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 56 74 52 25 58 73
Neonatal Pseudo-Hydrocephalic Progeroid Syndrome 25 29 6
Progeroid Syndrome, Neonatal 56 73 39
Neonatal Progeroid Syndrome 52 25 58
Wdrts 56 73
Congenital Pseudohydrocephalic Progeroid Syndrome 25
Neonatal Pseudohydrocephalic Progeroid Syndrome 25
Wiedemann Rautenstrauch Syndrome 52
Progeroid Syndrome Neonatal 52

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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

Genetics Home Reference : 25 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 hypogonadism, 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 FGF signaling pathway and Transcription_Role of VDR in regulation of genes involved in osteoporosis. Affiliated tissues include bone, skin and eye, and related phenotypes are malar flattening and hypertelorism

NIH Rare Diseases : 52 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 : 56 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)

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 (['vi?d?man '?a??t?n.?t?a??x]), 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 87)
# Related Disease Score Top Affiliating Genes
1 progeroid syndrome 30.8 POLR3A LMNA
2 hypogonadism 29.5 POLR3A LMNA
3 osteoporosis 28.6 SPP1 LMNA BGLAP
4 marfanoid-progeroid-lipodystrophy syndrome 11.6
5 premature aging 10.7
6 hutchinson-gilford progeria syndrome 10.6
7 teeth present at birth 10.6
8 autosomal recessive disease 10.5
9 hypotrichosis 10.5
10 ataxia and polyneuropathy, adult-onset 10.4
11 tooth agenesis 10.4
12 pelvic organ prolapse 10.3
13 chromosome 2q35 duplication syndrome 10.3
14 donohue syndrome 10.3
15 spastic ataxia 10.3
16 scoliosis 10.3
17 hypomyelinating leukodystrophy 10.3
18 hypogonadotropic hypogonadism 10.3
19 leukodystrophy 10.3
20 lagophthalmos 10.3
21 hyperostosis 10.3
22 thrombocytosis 10.3
23 hypogonadotropism 10.3
24 tremor 10.3
25 entropion 10.2
26 pelizaeus-merzbacher disease 10.1
27 hypothyroidism 10.1
28 hyperinsulinism 10.1
29 lipid metabolism disorder 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 hydrocephalus, congenital, 1 10.0
38 insulin-like growth factor i 10.0
39 aging 10.0
40 fontaine progeroid syndrome 10.0
41 fatty liver disease, nonalcoholic 1 10.0
42 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.0
43 alkuraya-kucinskas syndrome 10.0
44 aspiration pneumonia 10.0
45 organic acidemia 10.0
46 basal ganglia calcification 10.0
47 inguinal hernia 10.0
48 blepharophimosis 10.0
49 hypospadias 10.0
50 microcephaly 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 162)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
2 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 lipoatrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100578
6 short philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000322
7 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
8 narrow mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000160
9 broad forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000337
10 deeply set eye 58 31 hallmark (90%) Very frequent (99-80%) HP:0000490
11 thin upper lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000219
12 posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000358
13 upslanted palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000582
14 downturned corners of mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0002714
15 slender build 58 31 hallmark (90%) Very frequent (99-80%) HP:0001533
16 hypotrichosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001006
17 sparse scalp hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002209
18 pointed chin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000307
19 convex nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000444
20 triangular face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000325
21 relative macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0004482
22 severe intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008846
23 large beaked nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003683
24 entropion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000621
25 widely patent fontanelles and sutures 58 31 hallmark (90%) Very frequent (99-80%) HP:0004492
26 natal tooth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000695
27 progeroid facial appearance 58 31 hallmark (90%) Very frequent (99-80%) HP:0005328
28 prominent scalp veins 58 31 hallmark (90%) Very frequent (99-80%) HP:0001043
29 loss of facial adipose tissue 58 31 hallmark (90%) Very frequent (99-80%) HP:0000292
30 congenital generalized lipodystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0009059
31 reduced subcutaneous adipose tissue 31 hallmark (90%) HP:0003758
32 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
33 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
34 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
35 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
36 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
37 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
38 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
39 corneal opacity 58 31 frequent (33%) Frequent (79-30%) HP:0007957
40 hip dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001385
41 thickened calvaria 58 31 frequent (33%) Frequent (79-30%) HP:0002684
42 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
43 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
44 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
45 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
46 hypertriglyceridemia 58 31 occasional (7.5%) Frequent (79-30%) HP:0002155
47 acanthosis nigricans 58 31 frequent (33%) Frequent (79-30%) HP:0000956
48 thin skin 58 31 frequent (33%) Frequent (79-30%) HP:0000963
49 hearing abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000364
50 myalgia 58 31 frequent (33%) Frequent (79-30%) HP:0003326

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
sparse eyelashes
downslanting palpebral fissures
deep-set eyes
upslanting palpebral fissures
more
Growth Other:
failure to thrive
intrauterine growth retardation
poor postnatal growth

Muscle Soft Tissue:
muscle weakness
decreased subcutaneous fat
generalized muscle atrophy
generalized lipoatrophy
fat accumulation in the suprabuttock area (in some patients)

Growth Height:
short stature

Genitourinary External Genitalia Male:
cryptorchidism

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

Head And Neck Teeth:
hypodontia
natal teeth
delayed eruption

Skeletal Pelvis:
hypoplastic ilia
trident configuration of acetabula

Skin Nails Hair Skin:
prominent scalp veins
thin translucent skin

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
micrognathia
pointed chin
triangular face
mandibular hypoplasia
more
Neurologic Central Nervous System:
hydrocephalus
hypertonia
dandy-walker malformation
agenesis of the corpus callosum
delayed psychomotor development
more
Respiratory Lung:
recurrent respiratory infections

Abdomen Gastrointestinal:
feeding difficulties

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs

Skin Nails Hair Hair:
hypotrichosis
sparse eyelashes
sparse eyebrows

Skeletal Hands:
large hands
long fingers

Head And Neck Head:
prominent scalp veins
apparent macrocephaly

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

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

UMLS symptoms related to Wiedemann-Rautenstrauch Syndrome:


action tremor, ataxia, truncal

Drugs & Therapeutics for Wiedemann-Rautenstrauch Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Asprosin Dynamics Relating to Serum Glucose Levels Under Controlled Alteration Completed NCT03358121

Search 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
Bone, Skin, Eye, Heart, Skeletal Muscle, Liver

Publications for Wiedemann-Rautenstrauch Syndrome

Articles related to Wiedemann-Rautenstrauch Syndrome:

(show top 50) (show all 54)
# Title Authors PMID Year
1
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. 61 56 6
30414627 2018
2
Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome. 61 56 6
30323018 2018
3
Wiedemann-Rautenstrauch syndrome: A phenotype analysis. 61 56 6
28447407 2017
4
Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A. 61 56 6
27612211 2016
5
Absence of Lamin A/C gene mutations in four Wiedemann-Rautenstrauch syndrome patients. 61 56 6
19938095 2009
6
Follow-up study of Wiedemann-Rautenstrauch syndrome: long-term survival and comparison with Rautenstrauch's patient "G". 61 56 6
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. 56 6
30450527 2018
8
Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome. 56 6
25898808 2015
9
A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2. 56 6
23696134 2013
10
Progeria: a cell culture study and clinical report of familial incidence. 56 6
319005 1977
11
Wiedemann-Rautenstrauch syndrome: report of a variant case. 61 56
22585414 2012
12
Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): report of three affected sibs. 61 56
21671373 2011
13
The Wiedemann-Rautenstrauch or neonatal progeroid syndrome: report of a patient with hypospadias. 61 56
20162872 2009
14
Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome. 61 56
17523150 2007
15
Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: report of five new cases and review. 61 56
10607952 2000
16
Two sibs with Wiedemann-Rautenstrauch syndrome: possibilities of prenatal diagnosis by ultrasound. 61 56
1619643 1992
17
Wiedemann-Rautenstrauch syndrome. 61 56
2325106 1990
18
Wiedemann-Rautenstrauch syndrome's fibroblasts display a normal in vitro lifespan. 56
16470741 2006
19
Relationship between donor age and the replicative lifespan of human cells in culture: a reevaluation. 56
9724752 1998
20
Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients. 56
9152846 1997
21
Clinical variability in neonatal progeroid syndrome. 56
8533814 1995
22
The Wiedemann-Rautenstrauch neonatal progeroid syndrome: a case report and review of the literature. 56
7551161 1995
23
Neonatal progeroid syndrome: more than one disease? 56
2301475 1990
24
The Wiedemann-Rautenstrauch or neonatal progeroid syndrome. Neuropathological study of a case. 56
6200796 1984
25
The Wiedemann-Rautenstrauch or neonatal progeroid syndrome. Report of a patient with consanguineous parents. 56
7262096 1981
26
A new neonatal progeroid syndrome. 56
7262106 1981
27
An unidentified neonatal progeroid syndrome: follow-up report. 56
569581 1979
28
A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL. 61
31695177 2019
29
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
30
Random walk with restart on multiplex and heterogeneous biological networks. 61
30020411 2019
31
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. 61
29100093 2017
32
Wiedemann-Rautenstrauch Syndrome With Bilateral Tarsal Kink: Three Sutures for Correction. 61
28468175 2017
33
Ophthalmic manifestations in a case of Wiedemann-Rautenstrauch syndrome. 61
26691040 2015
34
Wiedemann-Rautenstrauch syndrome prenatal diagnosis. 61
25421132 2014
35
Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene. 61
24613577 2014
36
POLR3-Related Leukodystrophy 61
22855961 2012
37
Wiedemann-Rautenstrauch syndrome: first Indian case. 61
21630068 2011
38
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
39
Petty syndrome and Fontaine-Farriaux syndrome: Delineation of a single syndrome. 61
20583180 2010
40
Natural course of neonatal progeroid syndrome. 61
19579756 2009
41
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
42
The neonatal progeroid syndrome (Wiedemann-Rautenstrauch): a model for the study of human aging? 61
17728088 2007
43
Transient progeroid phenotype and lipodystrophy in mosaic polyploidy. 61
16317304 2006
44
In vitro osteogenic differentiation is affected in Wiedemann-Rautenstrauch-Syndrome (WRS). 61
16097434 2005
45
What syndrome is this? Wiedemann-Rautenstrauch syndrome. 61
15660904 2005
46
[Kyphoscoliosis in Wiedemann-Rautenstrauch-syndrome (neonatal progeroid syndrome)]. 61
12822084 2003
47
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). 61
12768443 2003
48
[Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): case report and review of the literature]. 61
10812556 2000
49
Severe prenatal growth retardation, dysmorphic features, pigmentary retinopathy, and generalized absence of subcutaneous tissues: a new entity? 61
9823492 1998
50
Wiedemann-Rautenstrauch syndrome. A case report and review of the literature. 61
9664208 1998

Variations for Wiedemann-Rautenstrauch Syndrome

ClinVar genetic disease variations for Wiedemann-Rautenstrauch Syndrome:

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

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 10.83 SPP1 BGLAP
2 10.61 SPP1 BGLAP
3 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 osteoblast differentiation GO:0001649 9.16 SPP1 BGLAP
2 biomineral tissue development GO:0031214 8.96 SPP1 BGLAP
3 response to vitamin D GO:0033280 8.62 SPP1 BGLAP

Sources for Wiedemann-Rautenstrauch Syndrome

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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