STWS
MCID: STV003
MIFTS: 52

Stuve-Wiedemann Syndrome (STWS)

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

Aliases & Classifications for Stuve-Wiedemann Syndrome

MalaCards integrated aliases for Stuve-Wiedemann Syndrome:

Name: Stuve-Wiedemann Syndrome 57 20 43 58 36 54 70
Sjs2 57 20 43 58 72
Stuve-Wiedemann/schwartz-Jampel Type 2 Syndrome 57 20 43 72
Stws 57 20 43 72
Schwartz-Jampel Syndrome Type 2 20 58 72
Stuve-Wiedemann Dysplasia 43 58 70
Stüve-Wiedemann Syndrome 43 29 6
Sws 57 43 72
Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome 57 13
Schwartz-Jampel Syndrome, Neonatal 57 72
Neonatal Schwartz-Jampel Syndrome 43 58
Neonatal Schwartz-Jampel Syndrome Type 2 20
Schwartz-Jampel Syndrome, Type 2; Sjs2 57
Schwartz-Jampel Syndrome Neonatal 20
Schwartz-Jampel Syndrome, Type 2 57
Schwartz-Jampel Type 2 Syndrome 43
Stueve-Wiedemann Syndrome 72
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®:

57 (Updated 05-Apr-2021)
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

MedlinePlus Genetics : 43 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 leukemia, 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 hyperhidrosis and skeletal dysplasia

GARD : 20 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® : 57 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) (Updated 05-Apr-2021)

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 : 72 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 68)
# Related Disease Score Top Affiliating Genes
1 scoliosis 29.9 LIFR IL6ST
2 leukemia 29.9 LIFR IL6ST
3 sturge-weber syndrome 11.8
4 schwartz-jampel syndrome, type 1 11.4
5 dysautonomia 10.5
6 hemophagocytic lymphohistiocytosis, familial, 1 10.5
7 hemophagocytic lymphohistiocytosis, familial, 2 10.5
8 autosomal recessive disease 10.3
9 bone disease 10.3
10 campomelic dysplasia and related disorders 10.3
11 cold-induced sweating syndrome including crisponi syndrome 10.3
12 hypotonia 10.3
13 myotonia 10.3
14 weber syndrome 10.1
15 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 10.1
16 cold-induced sweating syndrome 10.1
17 megaloblastic anemia 10.1
18 thrombocytopenia 10.1
19 malignant hyperthermia susceptibility 10.1
20 congenital contractures 10.1
21 cytokine deficiency 10.1
22 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 10.1
23 primary bone dysplasia 10.1
24 lethal chondrodysplasia 10.1
25 keratitis, hereditary 10.1
26 retinal detachment 10.1
27 neuropathy, hereditary sensory and autonomic, type iii 10.1
28 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.1
29 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.1
30 pulmonary hypertension 10.1
31 respiratory failure 10.1
32 leukocoria 10.1
33 oligohydramnios 10.1
34 quadriplegia 10.1
35 lactic acidosis 10.1
36 corneal ulcer 10.1
37 malignant hyperthermia 10.1
38 dysphagia 10.1
39 yemenite deaf-blind hypopigmentation syndrome 10.0
40 intraocular pressure quantitative trait locus 10.0
41 paraplegia 10.0
42 gordon holmes syndrome 9.8
43 laurence-moon syndrome 9.8
44 enhanced s-cone syndrome 9.8
45 oliver-mcfarlane syndrome 9.8
46 aging 9.8
47 macular degeneration, age-related, 1 9.8
48 gastrointestinal stromal tumor 9.8
49 major depressive disorder 9.8
50 spastic paraplegia 39, autosomal recessive 9.8

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 90)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000975
2 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
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 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
16 genu valgum 58 31 frequent (33%) Frequent (79-30%) HP:0002857
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 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
32 abnormality of the dentition 58 31 occasional (7.5%) Occasional (29-5%) HP:0000164
33 sacral dimple 58 31 occasional (7.5%) Occasional (29-5%) HP:0000960
34 decreased corneal reflex 58 31 occasional (7.5%) Occasional (29-5%) HP:0008000
35 absent patellar reflexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0006844
36 ectopic thyroid 58 31 occasional (7.5%) Occasional (29-5%) HP:0100028
37 hypotonia 31 occasional (7.5%) HP:0001252
38 frontal bossing 31 HP:0002007
39 dysphagia 31 HP:0002015
40 short neck 31 HP:0000470
41 muscular hypotonia 58 Occasional (29-5%)
42 respiratory insufficiency 31 HP:0002093
43 dysautonomia 58 Very frequent (99-80%)
44 bowing of the long bones 58 Very frequent (99-80%)
45 abnormal cortical bone morphology 58 Very frequent (99-80%)
46 short nose 31 HP:0003196
47 flexion contracture 58 Frequent (79-30%)
48 myotonia 31 HP:0002486
49 abnormality of the metaphysis 58 Very frequent (99-80%)
50 opacification of the corneal stroma 31 HP:0007759

