WDRTS
MCID: WDM005
MIFTS: 43

Wiedemann-Rautenstrauch Syndrome (WDRTS)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Wiedemann-Rautenstrauch Syndrome

MalaCards integrated aliases for Wiedemann-Rautenstrauch Syndrome:

Name: Wiedemann-Rautenstrauch Syndrome 57 19 42 58 75 73 71
Neonatal Pseudo-Hydrocephalic Progeroid Syndrome 42 28 5
Neonatal Progeroid Syndrome 19 42 58
Progeroid Syndrome, Neonatal 57 73
Wdrts 57 73
Congenital Pseudohydrocephalic Progeroid Syndrome 42
Neonatal Pseudohydrocephalic Progeroid Syndrome 42
Wiedemann Rautenstrauch Syndrome 19
Progeroid Syndrome Neonatal 19

Characteristics:


Inheritance:

Autosomal recessive 58 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Antenatal,Neonatal 58

Age Of Death:

adolescent,adult,early childhood,infantile,late childhood,stillbirth,young Adult 58

OMIM®:

57 (Updated 24-Oct-2022)
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


Classifications:

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


External Ids:

OMIM® 57 264090
OMIM Phenotypic Series 57 PS176670
MESH via Orphanet 44 C536423
ICD10 via Orphanet 32 E34.8
UMLS via Orphanet 72 C0406586
Orphanet 58 ORPHA3455
MedGen 40 C0406586
UMLS 71 C0406586

Summaries for Wiedemann-Rautenstrauch Syndrome

MedlinePlus Genetics: 42 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 marfanoid-progeroid-lipodystrophy syndrome and progeroid syndrome, and has symptoms including action tremor and ataxia, truncal. An important gene associated with Wiedemann-Rautenstrauch Syndrome is POLR3A (RNA Polymerase III Subunit A). Affiliated tissues include skin, bone and skeletal muscle, and related phenotypes are frontal bossing and hypertelorism

UniProtKB/Swiss-Prot: 73 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.

GARD: 19 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. 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.

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 24-Oct-2022)

Orphanet: 58 A rare multiple congenital anomalies/dysmorphic syndrome characterized by marked prenatal and postnatal growth retardation, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and an unusual face. Mild to moderate intellectual disability is common.

Wikipedia: 75 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 74)
# Related Disease Score Top Affiliating Genes
1 marfanoid-progeroid-lipodystrophy syndrome 11.3
2 progeroid syndrome 10.7
3 premature aging 10.5
4 hutchinson-gilford progeria syndrome 10.5
5 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.5
6 teeth present at birth 10.4
7 hypotrichosis 7 10.3
8 tooth agenesis 10.3
9 hypotrichosis 10.3
10 spastic ataxia 10.3
11 pelizaeus-merzbacher disease 10.2
12 entropion 10.2
13 hypothyroidism 10.1
14 hyperinsulinism 10.1
15 lipid metabolism disorder 10.1
16 hypogonadotropic hypogonadism 7 with or without anosmia 10.1
17 pelvic organ prolapse 10.1
18 chromosome 2q35 duplication syndrome 10.1
19 donohue syndrome 10.1
20 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.1
21 ataxia with vitamin e deficiency 10.1
22 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 10.1
23 congenital disorder of glycosylation, type in 10.1
24 short stature, oligodontia, dysmorphic facies, and motor delay 10.1
25 congenital generalized lipodystrophy 10.1
26 scoliosis 10.1
27 hypomyelinating leukodystrophy 10.1
28 hypogonadotropic hypogonadism 10.1
29 leukodystrophy 10.1
30 lagophthalmos 10.1
31 hypogonadism 10.1
32 hyperostosis 10.1
33 thrombocytosis 10.1
34 hereditary spastic paraplegia 10.1
35 cockayne syndrome 10.1
36 polr3-related leukodystrophy 10.1
37 type ii collagen disorders 10.1
38 bunion 10.1
39 hypotonia 10.1
40 tremor 10.1
41 gastroesophageal reflux 10.0
42 hypertriglyceridemia 1 10.0
43 keratitis, hereditary 10.0
44 laryngomalacia 10.0
45 marfan syndrome 10.0
46 osteoporosis 10.0
47 dowling-degos disease 1 10.0
48 acrodermatitis enteropathica, zinc-deficiency type 10.0
49 cryptorchidism, unilateral or bilateral 10.0
50 trichohepatoenteric syndrome 1 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 30 (show top 50) (show all 192)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002007
2 hypertelorism 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000316
3 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004322
4 lipoatrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100578
5 retrognathia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000278
6 slender build 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001533
7 narrow mouth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000160
8 upslanted palpebral fissure 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000582
9 downturned corners of mouth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002714
10 thin upper lip vermilion 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000219
11 deeply set eye 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000490
12 sparse scalp hair 58 30 Very rare (1%) Very frequent (99-80%)
HP:0002209
13 malar flattening 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000272
14 short philtrum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000322
15 pointed chin 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000307
16 broad forehead 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000337
17 convex nasal ridge 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000444
18 triangular face 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000325
19 posteriorly rotated ears 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000358
20 relative macrocephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004482
21 severe intrauterine growth retardation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008846
22 large beaked nose 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003683
23 entropion 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000621
24 natal tooth 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000695
25 progeroid facial appearance 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005328
26 congenital generalized lipodystrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009059
27 loss of facial adipose tissue 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000292
28 widely patent fontanelles and sutures 58 30 Very rare (1%) Very frequent (99-80%)
HP:0004492
29 prominent scalp veins 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001043
30 reduced subcutaneous adipose tissue 30 Very rare (1%) HP:0003758
31 spasticity 58 30 Frequent (33%) Frequent (79-30%)
HP:0001257
32 failure to thrive 58 30 Frequent (33%) Frequent (79-30%)
HP:0001508
33 hydrocephalus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000238
34 osteopenia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000938
35 cataract 58 30 Very rare (1%) Frequent (79-30%)
HP:0000518
36 global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001263
37 corneal opacity 58 30 Frequent (33%) Frequent (79-30%)
HP:0007957
38 hip dysplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001385
39 thickened calvaria 58 30 Frequent (33%) Frequent (79-30%)
HP:0002684
40 fever 58 30 Frequent (33%) Frequent (79-30%)
HP:0001945
41 hypertriglyceridemia 58 30 Occasional (7.5%) Frequent (79-30%)
HP:0002155
42 hearing abnormality 58 30 Frequent (33%) Frequent (79-30%)
HP:0000364
43 cryptorchidism 58 30 Very rare (1%) Frequent (79-30%)
HP:0000028
44 low-set ears 58 30 Very rare (1%) Frequent (79-30%)
HP:0000369
45 recurrent otitis media 58 30 Frequent (33%) Frequent (79-30%)
HP:0000403
46 hepatic steatosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001397
47 myopia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000545
48 kyphoscoliosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002751
49 myalgia 58 30 Frequent (33%) Frequent (79-30%)
HP:0003326
50 joint hypermobility 58 30 Frequent (33%) Frequent (79-30%)
HP:0001382

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Growth Other:
failure to thrive
intrauterine growth retardation
poor postnatal growth

Neurologic Central Nervous System:
hydrocephalus
hypertonia
dandy-walker malformation
chiari malformation
agenesis of the corpus callosum
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 24-Oct-2022)

UMLS symptoms related to Wiedemann-Rautenstrauch Syndrome:


action tremor; ataxia, truncal

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00251-A-1 9.23 LMNA POLR3A
2 Decreased shRNA abundance GR00251-A-2 9.23 LMNA POLR3A

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 28 POLR3A

Anatomical Context for Wiedemann-Rautenstrauch Syndrome

Organs/tissues related to Wiedemann-Rautenstrauch Syndrome:

MalaCards : Skin, Bone, Skeletal Muscle, Thymus, Eye, Heart

Publications for Wiedemann-Rautenstrauch Syndrome

Articles related to Wiedemann-Rautenstrauch Syndrome:

(show top 50) (show all 87)
# Title Authors PMID Year
1
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. 62 57 5
30414627 2018
2
Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome. 62 57 5
30323018 2018
3
Wiedemann-Rautenstrauch syndrome: A phenotype analysis. 62 57 5
28447407 2017
4
Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A. 62 57 5
27612211 2016
5
Absence of Lamin A/C gene mutations in four Wiedemann-Rautenstrauch syndrome patients. 62 57 5
19938095 2009
6
Follow-up study of Wiedemann-Rautenstrauch syndrome: long-term survival and comparison with Rautenstrauch's patient "G". 62 57 5
16007586 2005
7
Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome. 57 5
25898808 2015
8
A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2. 57 5
23696134 2013
9
Progeria: a cell culture study and clinical report of familial incidence. 57 5
319005 1977
10
Wiedemann-Rautenstrauch syndrome: report of a variant case. 62 57
22585414 2012
11
Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): report of three affected sibs. 62 57
21671373 2011
12
The Wiedemann-Rautenstrauch or neonatal progeroid syndrome: report of a patient with hypospadias. 62 57
20162872 2009
13
Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome. 62 57
17523150 2007
14
Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: report of five new cases and review. 62 57
10607952 2000
15
Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients. 62 57
9152846 1997
16
Clinical variability in neonatal progeroid syndrome. 62 57
8533814 1995
17
The Wiedemann-Rautenstrauch neonatal progeroid syndrome: a case report and review of the literature. 62 57
7551161 1995
18
Two sibs with Wiedemann-Rautenstrauch syndrome: possibilities of prenatal diagnosis by ultrasound. 62 57
1619643 1992
19
Wiedemann-Rautenstrauch syndrome. 62 57
2325106 1990
20
Neonatal progeroid syndrome: more than one disease? 62 57
2301475 1990
21
The Wiedemann-Rautenstrauch or neonatal progeroid syndrome. Neuropathological study of a case. 62 57
6200796 1984
22
A new neonatal progeroid syndrome. 62 57
7262106 1981
23
The Wiedemann-Rautenstrauch or neonatal progeroid syndrome. Report of a patient with consanguineous parents. 62 57
7262096 1981
24
An unidentified neonatal progeroid syndrome: follow-up report. 62 57
569581 1979
25
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
30450527 2018
26
[A case of hypomyelinating leukodystrophy with new homozygous mutation in POLR3A]. 5
23965854 2013
27
4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations. 5
22451160 2012
28
Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. 5
22036171 2011
29
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. 5
21855841 2011
30
Wiedemann-Rautenstrauch syndrome's fibroblasts display a normal in vitro lifespan. 57
16470741 2006
31
Relationship between donor age and the replicative lifespan of human cells in culture: a reevaluation. 57
9724752 1998
32
A Case of Wiedemann-Rautenstrauch Syndrome With Fatal Hyperkalemic Renal Faliure. 62
36159344 2022
33
Asprosin, a C-Terminal Cleavage Product of Fibrillin 1 Encoded by the FBN1 Gene, in Health and Disease. 62
35707591 2022
34
A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies. 62
34611991 2022
35
Biallelic CAV1 null variants induce congenital generalized lipodystrophy with achalasia. 62
34643546 2021
36
Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome. 62
34289880 2021
37
Two intronic cis-acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia. 62
33491183 2021
38
Wiedemann-Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A. 62
33559318 2021
39
Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann-Rautenstrauch syndrome. 62
32555393 2020
40
Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations. 62
33134517 2020
41
Nucleolar disruption, activation of P53 and premature senescence in POLR3A-mutated Wiedemann-Rautenstrauch syndrome fibroblasts. 62
32976914 2020
42
Pathophysiology of premature aging characteristics in Mendelian progeroid disorders. 62
32791128 2020
43
Fibrillin-1 and fibrillin-1-derived asprosin in adipose tissue function and metabolic disorders. 62
32279186 2020
44
A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL. 62
31695177 2020
45
Energy Regulation Mechanism and Therapeutic Potential of Asprosin. 62
32198197 2020
46
Random walk with restart on multiplex and heterogeneous biological networks. 62
30020411 2019
47
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. 62
30690919 2019
48
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. 62
29100093 2017
49
Wiedemann-Rautenstrauch Syndrome With Bilateral Tarsal Kink: Three Sutures for Correction. 62
28468175 2017
50
Ophthalmic manifestations in a case of Wiedemann-Rautenstrauch syndrome. 62
26691040 2015

