MYHRS
MCID: MYH012
MIFTS: 43

Myhre Syndrome (MYHRS)

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

Aliases & Classifications for Myhre Syndrome

MalaCards integrated aliases for Myhre Syndrome:

Name: Myhre Syndrome 56 74 24 52 25 58 73 36 29 13 6 39
Laryngotracheal Stenosis, Arthropathy, Prognathism, and Short Stature 56 52 25
Laps Syndrome 56 52 25
Growth-Mental Deficiency Syndrome of Myhre 56 73
Growth Mental Deficiency Syndrome of Myhre 52 71
Myhrs 56 73
Laryngotracheal Stenosis, Arthropathy, Prognathism, and Short Stature; Laps Syndrome 56
Facial Dysmorphism-Intellectual Disability-Short Stature-Hearing Loss Syndrome 58
Laryngotracheal Stenosis, Arthropathy, Prognathism, Short Stature Syndrome 24
Facial Dysmorphism-Intellectual Disability-Short Stature-Deafness Syndrome 58
Facial Dysmorphism - Intellectual Deficit - Short Stature - Hearing Loss 52
Myhre-Laps Syndrome 24

Characteristics:

Orphanet epidemiological data:

58
myhre syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
associated with advanced paternal age
all reported cases have occurred sporadically
clinical features may vary


HPO:

31
myhre syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance appears to be complete; however, no familial cases of myhre syndrome have been reported.

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Myhre Syndrome

Genetics Home Reference : 25 Myhre syndrome is a rare condition that affects connective tissue. Connective tissue provides strength and flexibility to structures throughout the body. Myhre syndrome has a variety of signs and symptoms that affect many parts of the body, though not everyone has all the possible features. The features of the condition can range in severity, and some features become more apparent with age. Common signs and symptoms of Myhre syndrome include short stature, skeletal abnormalities, limited joint mobility, characteristic facial features, intellectual and behavioral problems, hearing loss, a tendency for the buildup of scar tissue (fibrosis) in the skin and internal organs, and heart and lung abnormalities. Growth is reduced in most people with Myhre syndrome, beginning before birth and continuing through adolescence. Affected individuals usually have a low birth weight and are generally shorter than about 97 percent of their peers throughout life. They have shortened long bones of the arms and legs, unusually short fingers and toes (brachydactyly), and curved pinky fingers (fifth finger clinodactyly). Other skeletal abnormalities associated with this disorder include thickening of the skull bones, flattened bones of the spine (platyspondyly), broad ribs, and underdevelopment of the wing-shaped structures of the pelvis (hypoplastic iliac wings). Affected individuals often have joint problems (arthropathy), including stiffness and limited mobility. Typical facial features in people with Myhre syndrome include narrow openings of the eyelids (short palpebral fissures), deeply set eyes, a shortened distance between the nose and upper lip (a short philtrum), a narrow mouth with a thin upper lip, an underdeveloped upper jaw, and a protruding lower jaw (prognathism). Some affected individuals are born with an opening in the roof of the mouth (a cleft palate), a split in the lip (a cleft lip), or both. Vision problems are common in this disorder and can include eyes that do not point in the same direction (strabismus), nearsightedness (myopia), farsightedness (hyperopia), an irregular curvature of the front of the eye (astigmatism), clouding of the lenses (cataracts), or rarely, an abnormality of the back of the eye called pseudopapilledema. Children with Myhre syndrome have delayed development, which is noticeable by age 5. Speech and language delay are the most significant. Motor skills such as crawling and walking may be delayed, although children with Myhre syndrome eventually learn to walk. Most affected individuals have intellectual disability that ranges from mild to moderate, yet some are able to have jobs or pursue higher education. People with Myhre syndrome typically have behavioral problems like those in autism spectrum disorder, which affects communication and social interaction. These problems vary in severity, and they usually improve over time. Hearing loss occurs in most people with Myhre syndrome, usually beginning in childhood and gradually worsening. If not detected promptly, hearing problems can contribute to learning and behavioral problems. Fibrosis in Myhre syndrome can occur in the absence of injury (spontaneously) or develop following surgery or trauma. Affected individuals typically have stiff, thickened skin, usually beginning in childhood. Typically, the skin changes first appear on the palms of the hands, the soles of the feet, the back of the elbows, and the front of the knees. Eventually the skin thickens on other parts of the body. As a result of the thicker skin, affected individuals typically have fewer facial creases (wrinkles) than others of their age. Scars may be more noticeable or become unusually thickened after healing (keloids or hypertrophic scars). Individuals with Myhre syndrome often have problems with the structure of the heart that are present at birth (congenital heart defects). Fibrosis in the heart and blood vessels (cardiovascular system) can lead to the development of additional problems such as high blood pressure (hypertension) and narrowing (stenosis) of the heart valves or blood vessels. Other cardiovascular problems can include swelling and tightening of the pericardium, which is the membrane that surrounds the heart (pericarditis), and rarely, restrictive cardiomyopathy, in which the heart muscle is stiff and cannot fully relax after each contraction. These cardiovascular problems can be life-threatening. Abnormalities of the lungs and airways (respiratory tract) in people with Myhre syndrome include narrowing of the windpipe (laryngotracheal stenosis) and the passages leading from the windpipe to the lungs (bronchi); difficulty filling the lungs with air when inhaling (restrictive pulmonary disease); or widespread lung damage (interstitial lung disease). These respiratory tract problems can be life-threatening. Additional features of Myhre syndrome include problems in the gastrointestinal tract, such as narrowing of the lower part of the stomach (pyloric stenosis) or of the upper part of the small intestine (duodenal strictures) and severe constipation. People with Myhre syndrome also may have an increased risk of developing cancerous or noncancerous tumors, including cancer of the lining of the uterus (endometrial cancer).

MalaCards based summary : Myhre Syndrome, also known as laryngotracheal stenosis, arthropathy, prognathism, and short stature, is related to ruvalcaba churesigaew myhre syndrome and chromosome 8q22.1 duplication syndrome, and has symptoms including thick skin An important gene associated with Myhre Syndrome is SMAD4 (SMAD Family Member 4), and among its related pathways/superpathways are Cell cycle and Wnt signaling pathway. Affiliated tissues include heart, bone and skin, and related phenotypes are hearing impairment and intellectual disability

NIH Rare Diseases : 52 Myhre syndrome is a rare, connective tissue disorder that affects many parts of the body. Signs and symptoms include fibrosis (thickening and scarring of connective tissue ), intellectual disability , distinctive facial features, skeletal abnormalities, and/or various birth defects . The syndrome may affect the structure or function of the heart, the respiratory system, the gastrointestinal system, and the skin. Myhre syndrome is caused by a mutation in the SMAD4 gene . The mutation typically occurs for the first time in an affected person. To date, no reported cases have been inherited from a parent. Inheritance is autosomal dominant , but there are no reported cases of a person with Myhre syndrome having children. Treatment addresses each symptom present and may include limiting the risk of trauma to tissues, surgery for birth defects or complications, and routine management of learning delays or behavioral problems.

OMIM : 56 Myhre syndrome is a rare disorder characterized by mental retardation, dysmorphic facial features, including microcephaly, midface hypoplasia, prognathism, and blepharophimosis, typical skeletal anomalies, including short stature, square body shape, broad ribs, iliac hypoplasia, brachydactyly, flattened vertebrae, and thickened calvaria, and cardiovascular defects with a striking fibroproliferative response to surgical intervention. All reported cases have been sporadic (summary by Bachmann-Gagescu et al., 2011 and Lin et al., 2016). (139210)

KEGG : 36 Myhre syndrome is a developmental disorder characterized by reduced growth, generalized muscular hypertrophy, facial dysmorphism, deafness, cognitive deficits, joint stiffness, and skeletal anomalies. Heterozygous missense mutations in SMAD4 cause this disease. SMAD4 plays a pivotal role in the bone morphogenetic pathway and TGF-beta signaling.

UniProtKB/Swiss-Prot : 73 Myhre syndrome: A syndrome characterized by pre- and postnatal growth deficiency, mental retardation, generalized muscle hypertrophy and striking muscular build, decreased joint mobility, cryptorchidism, and unusual facies. Dysmorphic facial features include microcephaly, midface hypoplasia, prognathism, and blepharophimosis. Typical skeletal anomalies are short stature, square body shape, broad ribs, iliac hypoplasia, brachydactyly, flattened vertebrae, and thickened calvaria. Other features, such as congenital heart disease, may also occur.

Wikipedia : 74 Myhre syndrome is a rare genetic disorder inherited in an autosomal dominant fashion. It is caused by... more...

GeneReviews: NBK425723

Related Diseases for Myhre Syndrome

Diseases related to Myhre Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 ruvalcaba churesigaew myhre syndrome 12.3
2 chromosome 8q22.1 duplication syndrome 11.3
3 cowden syndrome 1 11.3
4 branchiootic syndrome 1 10.5
5 alacrima, achalasia, and mental retardation syndrome 10.4
6 muscle hypertrophy 10.3
7 brachydactyly 10.3
8 pericarditis 10.3
9 arthropathy 10.3
10 myopathy 10.2
11 blepharophimosis 10.2
12 tracheal stenosis 10.2
13 hypotonia 10.1
14 muscular lipidosis 10.1
15 coarctation of aorta 10.1
16 autism 10.1
17 cryptorchidism, unilateral or bilateral 10.1
18 constipation 10.1
19 restrictive cardiomyopathy 10.1
20 cardiac arrhythmia 10.0
21 sotos syndrome 1 10.0
22 peutz-jeghers syndrome 10.0
23 gombo syndrome 10.0
24 macrocephaly/megalencephaly syndrome, autosomal recessive 10.0
25 protein-energy malnutrition 10.0
26 megalencephaly 10.0
27 intestinal polyposis syndrome 10.0
28 cleft palate, isolated 10.0
29 ectopia pupillae 10.0
30 hair whorl 10.0
31 marfan syndrome 10.0
32 juvenile polyposis syndrome 10.0
33 tetralogy of fallot 10.0
34 vesicoureteral reflux 1 10.0
35 retinitis pigmentosa 10.0
36 focal dermal hypoplasia 10.0
37 ataxia and polyneuropathy, adult-onset 10.0
38 polydactyly 10.0
39 patent ductus arteriosus 1 10.0
40 endometrial cancer 10.0
41 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
42 pulmonary hypertension 10.0
43 autism spectrum disorder 10.0
44 adenoid hypertrophy 10.0
45 geleophysic dysplasia 10.0
46 neuroretinitis 10.0
47 constrictive pericarditis 10.0
48 hemopericardium 10.0
49 pericardial effusion 10.0
50 pyloric stenosis 10.0

Graphical network of the top 20 diseases related to Myhre Syndrome:



Diseases related to Myhre Syndrome

Symptoms & Phenotypes for Myhre Syndrome

Human phenotypes related to Myhre Syndrome:

58 31 (show top 50) (show all 99)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 58 31 very rare (1%) Very frequent (99-80%) HP:0000365
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 craniofacial hyperostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004493
5 mandibular prognathia 58 31 very rare (1%) Very frequent (99-80%) HP:0000303
6 joint stiffness 58 31 very rare (1%) Very frequent (99-80%) HP:0001387
7 large iliac wings 58 31 hallmark (90%) Very frequent (99-80%) HP:0008818
8 narrow mouth 58 31 very rare (1%) Very frequent (99-80%) HP:0000160
9 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
10 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
11 hypoplasia of the maxilla 58 31 hallmark (90%) Very frequent (99-80%) HP:0000327
12 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
13 abnormality of the ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000772
14 platyspondyly 58 31 very rare (1%) Very frequent (99-80%) HP:0000926
15 thin vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0000233
16 skeletal muscle hypertrophy 58 31 very rare (1%) Very frequent (99-80%) HP:0003712
17 midface retrusion 58 31 very rare (1%) Very frequent (99-80%) HP:0011800
18 short palm 58 31 hallmark (90%) Very frequent (99-80%) HP:0004279
19 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
20 abnormality of the pubic bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003172
21 emg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0003457
22 abnormality of the metaphysis 58 31 frequent (33%) Frequent (79-30%) HP:0000944
23 thickened skin 58 31 frequent (33%) Frequent (79-30%) HP:0001072
24 cryptorchidism 58 31 very rare (1%) Frequent (79-30%) HP:0000028
25 hypertension 58 31 very rare (1%) Frequent (79-30%) HP:0000822
26 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
27 abnormal cardiac septum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001671
28 abnormality of epiphysis morphology 58 31 frequent (33%) Frequent (79-30%) HP:0005930
29 blepharophimosis 58 31 frequent (33%) Frequent (79-30%) HP:0000581
30 high hypermetropia 58 31 frequent (33%) Frequent (79-30%) HP:0008499
31 short palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0012745
32 cataract 58 31 very rare (1%) Occasional (29-5%) HP:0000518
33 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
34 behavioral abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0000708
35 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
36 precocious puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000826
37 epispadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000039
38 bifid uvula 58 31 occasional (7.5%) Occasional (29-5%) HP:0000193
39 submucous cleft hard palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000176
40 hypogonadism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000135
41 unilateral cleft lip 58 31 occasional (7.5%) Occasional (29-5%) HP:0100333
42 external genital hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003241
43 femoral hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100541
44 gingival cleft 58 31 occasional (7.5%) Occasional (29-5%) HP:0030690
45 ataxia 31 occasional (7.5%) HP:0001251
46 microphthalmia 31 occasional (7.5%) HP:0000568
47 respiratory failure 31 occasional (7.5%) HP:0002878
48 cleft palate 58 31 very rare (1%) Occasional (29-5%) HP:0000175
49 macrocephaly 31 very rare (1%) HP:0000256
50 thickened calvaria 31 very rare (1%) HP:0002684

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
strabismus
blepharophimosis
deep-set eyes
hyperopia
more
Head And Neck Head:
microcephaly
incomplete jaw opening

Chest Ribs Sternum Clavicles And Scapulae:
broad ribs

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Vascular:
hypertension
patent ductus arteriosus

Skeletal Feet:
brachydactyly
overlapping toes
toe syndactyly, 2-3

Head And Neck Face:
short philtrum
maxillary hypoplasia
midface hypoplasia
prognathism

Muscle Soft Tissue:
generalized muscle hypertrophy

Skeletal Limbs:
cone-shaped epiphyses
short long bones

Skin Nails Hair Hair:
sparse, fine hair
bushy eyebrows

Skeletal Pelvis:
hypoplastic iliac wings

Growth Other:
prenatal growth deficiency

Respiratory Larynx:
laryngotracheal stenosis, recurrent

Genitourinary Internal Genitalia Female:
menstrual abnormality

Neurologic Behavioral Psychiatric Manifestations:
autism or autistic-like condition

Head And Neck Neck:
short neck

Growth Height:
short stature

Skin Nails Hair Skin:
thickened skin
stiff skin

Head And Neck Ears:
low-set ears
small ears
anomalous middle ear bones
deafness, early-onset mixed conductive and sensorineural

Skeletal Hands:
brachydactyly
camptodactyly
clinodactyly
dupuytren contractures (1 patient)

Skeletal Spine:
platyspondyly
large, flattened vertebrae with large pedicles
vertebral fusions

Cardiovascular Heart:
pericardial effusion
congenital heart defect
septal defects
aortic stenosis
aortic coarctation
more
Head And Neck Mouth:
thin upper lip
small mouth
cleft lip/palate (less common)

Neurologic Central Nervous System:
mental retardation
seizures (rare)
cerebellar ataxia (1 patient)
cerebellar atrophy, progressive (1 patient)

Skeletal Skull:
thickened calvarium

Growth Weight:
obesity (in some)

Head And Neck Nose:
prominent nasal root
broad mid-nose
narrow alar root

Respiratory Lung:
respiratory failure (in some patients)

Skeletal:
decreased joint mobility

Voice:
abnormal voice

Clinical features from OMIM:

139210

UMLS symptoms related to Myhre Syndrome:


thick skin

Drugs & Therapeutics for Myhre Syndrome

Search Clinical Trials , NIH Clinical Center for Myhre Syndrome

Genetic Tests for Myhre Syndrome

Genetic tests related to Myhre Syndrome:

# Genetic test Affiliating Genes
1 Myhre Syndrome 29 SMAD4

Anatomical Context for Myhre Syndrome

MalaCards organs/tissues related to Myhre Syndrome:

40
Heart, Bone, Skin, Eye, Small Intestine, Lung, Uterus

Publications for Myhre Syndrome

Articles related to Myhre Syndrome:

(show top 50) (show all 60)
# Title Authors PMID Year
1
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. 61 24 6 56
22243968 2012
2
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. 61 24 6 56
22158539 2011
3
Mutations of SMAD4 account for both LAPS and Myhre syndromes. 24 56 6
22585601 2012
4
Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome. 61 24 56
27302097 2016
5
Natural history and life-threatening complications in Myhre syndrome and review of the literature. 61 24 56
27562837 2016
6
Myhre syndrome: Clinical features and restrictive cardiopulmonary complications. 61 56 24
26420300 2015
7
Confirmation of existence of a new syndrome: LAPS syndrome. 6 56
11977156 2002
8
A new growth deficiency syndrome. 56 24
7296942 1981
9
Myhre Syndrome 61 6
28406602 2017
10
Myhre syndrome with ataxia and cerebellar atrophy. 56 61
21490502 2011
11
The fifth female patient with Myhre syndrome: further delineation. 56 61
18388781 2008
12
Myhre syndrome in a female with previously undescribed symptoms: further delineation of the phenotype. 56 61
16278892 2005
13
Second female case of Myhre syndrome. 56 61
15057124 2004
14
Myhre syndrome: new reports, review, and differential diagnosis. 56 61
12843331 2003
15
Myhre syndrome: first female case. 61 56
12868475 2003
16
Case of Myhre syndrome with autism and peculiar skin histological findings. 61 56
11568925 2001
17
A new case of Myhre syndrome. 61 56
11310994 2001
18
The Myhre syndrome: report of two cases. 56 61
8261650 1993
19
Severe constipation in a patient with Myhre syndrome: a case report. 24 61
26636501 2016
20
Myhre syndrome with facial paralysis and branch pulmonary stenosis. 24 61
25486016 2015
21
Myhre and LAPS syndromes: clinical and molecular review of 32 patients. 24 61
24424121 2014
22
Myhre syndrome: a rare craniofacial disorder. 24 61
25252769 2014
23
Bilateral otospongiosis and a unilateral vestibular schwannoma in a patient with Myhre syndrome. 24 61
24841914 2014
24
Novel SMAD4 mutation causing Myhre syndrome. 61 24
24715504 2014
25
Myhre syndrome. 61 24
24580733 2014
26
Recurrent pericarditis in Myhre syndrome. 24 61
23610053 2013
27
Retinal involvement in two unrelated patients with Myhre syndrome. 61 24
22683461 2012
28
First case of a Japanese girl with Myhre syndrome due to a heterozygous SMAD4 mutation. 24 61
22711472 2012
29
Clinical features and respiratory complications in Myhre syndrome. 24 61
21816239 2011
30
Myhre's syndrome in a girl with normal intelligence. 56
15723310 2005
31
Progressive laryngotracheal stenosis with short stature and arthropathy. 56
9843046 1998
32
Myhre-GOMBO syndrome: possible lumping of two "old" new syndromes. 56
8585577 1995
33
A new syndrome of short stature, joint limitation and muscle hypertrophy. 56
6684009 1983
34
FAMILIAL DWARFISM AND "STIFF JOINTS". 56
14272366 1965
35
Myhre-LAPs syndrome and intubation related airway stenosis: keys to diagnosis and critical therapeutic interventions. 24
25940662 2015
36
SMAD4 loss triggers the phenotypic changes of pancreatic ductal adenocarcinoma cells. 24
24625091 2014
37
Mechanisms of TGF-beta signaling from cell membrane to the nucleus. 24
12809600 2003
38
Life-Threatening Multilevel Airway Stenosis Due to Myhre Syndrome. 61
31539271 2020
39
Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome. 61
31837202 2020
40
Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome. 61
32021609 2020
41
Myhre Syndrome Associated With Dunbar Syndrome and Urinary Tract Abnormalities: A Case Report. 61
32175297 2020
42
The first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: Functional consequences and clinical diversity. 61
31654632 2020
43
Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum. 61
31595668 2019
44
Myhre syndrome: a report of six Chinese patients and literature review. 61
30921096 2019
45
Autism Spectrum Disorder and Psychiatric Comorbidity in a Patient with Myhre Syndrome. 61
30968316 2019
46
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot. 61
29230941 2018
47
Myhre syndrome with novel findings: bilateral congenital cortical cataract, bilateral papilledema, accessory nipple, and adenoid hypertrophy. 61
28562390 2018
48
Myhre syndrome: Age-dependent progressive phenotype. 61
29359479 2017
49
Smad4 regulates growth plate matrix production and chondrocyte polarity. 61
28167493 2017
50
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. 61
27068007 2016

