WDRTS
MCID: WDM005
MIFTS: 47

Wiedemann-Rautenstrauch Syndrome (WDRTS)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Wiedemann-Rautenstrauch Syndrome

MalaCards integrated aliases for Wiedemann-Rautenstrauch Syndrome:

Name: Wiedemann-Rautenstrauch Syndrome 57 74 20 43 58 73
Neonatal Pseudo-Hydrocephalic Progeroid Syndrome 43 29 6
Progeroid Syndrome, Neonatal 57 73 39
Neonatal Progeroid Syndrome 20 43 58
Wdrts 57 73
Congenital Pseudohydrocephalic Progeroid Syndrome 43
Neonatal Pseudohydrocephalic Progeroid Syndrome 43
Wiedemann Rautenstrauch Syndrome 20
Progeroid Syndrome Neonatal 20

Characteristics:

Orphanet epidemiological data:

58
wiedemann-rautenstrauch syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

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

Miscellaneous:
clinical variability
onset in utero
physical features are apparent at birth
death usually in early childhood but survival to third decade has been reported


HPO:

31
wiedemann-rautenstrauch syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Wiedemann-Rautenstrauch Syndrome

MedlinePlus Genetics : 43 Wiedemann-Rautenstrauch syndrome is a type of progeria, which is a group of genetic conditions characterized by the dramatic, rapid appearance of aging earlier in life than expected. Signs and symptoms of Wiedemann-Rautenstrauch syndrome begin before birth. Affected individuals do not grow and gain weight at the expected rate before and after birth. People with this condition have distinctive facial features that give the appearance of old age. They often have a large head, a triangular face with a prominent forehead and pointed chin, a small mouth with a thin upper lip, low-set ears, and abnormal lower eyelids. In most affected individuals, the middle of the face looks as though it has been drawn inward (midface retraction). On the head, hair is sparse and the veins stand out. Also contributing to the appearance of aging is a lack of fatty tissue under the skin (lipodystrophy), particularly in the face, arms, and legs. In addition, the skin is thin and translucent. Some affected individuals develop joint abnormalities called contractures that can limit movement.In people with Wiedemann-Rautenstrauch syndrome, the spaces (fontanelles) between the skull bones (that are noticeable as "soft spots" on the heads of infants) are larger than normal. The fontanelles normally close in early childhood, but they may remain open throughout life in people with this condition. Many affected infants are born with teeth (natal teeth), which fall out a few weeks after birth; however, some or all of their permanent (adult) teeth may never develop (hypodontia).In some individuals with Wiedemann-Rautenstrauch syndrome, movement problems, such as difficulty with coordination and balance (ataxia) or involuntary rhythmic shaking (tremor), appear in childhood and worsen over time.The life expectancy in Wiedemann-Rautenstrauch syndrome is variable. While some affected individuals do not survive past infancy, others live into young adulthood.

MalaCards based summary : Wiedemann-Rautenstrauch Syndrome, also known as neonatal pseudo-hydrocephalic progeroid syndrome, is related to progeroid syndrome and osteoporosis, and has symptoms including action tremor and ataxia, truncal. An important gene associated with Wiedemann-Rautenstrauch Syndrome is POLR3A (RNA Polymerase III Subunit A), and among its related pathways/superpathways are Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers and FGF signaling pathway. Affiliated tissues include eye, bone and heart, and related phenotypes are frontal bossing and hypertelorism

GARD : 20 Neonatal progeroid syndrome is a rare genetic syndrome characterized by an aged appearance at birth. Other signs and symptoms include intrauterine growth restriction, feeding difficulties, distinctive craniofacial features, hypotonia, developmental delay and mild to severe intellectual disability. In most cases, affected infants pass away before age 7 months, but rare reports exist of survival into the teens or early 20s. Although the exact underlying cause of neonatal progeroid syndrome is unknown, it is likely a genetic condition that is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive.

OMIM® : 57 Wiedemann-Rautenstrauch syndrome (WDRTS) is a rare autosomal recessive neonatal progeroid disorder characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment (summary by Toriello, 1990). Average survival in WDRTS is 7 months, although survival into the third decade of life has been reported (Akawi et al., 2013). (264090) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Wiedemann-Rautenstrauch syndrome: An autosomal recessive, neonatal progeroid disorder characterized by intrauterine growth retardation, failure to thrive, short stature, hypotonia, variable mental impairment, and a progeroid appearance. Clinical features include apparent macrocephaly, sparse hair, prominent scalp veins, entropion, greatly widened anterior fontanelles, malar hypoplasia, and generalized lipoatrophy. Death usually occurs in early childhood but survival to third decade has been reported.

Wikipedia : 74 Wiedemann-Rautenstrauch (WR) syndrome ([ˈviːdəman ˈʁa͜ʊtən.ʃtʁa͜ʊx]), also known as neonatal progeroid... more...

Related Diseases for Wiedemann-Rautenstrauch Syndrome

Diseases related to Wiedemann-Rautenstrauch Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 progeroid syndrome 30.9 POLR3A LMNA
2 osteoporosis 29.1 SPP1 LMNA BGLAP
3 marfanoid-progeroid-lipodystrophy syndrome 11.2
4 premature aging 10.5
5 hutchinson-gilford progeria syndrome 10.5
6 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.5
7 teeth present at birth 10.4
8 ataxia and polyneuropathy, adult-onset 10.3
9 autosomal recessive disease 10.3
10 hypotrichosis 10.3
11 pelvic organ prolapse 10.3
12 tooth agenesis 10.3
13 spastic ataxia 10.3
14 thrombocytosis 10.3
15 entropion 10.2
16 pelizaeus-merzbacher disease 10.1
17 hypothyroidism 10.1
18 hyperinsulinism 10.1
19 lipid metabolism disorder 10.1
20 chromosome 2q35 duplication syndrome 10.1
21 donohue syndrome 10.1
22 scoliosis 10.1
23 hypomyelinating leukodystrophy 10.1
24 hypogonadotropic hypogonadism 10.1
25 leukodystrophy 10.1
26 lagophthalmos 10.1
27 hypogonadism 10.1
28 hyperostosis 10.1
29 tremor 10.1
30 hypertriglyceridemia, familial 10.0
31 keratitis, hereditary 10.0
32 laryngomalacia 10.0
33 marfan syndrome 10.0
34 dowling-degos disease 1 10.0
35 acrodermatitis enteropathica, zinc-deficiency type 10.0
36 cryptorchidism, unilateral or bilateral 10.0
37 insulin-like growth factor i 10.0
38 aging 10.0
39 fontaine progeroid syndrome 10.0
40 fatty liver disease, nonalcoholic 1 10.0
41 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.0
42 aspiration pneumonia 10.0
43 organic acidemia 10.0
44 basal ganglia calcification 10.0
45 inguinal hernia 10.0
46 non-alcoholic fatty liver disease 10.0
47 blepharophimosis 10.0
48 hypospadias 10.0
49 microcephaly 10.0
50 myopia 10.0

Graphical network of the top 20 diseases related to Wiedemann-Rautenstrauch Syndrome:



Diseases related to Wiedemann-Rautenstrauch Syndrome

Symptoms & Phenotypes for Wiedemann-Rautenstrauch Syndrome

Human phenotypes related to Wiedemann-Rautenstrauch Syndrome:

58 31 (show top 50) (show all 164)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
2 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 lipoatrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100578
5 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
6 slender build 58 31 hallmark (90%) Very frequent (99-80%) HP:0001533
7 narrow mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000160
8 upslanted palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000582
9 downturned corners of mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0002714
10 thin upper lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000219
11 deeply set eye 58 31 hallmark (90%) Very frequent (99-80%) HP:0000490
12 sparse scalp hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002209
13 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
14 short philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000322
15 pointed chin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000307
16 broad forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000337
17 convex nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000444
18 triangular face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000325
19 posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000358
20 relative macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0004482
21 severe intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008846
22 large beaked nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003683
23 entropion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000621
24 natal tooth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000695
25 progeroid facial appearance 58 31 hallmark (90%) Very frequent (99-80%) HP:0005328
26 congenital generalized lipodystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0009059
27 loss of facial adipose tissue 58 31 hallmark (90%) Very frequent (99-80%) HP:0000292
28 widely patent fontanelles and sutures 58 31 hallmark (90%) Very frequent (99-80%) HP:0004492
29 prominent scalp veins 58 31 hallmark (90%) Very frequent (99-80%) HP:0001043
30 reduced subcutaneous adipose tissue 31 hallmark (90%) HP:0003758
31 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
32 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
33 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
34 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
35 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
36 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
37 corneal opacity 58 31 frequent (33%) Frequent (79-30%) HP:0007957
38 hip dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001385
39 thickened calvaria 58 31 frequent (33%) Frequent (79-30%) HP:0002684
40 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
41 hypertriglyceridemia 58 31 occasional (7.5%) Frequent (79-30%) HP:0002155
42 hearing abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000364
43 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
44 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
45 recurrent otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000403
46 hepatic steatosis 58 31 frequent (33%) Frequent (79-30%) HP:0001397
47 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
48 kyphoscoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002751
49 myalgia 58 31 frequent (33%) Frequent (79-30%) HP:0003326
50 joint hypermobility 58 31 frequent (33%) Frequent (79-30%) HP:0001382

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive
intrauterine growth retardation
poor postnatal growth

Neurologic Central Nervous System:
hydrocephalus
hypertonia
dandy-walker malformation
agenesis of the corpus callosum
delayed psychomotor development
more
Head And Neck Eyes:
hypertelorism
sparse eyelashes
downslanting palpebral fissures
deep-set eyes
upslanting palpebral fissures
more
Growth Height:
short stature

Skin Nails Hair Hair:
hypotrichosis
sparse eyelashes
sparse eyebrows

Head And Neck Teeth:
hypodontia
natal teeth
delayed eruption

Abdomen Gastrointestinal:
feeding difficulties

Skeletal Pelvis:
hypoplastic ilia
trident configuration of acetabula

Head And Neck Head:
prominent scalp veins
apparent macrocephaly

Skeletal Feet:
large feet
long toes

Skeletal:
joint contractures (in some patients)

Chest Breasts:
gynecomastia (uncommon)

Skeletal Limbs:
thin diaphyses
irregular metaphyseal endplates
long thin bones with enlarged metaphyseal endplates (1 report)

Endocrine Features:
endocrine abnormalities, variable, (uncommon)

Head And Neck Face:
frontal bossing
prominent forehead
micrognathia
pointed chin
triangular face
more
Muscle Soft Tissue:
muscle weakness
decreased subcutaneous fat
generalized muscle atrophy
generalized lipoatrophy
fat accumulation in the around the buttocks (in some patients)

Respiratory Lung:
recurrent respiratory infections

Genitourinary External Genitalia Male:
cryptorchidism

Head And Neck Mouth:
downturned corners of mouth
small mouth
thin upper vermilion

Skeletal Hands:
large hands
long fingers

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs

Skeletal Skull:
parietal bossing
pseudohydrocephalus
persistent fontanelles
widely open sutures
hypoplasia of the facial bones

Skin Nails Hair Skin:
prominent scalp veins
thin translucent skin

Abdomen:
prominent abdomen

Head And Neck Nose:
pinched nose
beak-shaped nose

Skeletal Spine:
partly unossified atlas at birth
scoliosis (in older patients)

Voice:
nasal high-pitched voice

Laboratory Abnormalities:
increased triglycerides (less common)

Clinical features from OMIM®:

264090 (Updated 05-Mar-2021)

UMLS symptoms related to Wiedemann-Rautenstrauch Syndrome:


action tremor, ataxia, truncal

MGI Mouse Phenotypes related to Wiedemann-Rautenstrauch Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 8.92 BGLAP LMNA POLR3A SPP1

Drugs & Therapeutics for Wiedemann-Rautenstrauch Syndrome

Search Clinical Trials , NIH Clinical Center for Wiedemann-Rautenstrauch Syndrome

Genetic Tests for Wiedemann-Rautenstrauch Syndrome

Genetic tests related to Wiedemann-Rautenstrauch Syndrome:

# Genetic test Affiliating Genes
1 Neonatal Pseudo-Hydrocephalic Progeroid Syndrome 29 POLR3A

Anatomical Context for Wiedemann-Rautenstrauch Syndrome

MalaCards organs/tissues related to Wiedemann-Rautenstrauch Syndrome:

40
Eye, Bone, Heart, Skeletal Muscle

Publications for Wiedemann-Rautenstrauch Syndrome

Articles related to Wiedemann-Rautenstrauch Syndrome:

(show top 50) (show all 59)
# Title Authors PMID Year
1
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. 57 6 61
30414627 2018
2
Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome. 57 6 61
30323018 2018
3
Wiedemann-Rautenstrauch syndrome: A phenotype analysis. 6 57 61
28447407 2017
4
Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A. 61 6 57
27612211 2016
5
Absence of Lamin A/C gene mutations in four Wiedemann-Rautenstrauch syndrome patients. 6 57 61
19938095 2009
6
Follow-up study of Wiedemann-Rautenstrauch syndrome: long-term survival and comparison with Rautenstrauch's patient "G". 6 61 57
16007586 2005
7
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations. 57 6
30450527 2018
8
Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome. 57 6
25898808 2015
9
A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2. 6 57
23696134 2013
10
Progeria: a cell culture study and clinical report of familial incidence. 57 6
319005 1977
11
Wiedemann-Rautenstrauch syndrome: report of a variant case. 61 57
22585414 2012
12
Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): report of three affected sibs. 57 61
21671373 2011
13
The Wiedemann-Rautenstrauch or neonatal progeroid syndrome: report of a patient with hypospadias. 57 61
20162872 2009
14
Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome. 57 61
17523150 2007
15
Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: report of five new cases and review. 57 61
10607952 2000
16
Two sibs with Wiedemann-Rautenstrauch syndrome: possibilities of prenatal diagnosis by ultrasound. 61 57
1619643 1992
17
Wiedemann-Rautenstrauch syndrome. 57 61
2325106 1990
18
Wiedemann-Rautenstrauch syndrome's fibroblasts display a normal in vitro lifespan. 57
16470741 2006
19
Relationship between donor age and the replicative lifespan of human cells in culture: a reevaluation. 57
9724752 1998
20
Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients. 57
9152846 1997
21
Clinical variability in neonatal progeroid syndrome. 57
8533814 1995
22
The Wiedemann-Rautenstrauch neonatal progeroid syndrome: a case report and review of the literature. 57
7551161 1995
23
Neonatal progeroid syndrome: more than one disease? 57
2301475 1990
24
The Wiedemann-Rautenstrauch or neonatal progeroid syndrome. Neuropathological study of a case. 57
6200796 1984
25
The Wiedemann-Rautenstrauch or neonatal progeroid syndrome. Report of a patient with consanguineous parents. 57
7262096 1981
26
A new neonatal progeroid syndrome. 57
7262106 1981
27
An unidentified neonatal progeroid syndrome: follow-up report. 57
569581 1979
28
Wiedemann-Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A. 61
33559318 2021
29
Two intronic cis-acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia. 61
33491183 2021
30
Nucleolar disruption, activation of P53 and premature senescence in POLR3A-mutated Wiedemann-Rautenstrauch syndrome fibroblasts. 61
32976914 2020
31
Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann-Rautenstrauch syndrome. 61
32555393 2020
32
Pathophysiology of premature aging characteristics in Mendelian progeroid disorders. 61
32791128 2020
33
Clinical and Laboratory Findings of Two Newborns with Wiedemann-Rautenstrauch Syndrome: Additional Features, Evaluation of Bone Turnover and Review of the Literature. 61
33600692 2020
34
A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL. 61
31695177 2020
35
POLR3A Identified as Major Locus for Autosomal Recessive Wiedemann-Rautenstrauch Syndrome: New findings show "compelling evidence" that POLR3A mutations underlie the etiology of autosomal-recessive WRS. 61
30690919 2019
36
Random walk with restart on multiplex and heterogeneous biological networks. 61
30020411 2019
37
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. 61
29100093 2017
38
Wiedemann-Rautenstrauch Syndrome With Bilateral Tarsal Kink: Three Sutures for Correction. 61
28468175 2017
39
Ophthalmic manifestations in a case of Wiedemann-Rautenstrauch syndrome. 61
26691040 2015
40
Wiedemann-Rautenstrauch syndrome prenatal diagnosis. 61
25421132 2014
41
Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene. 61
24613577 2014
42
POLR3-Related Leukodystrophy 61
22855961 2012
43
Wiedemann-Rautenstrauch syndrome: first Indian case. 61
21630068 2011
44
Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. 61
20979188 2010
45
Petty syndrome and Fontaine-Farriaux syndrome: Delineation of a single syndrome. 61
20583180 2010
46
Natural course of neonatal progeroid syndrome. 61
19579756 2009
47
Clinical and laboratory findings of two newborns with Wiedemann-Rautenstrauch syndrome: additional features, evaluation of bone turnover and review of the literature. 61
18717246 2008
48
The neonatal progeroid syndrome (Wiedemann-Rautenstrauch): a model for the study of human aging? 61
17728088 2007
49
Transient progeroid phenotype and lipodystrophy in mosaic polyploidy. 61
16317304 2006
50
In vitro osteogenic differentiation is affected in Wiedemann-Rautenstrauch-Syndrome (WRS). 61
16097434 2005

Variations for Wiedemann-Rautenstrauch Syndrome

ClinVar genetic disease variations for Wiedemann-Rautenstrauch Syndrome:

6 (show all 26)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POLR3A NM_007055.4(POLR3A):c.2617C>T (p.Arg873Ter) SNV Pathogenic 235466 rs148932047 10:79753125-79753125 10:77993367-77993367
2 POLR3A NM_007055.4(POLR3A):c.3337-5T>A SNV Pathogenic 432594 rs368905417 10:79743775-79743775 10:77984017-77984017
3 POLR3A NM_007055.4(POLR3A):c.3337-1G>A SNV Pathogenic 617893 rs1041175828 10:79743771-79743771 10:77984013-77984013
4 POLR3A NM_007055.4(POLR3A):c.490+1G>A SNV Pathogenic 619036 rs1564623882 10:79784728-79784728 10:78024970-78024970
5 POLR3A NM_007055.4(POLR3A):c.1572+1G>A SNV Pathogenic 619037 rs141484643 10:79773407-79773407 10:78013649-78013649
6 POLR3A NM_007055.4(POLR3A):c.3243-2A>G SNV Pathogenic 619038 rs1462460124 10:79744058-79744058 10:77984300-77984300
7 POLR3A NM_007055.4(POLR3A):c.1909+22G>A SNV Pathogenic 805934 rs191875469 10:79769273-79769273 10:78009515-78009515
8 POLR3A NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter) SNV Pathogenic 617891 rs774007232 10:79767529-79767529 10:78007771-78007771
9 POLR3A NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter) SNV Pathogenic 617894 rs141659018 10:79782028-79782028 10:78022270-78022270
10 POLR3A NM_007055.4(POLR3A):c.3G>T (p.Met1Ile) SNV Pathogenic/Likely pathogenic 549565 rs1168641193 10:79789163-79789163 10:78029405-78029405
11 POLR3A NM_007055.4(POLR3A):c.2617-1G>A SNV Pathogenic/Likely pathogenic 31146 rs181087667 10:79753126-79753126 10:77993368-77993368
12 POLR3A NM_007055.4(POLR3A):c.3337-11T>C SNV Pathogenic/Likely pathogenic 549559 rs1564613755 10:79743781-79743781 10:77984023-77984023
13 POLR3A NM_007055.4(POLR3A):c.1048+5G>T SNV Likely pathogenic 549560 rs890755853 10:79781613-79781613 10:78021855-78021855
14 POLR3A NM_007055.4(POLR3A):c.2474C>G (p.Ser825Ter) SNV Likely pathogenic 549561 rs1564617848 10:79760738-79760738 10:78000980-78000980
15 POLR3A NM_007055.4(POLR3A):c.1800C>T (p.Ile600=) SNV Likely pathogenic 549562 rs1564620047 10:79769404-79769404 10:78009646-78009646
16 POLR3A NM_007055.4(POLR3A):c.*18C>T SNV Likely pathogenic 549564 rs1248039821 10:79737218-79737218 10:77977460-77977460
17 POLR3A NM_007055.4(POLR3A):c.3874G>A (p.Asp1292Asn) SNV Likely pathogenic 549571 rs757209071 10:79741203-79741203 10:77981445-77981445