Variations for Wiedemann-Rautenstrauch Syndrome

ClinVar genetic disease variations for Wiedemann-Rautenstrauch Syndrome:

5 (show all 32)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POLR3A NM_007055.4(POLR3A):c.2617C>T (p.Arg873Ter) SNV Pathogenic
235466 rs148932047 GRCh37: 10:79753125-79753125
GRCh38: 10:77993367-77993367
2 POLR3A NM_007055.4(POLR3A):c.490+1G>A SNV Pathogenic
619036 rs1564623882 GRCh37: 10:79784728-79784728
GRCh38: 10:78024970-78024970
3 POLR3A NM_007055.4(POLR3A):c.3839dup (p.Met1280fs) DUP Pathogenic
1027476 GRCh37: 10:79741237-79741238
GRCh38: 10:77981479-77981480
4 POLR3A NM_007055.4(POLR3A):c.3337-5T>A SNV Pathogenic
432594 rs368905417 GRCh37: 10:79743775-79743775
GRCh38: 10:77984017-77984017
5 POLR3A NM_007055.4(POLR3A):c.3337-1G>A SNV Pathogenic
617893 rs1041175828 GRCh37: 10:79743771-79743771
GRCh38: 10:77984013-77984013
6 POLR3A NM_007055.4(POLR3A):c.1572+1G>A SNV Pathogenic
619037 rs141484643 GRCh37: 10:79773407-79773407
GRCh38: 10:78013649-78013649
7 POLR3A NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter) SNV Pathogenic
617891 rs774007232 GRCh37: 10:79767529-79767529
GRCh38: 10:78007771-78007771
8 POLR3A NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter) SNV Pathogenic
617894 rs141659018 GRCh37: 10:79782028-79782028
GRCh38: 10:78022270-78022270
9 POLR3A NM_007055.4(POLR3A):c.3243-2A>G SNV Pathogenic
619038 rs1462460124 GRCh37: 10:79744058-79744058
GRCh38: 10:77984300-77984300
10 POLR3A NM_007055.4(POLR3A):c.1909+22G>A SNV Pathogenic
Conflicting Interpretations Of Pathogenicity
805934 rs191875469 GRCh37: 10:79769273-79769273
GRCh38: 10:78009515-78009515
11 POLR3A NM_007055.4(POLR3A):c.2617-1G>A SNV Pathogenic/Likely Pathogenic
31146 rs181087667 GRCh37: 10:79753126-79753126
GRCh38: 10:77993368-77993368
12 POLR3A NM_007055.4(POLR3A):c.3337-11T>C SNV Pathogenic/Likely Pathogenic
549559 rs1564613755 GRCh37: 10:79743781-79743781
GRCh38: 10:77984023-77984023
13 POLR3A NM_007055.4(POLR3A):c.3G>T (p.Met1Ile) SNV Pathogenic/Likely Pathogenic
549565 rs1168641193 GRCh37: 10:79789163-79789163
GRCh38: 10:78029405-78029405
14 POLR3A NM_007055.4(POLR3A):c.4003G>A (p.Gly1335Arg) SNV Likely Pathogenic
549570 rs768222183 GRCh37: 10:79739920-79739920
GRCh38: 10:77980162-77980162
15 POLR3A NM_007055.4(POLR3A):c.3206G>A (p.Arg1069Gln) SNV Likely Pathogenic
549558 rs778985686 GRCh37: 10:79744964-79744964
GRCh38: 10:77985206-77985206
16 POLR3A NM_007055.4(POLR3A):c.3392A>G (p.Lys1131Arg) SNV Likely Pathogenic
549572 rs138305578 GRCh37: 10:79743715-79743715
GRCh38: 10:77983957-77983957
17 POLR3A NM_007055.4(POLR3A):c.4073G>A (p.Gly1358Glu) SNV Likely Pathogenic
1027475 GRCh37: 10:79737336-79737336
GRCh38: 10:77977578-77977578
18 POLR3A NM_007055.4(POLR3A):c.3772_3773del (p.Leu1258fs) MICROSAT Likely Pathogenic