Variations for Myhre Syndrome

ClinVar genetic disease variations for Myhre Syndrome:

6 (show top 50) (show all 223) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMAD4 NM_005359.6(SMAD4):c.1308+2T>CSNV Pathogenic 548563 rs1555686624 18:48593559-48593559 18:51067189-51067189
2 SMAD4 NM_005359.6(SMAD4):c.1082G>A (p.Arg361His)SNV Pathogenic 24832 rs377767347 18:48591919-48591919 18:51065549-51065549
3 SMAD4 NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr)SNV Pathogenic 30149 rs281875321 18:48604677-48604677 18:51078307-51078307
4 SMAD4 NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)SNV Pathogenic 30150 rs281875322 18:48604676-48604676 18:51078306-51078306
5 SMAD4 NM_005359.6(SMAD4):c.1500A>G (p.Ile500Met)SNV Pathogenic 30151 rs281875320 18:48604678-48604678 18:51078308-51078308
6 SMAD4 NM_005359.5(SMAD4):c.1245_1248delCAGA (p.Asp415Glufs)deletion Pathogenic 142253 rs80338965 18:48593491-48593494 18:51067121-51067124
7 SMAD4 NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)SNV Pathogenic/Likely pathogenic 88673 rs397518413 18:48604664-48604664 18:51078294-51078294
8 SMAD4 NM_005359.6(SMAD4):c.424+5G>ASNV Conflicting interpretations of pathogenicity 127950 rs200772603 18:48575235-48575235 18:51048865-51048865
9 SMAD4 NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)SNV Conflicting interpretations of pathogenicity 41788 rs149755320 18:48604751-48604751 18:51078381-51078381
10 SMAD4 NM_005359.6(SMAD4):c.677C>T (p.Ala226Val)SNV Conflicting interpretations of pathogenicity 182869 rs539739051 18:48584504-48584504 18:51058134-51058134
11 SMAD4 NM_005359.6(SMAD4):c.20C>T (p.Thr7Met)SNV Conflicting interpretations of pathogenicity 183733 rs372316981 18:48573436-48573436 18:51047066-51047066
12 SMAD4 NM_005359.6(SMAD4):c.21G>A (p.Thr7=)SNV Conflicting interpretations of pathogenicity 183887 rs142292491 18:48573437-48573437 18:51047067-51047067
13 SMAD4 NM_005359.6(SMAD4):c.298A>C (p.Arg100=)SNV Conflicting interpretations of pathogenicity 484792 rs751154230 18:48575104-48575104 18:51048734-51048734
14 SMAD4 NM_005359.6(SMAD4):c.789C>T (p.Asn263=)SNV Conflicting interpretations of pathogenicity 484804 rs763510526 18:48584711-48584711 18:51058341-51058341
15 SMAD4 NM_005359.6(SMAD4):c.1653A>G (p.Leu551=)SNV Conflicting interpretations of pathogenicity 136074 rs199526820 18:48604831-48604831 18:51078461-51078461
16 SMAD4 NM_005359.6(SMAD4):c.1632G>A (p.Pro544=)SNV Conflicting interpretations of pathogenicity 413437 rs549489716 18:48604810-48604810 18:51078440-51078440
17 SMAD4 NM_005359.6(SMAD4):c.1545A>G (p.Arg515=)SNV Conflicting interpretations of pathogenicity 460541 rs760840557 18:48604723-48604723 18:51078353-51078353
