MCID: MCR240
MIFTS: 44

Microcephalic Osteodysplastic Primordial Dwarfism, Type I

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal 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 37 13 73
Taybi-Linder Syndrome 57 12 53 59
Low-Birth-Weight Dwarfism with Skeletal Dysplasia 57 12 53
Brachymelic Primordial Dwarfism 57 12 53
Cephaloskeletal Dysplasia 57 12 53
Microcephalic Osteodysplastic Primordial Dwarfism Type I 12 15
Primordial Microcephalic Dwarfism, Crachami Type 53 59
Osteodysplastic Primordial Dwarfism, Type 1 29 6
Osteodysplastic Primordial Dwarfism Type I 12 53
Microcephalic Osteodysplastic Primordial Dwarfism, Taybi-Linder Type 59
Microcephalic Osteodysplastic Primordial Dwarfism Types I and Iii 59
Microcephalic Osteodysplastic Primordial Dwarfism Types 1 and 3 53
Dwarfism, Primordial, Osteodysplastic, Microcephalic, Type 1 40
Microcephalic Osteodysplastic Primordial Dwarfism Type 1 53
Osteodysplastic Primordial Dwarfism, Type I 57
Taybi-Linder Syndrome; Tals 57
Mopd Types I and Iii 59
Mopd I; Mopd 57
Mopd I 57
Mopd 1 53
Mopd1 57
Mopd 57
Tals 57

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive

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


HPO:

32
microcephalic osteodysplastic primordial dwarfism, type i:
Mortality/Aging stillbirth
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephalic Osteodysplastic Primordial Dwarfism, Type I

NIH Rare Diseases : 53 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 malar flattening and low-set ears

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 : 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)

Related Diseases for Microcephalic Osteodysplastic Primordial Dwarfism, Type I

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

Symptoms via clinical synopsis from OMIM:

57
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

GenitourinaryInternal GenitaliaMale:
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
short limbs
elbow contractures
knee 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

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

59 32 (show top 50) (show all 119)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 frequent (33%) Frequent (79-30%) HP:0000272
2 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
3 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
4 osteopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000938
5 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
6 seizures 59 32 Very frequent (99-80%) HP:0001250
7 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
8 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
9 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
10 thick vermilion border 59 32 frequent (33%) Frequent (79-30%) HP:0012471
11 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
12 rickets 59 32 hallmark (90%) Very frequent (99-80%) HP:0002748
13 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000939
14 dyspnea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002094
15 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
16 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
17 retrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000278
18 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
19 short palm 59 32 hallmark (90%) Very frequent (99-80%) HP:0004279
20 dolichocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000268
21 abnormal form of the vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0003312
22 prominent occiput 59 32 hallmark (90%) Very frequent (99-80%) HP:0000269
23 large iliac wings 59 32 hallmark (90%) Very frequent (99-80%) HP:0008818
24 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
25 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
26 thickened nuchal skin fold 59 32 frequent (33%) Frequent (79-30%) HP:0000474
27 specific learning disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001328
28 alopecia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001596
29 rigidity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002063
30 loss of eyelashes 59 32 hallmark (90%) Very frequent (99-80%) HP:0011457
31 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
32 abnormality of the metacarpal bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0001163
33 absence seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002121
34 glaucoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000501
35 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
36 respiratory failure 59 32 hallmark (90%) Very frequent (99-80%) HP:0002878
37 hypotrichosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001006
38 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
39 bilateral single transverse palmar creases 59 32 hallmark (90%) Very frequent (99-80%) HP:0007598
40 bulbous nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000414
41 osteomalacia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002749
42 abnormality of calcium-phosphate metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0100530
43 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
44 proptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000520
45 abnormality of the tragus 59 32 frequent (33%) Frequent (79-30%) HP:0009912
46 abnormal vertebral ossification 59 32 hallmark (90%) Very frequent (99-80%) HP:0100569
47 hydronephrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000126
48 long nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003189
49 large hands 59 32 hallmark (90%) Very frequent (99-80%) HP:0001176
50 hydroureter 59 32 hallmark (90%) Very frequent (99-80%) HP:0000072

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 29 RNU4ATAC

Anatomical Context for Microcephalic Osteodysplastic Primordial Dwarfism, Type I

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

41
Brain, Bone, Skin, Kidney, Eye

Publications for Microcephalic Osteodysplastic Primordial Dwarfism, Type I

Articles related to Microcephalic Osteodysplastic Primordial Dwarfism, Type I:

# Title Authors Year
1
A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I. ( 25735804 )
2015
2
Long-term survival in microcephalic osteodysplastic primordial dwarfism type I: Evaluation of an 18-year-old male with g.55G&amp;gt;A homozygous mutation in RNU4ATAC. ( 26419500 )
2015
3
An unusual association of microcephalic osteodysplastic primordial dwarfism type I with cardiac and brain anomalies. ( 24741545 )
2014
4
Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I. ( 23794361 )
2013
5
Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I. ( 22581640 )
2012
6
Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene. ( 21815888 )
2012
7
Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III. ( 20857301 )
2011
8
A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder. ( 21990275 )
2011
9
Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III. ( 10951479 )
2000
10
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 18)
# 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(RNU4ATAC): r.30G> A single nucleotide variant Pathogenic rs374299350 GRCh37 Chromosome 2, 122288485: 122288485
6 RNU4ATAC NR_023343.1(RNU4ATAC): r.30G> A single nucleotide variant 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

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

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

# Name GO ID Score Top Affiliating Genes
1 G2/M transition of mitotic cell cycle GO:0000086 9.16 NDE1 PCNT
2 ciliary basal body-plasma membrane docking GO:0097711 8.96 NDE1 PCNT
3 regulation of G2/M transition of mitotic cell cycle GO:0010389 8.62 NDE1 PCNT

Sources for Microcephalic Osteodysplastic Primordial Dwarfism, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....