MCID: MYH012
MIFTS: 39

Myhre Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Mental diseases categories

Aliases & Classifications for Myhre Syndrome

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 24GTR, 67UniProtKB/Swiss-Prot, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Myhre Syndrome:

Name: Myhre Syndrome 49 11 45 22 23 51 24 67
Laryngotracheal Stenosis, Arthropathy, Prognathism, and Short Stature 45 23
Growth Mental Deficiency Syndrome of Myhre 45 65
Laps Syndrome 45 23
Facial Dysmorphism - Intellectual Disability - Short Stature - Hearing Loss 51
 
Facial Dysmorphism - Intellectual Deficit - Short Stature - Hearing Loss 45
Facial Dysmorphism-Intellectual Deficit-Short Stature-Hearing Loss 23
Growth-Mental Deficiency Syndrome of Myhre 67
Myhrs 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
myhre syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

OMIM49 139210
Orphanet51 2588
ICD10 via Orphanet28 Q87.8
UMLS via Orphanet66 C0796081
MedGen34 C0796081

Summaries for Myhre Syndrome

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UniProtKB/Swiss-Prot:67 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.

MalaCards based summary: Myhre Syndrome, also known as laryngotracheal stenosis, arthropathy, prognathism, and short stature, is related to ruvalcaba churesigaew myhre syndrome and van allen myhre syndrome, and has symptoms including narrow mouth, thin vermilion border and malar flattening. An important gene associated with Myhre Syndrome is SMAD4 (SMAD Family Member 4). Affiliated tissues include heart, bone and skin.

Genetics Home Reference:23 Myhre syndrome is a condition with features affecting many systems and functions of the body.

NIH Rare Diseases:45 Myhre syndrome is a rare inherited disorder characterized by intellectual disability, short stature, unusual facial features, and various bone (skeletal) abnormalities. other findings may include hearing impairment, abnormal enlargement of the muscles (muscle hypertrophy), and/or joint stiffness. myhre syndrome is caused by mutations in the smad4 gene. this condition is inherited in an autosomal dominant pattern. most cases are due to a new mutation. last updated: 3/17/2014

OMIM:49 Myhre syndrome is a rare disorder characterized by mental retardation, dysmorphic facial features, including... (139210) more...

Wikipedia:68 Myhre syndrome is a rare genetic disorder. more...

Related Diseases for Myhre Syndrome

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

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1ruvalcaba churesigaew myhre syndrome10.5
2van allen myhre syndrome10.5
3bannayan-riley-ruvalcaba syndrome10.1
4facial paralysis10.1
5pericarditis10.1
6retinitis10.1
7geleophysic dysplasia10.1
8ataxia10.1
9myopathy10.1
10gombo syndrome10.1
11megalencephaly10.1

Graphical network of diseases related to Myhre Syndrome:



Diseases related to myhre syndrome

Symptoms for Myhre Syndrome

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Symptoms by clinical synopsis from OMIM:

139210

Clinical features from OMIM:

139210

Symptoms:

 51 (show all 35)
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • mid-facial hypoplasia/short/small midface
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • prognathism/prognathia
  • microstomia/little mouth
  • thin/retracted lips
  • short philtrum
  • hearing loss/hypoacusia/deafness
  • anomalies of the ribs
  • platyspondyly
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • short hand/brachydactyly
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • muscle hypertrophy
  • restricted joint mobility/joint stiffness/ankylosis
  • short stature/dwarfism/nanism
  • intrauterine growth retardation
  • hypermetropia
  • ptosis
  • blepharophimosis/short palpebral fissures
  • thick skin/pachydermia/orange skin
  • cardiac septal defect
  • chronic arterial hypertension
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • abnormal emg/electromyogram/electropmyography
  • metaphyseal anomaly
  • epiphyseal anomaly
  • cataract/lens opacification
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • inguinal/inguinoscrotal/crural hernia
  • hypospadias/epispadias/bent penis
  • precocious puberty
  • late puberty/hypogonadism/hypogenitalism
  • psychic/behavioural troubles

HPO human phenotypes related to Myhre Syndrome:

(show all 94)
id Description Frequency HPO Source Accession
1 narrow mouth hallmark (90%) HP:0000160
2 thin vermilion border hallmark (90%) HP:0000233
3 malar flattening hallmark (90%) HP:0000272
4 mandibular prognathia hallmark (90%) HP:0000303
5 short philtrum hallmark (90%) HP:0000322
6 hearing impairment hallmark (90%) HP:0000365
7 abnormality of the ribs hallmark (90%) HP:0000772
8 platyspondyly hallmark (90%) HP:0000926
9 brachydactyly syndrome hallmark (90%) HP:0001156
10 limitation of joint mobility hallmark (90%) HP:0001376
11 intrauterine growth retardation hallmark (90%) HP:0001511
12 abnormality of pelvic girdle bone morphology hallmark (90%) HP:0002644
13 skeletal muscle hypertrophy hallmark (90%) HP:0003712
14 short stature hallmark (90%) HP:0004322
15 craniofacial hyperostosis hallmark (90%) HP:0004493
16 cognitive impairment hallmark (90%) HP:0100543
17 cryptorchidism typical (50%) HP:0000028
18 ptosis typical (50%) HP:0000508
19 hypermetropia typical (50%) HP:0000540
20 blepharophimosis typical (50%) HP:0000581
21 hypertension typical (50%) HP:0000822
22 abnormality of the metaphyses typical (50%) HP:0000944
23 thickened skin typical (50%) HP:0001072
24 abnormality of the cardiac septa typical (50%) HP:0001671
25 emg abnormality typical (50%) HP:0003457
26 cleft palate occasional (7.5%) HP:0000175
27 cataract occasional (7.5%) HP:0000518
28 behavioral abnormality occasional (7.5%) HP:0000708
29 precocious puberty occasional (7.5%) HP:0000826
30 hernia of the abdominal wall occasional (7.5%) HP:0004299
31 non-midline cleft lip occasional (7.5%) HP:0100335
32 displacement of the external urethral meatus occasional (7.5%) HP:0100627
33 oral cleft rare (5%) HP:0000202
34 microphthalmos rare (5%) HP:0000568
35 ataxia rare (5%) HP:0001251
36 obesity rare (5%) HP:0001513
37 respiratory insufficiency rare (5%) HP:0002093
38 respiratory failure rare (5%) HP:0002878
39 autosomal dominant inheritance HP:0000006
40 cryptorchidism HP:0000028
41 narrow mouth HP:0000160
42 thin upper lip vermilion HP:0000219
43 microcephaly HP:0000252
44 malar flattening HP:0000272
45 mandibular prognathia HP:0000303
46 hypertelorism HP:0000316
47 short philtrum HP:0000322
48 hypoplasia of the maxilla HP:0000327
49 hearing impairment HP:0000365
50 low-set ears HP:0000369
51 prominent nasal bridge HP:0000426
52 short neck HP:0000470
53 strabismus HP:0000486
54 deeply set eye HP:0000490
55 hypermetropia HP:0000540
56 thick eyebrow HP:0000574
57 blepharophimosis HP:0000581
58 autism HP:0000717
59 hypertension HP:0000822
60 broad ribs HP:0000885
61 platyspondyly HP:0000926
62 thickened skin HP:0001072
63 brachydactyly syndrome HP:0001156
64 intellectual disability HP:0001249
65 seizures HP:0001250
66 limitation of joint mobility HP:0001376
67 intrauterine growth retardation HP:0001511
68 abnormality of the voice HP:0001608
69 patent ductus arteriosus HP:0001643
70 aortic valve stenosis HP:0001650
71 abnormality of the cardiac septa HP:0001671
72 coarctation of aorta HP:0001680
73 pericardial effusion HP:0001698
74 short toe HP:0001831
75 overlapping toe HP:0001845
76 fine hair HP:0002213
77 thickened calvaria HP:0002684
78 hypoplastic iliac wing HP:0002866
79 vertebral fusion HP:0002948
80 short long bone HP:0003026
81 generalized muscle hypertrophy HP:0003720
82 short stature HP:0004322
83 enlarged vertebral pedicles HP:0004621
84 2-3 toe syndactyly HP:0004691
85 laryngotracheal stenosis HP:0004894
86 sparse hair HP:0008070
87 microtia HP:0008551
88 short finger HP:0009381
89 radial deviation of finger HP:0009466
90 cone-shaped epiphysis HP:0010579
91 hypoplasia of midface HP:0011800
92 camptodactyly HP:0012385
93 stiff skin HP:0030053
94 clinodactyly HP:0030084

