MCID: MYH012
MIFTS: 41

Myhre Syndrome

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

Aliases & Classifications for Myhre Syndrome

MalaCards integrated aliases for Myhre Syndrome:

Name: Myhre Syndrome 57 76 24 53 25 59 75 37 29 13 6 40
Laryngotracheal Stenosis, Arthropathy, Prognathism, and Short Stature 57 53 25
Laps Syndrome 57 53 25
Growth-Mental Deficiency Syndrome of Myhre 57 75
Growth Mental Deficiency Syndrome of Myhre 53 73
Myhrs 57 75
Laryngotracheal Stenosis, Arthropathy, Prognathism, and Short Stature; Laps Syndrome 57
Facial Dysmorphism-Intellectual Disability-Short Stature-Hearing Loss Syndrome 59
Facial Dysmorphism - Intellectual Deficit - Short Stature - Hearing Loss 53
Laryngotracheal Stenosis, Arthropathy, Prognathism,short Stature 24
Myhre-Laps Syndrome 24
Laps 24

Characteristics:

Orphanet epidemiological data:

59
myhre syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
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:



Summaries for Myhre Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Myhre Syndrome, also known as laryngotracheal stenosis, arthropathy, prognathism, and short stature, is related to van allen myhre syndrome and ruvalcaba churesigaew myhre 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, skin and lung, and related phenotypes are abnormality of epiphysis morphology and ptosis

Genetics Home Reference : 25 Myhre syndrome is a condition involving short stature, characteristic facial features, hearing loss, limited joint mobility, a buildup of scar tissue (fibrosis) in the skin and internal organs, and other problems affecting multiple body systems. Affected individuals often have problems with the heart and blood vessels (cardiovascular system), the lungs and airways (respiratory system), and the skeletal system. The cardiovascular and respiratory problems gradually get worse and can lead to potentially life-threatening complications. Cancer also occasionally occurs in Myhre syndrome.

OMIM : 57 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)

UniProtKB/Swiss-Prot : 75 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 : 76 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

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



Diseases related to Myhre Syndrome

Symptoms & Phenotypes for Myhre Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
strabismus
blepharophimosis
deep-set eyes
hyperopia
more
Head And Neck Neck:
short neck

Cardiovascular Vascular:
hypertension
patent ductus arteriosus

Growth Height:
short stature

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

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

Skin Nails Hair Skin:
thickened skin
stiff skin

Muscle Soft Tissue:
generalized muscle hypertrophy

Head And Neck Mouth:
small mouth
thin upper lip
cleft lip/palate (less common)

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

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

Head And Neck Head:
microcephaly
incomplete jaw opening

Chest Ribs Sternum Clavicles And Scapulae:
broad ribs

GenitourinaryInternal GenitaliaMale:
cryptorchidism

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

Cardiovascular Heart:
pericardial effusion
congenital heart defect
septal defects
aortic stenosis
aortic coarctation
more
Skeletal Limbs:
cone-shaped epiphyses
short long bones

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

Human phenotypes related to Myhre Syndrome:

59 32 (show top 50) (show all 96)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 59 32 frequent (33%) Frequent (79-30%) HP:0005930
2 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
3 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
4 precocious puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000826
5 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
6 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
7 mandibular prognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000303
8 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
9 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
10 behavioral abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0000708
11 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
12 craniofacial hyperostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004493
13 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
14 emg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0003457
15 abnormality of the metaphysis 59 32 frequent (33%) Frequent (79-30%) HP:0000944
16 platyspondyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000926
17 short palm 59 32 hallmark (90%) Very frequent (99-80%) HP:0004279
18 large iliac wings 59 32 hallmark (90%) Very frequent (99-80%) HP:0008818
19 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
20 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
21 specific learning disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001328
22 hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000135
23 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
24 hypoplasia of the maxilla 59 32 hallmark (90%) Very frequent (99-80%) HP:0000327
25 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
26 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
27 abnormality of the ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000772
28 thickened skin 59 32 frequent (33%) Frequent (79-30%) HP:0001072
29 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
30 blepharophimosis 59 32 frequent (33%) Frequent (79-30%) HP:0000581
31 midface retrusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0011800
32 thin vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0000233
33 skeletal muscle hypertrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003712
34 epispadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000039
35 bifid uvula 59 32 occasional (7.5%) Occasional (29-5%) HP:0000193
36 submucous cleft hard palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000176
37 short palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0012745
38 abnormality of the pubic bone 59 32 hallmark (90%) Very frequent (99-80%) HP:0003172
39 external genital hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003241
40 gingival cleft 59 32 occasional (7.5%) Occasional (29-5%) HP:0030690
41 unilateral cleft lip 59 32 occasional (7.5%) Occasional (29-5%) HP:0100333
42 femoral hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100541
43 malar flattening 32 HP:0000272
44 hypertelorism 32 HP:0000316
45 low-set ears 32 HP:0000369
46 short neck 32 HP:0000470
47 obesity 32 occasional (7.5%) HP:0001513
48 clinodactyly 32 HP:0030084
49 seizures 32 HP:0001250
50 ataxia 32 occasional (7.5%) HP:0001251

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:

41
Heart, Skin, Lung, Bone, Eye, Skeletal Muscle

Publications for Myhre Syndrome

Articles related to Myhre Syndrome:

(show all 34)
# Title Authors Year
1
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot. ( 29230941 )
2018
2
Myhre syndrome with novel findings: bilateral congenital cortical cataract, bilateral papilledema, accessory nipple, and adenoid hypertrophy. ( 28562390 )
2017
3
Myhre syndrome: Age-dependent progressive phenotype. ( 29359479 )
2017
4
Severe constipation in a patient with Myhre syndrome: a case report. ( 26636501 )
2016
5
Natural history and life-threatening complications in Myhre syndrome and review of the literature. ( 27562837 )
2016
6
Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome. ( 27302097 )
2016
7
Myhre syndrome with facial paralysis and branch pulmonary stenosis. ( 25486016 )
2015
8
Myhre syndrome: Clinical features and restrictive cardiopulmonary complications. ( 26420300 )
2015
9
Myhre syndrome. ( 24580733 )
2014
10
Myhre syndrome: a rare craniofacial disorder. ( 25252769 )
2014
11
Bilateral otospongiosis and a unilateral vestibular schwannoma in a patient with Myhre syndrome. ( 24841914 )
2014
12
Novel SMAD4 mutation causing Myhre syndrome. ( 24715504 )
2014
13
SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan. ( 24398790 )
2014
14
Recurrent pericarditis in Myhre syndrome. ( 23610053 )
2013
15
First case of a Japanese girl with Myhre syndrome due to a heterozygous SMAD4 mutation. ( 22711472 )
2012
16
Mutations of SMAD4 account for both LAPS and Myhre syndromes. ( 22585601 )
2012
17
Genetic basis of Myhre syndrome. ( 23951433 )
2012
18
Retinal involvement in two unrelated patients with Myhre syndrome. ( 22683461 )
2012
19
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. ( 22243968 )
2012
20
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. ( 22158539 )
2012
21
Myhre syndrome with ataxia and cerebellar atrophy. ( 21490502 )
2011
22
Clinical features and respiratory complications in Myhre syndrome. ( 21816239 )
2011
23
LAPS syndrome and Myhre syndrome: two disorders or one? ( 19267408 )
2009
24
The fifth female patient with Myhre syndrome: further delineation. ( 18388781 )
2008
25
Myhre syndrome in a female with previously undescribed symptoms: further delineation of the phenotype. ( 16278892 )
2005
26
Second female case of Myhre syndrome. ( 15057124 )
2004
27
Myhre syndrome: new reports, review, and differential diagnosis. ( 12843331 )
2003
28
Myhre syndrome: first female case. ( 12868475 )
2003
29
Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution. ( 12116212 )
2002
30
Case of Myhre syndrome with autism and peculiar skin histological findings. ( 11568925 )
2001
31
A new case of Myhre syndrome. ( 11310994 )
2001
32
Geleophysic dysplasia vs. Myhre syndrome. ( 8923952 )
1996
33
Myhre Syndrome ( 28406602 )
1993
34
The Myhre syndrome: report of two cases. ( 8261650 )
1993

Variations for Myhre Syndrome

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

75
# 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

ClinVar genetic disease variations for Myhre Syndrome:

