MCID: MYH012
MIFTS: 38

Myhre Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Mental diseases categories
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Summaries for Myhre Syndrome

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Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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

MalaCards: 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 intrauterine growth retardation, lateral cleft lip/gingival cleft/paramedian nasal cleft and undescended/ectopic testes/cryptorchidia/unfixed testes. An important gene associated with Myhre Syndrome is SMAD4 (SMAD family member 4). Affiliated tissues include bone, heart and skin.

Genetics Home Reference:21 Myhre syndrome is a condition with features affecting many systems and functions of the body.

Wikipedia:65 Myhre syndrome is a rare genetic disorder. more...

Description from OMIM:47 139210

Aliases & Classifications for Myhre Syndrome

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43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
myhre syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

myhre syndrome 43 20 22 21 47 49
laryngotracheal stenosis, arthropathy, prognathism, and short stature 43 21
growth mental deficiency syndrome of myhre 43 62
laps syndrome 43 21
facial dysmorphism - intellectual disability - short stature - hearing loss 49
facial dysmorphism - intellectual deficit - short stature - hearing loss 43
facial dysmorphism-intellectual deficit-short stature-hearing loss 21


External Ids:

OMIM47 139210
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet63 C0796081

Related Diseases for Myhre Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Myhre Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1ruvalcaba churesigaew myhre syndrome10.4
2van allen myhre syndrome10.4
3bannayan-riley-ruvalcaba syndrome10.1
4pericarditis10.1
5retinitis10.1
6geleophysic dysplasia10.1
7leri pleonosteosis10.1
8ataxia10.1

Graphical network of diseases related to Myhre Syndrome:



Diseases related to myhre syndrome

Symptoms for Myhre Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

139210

Clinical features from OMIM:

139210

Symptoms:

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

Drugs & Therapeutics for Myhre Syndrome

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Myhre Syndrome

Search NIH Clinical Center for Myhre Syndrome

Genetic Tests for Myhre Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Myhre Syndrome:

id Genetic test Affiliating Genes
1 Myhre Syndrome20 22 SMAD4

Anatomical Context for Myhre Syndrome

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33MalaCards
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MalaCards organs/tissues related to Myhre Syndrome:

33
Bone, Heart, Skin, Testes

Animal Models for Myhre Syndrome or affiliated genes

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Publications for Myhre Syndrome

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52PubMed
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Articles related to Myhre Syndrome:

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

Variations for Myhre Syndrome

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Myhre Syndrome:

64
id Symbol AA change Variation ID SNP ID
1SMAD4p.Ile500MetVAR_067602rs281875320
2SMAD4p.Ile500ThrVAR_067603rs281875321
3SMAD4p.Ile500ValVAR_067604rs281875322

Clinvar genetic disease variations for Myhre Syndrome:

1
id Gene Name 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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myhre Syndrome

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Pathways for genes affiliated with Myhre Syndrome

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Compounds for genes affiliated with Myhre Syndrome

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GO Terms for genes affiliated with Myhre Syndrome

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Products for genes affiliated with Myhre Syndrome

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Sources for Myhre Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet