WDRTS
MCID: WDM005
MIFTS: 46

Wiedemann-Rautenstrauch Syndrome (WDRTS)

Categories: Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Mental 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 75 53 25 59 74
Neonatal Pseudo-Hydrocephalic Progeroid Syndrome 25 29 6
Progeroid Syndrome, Neonatal 57 74 40
Neonatal Progeroid Syndrome 53 25 59
Wdrts 57 74
Congenital Pseudohydrocephalic Progeroid Syndrome 25
Neonatal Pseudohydrocephalic Progeroid Syndrome 25
Wiedemann Rautenstrauch Syndrome 53
Progeroid Syndrome Neonatal 53

Characteristics:

Orphanet epidemiological data:

59
wiedemann-rautenstrauch syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
wiedemann-rautenstrauch syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

MESH via Orphanet 45 C536423
ICD10 via Orphanet 34 E34.8
UMLS via Orphanet 73 C0406586
Orphanet 59 ORPHA3455
MedGen 42 C0406586

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 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), 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 skin, bone and eye, and related phenotypes are malar flattening and hypertelorism

NIH Rare Diseases : 53 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)

UniProtKB/Swiss-Prot : 74 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 : 75 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 72)
# Related Disease Score Top Affiliating Genes
1 marfanoid-progeroid-lipodystrophy syndrome 11.6
2 progeroid syndrome 10.7
3 premature aging 10.7
4 hutchinson-gilford progeria syndrome 10.6
5 teeth present at birth 10.6
6 autosomal recessive disease 10.5
7 hypotrichosis 10.5
8 ataxia and polyneuropathy, adult-onset 10.4
9 pelvic organ prolapse 10.3
10 chromosome 2q35 duplication syndrome 10.3
11 donohue syndrome 10.3
12 tooth agenesis 10.3
13 spastic ataxia 10.3
14 scoliosis 10.3
15 hypomyelinating leukodystrophy 10.3
16 hypogonadotropic hypogonadism 10.3
17 leukodystrophy 10.3
18 lagophthalmos 10.3
19 hypogonadism 10.3
20 thrombocytosis 10.3
21 hypogonadotropism 10.3
22 collagenopathy type 2 alpha 1 10.3
23 tremor 10.3
24 entropion 10.2
25 pelizaeus-merzbacher disease 10.1
26 hypothyroidism 10.1
27 hyperinsulinism 10.1
28 lipid metabolism disorder 10.1
29 hypertriglyceridemia, familial 10.0
30 keratitis, hereditary 10.0
31 laryngomalacia 10.0
32 marfan syndrome 10.0
33 osteoporosis 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 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:

59 32 (show top 50) (show all 161)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
3 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
4 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
5 lipoatrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100578
6 short philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000322
7 retrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000278
8 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
9 broad forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000337
10 deeply set eye 59 32 hallmark (90%) Very frequent (99-80%) HP:0000490
11 slender build 59 32 hallmark (90%) Very frequent (99-80%) HP:0001533
12 upslanted palpebral fissure 59 32 hallmark (90%) Very frequent (99-80%) HP:0000582
13 hypotrichosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001006
14 downturned corners of mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0002714
15 thin upper lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000219
16 sparse scalp hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002209
17 pointed chin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000307
18 convex nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000444
19 triangular face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000325
20 posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000358
21 relative macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0004482
22 severe intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0008846
23 large beaked nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003683
24 progeroid facial appearance 59 32 hallmark (90%) Very frequent (99-80%) HP:0005328
25 entropion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000621
26 widely patent fontanelles and sutures 59 32 hallmark (90%) Very frequent (99-80%) HP:0004492
27 natal tooth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000695
28 prominent scalp veins 59 32 hallmark (90%) Very frequent (99-80%) HP:0001043
29 loss of facial adipose tissue 59 32 hallmark (90%) Very frequent (99-80%) HP:0000292
30 congenital generalized lipodystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009059
31 reduced subcutaneous adipose tissue 32 hallmark (90%) HP:0003758
32 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
33 hydrocephalus 59 32 frequent (33%) Frequent (79-30%) HP:0000238
34 osteopenia 59 32 frequent (33%) Frequent (79-30%) HP:0000938
35 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
36 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
37 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
38 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
39 hip dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001385
40 corneal opacity 59 32 frequent (33%) Frequent (79-30%) HP:0007957
41 thickened calvaria 59 32 frequent (33%) Frequent (79-30%) HP:0002684
42 fever 59 32 frequent (33%) Frequent (79-30%) HP:0001945
43 hypertriglyceridemia 59 32 occasional (7.5%) Frequent (79-30%) HP:0002155
44 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
45 acanthosis nigricans 59 32 frequent (33%) Frequent (79-30%) HP:0000956
46 thin skin 59 32 frequent (33%) Frequent (79-30%) HP:0000963
47 hearing abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000364
48 myalgia 59 32 frequent (33%) Frequent (79-30%) HP:0003326
49 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
50 recurrent otitis media 59 32 frequent (33%) Frequent (79-30%) HP:0000403

