MCID: MYH012
MIFTS: 41

Myhre Syndrome

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

Aliases & Classifications for Myhre Syndrome

MalaCards integrated aliases for Myhre Syndrome:

Name: Myhre Syndrome 53 72 23 49 24 55 71 28 13
Laryngotracheal Stenosis, Arthropathy, Prognathism, and Short Stature 53 49 24
Laps Syndrome 53 49 24
Growth-Mental Deficiency Syndrome of Myhre 53 71
Growth Mental Deficiency Syndrome of Myhre 49 69
Myhrs 53 71
Laryngotracheal Stenosis, Arthropathy, Prognathism, and Short Stature; Laps Syndrome 53
Facial Dysmorphism-Intellectual Disability-Short Stature-Hearing Loss Syndrome 55
Facial Dysmorphism - Intellectual Deficit - Short Stature - Hearing Loss 49
Laryngotracheal Stenosis, Arthropathy, Prognathism,short Stature 23
Myhre-Laps Syndrome 23
Laps 23

Characteristics:

Orphanet epidemiological data:

55
myhre syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

53
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:

23
Penetrance Penetrance appears to be complete; however, no familial cases of myhre syndrome have been reported...

Classifications:



Summaries for Myhre Syndrome

NIH Rare Diseases : 49 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. Last updated: 5/9/2017

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 joint stiffness, abnormality of epiphysis morphology and ptosis. An important gene associated with Myhre Syndrome is SMAD4 (SMAD Family Member 4). Affiliated tissues include heart, skin and lung.

OMIM : 53 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 : 71 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.

Genetics Home Reference : 24 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.

Wikipedia : 72 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 all 48)
# Related Disease Score Top Affiliating Genes
1 van allen myhre syndrome 12.0
2 ruvalcaba churesigaew myhre syndrome 12.0
3 chromosome 8q22.1 duplication syndrome 11.0
4 laryngeal adductor paralysis 10.9
5 bannayan-riley-ruvalcaba syndrome 10.9
6 tetralogy of fallot 9.8
7 autism 9.8
8 geleophysic dysplasia 1 9.8
9 ataxia and polyneuropathy, adult-onset 9.8
10 aging 9.8
11 geleophysic dysplasia 2 9.8
12 cataract 9.8
13 adenoiditis 9.8
14 adenoid hypertrophy 9.8
15 facial paralysis 9.8
16 papilledema 9.8
17 pericarditis 9.8
18 constipation 9.8
19 retinitis 9.8
20 geleophysic dysplasia 9.8
21 camurati-engelmann disease 9.7
22 systemic lupus erythematosus 9.7
23 thrombophilia due to thrombin defect 9.7
24 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 9.7
25 insulin-like growth factor i 9.7
26 wilson disease 9.7
27 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.7
28 chops syndrome 9.7
29 leukemia 9.7
30 spinal stenosis 9.7
31 thrombocytopenia 9.7
32 ulcerative colitis 9.7
33 colitis 9.7
34 inguinal hernia 9.7
35 thrombosis 9.7
36 quadriplegia 9.7
37 beriberi 9.7
38 aggressive periodontitis 9.7
39 lymphangioma 9.7
40 intestinal perforation 9.7
41 cervicitis 9.7
42 breast disease 9.7
43 infertility 9.7
44 periodontitis 9.7
45 lupus erythematosus 9.7
46 allergic encephalomyelitis 9.7
47 fetal and neonatal alloimmune thrombocytopenia 9.7
48 encephalopathy 9.7

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:

53
HeadAndNeckEyes:
hypertelorism
strabismus
blepharophimosis
deep-set eyes
hyperopia
more
HeadAndNeckNeck:
short neck

CardiovascularVascular:
hypertension
patent ductus arteriosus

GrowthHeight:
short stature

SkeletalSpine:
platyspondyly
large, flattened vertebrae with large pedicles
vertebral fusions

HeadAndNeckFace:
short philtrum
maxillary hypoplasia
midface hypoplasia
prognathism

SkinNailsHairSkin:
thickened skin
stiff skin

MuscleSoftTissue:
generalized muscle hypertrophy

HeadAndNeckMouth:
small mouth
thin upper lip
cleft lip/palate (less common)

SkinNailsHairHair:
sparse, fine hair
bushy eyebrows

SkeletalPelvis:
hypoplastic iliac wings

GrowthOther:
prenatal growth deficiency

RespiratoryLarynx:
laryngotracheal stenosis, recurrent

GenitourinaryInternalGenitaliaFemale:
menstrual abnormality

NeurologicBehavioralPsychiatricManifestations:
autism or autistic-like condition

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

SkeletalHands:
clinodactyly
brachydactyly
camptodactyly
dupuytren contractures (1 patient)

HeadAndNeckHead:
microcephaly
incomplete jaw opening

ChestRibsSternumClaviclesAndScapulae:
broad ribs

GenitourinaryInternalGenitaliaMale:
cryptorchidism

SkeletalFeet:
brachydactyly
overlapping toes
toe syndactyly, 2-3

CardiovascularHeart:
pericardial effusion
congenital heart defect
septal defects
aortic stenosis
aortic coarctation
more
SkeletalLimbs:
cone-shaped epiphyses
short long bones

NeurologicCentralNervousSystem:
mental retardation
seizures (rare)
cerebellar ataxia (1 patient)
cerebellar atrophy, progressive (1 patient)

SkeletalSkull:
thickened calvarium

GrowthWeight:
obesity (in some)

HeadAndNeckNose:
prominent nasal root
broad mid-nose
narrow alar root

RespiratoryLung:
respiratory failure (in some patients)

