WDRTS
MCID: WDM005
MIFTS: 44

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 58 77 54 26 60
Neonatal Pseudo-Hydrocephalic Progeroid Syndrome 26 30 6
Neonatal Progeroid Syndrome 54 26 60
Progeroid Syndrome, Neonatal 58 41
Congenital Pseudohydrocephalic Progeroid Syndrome 26
Neonatal Pseudohydrocephalic Progeroid Syndrome 26
Wiedemann Rautenstrauch Syndrome 54
Progeroid Syndrome Neonatal 54
Wdrts 58

Characteristics:

Orphanet epidemiological data:

60
wiedemann-rautenstrauch syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
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:

33
wiedemann-rautenstrauch syndrome:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Wiedemann-Rautenstrauch Syndrome

Genetics Home Reference : 26 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.

MalaCards based summary : Wiedemann-Rautenstrauch Syndrome, also known as neonatal pseudo-hydrocephalic progeroid syndrome, is related to marfanoid-progeroid-lipodystrophy syndrome and aging, 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 : 54 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 : 58 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)

Wikipedia : 77 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 all 16)
# Related Disease Score Top Affiliating Genes
1 marfanoid-progeroid-lipodystrophy syndrome 11.5
2 aging 10.1
3 entropion 10.1
4 marfan syndrome 10.0
5 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.0
6 scoliosis 10.0
7 hypospadias 10.0
8 papillary cystadenocarcinoma 9.9 BGLAP SPP1
9 fibrosarcomatous osteosarcoma 9.9 BGLAP SPP1
10 hemarthrosis 9.9 BGLAP SPP1
11 hypophosphatasia, adult 9.9 BGLAP SPP1
12 osteofibrous dysplasia 9.8 BGLAP SPP1
13 bone resorption disease 9.8 BGLAP SPP1
14 bone disease 9.8 BGLAP SPP1
15 chronic kidney failure 9.6 BGLAP SPP1
16 calcinosis 9.6 LMNA SPP1

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:

60 33 (show top 50) (show all 154)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 60 33 hallmark (90%) Very frequent (99-80%) HP:0000272
2 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
3 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
4 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
5 lipoatrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0100578
6 retrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000278
7 broad forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000337
8 short philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000322
9 deeply set eye 60 33 hallmark (90%) Very frequent (99-80%) HP:0000490
10 slender build 60 33 hallmark (90%) Very frequent (99-80%) HP:0001533
11 narrow mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000160
12 upslanted palpebral fissure 60 33 hallmark (90%) Very frequent (99-80%) HP:0000582
13 hypotrichosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001006
14 downturned corners of mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0002714
15 thin upper lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000219
16 sparse scalp hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002209
17 pointed chin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000307
18 convex nasal ridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000444
19 triangular face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000325
20 relative macrocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0004482
21 posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000358
22 severe intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0008846
23 large beaked nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003683
24 progeroid facial appearance 60 33 hallmark (90%) Very frequent (99-80%) HP:0005328
25 entropion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000621
26 widely patent fontanelles and sutures 60 33 hallmark (90%) Very frequent (99-80%) HP:0004492
27 natal tooth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000695
28 prominent scalp veins 60 33 hallmark (90%) Very frequent (99-80%) HP:0001043
29 loss of facial adipose tissue 60 33 hallmark (90%) Very frequent (99-80%) HP:0000292
30 congenital generalized lipodystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0009059
31 reduced subcutaneous adipose tissue 33 hallmark (90%) HP:0003758
32 low-set ears 60 33 frequent (33%) Frequent (79-30%) HP:0000369
33 hydrocephalus 60 33 frequent (33%) Frequent (79-30%) HP:0000238
34 osteopenia 60 33 frequent (33%) Frequent (79-30%) HP:0000938
35 spasticity 60 33 frequent (33%) Frequent (79-30%) HP:0001257
36 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
37 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
38 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
39 hip dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0001385
40 corneal opacity 60 33 frequent (33%) Frequent (79-30%) HP:0007957
41 thickened calvaria 60 33 frequent (33%) Frequent (79-30%) HP:0002684
42 fever 60 33 frequent (33%) Frequent (79-30%) HP:0001945
43 hypertriglyceridemia 60 33 occasional (7.5%) Frequent (79-30%) HP:0002155
44 acanthosis nigricans 60 33 frequent (33%) Frequent (79-30%) HP:0000956
45 feeding difficulties 60 33 frequent (33%) Frequent (79-30%) HP:0011968
46 thin skin 60 33 frequent (33%) Frequent (79-30%) HP:0000963
47 hearing abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0000364
48 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
49 recurrent otitis media 60 33 frequent (33%) Frequent (79-30%) HP:0000403
50 hepatic steatosis 60 33 frequent (33%) Frequent (79-30%) HP:0001397

Symptoms via clinical synopsis from OMIM:

58
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

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 30 POLR3A

Anatomical Context for Wiedemann-Rautenstrauch Syndrome

MalaCards organs/tissues related to Wiedemann-Rautenstrauch Syndrome:

42
Skin, Bone, Eye, Skeletal Muscle

Publications for Wiedemann-Rautenstrauch Syndrome

Articles related to Wiedemann-Rautenstrauch Syndrome:

(show all 22)
# Title Authors Year
1
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. ( 30690919 )
2019
2
Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome. ( 30323018 )
2018
3
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. ( 30414627 )
2018
4
Wiedemann-Rautenstrauch syndrome: A phenotype analysis. ( 28447407 )
2017
5
Wiedemann-Rautenstrauch Syndrome With Bilateral Tarsal Kink: Three Sutures for Correction. ( 28468175 )
2017
6
Ophthalmic manifestations in a case of Wiedemann-Rautenstrauch syndrome. ( 26691040 )
2015
7
Wiedemann-Rautenstrauch syndrome prenatal diagnosis. ( 25421132 )
2014
8
Wiedemann-Rautenstrauch syndrome: report of a variant case. ( 22585414 )
2012
9
Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): report of three affected sibs. ( 21671373 )
2011
10
Wiedemann-Rautenstrauch syndrome: first Indian case. ( 21630068 )
2011
11
Absence of Lamin A/C gene mutations in four Wiedemann-Rautenstrauch syndrome patients. ( 19938095 )
2009
12
Clinical and laboratory findings of two newborns with Wiedemann-Rautenstrauch syndrome: additional features, evaluation of bone turnover and review of the literature. ( 18717246 )
2008
13
In vitro osteogenic differentiation is affected in Wiedemann-Rautenstrauch-Syndrome (WRS). ( 16097434 )
2005
14
What syndrome is this? Wiedemann-Rautenstrauch syndrome. ( 15660904 )
2005
15
Follow-up study of Wiedemann-Rautenstrauch syndrome: long-term survival and comparison with Rautenstrauch's patient "G". ( 16007586 )
2005
16
Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: report of five new cases and review. ( 10607952 )
2000
17
Wiedemann-Rautenstrauch syndrome. A case report and review of the literature. ( 9664208 )
1998
18
A probable case of Wiedemann-Rautenstrauch syndrome or neonatal progeroid syndrome and review of the literature. ( 9220191 )
1997
19
Radiographic findings in Wiedemann-Rautenstrauch syndrome. ( 1437383 )
1992
20
Two sibs with Wiedemann-Rautenstrauch syndrome: possibilities of prenatal diagnosis by ultrasound. ( 1619643 )
1992
21
Wiedemann-Rautenstrauch syndrome. ( 2325106 )
1990
22
The neonatal pseudo-hydrocephalic progeroid syndrome (Wiedemann-Rautenstrauch). Report of a new patient and review of the literature. ( 3294017 )
1988

Variations for Wiedemann-Rautenstrauch Syndrome

ClinVar genetic disease variations for Wiedemann-Rautenstrauch Syndrome:

6 (show all 47)
# Gene Variation Type Significance SNP ID Assembly Location
1 POLR3A NM_007055.3(POLR3A): c.1909+18G> A single nucleotide variant Pathogenic/Likely pathogenic rs267608677 GRCh37 Chromosome 10, 79769277: 79769277
2 POLR3A NM_007055.3(POLR3A): c.1909+18G> A single nucleotide variant Pathogenic/Likely pathogenic rs267608677 GRCh38 Chromosome 10, 78009519: 78009519
3 POLR3A NM_007055.3(POLR3A): c.2617-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs181087667 GRCh37 Chromosome 10, 79753126: 79753126
4 POLR3A NM_007055.3(POLR3A): c.2617-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs181087667 GRCh38 Chromosome 10, 77993368: 77993368
5 POLR3A NM_007055.4(POLR3A): c.2617C> T (p.Arg873Ter) single nucleotide variant Pathogenic rs148932047 GRCh37 Chromosome 10, 79753125: 79753125
6 POLR3A NM_007055.4(POLR3A): c.2617C> T (p.Arg873Ter) single nucleotide variant Pathogenic rs148932047 GRCh38 Chromosome 10, 77993367: 77993367
7 POLR3A NM_007055.4(POLR3A): c.3337-5T> A single nucleotide variant Pathogenic/Likely pathogenic rs368905417 GRCh37 Chromosome 10, 79743775: 79743775
8 POLR3A NM_007055.4(POLR3A): c.3337-5T> A single nucleotide variant Pathogenic/Likely pathogenic rs368905417 GRCh38 Chromosome 10, 77984017: 77984017
9 POLR3A NM_007055.3(POLR3A): c.1909+22G> A single nucleotide variant Pathogenic/Likely pathogenic rs191875469 GRCh37 Chromosome 10, 79769273: 79769273
10 POLR3A NM_007055.3(POLR3A): c.1909+22G> A single nucleotide variant Pathogenic/Likely pathogenic rs191875469 GRCh38 Chromosome 10, 78009515: 78009515
11 POLR3A NM_007055.3(POLR3A): c.*18C> T single nucleotide variant Likely pathogenic GRCh38 Chromosome 10, 77977460: 77977460
12 POLR3A NM_007055.3(POLR3A): c.*18C> T single nucleotide variant Likely pathogenic GRCh37 Chromosome 10, 79737218: 79737218
13 POLR3A NM_007055.3(POLR3A): c.3772_3773delCT (p.Leu1258Glyfs) deletion Likely pathogenic GRCh38 Chromosome 10, 77981546: 77981547
14 POLR3A NM_007055.3(POLR3A): c.3772_3773delCT (p.Leu1258Glyfs) deletion Likely pathogenic GRCh37 Chromosome 10, 79741304: 79741305
15 POLR3A NM_007055.3(POLR3A): c.3337-11T> C single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 10, 77984023: 77984023
16 POLR3A NM_007055.3(POLR3A): c.3337-11T> C single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 10, 79743781: 79743781
17 POLR3A NM_007055.4(POLR3A): c.3206G> A (p.Arg1069Gln) single nucleotide variant Likely pathogenic rs778985686 GRCh38 Chromosome 10, 77985206: 77985206
18 POLR3A NM_007055.4(POLR3A): c.3206G> A (p.Arg1069Gln) single nucleotide variant Likely pathogenic rs778985686 GRCh37 Chromosome 10, 79744964: 79744964
19 POLR3A NM_007055.3(POLR3A): c.2707G> A (p.Gly903Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 10, 77993277: 77993277
20 POLR3A NM_007055.3(POLR3A): c.2707G> A (p.Gly903Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 10, 79753035: 79753035
21 POLR3A NM_007055.4(POLR3A): c.2474C> G (p.Ser825Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 10, 78000980: 78000980
22 POLR3A NM_007055.4(POLR3A): c.2474C> G (p.Ser825Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 10, 79760738: 79760738
23 POLR3A NM_007055.4(POLR3A): c.1800C> T (p.Ile600=) single nucleotide variant Likely pathogenic GRCh38 Chromosome 10, 78009646: 78009646
24 POLR3A NM_007055.4(POLR3A): c.1800C> T (p.Ile600=) single nucleotide variant Likely pathogenic GRCh37 Chromosome 10, 79769404: 79769404
25 POLR3A NM_007055.4(POLR3A): c.1048+5G> T single nucleotide variant Likely pathogenic rs890755853 GRCh38 Chromosome 10, 78021855: 78021855