Drugs & Therapeutics for Myhre Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Myhre Syndrome

Genetic Tests for Myhre Syndrome

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Genetic tests related to Myhre Syndrome:

id Genetic test Affiliating Genes
1 Myhre Syndrome22 24 SMAD4

Anatomical Context for Myhre Syndrome

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MalaCards organs/tissues related to Myhre Syndrome:

33
Heart, Bone, Skin, Testes, Skeletal muscle, Eye

Animal Models for Myhre Syndrome or affiliated genes

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Publications for Myhre Syndrome

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Articles related to Myhre Syndrome:

(show all 27)
idTitleAuthorsYear
1
Myhre syndrome: Clinical features and restrictive cardiopulmonary complications. (26420300)
2015
2
Myhre syndrome with facial paralysis and branch pulmonary stenosis. (25486016)
2015
3
Novel SMAD4 mutation causing Myhre syndrome. (24715504)
2014
4
SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan. (24398790)
2014
5
Bilateral otospongiosis and a unilateral vestibular schwannoma in a patient with Myhre syndrome. (24841914)
2014
6
Myhre syndrome: a rare craniofacial disorder. (25252769)
2014
7
Myhre syndrome. (24580733)
2014
8
Recurrent pericarditis in Myhre syndrome. (23610053)
2013
9
Retinal involvement in two unrelated patients with Myhre syndrome. (22683461)
2012
10
Genetic basis of Myhre syndrome. (23951433)
2012
11
Mutations of SMAD4 account for both LAPS and Myhre syndromes. (22585601)
2012
12
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. (22158539)
2012
13
First case of a Japanese girl with Myhre syndrome due to a heterozygous SMAD4 mutation. (22711472)
2012
14
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. (22243968)
2012
15
Myhre syndrome with ataxia and cerebellar atrophy. (21490502)
2011
16
Clinical features and respiratory complications in Myhre syndrome. (21816239)
2011
17
LAPS syndrome and Myhre syndrome: two disorders or one? (19267408)
2009
18
The fifth female patient with Myhre syndrome: further delineation. (18388781)
2008
19
Myhre syndrome in a female with previously undescribed symptoms: further delineation of the phenotype. (16278892)
2005
20
Second female case of Myhre syndrome. (15057124)
2004
21
Myhre syndrome: new reports, review, and differential diagnosis. (12843331)
2003
22
Myhre syndrome: first female case. (12868475)
2003
23
Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution. (12116212)
2002
24
Case of Myhre syndrome with autism and peculiar skin histological findings. (11568925)
2001
25
A new case of Myhre syndrome. (11310994)
2001
26
Geleophysic dysplasia vs. Myhre syndrome. (8923952)
1996
27
The Myhre syndrome: report of two cases. (8261650)
1993

Variations for Myhre Syndrome

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

67
id Symbol AA change Variation ID SNP ID
1SMAD4p.Ile500MetVAR_067602rs281875320
2SMAD4p.Ile500ThrVAR_067603rs281875321
3SMAD4p.Ile500ValVAR_067604rs281875322

Clinvar genetic disease variations for Myhre Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SMAD4NM_005359.5(SMAD4): c.1499T> C (p.Ile500Thr)single nucleotide variantPathogenicrs281875321GRCh37Chr 18, 48604677: 48604677
2SMAD4NM_005359.5(SMAD4): c.1498A> G (p.Ile500Val)single nucleotide variantPathogenicrs281875322GRCh37Chr 18, 48604676: 48604676
3SMAD4NM_005359.5(SMAD4): c.1500A> G (p.Ile500Met)single nucleotide variantPathogenicrs281875320GRCh37Chr 18, 48604678: 48604678
4SMAD4NM_005359.5(SMAD4): c.1486C> T (p.Arg496Cys)single nucleotide variantPathogenicrs397518413GRCh37Chr 18, 48604664: 48604664

Expression for genes affiliated with Myhre Syndrome

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Search GEO for disease gene expression data for Myhre Syndrome.

Pathways for genes affiliated with Myhre Syndrome

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GO Terms for genes affiliated with Myhre Syndrome

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Sources for Myhre Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet