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
10 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
11 alopecia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001596
12 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
13 rickets 58 31 hallmark (90%) Very frequent (99-80%) HP:0002748
14 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
15 dyspnea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002094
16 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
17 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
18 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
19 short palm 58 31 hallmark (90%) Very frequent (99-80%) HP:0004279
20 abnormal form of the vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003312
21 prominent occiput 58 31 hallmark (90%) Very frequent (99-80%) HP:0000269
22 large iliac wings 58 31 hallmark (90%) Very frequent (99-80%) HP:0008818
23 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
24 muscle stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003552
25 rigidity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002063
26 loss of eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0011457
27 posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000358
28 hydronephrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000126
29 proptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000520
30 abnormality of the metacarpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0001163
31 absence seizure 58 31 hallmark (90%) Very frequent (99-80%) HP:0002121
32 status epilepticus 58 31 hallmark (90%) Very frequent (99-80%) HP:0002133
33 glaucoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000501
34 bifid femur 58 31 hallmark (90%) Very frequent (99-80%) HP:0010443
35 respiratory failure 58 31 hallmark (90%) Very frequent (99-80%) HP:0002878
36 hypotrichosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001006
37 bilateral single transverse palmar creases 58 31 hallmark (90%) Very frequent (99-80%) HP:0007598
38 bulbous nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000414
39 osteomalacia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002749
40 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
41 premature birth 58 31 hallmark (90%) Very frequent (99-80%) HP:0001622
42 long nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003189
43 large hands 58 31 hallmark (90%) Very frequent (99-80%) HP:0001176
44 hydroureter 58 31 hallmark (90%) Very frequent (99-80%) HP:0000072
45 abnormality of the intervertebral disk 58 31 hallmark (90%) Very frequent (99-80%) HP:0005108
46 prominent nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000448
47 abnormality of the pubic bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003172
48 thin eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0045074
49 broad distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009836
50 aplasia/hypoplasia of the femur 58 31 hallmark (90%) Very frequent (99-80%) HP:0005613
51 epileptic spasms 58 31 hallmark (90%) Very frequent (99-80%) HP:0011097
52 aplastic clavicle 31 hallmark (90%) HP:0006660
53 abnormally ossified vertebrae 31 hallmark (90%) HP:0100569
54 abnormal calcium-phosphate regulating hormone level 31 hallmark (90%) HP:0100530
55 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
56 thick vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0012471
57 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
58 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
59 sloping forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000340
60 dolichocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000268
61 thickened nuchal skin fold 58 31 frequent (33%) Frequent (79-30%) HP:0000474
62 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
63 abnormality of the tragus 58 31 frequent (33%) Frequent (79-30%) HP:0009912
64 bifid uvula 58 31 frequent (33%) Frequent (79-30%) HP:0000193
65 submucous cleft hard palate 58 31 frequent (33%) Frequent (79-30%) HP:0000176
66 seizures 58 31 Very frequent (99-80%) HP:0001250
67 agenesis of corpus callosum 31 HP:0001274
68 failure to thrive 31 HP:0001508
69 microtia 31 HP:0008551
70 renal cyst 31 HP:0000107
71 short metacarpal 31 HP:0010049
72 hypertonia 58 Very frequent (99-80%)
73 cleft palate 58 Frequent (79-30%)
74 hyperkeratosis 31 HP:0000962
75 dry skin 31 HP:0000958
76 platyspondyly 31 HP:0000926
77 atrial septal defect 31 HP:0001631
78 coarctation of aorta 31 HP:0001680
79 abnormality of the skeletal system 58 Very frequent (99-80%)
80 elbow flexion contracture 31 HP:0002987
81 abnormality of the pinna 31 HP:0000377
82 hip dislocation 31 HP:0002827
83 abnormality of the upper urinary tract 58 Very frequent (99-80%)
84 micropenis 31 HP:0000054
85 oligohydramnios 31 HP:0001562
86 tetralogy of fallot 31 HP:0001636
87 agenesis of cerebellar vermis 31 HP:0002335
88 hypoplasia of the frontal lobes 31 HP:0007333
89 abnormality of the kidney 58 Very frequent (99-80%)
90 renal hypoplasia 31 HP:0000089
91 elbow dislocation 31 HP:0003042
92 sparse scalp hair 31 HP:0002209
93 abnormality of calcium-phosphate metabolism 58 Very frequent (99-80%)
94 abnormality of the urinary system 58 Very frequent (99-80%)
95 abnormality of the distal phalanx of finger 58 Very frequent (99-80%)
96 abnormality of finger 58 Very frequent (99-80%)
97 shoulder flexion contracture 31 HP:0003044
98 hip contracture 31 HP:0003273
99 abnormal vertebral ossification 58 Very frequent (99-80%)
100 pachygyria 31 HP:0001302
101 prolonged neonatal jaundice 31 HP:0006579
102 single transverse palmar crease 31 HP:0000954
103 disproportionate short stature 31 HP:0003498
104 knee flexion contracture 31 HP:0006380
105 sparse eyelashes 31 HP:0000653
106 femoral bowing 31 HP:0002980
107 11 pairs of ribs 31 HP:0000878
108 small anterior fontanelle 31 HP:0000237
109 short humerus 31 HP:0005792
110 short femur 31 HP:0003097
111 limb undergrowth 31 HP:0009826
112 hypoplastic ilia 31 HP:0000946
113 aplastic clavicles 58 Very frequent (99-80%)
114 long foot 31 HP:0001833
115 long clavicles 31 HP:0000890
116 cleft vertebral arch 31 HP:0004616
117 sparse and thin eyebrow 31 HP:0000535
118 gray matter heterotopia 31 HP:0002282
119 bowed humerus 31 HP:0003865
120 enlarged metaphyses 31 HP:0003051
121 absent knee epiphyses 31 HP:0006400

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears
dysplastic ears
small ears

Neurologic Central Nervous System:
agenesis of corpus callosum
seizures
agenesis of cerebellar vermis
pachygyria
mental retardation
more
Skeletal Hands:
brachydactyly
short metacarpals
bilateral transverse palmar creases
relatively large hands

Head And Neck Face:
micrognathia
sloping forehead

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

Cardiovascular Heart:
atrial septal defect
tetralogy of fallot

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

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Skeletal Limbs:
elbow dislocation
enlarged metaphyses
absent knee epiphyses
knee contractures
short limbs
more
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

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Head:
microcephaly
prominent occiput
small anterior fontanel

Skeletal Spine:
platyspondyly
cleft vertebral arches

Cardiovascular Vascular:
coarctation of aorta

Genitourinary External Genitalia Male:
micropenis

Genitourinary Kidneys:
renal hypoplasia
renal cysts
focal medullary hypoplasia

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

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

26 (showing 12, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased influenza A virus infection GR00147-A-1 10.15 PRPF31 PRPF8 SNU13
2 Decreased influenza A virus infection GR00147-A-2 10.15 PRPF31 PRPF8 SNU13
3 Decreased viability GR00106-A-0 9.97 PRPF31 SNRNP200 SNU13 U2AF1
4 Decreased viability GR00240-S-1 9.97 SNU13
5 Decreased viability GR00402-S-2 9.97 PRPF31 SNRNP200 SNU13 U2AF1
6 FOXO1 nuclear localization GR00247-A-1 9.73 SNRNP200 SNU13 U2AF1
7 FOXO1 nuclear localization GR00247-A-2 9.73 SNRNP200 SNU13 U2AF1
8 Decreased centriole number GR00290-A 9.71 PRPF8 SNRNP200 SNU13 U2AF1
9 Increased gamma-H2AX phosphorylation GR00053-A 9.7 GPKOW PRPF3 PRPF31 PRPF8 RBMX2 RNPC3
10 Increased homologous recombination repair frequency GR00236-A-1 9.61 PRPF8 SNRNP200 SNU13 ZRSR2
11 Increased homologous recombination repair frequency GR00236-A-2 9.61 PRPF31 PRPF8 SNRNP200 SNU13 ZRSR2
12 Increased number of mitotic cells GR00098-A-3 8.8 PRPF8 SNU13 U2AF1

Drugs & Therapeutics for Microcephalic Osteodysplastic Primordial Dwarfism, Type I

Interventional clinical trials:

(showing 2, show less)
# 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 Enrolling by invitation NCT04129827

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
Brain, Bone, Skin, Eye, Kidney

Publications for Microcephalic Osteodysplastic Primordial Dwarfism, Type I

Articles related to Microcephalic Osteodysplastic Primordial Dwarfism, Type I:

(showing 36, show less)
# Title Authors PMID Year
1
Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I. 6 61 56
22581640 2012
2
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. 6 56 61
21474760 2011
3
Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. 61 56 6
21474761 2011
4
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing. 6 61
26522830 2015
5
The neurologic findings in Taybi-Linder syndrome (MOPD I/III): case report and review of the literature. 61 56
22302400 2012
6
Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome. 56 61
16773566 2006
7
Microcephalic osteodysplastic primordial dwarfism and cephalo-skeletal dysplasia (Taybi-Linder syndrome) 56 61
1605263 1992
8
Microcephalic osteodysplastic primordial dwarfism type I/III in sibs. 61 56
1770539 1991
9
[Sublethal microcephalic chondrodysplasia. Taybi-Linder syndrome, primordial microcephalic nanism types I and III]. 56 61
2327863 1990
10
[Congenital familial dwarfism with cephaloskeletal dysplasia (Taybi-Linder syndrome)]. 56 61
6721654 1984
11
Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases. 6
21977988 2011
12
Estimation of the inbreeding coefficient through use of genomic data. 56
12900793 2003
13
Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature. 56
12571786 2002
14
Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature. 56
9800907 1998
15
Microcephalic osteodysplastic primordial dwarfism: further evidence for identity of the so-called types I and III. 56
2063933 1991
16
Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance. 56
2282715 1990
17
Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III. 56
2764032 1989
18
Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. 56
2884728 1987
19
Osteodysplastic primordial dwarfism: report of a further patient with manifestations similar to those seen in patients with types I and III. 56
4025388 1985
20
Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism. 56
7201238 1982
21
Studies of microcephalic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles--osteodysplastic primordial dwarfism type III. 56
7201239 1982
22
Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome. 56
7046443 1982
23
[A new (brachymelic) type of primordial dwarfism (author's transl)]. 56
934161 1976
24
Congenital familial dwarfism with cephalo-skeletal dysplasia. 56
984702 1976
25
Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome. 61
27040866 2016
26
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
27
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. 61
26419500 2016
28
A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I. 61
25735804 2015
29
Minor class splicing shapes the zebrafish transcriptome during development. 61
24516132 2014
30
An unusual association of microcephalic osteodysplastic primordial dwarfism type I with cardiac and brain anomalies. 61
24741545 2014
31
Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I. 61
23794361 2013
32
Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene. 61
21815888 2012
33
A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder. 61
21990275 2011
34
Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III. 61
20857301 2011
35
Cephaloskeletal dysplasia (Taybi-Linder syndrome: osteodysplastic primordial dwarfism type III): report of two cases and review of the literature. 61
11009306 2000
36
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 (showing 11, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RNU4ATAC NM_015282.3(CLASP1):c.196-665C>TSNV Pathogenic 30181 rs763500364 2:122288566-122288566 2:121530990-121530990
2 RNU4ATAC NM_015282.3(CLASP1):c.196-604C>GSNV Pathogenic 30182 rs181195449 2:122288505-122288505 2:121530929-121530929
3 RNU4ATAC NM_015282.3(CLASP1):c.196-607G>CSNV Pathogenic 30183 rs180755563 2:122288508-122288508 2:121530932-121530932
4 RNU4ATAC NM_015282.3(CLASP1):c.196-604C>TSNV Pathogenic 30184 rs181195449 2:122288505-122288505 2:121530929-121530929
5 RNU4ATAC NM_015282.3(CLASP1):c.196-605C>TSNV Pathogenic 30178 rs188343279 2:122288506-122288506 2:121530930-121530930
6 RNU4ATAC NM_015282.3(CLASP1):c.196-609C>TSNV Pathogenic 30179 rs575472572 2:122288510-122288510 2:121530934-121530934
7 RNU4ATAC NM_015282.3(CLASP1):c.196-678C>TSNV Pathogenic 39443 rs544312701 2:122288579-122288579 2:121531003-121531003
8 RNU4ATAC NM_015282.3(CLASP1):c.196-620C>GSNV Pathogenic 39442 rs377619732 2:122288521-122288521 2:121530945-121530945
9 RNU4ATAC NR_023343.1:n.30G>ASNV Likely pathogenic 30180 rs374299350 2:122288485-122288485 2:121530909-121530909
10 RNU4ATAC NM_015282.3(CLASP1):c.196-594G>ASNV Likely pathogenic 599282 rs139495292 2:122288495-122288495 2:121530919-121530919
11 RNU4ATAC NM_023343.1:c.55G>ASNV Likely pathogenic 623220

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:

(showing 3, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.29 ZRSR2 U2AF1 SNU13 SNRNP48 SNRNP200 RNPC3
2
Show member pathways
12.61 ZRSR2 U2AF1 SNU13 SNRNP48 SNRNP200 RNPC3
3 10.82 ZRSR2 SNU13 SNRNP48 SNRNP200 RNPC3 PRPF8

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:

(showing 12, show less)
# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 10.18 ZRSR2 U2AF1 SNU13 SNRNP48 SNRNP200 RNPC3
2 nuclear speck GO:0016607 9.81 U2AF1 PRPF8 PRPF31 PRPF3
3 catalytic step 2 spliceosome GO:0071013 9.61 U2AF1 SNRNP200 PRPF8
4 U4/U6 x U5 tri-snRNP complex GO:0046540 9.55 SNU13 SNRNP200 PRPF8 PRPF31 PRPF3
5 Cajal body GO:0015030 9.54 U2AF1 PRPF31 PRPF3
6 U5 snRNP GO:0005682 9.49 SNRNP200 PRPF8
7 U2-type catalytic step 1 spliceosome GO:0071006 9.46 SNRNP200 PRPF8
8 U12-type spliceosomal complex GO:0005689 9.43 ZRSR2 SNRNP48 RNPC3
9 U2-type precatalytic spliceosome GO:0071005 9.43 SNU13 SNRNP200 RBMX2 PRPF8 PRPF31 PRPF3
10 U2AF GO:0089701 9.4 ZRSR2 U2AF1
11 spliceosomal complex GO:0005681 9.36 ZRSR2 U2AF1 SNU13 SNRNP48 SNRNP200 RNPC3
12 U4atac snRNP GO:0005690 9.32 SNU13 PRPF31

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

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.9 ZRSR2 U2AF1 SNU13 SNRNP48 SNRNP200 RNPC3
2 RNA splicing GO:0008380 9.7 ZRSR2 U2AF1 SNU13 SNRNP48 SNRNP200 RNPC3
3 spliceosomal tri-snRNP complex assembly GO:0000244 9.43 PRPF8 PRPF31 PRPF3
4 mRNA splicing, via spliceosome GO:0000398 9.36 ZRSR2 U2AF1 SNU13 SNRNP48 SNRNP200 RNPC3
5 RNA splicing, via transesterification reactions GO:0000375 9.32 PRPF8 PRPF3

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

(showing 6, show less)
# Name GO ID Score Top Affiliating Genes
1 nucleic acid binding GO:0003676 9.73 ZRSR2 U2AF1 SNRNP200 RNPC3 RBMX2 GPKOW
2 pre-mRNA intronic binding GO:0097157 9.37 RNPC3 PRPF8
3 pre-mRNA 3'-splice site binding GO:0030628 9.32 ZRSR2 U2AF1
4 RNA binding GO:0003723 9.32 ZRSR2 U2AF1 SNU13 SNRNP200 RNPC3 RBMX2
5 U4 snRNA binding GO:0030621 9.16 SNU13 PRPF31
6 U4atac snRNA binding GO:0030622 8.96 SNU13 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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