549563 rs1564612961 GRCh37: 10:79741304-79741305
GRCh38: 10:77981546-77981547
19 POLR3A NM_007055.4(POLR3A):c.2707G>A (p.Gly903Arg) SNV Likely Pathogenic
549566 rs1399429058 GRCh37: 10:79753035-79753035
GRCh38: 10:77993277-77993277
20 POLR3A NM_007055.4(POLR3A):c.3874G>A (p.Asp1292Asn) SNV Likely Pathogenic
549571 rs757209071 GRCh37: 10:79741203-79741203
GRCh38: 10:77981445-77981445
21 POLR3A NM_007055.4(POLR3A):c.1046_1047del (p.Gln349fs) DEL Likely Pathogenic
1341525 GRCh37: 10:79781619-79781620
GRCh38: 10:78021861-78021862
22 POLR3A NM_007055.4(POLR3A):c.1048+5G>T SNV Likely Pathogenic
549560 rs890755853 GRCh37: 10:79781613-79781613
GRCh38: 10:78021855-78021855
23 POLR3A NM_007055.4(POLR3A):c.2474C>G (p.Ser825Ter) SNV Likely Pathogenic
549561 rs1564617848 GRCh37: 10:79760738-79760738
GRCh38: 10:78000980-78000980
24 POLR3A NM_007055.4(POLR3A):c.1800C>T (p.Ile600=) SNV Likely Pathogenic
549562 rs1564620047 GRCh37: 10:79769404-79769404
GRCh38: 10:78009646-78009646
25 POLR3A NM_007055.4(POLR3A):c.*18C>T SNV Likely Pathogenic
549564 rs1248039821 GRCh37: 10:79737218-79737218
GRCh38: 10:77977460-77977460
26 POLR3A NM_007055.4(POLR3A):c.1771-7C>G SNV Likely Pathogenic
449556 rs201314157 GRCh37: 10:79769440-79769440
GRCh38: 10:78009682-78009682
27 POLR3A NM_007055.4(POLR3A):c.1909+18G>A SNV Likely Pathogenic
31144 rs267608677 GRCh37: 10:79769277-79769277
GRCh38: 10:78009519-78009519
28 POLR3A NM_007055.4(POLR3A):c.3013C>T (p.Arg1005Cys) SNV Likely Pathogenic
31149 rs267608682 GRCh37: 10:79745719-79745719
GRCh38: 10:77985961-77985961
29 POLR3A NM_007055.4(POLR3A):c.1982A>G (p.Asn661Ser) SNV Uncertain Significance
930459 rs758025995 GRCh37: 10:79767552-79767552
GRCh38: 10:78007794-78007794
30 POLR3A NM_007055.4(POLR3A):c.2988+18C>T SNV Uncertain Significance
931424 rs369684554 GRCh37: 10:79745813-79745813
GRCh38: 10:77986055-77986055
31 POLR3A NM_007055.4(POLR3A):c.1771-6C>A SNV Uncertain Significance
301067 rs115020338 GRCh37: 10:79769439-79769439
GRCh38: 10:78009681-78009681
32 POLR3A NM_007055.4(POLR3A):c.1907C>T (p.Ser636Phe) SNV Uncertain Significance
1319814 GRCh37: 10:79769297-79769297
GRCh38: 10:78009539-78009539

Expression for Wiedemann-Rautenstrauch Syndrome

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

Pathways for Wiedemann-Rautenstrauch Syndrome

GO Terms for Wiedemann-Rautenstrauch Syndrome

Sources for Wiedemann-Rautenstrauch Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
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35 IUPHAR
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38 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
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56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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