6
(show top 50) (show all 256)
# Gene Variation Type Significance SNP ID Assembly Location
1 SMAD4 NM_005359.5(SMAD4): c.1499T> C (p.Ile500Thr) single nucleotide variant Pathogenic rs281875321 GRCh37 Chromosome 18, 48604677: 48604677
2 SMAD4 NM_005359.5(SMAD4): c.1499T> C (p.Ile500Thr) single nucleotide variant Pathogenic rs281875321 GRCh38 Chromosome 18, 51078307: 51078307
3 SMAD4 NM_005359.5(SMAD4): c.1498A> G (p.Ile500Val) single nucleotide variant Pathogenic rs281875322 GRCh37 Chromosome 18, 48604676: 48604676
4 SMAD4 NM_005359.5(SMAD4): c.1498A> G (p.Ile500Val) single nucleotide variant Pathogenic rs281875322 GRCh38 Chromosome 18, 51078306: 51078306
5 SMAD4 NM_005359.5(SMAD4): c.1500A> G (p.Ile500Met) single nucleotide variant Pathogenic rs281875320 GRCh37 Chromosome 18, 48604678: 48604678
6 SMAD4 NM_005359.5(SMAD4): c.1500A> G (p.Ile500Met) single nucleotide variant Pathogenic rs281875320 GRCh38 Chromosome 18, 51078308: 51078308
7 SMAD4 NM_005359.5(SMAD4): c.1486C> T (p.Arg496Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397518413 GRCh37 Chromosome 18, 48604664: 48604664
8 SMAD4 NM_005359.5(SMAD4): c.1486C> T (p.Arg496Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397518413 GRCh38 Chromosome 18, 51078294: 51078294
9 SMAD4 NM_005359.5(SMAD4): c.677C> T (p.Ala226Val) single nucleotide variant Conflicting interpretations of pathogenicity rs539739051 GRCh38 Chromosome 18, 51058134: 51058134
10 SMAD4 NM_005359.5(SMAD4): c.677C> T (p.Ala226Val) single nucleotide variant Conflicting interpretations of pathogenicity rs539739051 GRCh37 Chromosome 18, 48584504: 48584504
11 SMAD4 NM_005359.5(SMAD4): c.1644A> G (p.Pro548=) single nucleotide variant Conflicting interpretations of pathogenicity rs756795016 GRCh37 Chromosome 18, 48604822: 48604822
12 SMAD4 NM_005359.5(SMAD4): c.1644A> G (p.Pro548=) single nucleotide variant Conflicting interpretations of pathogenicity rs756795016 GRCh38 Chromosome 18, 51078452: 51078452
13 SMAD4 NM_005359.5(SMAD4): c.-313C> A single nucleotide variant Uncertain significance rs886053889 GRCh38 Chromosome 18, 51030438: 51030438
14 SMAD4 NM_005359.5(SMAD4): c.-313C> A single nucleotide variant Uncertain significance rs886053889 GRCh37 Chromosome 18, 48556808: 48556808
15 SMAD4 NM_005359.5(SMAD4): c.667+3G> A single nucleotide variant Conflicting interpretations of pathogenicity rs757971589 GRCh37 Chromosome 18, 48581366: 48581366
16 SMAD4 NM_005359.5(SMAD4): c.667+3G> A single nucleotide variant Conflicting interpretations of pathogenicity rs757971589 GRCh38 Chromosome 18, 51054996: 51054996
17 SMAD4 NM_005359.5(SMAD4): c.*218A> G single nucleotide variant Uncertain significance rs886053895 GRCh37 Chromosome 18, 48605055: 48605055
18 SMAD4 NM_005359.5(SMAD4): c.*218A> G single nucleotide variant Uncertain significance rs886053895 GRCh38 Chromosome 18, 51078685: 51078685
19 SMAD4 NM_005359.5(SMAD4): c.*1179T> C single nucleotide variant Likely benign rs10470 GRCh38 Chromosome 18, 51079646: 51079646
20 SMAD4 NM_005359.5(SMAD4): c.*1179T> C single nucleotide variant Likely benign rs10470 GRCh37 Chromosome 18, 48606016: 48606016
21 SMAD4 NM_005359.5(SMAD4): c.*1801A> G single nucleotide variant Uncertain significance rs886053904 GRCh38 Chromosome 18, 51080268: 51080268
22 SMAD4 NM_005359.5(SMAD4): c.*1801A> G single nucleotide variant Uncertain significance rs886053904 GRCh37 Chromosome 18, 48606638: 48606638
23 SMAD4 NM_005359.5(SMAD4): c.*1864C> A single nucleotide variant Likely benign rs561442548 GRCh38 Chromosome 18, 51080331: 51080331
24 SMAD4 NM_005359.5(SMAD4): c.*1864C> A single nucleotide variant Likely benign rs561442548 GRCh37 Chromosome 18, 48606701: 48606701
