MOPD1
MCID: MCR240
MIFTS: 40

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 57 37 13 72
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:
Clinical modifier stillbirth
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060608
OMIM 57 210710
KEGG 37 H00993
ICD10 33 Q87.1
ICD10 via Orphanet 34 Q87.1
Orphanet 59 ORPHA2636
MedGen 42 C1859452
UMLS 72 C1859452

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 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 : 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)

KEGG : 37
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 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 dwarfism 30.7 RNU4ATAC PCNT
2 isolated growth hormone deficiency, type ia 29.8 RNU4ATAC RNPC3 PCNT
3 seckel syndrome 29.4 RNU4ATAC PCNT
4 microcephalic osteodysplastic primordial dwarfism, type ii 12.2
5 roifman syndrome 11.8
6 microcephalic osteodysplastic primordial dwarfism, type iii 11.5
7 bartter syndrome, type 2, antenatal 11.2
8 bartter syndrome, type 1, antenatal 11.2
9 bartter syndrome, type 4a, neonatal, with sensorineural deafness 11.2
10 bartter syndrome, type 3 11.2
11 bartter syndrome, type 4b, neonatal, with sensorineural deafness 11.2
12 meconium ileus 11.2
13 heart disease 11.2
14 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 10.7
15 microcephaly 10.6
16 perniosis 10.6
17 laryngeal cleft 10.5
18 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.5
19 lissencephaly 10.5
20 oculocutaneous albinism 10.5
21 synostosis 10.5
22 ventricular septal defect 10.5
23 heart septal defect 10.5
24 albinism 10.5
25 pachygyria 10.5
26 neuronal migration disorders 10.5
27 microlissencephaly 10.5
28 helix syndrome 10.5
29 lymphocytic leukemia 10.4
30 leukemia, acute lymphoblastic 10.4
31 precursor t-cell acute lymphoblastic leukemia 10.4
32 acute t cell leukemia 10.4
33 cerebral atrophy 10.3
34 moyamoya disease 1 10.3
35 leukemia 10.2
36 autosomal recessive disease 10.2
37 post-traumatic stress disorder 10.2
38 bronchiolitis 10.2
39 acute stress disorder 10.2
40 sickle cell disease 10.2
41 dubowitz syndrome 10.1
42 scoliosis 10.1
43 thrombocytosis 10.1
44 dermatitis 10.1
45 cerebrovascular disease 10.1
46 cerebral aneurysms 10.1
47 hypotonia 10.1
48 moyamoya angiopathy 10.1
49 bladder cancer 10.0
50 huntington disease 10.0

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:

59 32 (show top 50) (show all 121)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
2 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
3 osteopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000938
4 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
5 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
6 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
7 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
8 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
9 rickets 59 32 hallmark (90%) Very frequent (99-80%) HP:0002748
10 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000939
11 dyspnea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002094
12 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
13 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
14 retrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000278
15 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
16 short palm 59 32 hallmark (90%) Very frequent (99-80%) HP:0004279
17 abnormal form of the vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0003312
18 prominent occiput 59 32 hallmark (90%) Very frequent (99-80%) HP:0000269
19 large iliac wings 59 32 hallmark (90%) Very frequent (99-80%) HP:0008818
20 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
21 specific learning disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001328
22 alopecia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001596
23 muscle stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003552
24 rigidity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002063
25 loss of eyelashes 59 32 hallmark (90%) Very frequent (99-80%) HP:0011457
26 abnormality of the metacarpal bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0001163
27 absence seizure 59 32 hallmark (90%) Very frequent (99-80%) HP:0002121
28 status epilepticus 59 32 hallmark (90%) Very frequent (99-80%) HP:0002133
29 glaucoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000501
30 hydronephrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000126
31 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
32 bifid femur 59 32 hallmark (90%) Very frequent (99-80%) HP:0010443
33 respiratory failure 59 32 hallmark (90%) Very frequent (99-80%) HP:0002878
34 hypotrichosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001006
35 bilateral single transverse palmar creases 59 32 hallmark (90%) Very frequent (99-80%) HP:0007598
36 bulbous nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000414
37 osteomalacia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002749
38 proptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000520
39 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
40 premature birth 59 32 hallmark (90%) Very frequent (99-80%) HP:0001622
41 long nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003189
42 large hands 59 32 hallmark (90%) Very frequent (99-80%) HP:0001176
43 hydroureter 59 32 hallmark (90%) Very frequent (99-80%) HP:0000072
44 abnormality of the intervertebral disk 59 32 hallmark (90%) Very frequent (99-80%) HP:0005108
45 prominent nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000448
46 posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000358
47 abnormality of the pubic bone 59 32 hallmark (90%) Very frequent (99-80%) HP:0003172
48 thin eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0045074
49 broad distal phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009836
50 aplasia/hypoplasia of the femur 59 32 hallmark (90%) Very frequent (99-80%) HP:0005613

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

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Vascular:
coarctation of aorta

Genitourinary External Genitalia Male:
micropenis

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

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

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

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 Identification of New Genes Involved in the Taybi-Linder Syndrome. Unknown status 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, Eye, Kidney

Publications for Microcephalic Osteodysplastic Primordial Dwarfism, Type I

Articles related to Microcephalic Osteodysplastic Primordial Dwarfism, Type I:

(show all 36)
# Title Authors PMID Year
1
Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I. 38 8 71
22581640 2012
2
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. 38 8 71
21474760 2011
3
Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. 38 8 71
21474761 2011
4
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing. 38 71
26522830 2015
5
The neurologic findings in Taybi-Linder syndrome (MOPD I/III): case report and review of the literature. 38 8
22302400 2012
6
Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome. 38 8
16773566 2006
7
Microcephalic osteodysplastic primordial dwarfism and cephalo-skeletal dysplasia (Taybi-Linder syndrome) 38 8
1605263 1992
8
Microcephalic osteodysplastic primordial dwarfism type I/III in sibs. 38 8
1770539 1991
9
[Sublethal microcephalic chondrodysplasia. Taybi-Linder syndrome, primordial microcephalic nanism types I and III]. 38 8
2327863 1990
10
[Congenital familial dwarfism with cephaloskeletal dysplasia (Taybi-Linder syndrome)]. 38 8
6721654 1984
11
Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases. 71
21977988 2011
12
Estimation of the inbreeding coefficient through use of genomic data. 8
12900793 2003
13
Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature. 8
12571786 2002
14
Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature. 8
9800907 1998
15
Microcephalic osteodysplastic primordial dwarfism: further evidence for identity of the so-called types I and III. 8
2063933 1991
16
Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance. 8
2282715 1990
17
Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III. 8
2764032 1989
18
Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. 8
2884728 1987
19
Osteodysplastic primordial dwarfism: report of a further patient with manifestations similar to those seen in patients with types I and III. 8
4025388 1985
20
Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism. 8
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. 8
7201239 1982
22
Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome. 8
7046443 1982
23
[A new (brachymelic) type of primordial dwarfism (author's transl)]. 8
934161 1976
24
Congenital familial dwarfism with cephalo-skeletal dysplasia. 8
984702 1976
25
Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome. 38
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). 38
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. 38
26419500 2016
28
A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I. 38
25735804 2015
29
Minor class splicing shapes the zebrafish transcriptome during development. 38
24516132 2014
30
An unusual association of microcephalic osteodysplastic primordial dwarfism type I with cardiac and brain anomalies. 38
24741545 2014
31
Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I. 38
23794361 2013
32
Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene. 38
21815888 2012
33
A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder. 38
21990275 2011
34
Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III. 38
20857301 2011
35
Cephaloskeletal dysplasia (Taybi-Linder syndrome: osteodysplastic primordial dwarfism type III): report of two cases and review of the literature. 38
11009306 2000
36
Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism. 38
7783178 1995

Variations for Microcephalic Osteodysplastic Primordial Dwarfism, Type I

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

6 (show all 11)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RNU4ATAC NM_015282.3(CLASP1): c.196-665C> T single nucleotide variant Pathogenic rs763500364 2:122288566-122288566 2:121530990-121530990
2 RNU4ATAC NM_015282.3(CLASP1): c.196-604C> G single nucleotide variant Pathogenic rs181195449 2:122288505-122288505 2:121530929-121530929
3 RNU4ATAC NM_015282.3(CLASP1): c.196-607G> C single nucleotide variant Pathogenic rs180755563 2:122288508-122288508 2:121530932-121530932
4 RNU4ATAC NM_015282.3(CLASP1): c.196-604C> T single nucleotide variant Pathogenic rs181195449 2:122288505-122288505 2:121530929-121530929
5 RNU4ATAC NM_015282.3(CLASP1): c.196-620C> G single nucleotide variant Pathogenic rs377619732 2:122288521-122288521 2:121530945-121530945
6 RNU4ATAC NM_015282.3(CLASP1): c.196-678C> T single nucleotide variant Pathogenic rs544312701 2:122288579-122288579 2:121531003-121531003
7 RNU4ATAC NM_015282.3(CLASP1): c.196-605C> T single nucleotide variant Pathogenic rs188343279 2:122288506-122288506 2:121530930-121530930
8 RNU4ATAC NM_015282.3(CLASP1): c.196-609C> T single nucleotide variant Pathogenic rs575472572 2:122288510-122288510 2:121530934-121530934
9 RNU4ATAC NR_023343.1: n.30G> A single nucleotide variant Likely pathogenic rs374299350 2:122288485-122288485 2:121530909-121530909
10 RNU4ATAC NM_015282.3(CLASP1): c.196-594G> A single nucleotide variant Likely pathogenic rs139495292 2:122288495-122288495 2:121530919-121530919
11 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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