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Face:
frontal bossing
micrognathia
square face
midface hypoplasia
facial myotonia

Respiratory:
respiratory insufficiency
apnea

Head And Neck Nose:
short nose
wide nasal base

Head And Neck Ears:
low-set ears

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

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 Neck:
short neck

Neurologic Central Nervous System:
dysautonomia
normal intelligence

Skeletal:
osteoporosis
spontaneous fracture (in older children)

Voice:
hoarse voice
hypernasal voice

Respiratory Lung:
pulmonary hypoplasia

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 (Updated 05-Apr-2021)

UMLS symptoms related to Stuve-Wiedemann Syndrome:


apnea; hoarseness

Drugs & Therapeutics for Stuve-Wiedemann Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Double-blind, Randomised, Placebo-controlled Study on the Efficacy of Iberogast® (STW5) in Patients With Irritable Bowel Syndrome Completed NCT01940848 Phase 3 STW5 (Iberogast, BAY98-7411);Placebo
2 A Double-blind, Randomised, Placebo-controlled Study on the Efficacy of Iberogast® (STW 5) in Patients With Functional Dyspepsia and Concomitant Reflux Symptoms Measured With Impedance and Wireless pH Monitoring Completed NCT04059900 Phase 2 STW5 (Iberogast®, BAY98-7411);Placebo
3 Comparison of the Therapeutic Effect of Acupressure Therapy and Iberogast ® (STW-5) in Children With Functional Nausea - a Randomized Clinical Trial With Sham-conditions Completed NCT02660970 Iberogast

Search 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, Cortex, Thyroid, Pituitary

Publications for Stuve-Wiedemann Syndrome

Articles related to Stuve-Wiedemann Syndrome:

(show top 50) (show all 105)
# Title Authors PMID Year
1
Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy. 57 61 6
25540807 2014
2
Stuve-Wiedemann syndrome: is it underrecognized? 61 57 6
24988918 2014
3
Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report. 61 6 57
18546280 2008
4
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. 61 6 57
14740318 2004
5
Cardiovascular abnormalities associated with the Stuve-Wiedemann syndrome. 61 57
12910496 2003
6
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. 6
26752647 2016
7
Stüve-Wiedemann syndrome in children surviving infancy: clinical and radiological features. 57
12514358 2003
8
Characterization of a long-term survivor with Stüve-Wiedemann syndrome and mosaicism of a supernumerary marker chromosome. 57
11424139 2001
9
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2. 57
9674905 1998
10
Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping". 57
9674906 1998
11
Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain. 57
9382147 1997
12
Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1. 57
9279765 1997
13
Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia. 57
9083764 1997
14
Stüve-Wiedemann dysplasia in a 3 1/2-year-old boy. 57
8723081 1996
15
Stüve-Wiedemann syndrome: update and historical footnote. 57
8723080 1996
16
Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates. 57
8728692 1996
17
The Schwartz-Jampel syndrome. 57
8298738 1993
18
Neonatal manifestations of Schwartz-Jampel syndrome. 57
3321990 1987
19
Congenital bowing of the long bones in two sisters. 57
4105362 1971
20
Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature. 61
33305909 2021
21
The interactions between spin wave and stacked domain walls. 61
33152722 2021
22
Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy. 61
33517393 2021
23
Occurrence and distribution of five antibiotic resistance genes during the loading period in sludge treatment wetlands. 61
32771773 2020
24
Sulfurous thermal waters stimulate the osteogenic differentiation of human mesenchymal stromal cells - An in vitro study. 61
32531680 2020
25
Effect of passive ventilation on the performance of unplanted sludge treatment wetlands: heavy metal removal and microbial community variation. 61
32500490 2020
26
Assessing the potential of enhanced primary clarification to manage fats, oils and grease (FOG) at wastewater treatment works. 61
32348944 2020
27
Effects of loading rates and plant species on sludge characteristics in earthworm assistant sludge treatment wetlands. 61
32416508 2020
28
Outcomes and Characteristics of Wound Healing in an Outpatient Physical Therapy Clinic. 61
32804663 2020
29
Ecological risks of heavy metals/metalloid discharged from two sewage treatment works to Mai Po Ramsar site, South China. 61
32602080 2020
30
Deciphering of organic matter and nutrient removal and bacterial community in three sludge treatment wetlands under different operating conditions. 61
32090846 2020
31
Evaluation of the fate of nutrients, antibiotics, and antibiotic resistance genes in sludge treatment wetlands. 61
31945537 2020
32
Characterisation and energy assessment of fats, oils and greases (FOG) waste at catchment level. 61
31945709 2020
33
Fate of antibiotics in three distinct sludge treatment wetlands under different operating conditions. 61
30933800 2019
34
Stereoisomeric profiling of chiral pharmaceutically active compounds in wastewaters and the receiving environment - A catchment-scale and a laboratory study. 61
30981914 2019
35
Seasonal dynamics of bacterial communities associated with antibiotic removal and sludge stabilization in three different sludge treatment wetlands. 61
30952043 2019
36
Fate of antibiotics and the related antibiotic resistance genes during sludge stabilization in sludge treatment wetlands. 61
30831502 2019
37
Heavy metals distribution and their bioavailability in earthworm assistant sludge treatment wetland. 61
30579227 2019
38
Assessment of bisphenol-A in the urban water cycle. 61
30308864 2019
39
Biological Effects of Thermal Water-Associated Hydrogen Sulfide on Human Airways and Associated Immune Cells: Implications for Respiratory Diseases. 61
31231626 2019
40
Rhabdomyolysis in Stuve-Wiedemann syndrome. 61
29437806 2018
41
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
42
Neuropathies of Stüve-Wiedemann Syndrome due to mutations in leukemia inhibitory factor receptor (LIFR) gene. 61
28058407 2016
43
Formation of spiral waves with substructure in a bursting media. 61
26723144 2015
44
Stuve-Wiedemann syndrome with a novel mutation. 61
26323980 2015
45
Effects of leukemia inhibitory receptor gene mutations on human hypothalamo-pituitary-adrenal function. 61
25145448 2015
46
Bilateral giant retinal tears in a pediatric patient with leukemia inhibitory factor receptor deficiency (Stuve-Wiedemann syndrome). 61
25876185 2015
47
Arsenic mitigation in Bangladesh: an analysis of institutional stakeholders' opinions. 61
24290438 2014
48
Long-term follow-up in Stuve-Wiedemann syndrome: a case report with articular involvement. 61
24477277 2014
49
Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology. 61
24618404 2014
50
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

Variations for Stuve-Wiedemann Syndrome

ClinVar genetic disease variations for Stuve-Wiedemann Syndrome:

6 (show top 50) (show all 263)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LIFR NM_001127671.2(LIFR):c.1789C>T (p.Arg597Ter) SNV Pathogenic 14460 rs121912501 GRCh37: 5:38496580-38496580
GRCh38: 5:38496478-38496478
2 LIFR NM_001127671.2(LIFR):c.2013dup (p.Met672fs) Duplication Pathogenic 14461 rs1430793861 GRCh37: 5:38493759-38493760
GRCh38: 5:38493657-38493658
3 LIFR NM_001127671.2(LIFR):c.167_170TAAC[1] (p.Asn58fs) Microsatellite Pathogenic 14462 rs1561179853 GRCh37: 5:38528911-38528914
GRCh38: 5:38528809-38528812
4 LIFR NM_001127671.2(LIFR):c.2170C>G (p.Pro724Ala) SNV Pathogenic 217274 rs863225047 GRCh37: 5:38489345-38489345
GRCh38: 5:38489243-38489243
5 LIFR NM_001127671.2(LIFR):c.653dup (p.Glu219fs) Duplication Pathogenic 281444 rs886042160 GRCh37: 5:38511974-38511975
GRCh38: 5:38511872-38511873
6 LIFR NM_001127671.2(LIFR):c.503C>G (p.Ser168Ter) SNV Pathogenic 561052 rs779829941 GRCh37: 5:38523579-38523579
GRCh38: 5:38523477-38523477
7 LIFR NM_001127671.2(LIFR):c.274C>T (p.Gln92Ter) SNV Pathogenic 816860 rs1580117891 GRCh37: 5:38527380-38527380
GRCh38: 5:38527278-38527278
8 IL6ST NM_002184.4(IL6ST):c.841C>T (p.Arg281Ter) SNV Pathogenic 635407 rs1580817729 GRCh37: 5:55256362-55256362
GRCh38: 5:55960534-55960534
9 IL6ST NC_000005.10:g.55247753A>G SNV Pathogenic 638017 rs1579734448 GRCh37: 5:54543581-54543581
GRCh38: 5:55247753-55247753
10 LIFR NM_001127671.2(LIFR):c.2444C>G (p.Thr815Arg) SNV Likely pathogenic 834053 GRCh37: 5:38485974-38485974
GRCh38: 5:38485872-38485872
11 LIFR NM_001127671.2(LIFR):c.912_915del (p.Ile304fs) Deletion Likely pathogenic 817458 rs1561159768 GRCh37: 5:38510642-38510645
GRCh38: 5:38510540-38510543
12 LIFR NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter) SNV Likely pathogenic 189235 rs199775294 GRCh37: 5:38490385-38490385
GRCh38: 5:38490283-38490283
13 LIFR NM_001127671.2(LIFR):c.1578del (p.Lys526fs) Deletion Likely pathogenic 506000 rs1554020702 GRCh37: 5:38502761-38502761
GRCh38: 5:38502659-38502659
14 LIFR NM_001127671.2(LIFR):c.143-37GT[11] Microsatellite Conflicting interpretations of pathogenicity 353636 rs10637374 GRCh37: 5:38528952-38528957
GRCh38: 5:38528850-38528855
15 LIFR NM_001127671.2(LIFR):c.143-37GT[13] Microsatellite Conflicting interpretations of pathogenicity 353634 rs10637374 GRCh37: 5:38528952-38528953
GRCh38: 5:38528850-38528851
16 LIFR NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly) SNV Conflicting interpretations of pathogenicity 194624 rs139848756 GRCh37: 5:38489213-38489213
GRCh38: 5:38489111-38489111
17 LIFR NM_001127671.2(LIFR):c.2934G>A (p.Gln978=) SNV Uncertain significance 353608 rs148354076 GRCh37: 5:38482057-38482057
GRCh38: 5:38481955-38481955
18 LIFR NM_001127671.2(LIFR):c.406C>G (p.Pro136Ala) SNV Uncertain significance 811716 rs761024368 GRCh37: 5:38523676-38523676
GRCh38: 5:38523574-38523574
19 LIFR NM_001127671.2(LIFR):c.3060G>A (p.Glu1020=) SNV Uncertain significance 763325 rs537706381 GRCh37: 5:38481931-38481931
GRCh38: 5:38481829-38481829
20 LIFR NM_001127671.2(LIFR):c.2671-10T>G SNV Uncertain significance 751432 rs201596849 GRCh37: 5:38482330-38482330
GRCh38: 5:38482228-38482228
21 LIFR NM_001127671.2(LIFR):c.1965C>T (p.Cys655=) SNV Uncertain significance 758925 rs767618083 GRCh37: 5:38493808-38493808
GRCh38: 5:38493706-38493706
22 LIFR NM_001127671.2(LIFR):c.737G>T (p.Trp246Leu) SNV Uncertain significance 1029587 GRCh37: 5:38510820-38510820
GRCh38: 5:38510718-38510718
23 LIFR NM_001127671.2(LIFR):c.2642C>T (p.Ala881Val) SNV Uncertain significance 990384 GRCh37: 5:38482719-38482719
GRCh38: 5:38482617-38482617
24 LIFR NM_001127671.2(LIFR):c.*415A>G SNV Uncertain significance 906389 GRCh37: 5:38481282-38481282
GRCh38: 5:38481180-38481180
25 LIFR NM_001127671.2(LIFR):c.1417T>C (p.Ser473Pro) SNV Uncertain significance 723161 rs543824186 GRCh37: 5:38504098-38504098