18 SMAD4 NM_005359.6(SMAD4):c.342T>C (p.Tyr114=)SNV Conflicting interpretations of pathogenicity 240149 rs757211048 18:48575148-48575148 18:51048778-51048778
19 SMAD4 NM_005359.6(SMAD4):c.1644A>G (p.Pro548=)SNV Conflicting interpretations of pathogenicity 240146 rs756795016 18:48604822-48604822 18:51078452-51078452
20 SMAD4 NM_005359.6(SMAD4):c.667+3G>ASNV Conflicting interpretations of pathogenicity 327111 rs757971589 18:48581366-48581366 18:51054996-51054996
21 SMAD4 NM_005359.6(SMAD4):c.-128+12A>GSNV Conflicting interpretations of pathogenicity 327107 rs886053891 18:48557005-48557005 18:51030635-51030635
22 SMAD4 NM_005359.6(SMAD4):c.249+10A>CSNV Conflicting interpretations of pathogenicity 327110 rs752243771 18:48573675-48573675 18:51047305-51047305
23 SMAD4 NM_005359.6(SMAD4):c.*30A>CSNV Conflicting interpretations of pathogenicity 327112 rs767288576 18:48604867-48604867 18:51078497-51078497
24 SMAD4 NM_005359.6(SMAD4):c.876G>A (p.Pro292=)SNV Conflicting interpretations of pathogenicity 378973 rs753358186 18:48584798-48584798 18:51058428-51058428
25 SMAD4 NM_005359.6(SMAD4):c.1492T>C (p.Leu498=)SNV Conflicting interpretations of pathogenicity 379190 rs1057520520 18:48604670-48604670 18:51078300-51078300
26 SMAD4 NM_005359.6(SMAD4):c.*2707_*2711deldeletion Uncertain significance 327146 rs769541605 18:48607542-48607546 18:51081172-51081176
27 SMAD4 NM_005359.6(SMAD4):c.*81T>GSNV Uncertain significance 327113 rs886053894 18:48604918-48604918 18:51078548-51078548
28 SMAD4 NM_005359.6(SMAD4):c.*1067G>ASNV Uncertain significance 327122 rs542839921 18:48605904-48605904 18:51079534-51079534
29 SMAD4 NM_005359.6(SMAD4):c.*6057G>TSNV Uncertain significance 327213 rs886053935 18:48610894-48610894 18:51084524-51084524
30 SMAD4 NM_005359.5(SMAD4):c.*6162_*6165delGATTshort repeat Uncertain significance 327214 rs886053936 18:48610995-48610998 18:51084625-51084628
31 SMAD4 NM_005359.5(SMAD4):c.-503_-501delACAshort repeat Uncertain significance 327101 rs886053885 18:48556613-48556615 18:51030243-51030245
32 SMAD4 NM_005359.6(SMAD4):c.-495C>GSNV Uncertain significance 327102 rs886053886 18:48556626-48556626 18:51030256-51030256
33 SMAD4 NM_005359.6(SMAD4):c.-333C>ASNV Uncertain significance 327104 rs886053888 18:48556788-48556788 18:51030418-51030418
34 SMAD4 NM_005359.6(SMAD4):c.736C>A (p.Pro246Thr)SNV Uncertain significance 232751 rs876659967 18:48584563-48584563 18:51058193-51058193
35 SMAD4 NM_005359.6(SMAD4):c.*5096C>ASNV Uncertain significance 327174 rs761008429 18:48609933-48609933 18:51083563-51083563
36 SMAD4 NM_005359.6(SMAD4):c.*5530T>CSNV Uncertain significance 327180 rs886053921 18:48610367-48610367 18:51083997-51083997
37 SMAD4 NM_005359.5(SMAD4):c.*5543_*5546dupGCGCshort repeat Uncertain significance 327186 rs68159021 18:48610372-48610373 18:51084002-51084003
38 SMAD4 NM_005359.6(SMAD4):c.*5545G>ASNV Uncertain significance 327189 rs752846586 18:48610382-48610382 18:51084012-51084012
39 SMAD4 NM_005359.6(SMAD4):c.*5874C>TSNV Uncertain significance 327209 rs886053933 18:48610711-48610711 18:51084341-51084341
40 SMAD4 NM_005359.6(SMAD4):c.*1187A>GSNV Uncertain significance 327126 rs181664459 18:48606024-48606024 18:51079654-51079654
41 SMAD4 NM_005359.6(SMAD4):c.*1277G>TSNV Uncertain significance 327127 rs886053900 18:48606114-48606114 18:51079744-51079744
42 SMAD4 NM_005359.6(SMAD4):c.*2962C>TSNV Uncertain significance 327150 rs543699844 18:48607799-48607799 18:51081429-51081429
43 SMAD4 NM_005359.6(SMAD4):c.*3186T>CSNV Uncertain significance 327154 rs886053911 18:48608023-48608023 18:51081653-51081653
44 SMAD4 NM_005359.6(SMAD4):c.*4987T>CSNV Uncertain significance 327170 rs188228460 18:48609824-48609824 18:51083454-51083454
45 SMAD4 NM_005359.6(SMAD4):c.*5235C>GSNV Uncertain significance 327177 rs755051361 18:48610072-48610072 18:51083702-51083702
46 SMAD4 NM_005359.6(SMAD4):c.*5535_*5540deldeletion Uncertain significance 327181 rs147193925 18:48610368-48610373 18:51083998-51084003
47 SMAD4 NM_005359.6(SMAD4):c.*5535_*5547delinsGCGindel Uncertain significance 327183 rs886053924 18:48610372-48610384 18:51084002-51084014
48 SMAD4 NM_005359.6(SMAD4):c.*5551A>GSNV Uncertain significance 327199 rs202140561 18:48610388-48610388 18:51084018-51084018
49 SMAD4 NM_005359.5(SMAD4):c.*5564_*5577dupCACACACACACACAshort repeat Uncertain significance 327192 rs56017493 18:48610382-48610383 18:51084012-51084013
50 SMAD4 NM_005359.5(SMAD4):c.*5570_*5577dupCACACACAshort repeat Uncertain significance 327191 rs56017493 18:48610382-48610383 18:51084012-51084013

UniProtKB/Swiss-Prot genetic disease variations for Myhre Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 SMAD4 p.Ile500Met VAR_067602 rs281875320
2 SMAD4 p.Ile500Thr VAR_067603 rs281875321
3 SMAD4 p.Ile500Val VAR_067604 rs281875322

Expression for Myhre Syndrome

Search GEO for disease gene expression data for Myhre Syndrome.

Pathways for Myhre Syndrome

Pathways related to Myhre Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Cell cycle hsa04110
2 Wnt signaling pathway hsa04310
3 TGF-beta signaling pathway hsa04350

GO Terms for Myhre Syndrome

Sources for Myhre 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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