STWS
MCID: STV003
MIFTS: 51

Stuve-Wiedemann Syndrome (STWS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Stuve-Wiedemann Syndrome

MalaCards integrated aliases for Stuve-Wiedemann Syndrome:

Name: Stuve-Wiedemann Syndrome 56 52 25 58 36 54 71
Sjs2 56 52 25 58 73
Stuve-Wiedemann/schwartz-Jampel Type 2 Syndrome 56 52 25 73
Stws 56 52 25 73
Schwartz-Jampel Syndrome Type 2 52 58 73
Stuve-Wiedemann Dysplasia 25 58 71
Stüve-Wiedemann Syndrome 25 29 6
Sws 56 25 73
Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome 56 13
Schwartz-Jampel Syndrome, Neonatal 56 73
Neonatal Schwartz-Jampel Syndrome 25 58
Neonatal Schwartz-Jampel Syndrome Type 2 52
Schwartz-Jampel Syndrome, Type 2; Sjs2 56
Schwartz-Jampel Syndrome Neonatal 52
Schwartz-Jampel Syndrome, Type 2 56
Schwartz-Jampel Type 2 Syndrome 25
Stueve-Wiedemann Syndrome 73
Syndrome, Stuve-Wiedemann 39

Characteristics:

Orphanet epidemiological data:

58
stuve-wiedemann syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),1-5/10000 (United Arab Emirates); Age of onset: Neonatal; Age of death: infantile;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
death in infancy due to hyperthermia or apnea
survival past infancy is rare
survivors develop dysautonomia-like symptoms


HPO:

31
stuve-wiedemann syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Stuve-Wiedemann Syndrome

Genetics Home Reference : 25 Stüve-Wiedemann syndrome is a severe condition characterized by bone abnormalities and dysfunction of the autonomic nervous system, which controls involuntary body processes such as the regulation of breathing rate and body temperature. The condition is apparent from birth, and its key features include abnormal curvature (bowing) of the long bones in the legs, difficulty feeding and swallowing, and episodes of dangerously high body temperature (hyperthermia). In addition to bowed legs, affected infants can have bowed arms, permanently bent fingers and toes (camptodactyly), and joint deformities (contractures) in the elbows and knees that restrict their movement. Other features include abnormalities of the pelvic bones (the ilia) and reduced bone mineral density (osteopenia). In infants with Stüve-Wiedemann syndrome, dysfunction of the autonomic nervous system typically leads to difficulty feeding and swallowing, breathing problems, and episodes of hyperthermia. Affected infants may also sweat excessively, even when the body temperature is not elevated, or have a reduced ability to feel pain. Many babies with this condition do not survive past infancy because of the problems regulating breathing and body temperature; however, some people with Stüve-Wiedemann syndrome live into adolescence or later. Problems with breathing and swallowing usually improve in affected children who survive infancy; however, they still have difficulty regulating body temperature. In addition, the leg bowing worsens, and children with Stüve-Wiedemann syndrome may develop prominent joints, an abnormal curvature of the spine (scoliosis), and spontaneous bone fractures. Some affected individuals have a smooth tongue that lacks the bumps that house taste buds (fungiform papillae). Affected children may also lose certain reflexes, particularly the reflex to blink when something touches the eye (corneal reflex) and the knee-jerk reflex (patellar reflex). Another condition once known as Schwartz-Jampel syndrome type 2 is now considered to be part of Stüve-Wiedemann syndrome. Researchers have recommended that the designation Schwartz-Jampel syndrome type 2 no longer be used.

MalaCards based summary : Stuve-Wiedemann Syndrome, also known as sjs2, is related to scoliosis and sturge-weber syndrome, and has symptoms including apnea and hoarseness. An important gene associated with Stuve-Wiedemann Syndrome is LIFR (LIF Receptor Subunit Alpha), and among its related pathways/superpathways are Regulation of lipid metabolism Insulin signaling-generic cascades and NFAT and Cardiac Hypertrophy. Affiliated tissues include bone, tongue and eye, and related phenotypes are skeletal dysplasia and short stature

NIH Rare Diseases : 52 Stuve-Wiedemann syndrome (STWS) is a congenital skeletal (bone) dysplasia characterized by small stature, bowing of the long bones, and other skeletal anomalies. Patients often present with serious complications such as breathing and feeding difficulties and episodes of hyperthermia (elevated body temperature). The condition is transmitted in an autosomal recessive fashion and appears to be caused by mutations in the leukemia inhibitory factor receptor gene (LIFR). STWS is often fatal during the neonatal period due to respiratory distress or hyperthermic episodes. However, some patients do survive to adolescence and beyond. Survivors may develop spinal deformities, spontaneous fractures, bowing of the lower limbs, prominent joints, and dysautonomia symptoms (including temperature instability). Treatment is mainly symptomatic and should include efforts to prevent choking, physical therapy and/or surgery to address bone abnormalities, efforts to prevent vision loss, and treatment for osteopenia or osteoporosis . Caution should be exercised when using anesthesia due to the predisposition to hyperthermia.

OMIM : 56 Stuve-Wiedemann syndrome is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, and respiratory and feeding distress usually resulting in early death (Dagoneau et al., 2004). See also 'classic' Schwartz-Jampel syndrome type 1 (SJS1; 255800), a phenotypically similar but genetically distinct disorder caused by mutation in the HSPG2 gene (142461) on chromosome 1p36. (601559)

KEGG : 36 Stuve-Wiedemann syndrome is an autosomal recessively inherited disorder characterized by congenital bone dysplasia like bowing of the long bones. Mutations in LIFR result in this disease.

UniProtKB/Swiss-Prot : 73 Stueve-Wiedemann syndrome: Severe autosomal recessive condition and belongs to the group of the bent-bone dysplasias. SWS is characterized by bowing of the lower limbs, with internal cortical thickening, wide metaphyses with abnormal trabecular pattern, and camptodactyly. Additional features include feeding and swallowing difficulties, as well as respiratory distress and hyperthermic episodes, which cause death in the first months of life. The rare survivors develop progressive scoliosis, spontaneous fractures, bowing of the lower limbs, with prominent joints and dysautonomia symptoms, including temperature instability, absent corneal and patellar reflexes, and smooth tongue.

Related Diseases for Stuve-Wiedemann Syndrome

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

(show top 50) (show all 156)
# Related Disease Score Top Affiliating Genes
1 scoliosis 29.7 LIFR IL6ST
2 sturge-weber syndrome 12.5
3 blood group--swann system 12.1
4 schwartz-jampel syndrome, type 1 12.1
5 epileptic encephalopathy, early infantile, 6 11.2
6 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency 11.2
7 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 11.2
8 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency 11.2
9 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency 11.2
10 parasomnia, sleepwalking type 11.2
11 irritable bowel syndrome 10.7
12 leukemia 10.6
13 dysautonomia 10.6
14 bone disease 10.5
15 gastrointestinal system disease 10.5
16 campomelic dysplasia and related disorders 10.5
17 autosomal recessive disease 10.4
18 cold-induced sweating syndrome including crisponi syndrome 10.4
19 hypotonia 10.4
20 myotonia 10.4
21 intestinal disease 10.4
22 blepharophimosis 10.3
23 cold-induced sweating syndrome 10.3
24 megaloblastic anemia 10.3
25 hypothyroidism 10.3
26 thrombocytopenia 10.3
27 congenital contractures 10.3
28 cytokine deficiency 10.3
29 primary bone dysplasia 10.3
30 lethal chondrodysplasia 10.3
31 keratitis, hereditary 10.3
32 retinal detachment 10.3
33 neuropathy, hereditary sensory and autonomic, type iii 10.3
34 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.3
35 pulmonary hypertension 10.3
36 respiratory failure 10.3
37 leukocoria 10.3
38 oligohydramnios 10.3
39 quadriplegia 10.3
40 lactic acidosis 10.3
41 corneal ulcer 10.3
42 malignant hyperthermia 10.3
43 dysphagia 10.3
44 mucositis 10.3
45 constipation 10.3
46 b-cell lymphoma 10.3
47 breast cancer 10.2
48 colorectal cancer 10.2
49 triiodothyronine receptor auxiliary protein 10.2
50 yemenite deaf-blind hypopigmentation syndrome 10.2

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



Diseases related to Stuve-Wiedemann Syndrome

Symptoms & Phenotypes for Stuve-Wiedemann Syndrome

Human phenotypes related to Stuve-Wiedemann Syndrome:

58 31 (show top 50) (show all 89)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
4 hyperhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000975
5 hypohidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000966
6 abnormality of vision 58 31 hallmark (90%) Very frequent (99-80%) HP:0000504
7 paresthesia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003401
8 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
9 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
10 recurrent fever 58 31 hallmark (90%) Very frequent (99-80%) HP:0001954
11 thickened cortex of long bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0000935
12 metaphyseal widening 58 31 hallmark (90%) Very frequent (99-80%) HP:0003016
13 abnormal autonomic nervous system physiology 31 hallmark (90%) HP:0012332
14 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
15 genu valgum 58 31 frequent (33%) Frequent (79-30%) HP:0002857
16 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
17 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
18 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
19 elbow flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0002987
20 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
21 impaired pain sensation 58 31 frequent (33%) Frequent (79-30%) HP:0007328
22 lacrimation abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000632
23 recurrent fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002757
24 apnea 58 31 frequent (33%) Frequent (79-30%) HP:0002104
25 asthma 58 31 frequent (33%) Frequent (79-30%) HP:0002099
26 trismus 58 31 frequent (33%) Frequent (79-30%) HP:0000211
27 oligohydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001562
28 respiratory distress 58 31 frequent (33%) Frequent (79-30%) HP:0002098
29 knee flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0006380
30 smooth tongue 58 31 frequent (33%) Frequent (79-30%) HP:0010298
31 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
32 abnormality of the dentition 58 31 occasional (7.5%) Occasional (29-5%) HP:0000164
33 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
34 sacral dimple 58 31 occasional (7.5%) Occasional (29-5%) HP:0000960
35 decreased corneal reflex 58 31 occasional (7.5%) Occasional (29-5%) HP:0008000
36 absent patellar reflexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0006844
37 ectopic thyroid 58 31 occasional (7.5%) Occasional (29-5%) HP:0100028
38 short neck 31 HP:0000470
39 bowing of the long bones 58 Very frequent (99-80%)
40 abnormal cortical bone morphology 58 Very frequent (99-80%)
41 short nose 31 HP:0003196
42 flexion contracture 58 Frequent (79-30%)
43 dysphagia 31 HP:0002015
44 feeding difficulties 31 HP:0011968
45 myotonia 31 HP:0002486
46 abnormality of the metaphysis 58 Very frequent (99-80%)
47 opacification of the corneal stroma 31 HP:0007759
48 frontal bossing 31 HP:0002007
49 pulmonary arterial hypertension 31 HP:0002092
50 micrognathia 31 HP:0000347

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
short neck

Head And Neck Face:
frontal bossing
micrognathia
square face
midface hypoplasia
facial myotonia

Head And Neck Ears:
low-set ears

Voice:
hoarse voice
hypernasal voice

Respiratory Lung:
pulmonary hypoplasia

Neurologic Central Nervous System:
dysautonomia
normal intelligence

Skin Nails Hair Skin:
thin skin
single palmar crease
blotching pigmentation of the skin (in older children)

Skeletal Feet:
talipes valgus
flexion contractures of the toes

Growth Height:
short stature, postnatal

Abdomen Gastrointestinal:
poor feeding
swallowing difficulties (dysphagia)

Skeletal Limbs:
contractures of the elbows
contractures of the knees
camptomelia
congenital bowing of the long bones (lower extremity greater than upper extremity)
short, thick long bones
more
Head And Neck Teeth:
poor dentition (in older children)
mottled enamel
chronic tooth abscesses

Skeletal Pelvis:
broad pubic bones
broad ischial bones
relatively small ilia

Head And Neck Nose:
short nose
wide nasal base

Skeletal:
osteoporosis
spontaneous fracture (in older children)

Respiratory:
respiratory insufficiency
apnea

Head And Neck Mouth:
pursed lips
smooth tongue without fungiform papillae (in older children)
ulcers of the tongue due to decreased sensation

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs
broad coracoid processes
long scapulae

Skeletal Hands:
camptodactyly
adducted thumbs
short fingers
flexion contractures of the fingers
ulnar deviation of the fingers

Neurologic Peripheral Nervous System:
absent patellar reflexes
decreased pain sensation in extremities

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
short palpebral fissures
corneal opacities
absent corneal reflexes (reported in older children)
decreased blink reflexes

Metabolic Features:
hyperthermia, episodic
poor temperature regulation

Skeletal Spine:
scoliosis, progressive

Cardiovascular Vascular:
pulmonary artery hypertension
hypertrophy of the pulmonary artery wall

Clinical features from OMIM:

601559

UMLS symptoms related to Stuve-Wiedemann Syndrome:


apnea, hoarseness

Drugs & Therapeutics for Stuve-Wiedemann Syndrome

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

Genetic Tests for Stuve-Wiedemann Syndrome

Genetic tests related to Stuve-Wiedemann Syndrome:

# Genetic test Affiliating Genes
1 Stüve-Wiedemann Syndrome 29 LIFR

Anatomical Context for Stuve-Wiedemann Syndrome

MalaCards organs/tissues related to Stuve-Wiedemann Syndrome:

40
Bone, Tongue, Eye, Skin, Cortex, Thyroid, Pituitary

Publications for Stuve-Wiedemann Syndrome

Articles related to Stuve-Wiedemann Syndrome:

(show top 50) (show all 98)
# Title Authors PMID Year
1
Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy. 6 56 61
25540807 2014
2
Stuve-Wiedemann syndrome: is it underrecognized? 61 6 56
24988918 2014
3
Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report. 56 6 61
18546280 2008
4
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. 6 61 56
14740318 2004
5
Cardiovascular abnormalities associated with the Stuve-Wiedemann syndrome. 56 61
12910496 2003
6
Stüve-Wiedemann syndrome in children surviving infancy: clinical and radiological features. 56
12514358 2003
7
Characterization of a long-term survivor with Stüve-Wiedemann syndrome and mosaicism of a supernumerary marker chromosome. 56
11424139 2001
8
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2. 56
9674905 1998
9
Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping". 56
9674906 1998
10
Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain. 56
9382147 1997
11
Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1. 56
9279765 1997
12
Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia. 56
9083764 1997
13
Stüve-Wiedemann syndrome: update and historical footnote. 56
8723080 1996
14
Stüve-Wiedemann dysplasia in a 3 1/2-year-old boy. 56
8723081 1996
15
Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates. 56
8728692 1996
16
The Schwartz-Jampel syndrome. 56
8298738 1993
17
Neonatal manifestations of Schwartz-Jampel syndrome. 56
3321990 1987
18
Congenital bowing of the long bones in two sisters. 56
4105362 1971
19
Effects of loading rates and plant species on sludge characteristics in earthworm assistant sludge treatment wetlands. 61
32416508 2020
20
Assessing the potential of enhanced primary clarification to manage fats, oils and grease (FOG) at wastewater treatment works. 61
32348944 2020
21
Sulfurous thermal waters stimulate the osteogenic differentiation of human mesenchymal stromal cells - An in vitro study. 61
32531680 2020
22
Effect of passive ventilation on the performance of unplanted sludge treatment wetlands: heavy metal removal and microbial community variation. 61
32500490 2020
23
Evaluation of the fate of nutrients, antibiotics, and antibiotic resistance genes in sludge treatment wetlands. 61
31945537 2020
24
Deciphering of organic matter and nutrient removal and bacterial community in three sludge treatment wetlands under different operating conditions. 61
32090846 2020
25
Characterisation and energy assessment of fats, oils and greases (FOG) waste at catchment level. 61
31945709 2020
26
Fate of antibiotics and the related antibiotic resistance genes during sludge stabilization in sludge treatment wetlands. 61
30831502 2019
27
Seasonal dynamics of bacterial communities associated with antibiotic removal and sludge stabilization in three different sludge treatment wetlands. 61
30952043 2019
28
Fate of antibiotics in three distinct sludge treatment wetlands under different operating conditions. 61
30933800 2019
29
Stereoisomeric profiling of chiral pharmaceutically active compounds in wastewaters and the receiving environment - A catchment-scale and a laboratory study. 61
30981914 2019
30
Heavy metals distribution and their bioavailability in earthworm assistant sludge treatment wetland. 61
30579227 2019
31
Assessment of bisphenol-A in the urban water cycle. 61
30308864 2019
32
Biological Effects of Thermal Water-Associated Hydrogen Sulfide on Human Airways and Associated Immune Cells: Implications for Respiratory Diseases. 61
31231626 2019
33
Rhabdomyolysis in Stuve-Wiedemann syndrome. 61
29437806 2018
34
Modeling Cryptosporidium and Giardia in Ground and Surface Water Sources in Rural India: Associations with Latrines, Livestock, Damaged Wells, and Rainfall Patterns. 61
27310009 2016
35
Neuropathies of Stüve-Wiedemann Syndrome due to mutations in leukemia inhibitory factor receptor (LIFR) gene. 61
28058407 2016
36
Formation of spiral waves with substructure in a bursting media. 61
26723144 2015
37
Stuve-Wiedemann syndrome with a novel mutation. 61
26323980 2015
38
Effects of leukemia inhibitory receptor gene mutations on human hypothalamo-pituitary-adrenal function. 61
25145448 2015
39
Bilateral giant retinal tears in a pediatric patient with leukemia inhibitory factor receptor deficiency (Stuve-Wiedemann syndrome). 61
25876185 2015
40
Arsenic mitigation in Bangladesh: an analysis of institutional stakeholders' opinions. 61
24290438 2014
41
Long-term follow-up in Stuve-Wiedemann syndrome: a case report with articular involvement. 61
24477277 2014
42
Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology. 61
24618404 2014
43
Degradation of aqueous Rhodamine B by plasma generated along the water surface and its enhancement using nanocrystalline Fe-, Mn-, and Ce-doped TiO₂ films. 61
24840355 2014
44
Efficient generation of H2 by splitting water with an isothermal redox cycle. 61
23908235 2013
45
One in three: congenital bent bone disease and intermittent hyperthermia in three siblings with stuve-wiedemann syndrome. 61
23862038 2013
46
Delayed Tetraplegia After Thoracolumbar Scoliosis Surgery in Stuve-Wiedemann Syndrome. 61
27927326 2013
47
High-frequency phosphorus monitoring of the River Kennet, UK: are ecological problems due to intermittent sewage treatment works failures? 61
23104042 2012
48
Ocular treatment of children with Stuve-Wiedemann syndrome. 61
22316651 2012
49
Chemotaxis induced by SXWS tetrapeptides in Tetrahymena--overlapping chemotactic effects of SXWS sequences and their identical amino acids. 61
22213448 2012
50
Stuve-Wiedemann syndrome: a skeletal dysplasia characterized by bowed long bones. 61
21337444 2011