GRCh38: 5:38503996-38503996
26 LIFR NM_001127671.2(LIFR):c.96A>G (p.Thr32=) SNV Uncertain significance 751585 rs771905123 GRCh37: 5:38530654-38530654
GRCh38: 5:38530552-38530552
27 LIFR NM_001127671.2(LIFR):c.231T>C (p.Thr77=) SNV Uncertain significance 990386 GRCh37: 5:38528854-38528854
GRCh38: 5:38528752-38528752
28 LIFR NM_001127671.2(LIFR):c.183A>C (p.Gln61His) SNV Uncertain significance 990387 GRCh37: 5:38528902-38528902
GRCh38: 5:38528800-38528800
29 LIFR NM_001127671.2(LIFR):c.553G>A (p.Val185Ile) SNV Uncertain significance 765571 rs140538535 GRCh37: 5:38523529-38523529
GRCh38: 5:38523427-38523427
30 LIFR NM_001127671.2(LIFR):c.808T>G (p.Cys270Gly) SNV Uncertain significance 996061 GRCh37: 5:38510749-38510749
GRCh38: 5:38510647-38510647
31 LIFR NM_001127671.2(LIFR):c.2401C>G (p.Leu801Val) SNV Uncertain significance 906454 GRCh37: 5:38486017-38486017
GRCh38: 5:38485915-38485915
32 LIFR NM_001127671.2(LIFR):c.562-12G>A SNV Uncertain significance 906501 GRCh37: 5:38512078-38512078
GRCh38: 5:38511976-38511976
33 LIFR NM_001127671.2(LIFR):c.258G>T (p.Arg86Ser) SNV Uncertain significance 906502 GRCh37: 5:38527396-38527396
GRCh38: 5:38527294-38527294
34 LIFR NM_001127671.2(LIFR):c.*6491A>G SNV Uncertain significance 907136 GRCh37: 5:38475206-38475206
GRCh38: 5:38475104-38475104
35 LIFR NM_001127671.2(LIFR):c.*6483C>A SNV Uncertain significance 907137 GRCh37: 5:38475214-38475214
GRCh38: 5:38475112-38475112
36 LIFR NM_001127671.2(LIFR):c.*6395T>C SNV Uncertain significance 907138 GRCh37: 5:38475302-38475302
GRCh38: 5:38475200-38475200
37 LIFR NM_001127671.2(LIFR):c.*6386A>G SNV Uncertain significance 907139 GRCh37: 5:38475311-38475311
GRCh38: 5:38475209-38475209
38 LIFR NM_001127671.2(LIFR):c.*5060T>A SNV Uncertain significance 907201 GRCh37: 5:38476637-38476637
GRCh38: 5:38476535-38476535
39 LIFR NM_001127671.2(LIFR):c.*5004A>G SNV Uncertain significance 907202 GRCh37: 5:38476693-38476693
GRCh38: 5:38476591-38476591
40 LIFR NM_001127671.2(LIFR):c.*4841G>A SNV Uncertain significance 907203 GRCh37: 5:38476856-38476856
GRCh38: 5:38476754-38476754
41 LIFR NM_001127671.2(LIFR):c.*4799A>G SNV Uncertain significance 907204 GRCh37: 5:38476898-38476898
GRCh38: 5:38476796-38476796
42 LIFR NM_001127671.2(LIFR):c.*3182G>A SNV Uncertain significance 907265 GRCh37: 5:38478515-38478515
GRCh38: 5:38478413-38478413
43 LIFR NM_001127671.2(LIFR):c.*3163T>A SNV Uncertain significance 907266 GRCh37: 5:38478534-38478534
GRCh38: 5:38478432-38478432
44 LIFR NM_001127671.2(LIFR):c.*3162T>G SNV Uncertain significance 907267 GRCh37: 5:38478535-38478535
GRCh38: 5:38478433-38478433
45 LIFR NM_001127671.2(LIFR):c.*3085G>T SNV Uncertain significance 907268 GRCh37: 5:38478612-38478612
GRCh38: 5:38478510-38478510
46 LIFR NM_001127671.2(LIFR):c.*3074A>G SNV Uncertain significance 907269 GRCh37: 5:38478623-38478623
GRCh38: 5:38478521-38478521
47 LIFR NM_001127671.2(LIFR):c.*1474T>G SNV Uncertain significance 907332 GRCh37: 5:38480223-38480223
GRCh38: 5:38480121-38480121
48 LIFR NM_001127671.2(LIFR):c.*320C>T SNV Uncertain significance 907393 GRCh37: 5:38481377-38481377
GRCh38: 5:38481275-38481275
49 LIFR NM_001127671.2(LIFR):c.*212T>C SNV Uncertain significance 907394 GRCh37: 5:38481485-38481485
GRCh38: 5:38481383-38481383
50 LIFR NM_001127671.2(LIFR):c.*10C>T SNV Uncertain significance 907395 GRCh37: 5:38481687-38481687
GRCh38: 5:38481585-38481585

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

72
# 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 leukemia inhibitory factor signaling pathway GO:0048861 9.16 LIFR IL6ST
5 oncostatin-M-mediated signaling pathway GO:0038165 8.96 LIFR IL6ST
6 ciliary neurotrophic factor-mediated signaling pathway GO:0070120 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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