25 SMAD4 NM_005359.5(SMAD4): c.*1866A> G single nucleotide variant Likely benign rs4940037 GRCh38 Chromosome 18, 51080333: 51080333
26 SMAD4 NM_005359.5(SMAD4): c.*1866A> G single nucleotide variant Likely benign rs4940037 GRCh37 Chromosome 18, 48606703: 48606703
27 SMAD4 NM_005359.5(SMAD4): c.*2488T> A single nucleotide variant Likely benign rs148190627 GRCh38 Chromosome 18, 51080955: 51080955
28 SMAD4 NM_005359.5(SMAD4): c.*2488T> A single nucleotide variant Likely benign rs148190627 GRCh37 Chromosome 18, 48607325: 48607325
29 SMAD4 NM_005359.5(SMAD4): c.*2989A> G single nucleotide variant Likely benign rs139526377 GRCh38 Chromosome 18, 51081456: 51081456
30 SMAD4 NM_005359.5(SMAD4): c.*2989A> G single nucleotide variant Likely benign rs139526377 GRCh37 Chromosome 18, 48607826: 48607826
31 SMAD4 NM_005359.5(SMAD4): c.*3506C> T single nucleotide variant Uncertain significance rs886053913 GRCh37 Chromosome 18, 48608343: 48608343
32 SMAD4 NM_005359.5(SMAD4): c.*3506C> T single nucleotide variant Uncertain significance rs886053913 GRCh38 Chromosome 18, 51081973: 51081973
33 SMAD4 NM_005359.5(SMAD4): c.*3638T> G single nucleotide variant Uncertain significance rs886053914 GRCh37 Chromosome 18, 48608475: 48608475
34 SMAD4 NM_005359.5(SMAD4): c.*3638T> G single nucleotide variant Uncertain significance rs886053914 GRCh38 Chromosome 18, 51082105: 51082105
35 SMAD4 NM_005359.5(SMAD4): c.*4867dupT duplication Likely benign rs886053918 GRCh38 Chromosome 18, 51083334: 51083334
36 SMAD4 NM_005359.5(SMAD4): c.*4867dupT duplication Likely benign rs886053918 GRCh37 Chromosome 18, 48609704: 48609704
37 SMAD4 NM_005359.5(SMAD4): c.*4991dupT duplication Uncertain significance rs886053919 GRCh38 Chromosome 18, 51083458: 51083458
38 SMAD4 NM_005359.5(SMAD4): c.*4991dupT duplication Uncertain significance rs886053919 GRCh37 Chromosome 18, 48609828: 48609828
39 SMAD4 NM_005359.5(SMAD4): c.*5004_*5005dupTT duplication Uncertain significance rs886053920 GRCh38 Chromosome 18, 51083471: 51083472
40 SMAD4 NM_005359.5(SMAD4): c.*5004_*5005dupTT duplication Uncertain significance rs886053920 GRCh37 Chromosome 18, 48609841: 48609842
41 SMAD4 NM_005359.5(SMAD4): c.*5080A> G single nucleotide variant Likely benign rs532965680 GRCh38 Chromosome 18, 51083547: 51083547
42 SMAD4 NM_005359.5(SMAD4): c.*5080A> G single nucleotide variant Likely benign rs532965680 GRCh37 Chromosome 18, 48609917: 48609917
43 SMAD4 NM_005359.5(SMAD4): c.*5535_*5549delACGCGCGCGCGCACAinsG indel Uncertain significance rs886053925 GRCh38 Chromosome 18, 51084002: 51084016
44 SMAD4 NM_005359.5(SMAD4): c.*5535_*5549delACGCGCGCGCGCACAinsG indel Uncertain significance rs886053925 GRCh37 Chromosome 18, 48610372: 48610386
45 SMAD4 NM_005359.5(SMAD4): c.*5546_*5547insGCAC insertion Uncertain significance rs68159021 GRCh38 Chromosome 18, 51084013: 51084014
46 SMAD4 NM_005359.5(SMAD4): c.*5546_*5547insGCAC insertion Uncertain significance rs68159021 GRCh37 Chromosome 18, 48610383: 48610384
47 SMAD4 NM_005359.5(SMAD4): c.*5546_*5547insGCACAC insertion Uncertain significance rs68159021 GRCh38 Chromosome 18, 51084013: 51084014
48 SMAD4 NM_005359.5(SMAD4): c.*5546_*5547insGCACAC insertion Uncertain significance rs68159021 GRCh37 Chromosome 18, 48610383: 48610384
49 SMAD4 NM_005359.5(SMAD4): c.*5546_*5547insGCACACAC insertion Uncertain significance rs68159021 GRCh38 Chromosome 18, 51084013: 51084014
50 SMAD4 NM_005359.5(SMAD4): c.*5546_*5547insGCACACAC insertion Uncertain significance rs68159021 GRCh37 Chromosome 18, 48610383: 48610384

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:

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