18 POLR3A NM_007055.4(POLR3A):c.3392A>G (p.Lys1131Arg) SNV Likely pathogenic 549572 rs138305578 10:79743715-79743715 10:77983957-77983957
19 POLR3A NM_007055.4(POLR3A):c.3770_3771CT[1] (p.Leu1258fs) Microsatellite Likely pathogenic 549563 rs1564612961 10:79741304-79741305 10:77981546-77981547
20 POLR3A NM_007055.4(POLR3A):c.2707G>A (p.Gly903Arg) SNV Likely pathogenic 549566 rs1399429058 10:79753035-79753035 10:77993277-77993277
21 POLR3A NM_007055.4(POLR3A):c.1909+18G>A SNV Likely pathogenic 31144 rs267608677 10:79769277-79769277 10:78009519-78009519
22 POLR3A NM_007055.4(POLR3A):c.3206G>A (p.Arg1069Gln) SNV Likely pathogenic 549558 rs778985686 10:79744964-79744964 10:77985206-77985206
23 POLR3A NM_007055.4(POLR3A):c.4003G>A (p.Gly1335Arg) SNV Likely pathogenic 549570 rs768222183 10:79739920-79739920 10:77980162-77980162
24 POLR3A NM_007055.4(POLR3A):c.1909+22G>A SNV Conflicting interpretations of pathogenicity 445922 rs191875469 10:79769273-79769273 10:78009515-78009515
25 POLR3A NM_007055.4(POLR3A):c.1982A>G (p.Asn661Ser) SNV Uncertain significance 930459 10:79767552-79767552 10:78007794-78007794
26 POLR3A NM_007055.4(POLR3A):c.2988+18C>T SNV Uncertain significance 931424 10:79745813-79745813 10:77986055-77986055

Expression for Wiedemann-Rautenstrauch Syndrome

Search GEO for disease gene expression data for Wiedemann-Rautenstrauch Syndrome.

Pathways for Wiedemann-Rautenstrauch Syndrome

Pathways related to Wiedemann-Rautenstrauch Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.23 SPP1 BGLAP
2 10.83 SPP1 BGLAP
3 10.61 SPP1 BGLAP
4 10.21 SPP1 BGLAP

GO Terms for Wiedemann-Rautenstrauch Syndrome

Cellular components related to Wiedemann-Rautenstrauch Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vesicle GO:0031982 8.62 SPP1 BGLAP

Biological processes related to Wiedemann-Rautenstrauch Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 9.26 SPP1 BGLAP
2 osteoblast differentiation GO:0001649 9.16 SPP1 BGLAP
3 biomineral tissue development GO:0031214 8.96 SPP1 BGLAP
4 response to vitamin D GO:0033280 8.62 SPP1 BGLAP

Molecular functions related to Wiedemann-Rautenstrauch Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 8.62 LMNA BGLAP

Sources for Wiedemann-Rautenstrauch Syndrome

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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