Skeletal:
decreased joint mobility

Voice:
abnormal voice


Clinical features from OMIM:

139210

Human phenotypes related to Myhre Syndrome:

55 31 (show top 50) (show all 96)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001387
2 abnormality of epiphysis morphology 55 31 frequent (33%) Frequent (79-30%) HP:0005930
3 ptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000508
4 hypertension 55 31 frequent (33%) Frequent (79-30%) HP:0000822
5 precocious puberty 55 31 occasional (7.5%) Occasional (29-5%) HP:0000826
6 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
7 inguinal hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000023
8 mandibular prognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000303
9 hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000365
10 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
11 behavioral abnormality 55 31 occasional (7.5%) Occasional (29-5%) HP:0000708
12 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
13 craniofacial hyperostosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0004493
14 emg abnormality 55 31 frequent (33%) Frequent (79-30%) HP:0003457
15 abnormality of the metaphysis 55 31 frequent (33%) Frequent (79-30%) HP:0000944
16 platyspondyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000926
17 short palm 55 31 hallmark (90%) Very frequent (99-80%) HP:0004279
18 large iliac wings 55 31 hallmark (90%) Very frequent (99-80%) HP:0008818
19 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
20 intrauterine growth retardation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001511
21 specific learning disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001328
22 hypogonadism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000135
23 hypospadias 55 31 occasional (7.5%) Occasional (29-5%) HP:0000047
24 hypoplasia of the maxilla 55 31 hallmark (90%) Very frequent (99-80%) HP:0000327
25 narrow mouth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000160
26 brachydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001156
27 abnormality of the ribs 55 31 hallmark (90%) Very frequent (99-80%) HP:0000772
28 thickened skin 55 31 frequent (33%) Frequent (79-30%) HP:0001072
29 severe short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0003510
30 blepharophimosis 55 31 frequent (33%) Frequent (79-30%) HP:0000581
31 midface retrusion 55 31 hallmark (90%) Very frequent (99-80%) HP:0011800
32 thin vermilion border 55 31 hallmark (90%) Very frequent (99-80%) HP:0000233
33 skeletal muscle hypertrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0003712
34 epispadias 55 31 occasional (7.5%) Occasional (29-5%) HP:0000039
35 bifid uvula 55 31 occasional (7.5%) Occasional (29-5%) HP:0000193
36 submucous cleft hard palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000176
37 short palpebral fissure 55 31 frequent (33%) Frequent (79-30%) HP:0012745
38 abnormality of the pubic bone 55 31 hallmark (90%) Very frequent (99-80%) HP:0003172
39 external genital hypoplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0003241
40 gingival cleft 55 31 occasional (7.5%) Occasional (29-5%) HP:0030690
41 unilateral cleft lip 55 31 occasional (7.5%) Occasional (29-5%) HP:0100333
42 femoral hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0100541
43 ataxia 31 occasional (7.5%) HP:0001251
44 seizures 31 HP:0001250
45 malar flattening 31 HP:0000272
46 hypertelorism 31 HP:0000316
47 low-set ears 31 HP:0000369
48 short neck 31 HP:0000470
49 obesity 31 occasional (7.5%) HP:0001513
50 clinodactyly 31 HP:0030084

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 28 SMAD4

Anatomical Context for Myhre Syndrome

MalaCards organs/tissues related to Myhre Syndrome:

38
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
Natural history and life-threatening complications in Myhre syndrome and review of the literature. ( 27562837 )
2016
5
Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome. ( 27302097 )
2016
6
Severe constipation in a patient with Myhre syndrome: a case report. ( 26636501 )
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
SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan. ( 24398790 )
2014
10
Myhre syndrome: a rare craniofacial disorder. ( 25252769 )
2014
11
Novel SMAD4 mutation causing Myhre syndrome. ( 24715504 )
2014
12
Bilateral otospongiosis and a unilateral vestibular schwannoma in a patient with Myhre syndrome. ( 24841914 )
2014
13
Myhre syndrome. ( 24580733 )
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
Genetic basis of Myhre syndrome. ( 23951433 )
2012
17
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. ( 22158539 )
2012
18
Retinal involvement in two unrelated patients with Myhre syndrome. ( 22683461 )
2012
19
Mutations of SMAD4 account for both LAPS and Myhre syndromes. ( 22585601 )
2012
20
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. ( 22243968 )
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
A new case of Myhre syndrome. ( 11310994 )
2001
31
Case of Myhre syndrome with autism and peculiar skin histological findings. ( 11568925 )
2001
32
Geleophysic dysplasia vs. Myhre syndrome. ( 8923952 )
1996
33
The Myhre syndrome: report of two cases. ( 8261650 )
1993
34
Myhre Syndrome ( 28406602 )
1993

Variations for Myhre Syndrome

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

71
# 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
# 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.1498A> G (p.Ile500Val) single nucleotide variant Pathogenic rs281875322 GRCh37 Chromosome 18, 48604676: 48604676
3 SMAD4 NM_005359.5(SMAD4): c.1500A> G (p.Ile500Met) single nucleotide variant Pathogenic rs281875320 GRCh37 Chromosome 18, 48604678: 48604678
4 SMAD4 NM_005359.5(SMAD4): c.1486C> T (p.Arg496Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397518413 GRCh37 Chromosome 18, 48604664: 48604664

Expression for Myhre Syndrome

Search GEO for disease gene expression data for Myhre Syndrome.

Pathways for Myhre Syndrome

GO Terms for Myhre Syndrome

Sources for Myhre Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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