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
sparse eyelashes
downslanting palpebral fissures
deep-set eyes
upslanting palpebral fissures
more
Neurologic Central Nervous System:
hydrocephalus
hypertonia
dandy-walker malformation
agenesis of the corpus callosum
delayed psychomotor development
more
Growth Other:
failure to thrive
intrauterine growth retardation
poor postnatal growth

Growth Height:
short stature

Genitourinary External Genitalia Male:
cryptorchidism

Skin Nails Hair Hair:
hypotrichosis
sparse eyelashes
sparse eyebrows

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

Respiratory Lung:
recurrent respiratory infections

Abdomen Gastrointestinal:
feeding difficulties

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs

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

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:

41
Skin, Bone, Eye, Heart, Skeletal Muscle

Publications for Wiedemann-Rautenstrauch Syndrome

Articles related to Wiedemann-Rautenstrauch Syndrome:

(show top 50) (show all 53)
# Title Authors PMID Year
1
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. 38 8 71
30414627 2018
2
Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome. 38 8 71
30323018 2018
3
Wiedemann-Rautenstrauch syndrome: A phenotype analysis. 38 8 71
28447407 2017
4
Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A. 38 8 71
27612211 2016
5
Absence of Lamin A/C gene mutations in four Wiedemann-Rautenstrauch syndrome patients. 38 8 71
19938095 2009
6
Follow-up study of Wiedemann-Rautenstrauch syndrome: long-term survival and comparison with Rautenstrauch's patient "G". 38 8 71
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. 8 71
30450527 2018
8
Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome. 8 71
25898808 2015
9
A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2. 8 71
23696134 2013
10
Progeria: a cell culture study and clinical report of familial incidence. 8 71
319005 1977
11
Wiedemann-Rautenstrauch syndrome: report of a variant case. 38 8
22585414 2012
12
Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): report of three affected sibs. 38 8
21671373 2011
13
The Wiedemann-Rautenstrauch or neonatal progeroid syndrome: report of a patient with hypospadias. 38 8
20162872 2009
14
Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome. 38 8
17523150 2007
15
Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: report of five new cases and review. 38 8
10607952 2000
16
Two sibs with Wiedemann-Rautenstrauch syndrome: possibilities of prenatal diagnosis by ultrasound. 38 8
1619643 1992
17
Wiedemann-Rautenstrauch syndrome. 38 8
2325106 1990
18
Wiedemann-Rautenstrauch syndrome's fibroblasts display a normal in vitro lifespan. 8
16470741 2006
19
Relationship between donor age and the replicative lifespan of human cells in culture: a reevaluation. 8
9724752 1998
20
Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients. 8
9152846 1997
21
Clinical variability in neonatal progeroid syndrome. 8
8533814 1995
22
The Wiedemann-Rautenstrauch neonatal progeroid syndrome: a case report and review of the literature. 8
7551161 1995
23
Neonatal progeroid syndrome: more than one disease? 8
2301475 1990
24
The Wiedemann-Rautenstrauch or neonatal progeroid syndrome. Neuropathological study of a case. 8
6200796 1984
25
The Wiedemann-Rautenstrauch or neonatal progeroid syndrome. Report of a patient with consanguineous parents. 8
7262096 1981
26
A new neonatal progeroid syndrome. 8
7262106 1981
27
An unidentified neonatal progeroid syndrome: follow-up report. 8
569581 1979
28
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. 38
30690919 2019
29
Random walk with restart on multiplex and heterogeneous biological networks. 38
30020411 2019
30
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. 38
29100093 2017
31
Wiedemann-Rautenstrauch Syndrome With Bilateral Tarsal Kink: Three Sutures for Correction. 38
28468175 2017
32
Ophthalmic manifestations in a case of Wiedemann-Rautenstrauch syndrome. 38
26691040 2015
33
Wiedemann-Rautenstrauch syndrome prenatal diagnosis. 38
25421132 2014
34
Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene. 38
24613577 2014
35
POLR3-Related Leukodystrophy 38
22855961 2012
36
Wiedemann-Rautenstrauch syndrome: first Indian case. 38
21630068 2011
37
Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. 38
20979188 2010
38
Petty syndrome and Fontaine-Farriaux syndrome: Delineation of a single syndrome. 38
20583180 2010
39
Natural course of neonatal progeroid syndrome. 38
19579756 2009
40
Clinical and laboratory findings of two newborns with Wiedemann-Rautenstrauch syndrome: additional features, evaluation of bone turnover and review of the literature. 38
18717246 2008
41
The neonatal progeroid syndrome (Wiedemann-Rautenstrauch): a model for the study of human aging? 38
17728088 2007
42
Transient progeroid phenotype and lipodystrophy in mosaic polyploidy. 38
16317304 2006
43
In vitro osteogenic differentiation is affected in Wiedemann-Rautenstrauch-Syndrome (WRS). 38
16097434 2005
44
What syndrome is this? Wiedemann-Rautenstrauch syndrome. 38
15660904 2005
45
[Kyphoscoliosis in Wiedemann-Rautenstrauch-syndrome (neonatal progeroid syndrome)]. 38
12822084 2003
46
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). 38
12768443 2003
47
[Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): case report and review of the literature]. 38
10812556 2000
48
Severe prenatal growth retardation, dysmorphic features, pigmentary retinopathy, and generalized absence of subcutaneous tissues: a new entity? 38
9823492 1998
49
Wiedemann-Rautenstrauch syndrome. A case report and review of the literature. 38
9664208 1998
50
A probable case of Wiedemann-Rautenstrauch syndrome or neonatal progeroid syndrome and review of the literature. 38
9220191 1997

Variations for Wiedemann-Rautenstrauch Syndrome

ClinVar genetic disease variations for Wiedemann-Rautenstrauch Syndrome:

6 (show all 24)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 POLR3A NM_007055.4(POLR3A): c.2617C> T (p.Arg873Ter) single nucleotide variant Pathogenic rs148932047 10:79753125-79753125 10:77993367-77993367
2 POLR3A POLR3A, IVS14, G-A, +22 (rs191875469) AND IVS25, T-C, -11 single nucleotide variant Pathogenic
3 POLR3A NM_007055.4(POLR3A): c.2005C> T (p.Arg669Ter) single nucleotide variant Pathogenic 10:79767529-79767529 10:78007771-78007771
4 POLR3A NM_007055.4(POLR3A): c.3337-1G> A single nucleotide variant Pathogenic 10:79743771-79743771 10:77984013-77984013
5 POLR3A NM_007055.4(POLR3A): c.760C> T (p.Arg254Ter) single nucleotide variant Pathogenic 10:79782028-79782028 10:78022270-78022270
6 POLR3A NM_007055.4(POLR3A): c.3243-2A> G single nucleotide variant Pathogenic 10:79744058-79744058 10:77984300-77984300
7 POLR3A NM_007055.4(POLR3A): c.1572+1G> A single nucleotide variant Pathogenic 10:79773407-79773407 10:78013649-78013649
8 POLR3A NM_007055.4(POLR3A): c.490+1G> A single nucleotide variant Pathogenic 10:79784728-79784728 10:78024970-78024970
9 POLR3A NM_007055.4(POLR3A): c.3337-5T> A single nucleotide variant Pathogenic/Likely pathogenic rs368905417 10:79743775-79743775 10:77984017-77984017
10 POLR3A NM_007055.4(POLR3A): c.3337-11T> C single nucleotide variant Pathogenic/Likely pathogenic 10:79743781-79743781 10:77984023-77984023
11 POLR3A NM_007055.4(POLR3A): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic/Likely pathogenic 10:79789163-79789163 10:78029405-78029405
12 POLR3A NM_007055.4(POLR3A): c.1909+18G> A single nucleotide variant Pathogenic/Likely pathogenic rs267608677 10:79769277-79769277 10:78009519-78009519
13 POLR3A NM_007055.4(POLR3A): c.2617-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs181087667 10:79753126-79753126 10:77993368-77993368
14 POLR3A NM_007055.4(POLR3A): c.4003G> A (p.Gly1335Arg) single nucleotide variant Likely pathogenic rs768222183 10:79739920-79739920 10:77980162-77980162
15 POLR3A NM_007055.4(POLR3A): c.3874G> A (p.Asp1292Asn) single nucleotide variant Likely pathogenic rs757209071 10:79741203-79741203 10:77981445-77981445
16 POLR3A NM_007055.4(POLR3A): c.3392A> G (p.Lys1131Arg) single nucleotide variant Likely pathogenic rs138305578 10:79743715-79743715 10:77983957-77983957
17 POLR3A NM_007055.4(POLR3A): c.3206G> A (p.Arg1069Gln) single nucleotide variant Likely pathogenic rs778985686 10:79744964-79744964 10:77985206-77985206
18 POLR3A NM_007055.4(POLR3A): c.2707G> A (p.Gly903Arg) single nucleotide variant Likely pathogenic 10:79753035-79753035 10:77993277-77993277
19 POLR3A NM_007055.4(POLR3A): c.2474C> G (p.Ser825Ter) single nucleotide variant Likely pathogenic 10:79760738-79760738 10:78000980-78000980
20 POLR3A NM_007055.4(POLR3A): c.1800C> T (p.Ile600=) single nucleotide variant Likely pathogenic 10:79769404-79769404 10:78009646-78009646
21 POLR3A NM_007055.4(POLR3A): c.1048+5G> T single nucleotide variant Likely pathogenic rs890755853 10:79781613-79781613 10:78021855-78021855
22 POLR3A NM_007055.4(POLR3A): c.*18C> T single nucleotide variant Likely pathogenic 10:79737218-79737218 10:77977460-77977460
23 POLR3A NM_007055.4(POLR3A): c.3770_3771CT[1] (p.Leu1258fs) short repeat Likely pathogenic 10:79741304-79741305 10:77981546-77981547
24 POLR3A NM_007055.4(POLR3A): c.1909+22G> A single nucleotide variant Conflicting interpretations of pathogenicity 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 endoplasmic reticulum lumen GO:0005788 8.96 SPP1 BGLAP
2 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

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 8.32 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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