26 POLR3A NM_007055.4(POLR3A): c.1048+5G> T single nucleotide variant Likely pathogenic rs890755853 GRCh37 Chromosome 10, 79781613: 79781613
27 POLR3A NM_007055.4(POLR3A): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 10, 78029405: 78029405
28 POLR3A NM_007055.4(POLR3A): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 10, 79789163: 79789163
29 POLR3A NM_007055.4(POLR3A): c.4003G> A (p.Gly1335Arg) single nucleotide variant Likely pathogenic rs768222183 GRCh37 Chromosome 10, 79739920: 79739920
30 POLR3A NM_007055.4(POLR3A): c.4003G> A (p.Gly1335Arg) single nucleotide variant Likely pathogenic rs768222183 GRCh38 Chromosome 10, 77980162: 77980162
31 POLR3A NM_007055.3(POLR3A): c.3874G> A (p.Asp1292Asn) single nucleotide variant Likely pathogenic rs757209071 GRCh37 Chromosome 10, 79741203: 79741203
32 POLR3A NM_007055.3(POLR3A): c.3874G> A (p.Asp1292Asn) single nucleotide variant Likely pathogenic rs757209071 GRCh38 Chromosome 10, 77981445: 77981445
33 POLR3A NM_007055.3(POLR3A): c.3392A> G (p.Lys1131Arg) single nucleotide variant Likely pathogenic rs138305578 GRCh38 Chromosome 10, 77983957: 77983957
34 POLR3A NM_007055.3(POLR3A): c.3392A> G (p.Lys1131Arg) single nucleotide variant Likely pathogenic rs138305578 GRCh37 Chromosome 10, 79743715: 79743715
35 POLR3A POLR3A, IVS14, G-A, +22 (rs191875469) AND IVS25, T-C, -11 single nucleotide variant Pathogenic
36 POLR3A NM_007055.4(POLR3A): c.2005C> T (p.Arg669Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 79767529: 79767529
37 POLR3A NM_007055.4(POLR3A): c.2005C> T (p.Arg669Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 78007771: 78007771
38 POLR3A NM_007055.4(POLR3A): c.3337-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 10, 79743771: 79743771
39 POLR3A NM_007055.4(POLR3A): c.3337-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 10, 77984013: 77984013
40 POLR3A NM_007055.4(POLR3A): c.760C> T (p.Arg254Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 78022270: 78022270
41 POLR3A NM_007055.4(POLR3A): c.760C> T (p.Arg254Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 79782028: 79782028
42 POLR3A NM_007055.4(POLR3A): c.3243-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 10, 77984300: 77984300
43 POLR3A NM_007055.4(POLR3A): c.3243-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 10, 79744058: 79744058
44 POLR3A NM_007055.4(POLR3A): c.1572+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 10, 78013649: 78013649
45 POLR3A NM_007055.4(POLR3A): c.1572+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 10, 79773407: 79773407
46 POLR3A NM_007055.4(POLR3A): c.490+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 10, 78024970: 78024970
47 POLR3A NM_007055.4(POLR3A): c.490+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 10, 79784728: 79784728

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 BGLAP SPP1
2 10.61 BGLAP SPP1
3 10.21 BGLAP SPP1

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 BGLAP SPP1
2 vesicle GO:0031982 8.62 BGLAP SPP1

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 BGLAP SPP1
2 biomineral tissue development GO:0031214 8.96 BGLAP SPP1
3 response to vitamin D GO:0033280 8.62 BGLAP SPP1

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 BGLAP LMNA

Sources for Wiedemann-Rautenstrauch Syndrome

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
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50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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