Variations for Stuve-Wiedemann Syndrome

ClinVar genetic disease variations for Stuve-Wiedemann Syndrome:

6 (show top 50) (show all 242) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LIFR NM_001127671.2(LIFR):c.503C>G (p.Ser168Ter)SNV Pathogenic 561052 rs779829941 5:38523579-38523579 5:38523477-38523477
2 IL6ST NM_002184.4(IL6ST):c.841C>T (p.Arg281Ter)SNV Pathogenic 635407 5:55256362-55256362 5:55960534-55960534
3 IL6ST NC_000005.10:g.55247753A>GSNV Pathogenic 638017 5:54543581-54543581 5:55247753-55247753
4 LIFR NM_001127671.2(LIFR):c.274C>T (p.Gln92Ter)SNV Pathogenic 816860 5:38527380-38527380 5:38527278-38527278
5 LIFR NM_001127671.2(LIFR):c.1789C>T (p.Arg597Ter)SNV Pathogenic 14460 rs121912501 5:38496580-38496580 5:38496478-38496478
6 LIFR NM_001127671.2(LIFR):c.2013dup (p.Met672fs)duplication Pathogenic 14461 rs1430793861 5:38493759-38493760 5:38493657-38493658
7 LIFR NM_001127671.2(LIFR):c.167_170TAAC[1] (p.Asn58fs)short repeat Pathogenic 14462 rs1561179853 5:38528911-38528914 5:38528809-38528812
8 LIFR NM_001127671.2(LIFR):c.2170C>G (p.Pro724Ala)SNV Pathogenic 217274 rs863225047 5:38489345-38489345 5:38489243-38489243
9 LIFR NM_001127671.2(LIFR):c.653dup (p.Glu219fs)duplication Pathogenic 281444 rs886042160 5:38511974-38511975 5:38511872-38511873
10 LIFR NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter)SNV Pathogenic/Likely pathogenic 189235 rs199775294 5:38490385-38490385 5:38490283-38490283
11 LIFR NM_001127671.2(LIFR):c.2444C>G (p.Thr815Arg)SNV Likely pathogenic 834053 5:38485974-38485974 5:38485872-38485872
12 LIFR NM_001127671.2(LIFR):c.1578del (p.Lys526fs)deletion Likely pathogenic 506000 rs1554020702 5:38502761-38502761 5:38502659-38502659
13 LIFR NM_001127671.2(LIFR):c.3060G>A (p.Glu1020=)SNV Conflicting interpretations of pathogenicity 763325 5:38481931-38481931 5:38481829-38481829
14 LIFR NM_001127671.2(LIFR):c.1965C>T (p.Cys655=)SNV Conflicting interpretations of pathogenicity 758925 5:38493808-38493808 5:38493706-38493706
15 LIFR NM_001127671.2(LIFR):c.2671-10T>GSNV Conflicting interpretations of pathogenicity 751432 5:38482330-38482330 5:38482228-38482228
16 LIFR NM_001127671.2(LIFR):c.364A>G (p.Thr122Ala)SNV Conflicting interpretations of pathogenicity 283380 rs145163157 5:38527290-38527290 5:38527188-38527188
17 LIFR NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn)SNV Conflicting interpretations of pathogenicity 235543 rs79040751 5:38493836-38493836 5:38493734-38493734
18 LIFR NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly)SNV Conflicting interpretations of pathogenicity 194624 rs139848756 5:38489213-38489213 5:38489111-38489111
19 LIFR NM_001127671.2(LIFR):c.1338A>G (p.Ser446=)SNV Conflicting interpretations of pathogenicity 353626 rs770514781 5:38504177-38504177 5:38504075-38504075
20 LIFR NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys)SNV Conflicting interpretations of pathogenicity 353605 rs3729751 5:38481703-38481703 5:38481601-38481601
21 LIFR NM_001127671.2(LIFR):c.28C>T (p.Arg10Ter)SNV Conflicting interpretations of pathogenicity 631966 rs3729732 5:38530722-38530722 5:38530620-38530620
22 LIFR NM_001127671.2(LIFR):c.143-37GT[11]short repeat Conflicting interpretations of pathogenicity 353636 rs10637374 5:38528952-38528957 5:38528850-38528855
23 LIFR NM_001127671.2(LIFR):c.143-37GT[13]short repeat Conflicting interpretations of pathogenicity 353634 rs10637374 5:38528952-38528953 5:38528850-38528851
24 LIFR NM_001127671.2(LIFR):c.2934G>A (p.Gln978=)SNV Conflicting interpretations of pathogenicity 353608 rs148354076 5:38482057-38482057 5:38481955-38481955
25 LIFR NM_001127671.2(LIFR):c.992-15dupduplication Uncertain significance 353628 rs773048780 5:38506741-38506742 5:38506639-38506640
26 LIFR NM_001127671.2(LIFR):c.*1302T>GSNV Uncertain significance 353588 rs886060621 5:38480395-38480395 5:38480293-38480293
27 LIFR NM_001127671.2(LIFR):c.*1051C>TSNV Uncertain significance 353590 rs189674684 5:38480646-38480646 5:38480544-38480544
28 LIFR NM_001127671.2(LIFR):c.*987C>TSNV Uncertain significance 353593 rs886060622 5:38480710-38480710 5:38480608-38480608
29 LIFR NM_001127671.2(LIFR):c.*984T>CSNV Uncertain significance 353594 rs558681338 5:38480713-38480713 5:38480611-38480611
30 LIFR NM_001127671.2(LIFR):c.*648C>GSNV Uncertain significance 353596 rs886060624 5:38481049-38481049 5:38480947-38480947
31 LIFR NM_002310.6(LIFR):c.-90T>CSNV Uncertain significance 353640 rs559787973 5:38595433-38595433 5:38595331-38595331
32 LIFR NM_001127671.2(LIFR):c.*4801A>GSNV Uncertain significance 353546 rs555849365 5:38476896-38476896 5:38476794-38476794
33 LIFR NM_001127671.2(LIFR):c.*4417A>GSNV Uncertain significance 353550 rs886060614 5:38477280-38477280 5:38477178-38477178
34 LIFR NM_001127671.2(LIFR):c.*2910G>ASNV Uncertain significance 353567 rs368109984 5:38478787-38478787 5:38478685-38478685
35 LIFR NM_001127671.2(LIFR):c.*2476G>TSNV Uncertain significance 353571 rs555848744 5:38479221-38479221 5:38479119-38479119
36 LIFR NM_001127671.2(LIFR):c.*2138dupduplication Uncertain significance 353573 rs141563662 5:38479558-38479559 5:38479456-38479457
37 LIFR NM_001127671.2(LIFR):c.*1859A>CSNV Uncertain significance 353577 rs772252918 5:38479838-38479838 5:38479736-38479736
38 LIFR NM_001127671.2(LIFR):c.*1854C>TSNV Uncertain significance 353579 rs886060619 5:38479843-38479843 5:38479741-38479741
39 LIFR NM_001127671.2(LIFR):c.2728G>T (p.Val910Phe)SNV Uncertain significance 353612 rs886060629 5:38482263-38482263 5:38482161-38482161
40 LIFR NM_001127671.2(LIFR):c.1756G>T (p.Glu586Ter)SNV Uncertain significance 353624 rs754527323 5:38496613-38496613 5:38496511-38496511
41 LIFR NM_001127671.2(LIFR):c.1304C>T (p.Thr435Ile)SNV Uncertain significance 353627 rs764228036 5:38504211-38504211 5:38504109-38504109
42 LIFR NM_001127671.2(LIFR):c.819T>C (p.Ser273=)SNV Uncertain significance 353630 rs756161883 5:38510738-38510738 5:38510636-38510636
43 LIFR NM_001127671.2(LIFR):c.143-37GT[12]short repeat Uncertain significance 353635 rs10637374 5:38528952-38528955 5:38528850-38528853
44 LIFR NM_001127671.2(LIFR):c.-19-10C>TSNV Uncertain significance 353638 rs775849083 5:38530778-38530778 5:38530676-38530676
45 LIFR NM_001127671.2(LIFR):c.*368A>CSNV Uncertain significance 353601 rs886060625 5:38481329-38481329 5:38481227-38481227
46 LIFR NM_001127671.2(LIFR):c.16G>A (p.Val6Ile)SNV Uncertain significance 353637 rs373771721 5:38530734-38530734 5:38530632-38530632
47 LIFR NM_002310.6(LIFR):c.-28G>ASNV Uncertain significance 353639 rs886060632 5:38595371-38595371 5:38595269-38595269
48 LIFR NM_002310.6(LIFR):c.-118G>ASNV Uncertain significance 353641 rs573436558 5:38595461-38595461 5:38595359-38595359
49 LIFR NM_002310.6(LIFR):c.-129T>GSNV Uncertain significance 353642 rs55892837 5:38595472-38595472 5:38595370-38595370
50 LIFR NM_002310.6(LIFR):c.-139G>ASNV Uncertain significance 353643 rs373489850 5:38595482-38595482 5:38595380-38595380

UniProtKB/Swiss-Prot genetic disease variations for Stuve-Wiedemann Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 LIFR p.Ser279Pro VAR_025666

Expression for Stuve-Wiedemann Syndrome

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

Pathways for Stuve-Wiedemann Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.25 LIFR IL6ST
2
Show member pathways
12.2 LIFR IL6ST
3
Show member pathways
11.83 LIFR IL6ST
4
Show member pathways
11.74 LIFR IL6ST
5
Show member pathways
11.69 LIFR IL6ST
6 11.48 LIFR IL6ST
7 11.38 LIFR IL6ST
8
Show member pathways
10.92 LIFR IL6ST
9 10.35 LIFR IL6ST
10 9.9 LIFR IL6ST

GO Terms for Stuve-Wiedemann Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 8.96 LIFR IL6ST
2 receptor complex GO:0043235 8.62 LIFR IL6ST

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.37 LIFR IL6ST
2 cytokine-mediated signaling pathway GO:0019221 9.32 LIFR IL6ST
3 response to cytokine GO:0034097 9.26 LIFR IL6ST
4 ciliary neurotrophic factor-mediated signaling pathway GO:0070120 9.16 LIFR IL6ST
5 leukemia inhibitory factor signaling pathway GO:0048861 8.96 LIFR IL6ST
6 oncostatin-M-mediated signaling pathway GO:0038165 8.62 LIFR IL6ST

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

# Name GO ID Score Top Affiliating Genes
1 cytokine receptor activity GO:0004896 9.4 LIFR IL6ST
2 growth factor binding GO:0019838 9.37 LIFR IL6ST
3 cytokine binding GO:0019955 9.32 LIFR IL6ST
4 ciliary neurotrophic factor receptor binding GO:0005127 9.26 LIFR IL6ST
5 oncostatin-M receptor activity GO:0004924 9.16 LIFR IL6ST
6 leukemia inhibitory factor receptor activity GO:0004923 8.96 LIFR IL6ST
7 ciliary neurotrophic factor receptor activity GO:0004897 8.62 LIFR IL6ST

Sources for Stuve-Wiedemann 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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