MCID: MYH012
MIFTS: 30

Myhre Syndrome malady

Neuronal, Fetal categories

Summaries for Myhre Syndrome

Sources:
21Genetics Home Reference, 47OMIM, 33MalaCards
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Genetics Home Reference:21 Myhre syndrome is a condition with features affecting many systems and functions of the body.

MalaCards: Myhre Syndrome, also known as facial dysmorphism - intellectual deficit - short stature - hearing loss, is related to ruvalcaba churesigaew myhre syndrome and van allen myhre syndrome, and has symptoms including dense/thickened skull/calvarium/cranial/facial hyperostosis, mid-facial hypoplasia/short/small midface and hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia. An important gene associated with Myhre Syndrome is SMAD4 (SMAD family member 4). Affiliated tissues include heart and skin.

Description from OMIM:47 139210

Aliases & Classifications for Myhre Syndrome

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal


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
facial dysmorphism - intellectual deficit - short stature - hearing loss 43 49
laryngotracheal stenosis, arthropathy, prognathism, and short stature 43 21
growth mental deficiency syndrome of myhre 43 61
laps syndrome 43 21
facial dysmorphism-intellectual deficit-short stature-hearing loss 21


External Ids:

OMIM47 139210
ICD10 via Orphanet26 Q87.8

Related Diseases for Myhre Syndrome

Sources:
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
4geleophysic dysplasia10.1
5ataxia10.1

Graphical network of diseases related to Myhre Syndrome:



Diseases related to myhre syndrome

Clinical Features for Myhre Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

139210

Clinical synopsis from OMIM:

139210

Symptoms:

49 (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

Drugs & Therapeutics for Myhre Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Myhre Syndrome

Drug clinical trials:

Search ClinicalTrials for Myhre Syndrome

Search NIH Clinical Center for Myhre Syndrome

Search CenterWatch for Myhre Syndrome

Genetic Tests for Myhre Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Myhre Syndrome:

id Genetic test Affiliating Genes
1 Myhre Syndrome20 22 SMAD4

Anatomical Context for Myhre Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Myhre Syndrome:

33
Heart, Skin

Animal Models for Myhre Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Myhre Syndrome

Sources:
51PubMed
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Articles related to Myhre Syndrome:

(show all 23)
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
Myhre-GOMBO syndrome: possible lumping of two &quot;old&quot; new syndromes. (8585577)
1995
22
The Myhre syndrome: report of two cases. (8261650)
1993
23
Dominantly inherited megalencephaly, muscle weakness, and myoliposis: a carnitine-deficient myopathy within the spectrum of the Ruvalcaba-Myhre-Smith syndrome. (8320628)
1993

Genetic Variations for Myhre Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Myhre Syndrome:

63
id Symbol AA change Variation SNP ID
1SMAD4p.Ile500MetVAR_067602rs281875320
2SMAD4p.Ile500ThrVAR_067603rs281875321
3SMAD4p.Ile500ValVAR_067604rs281875322

Expression for genes affiliated with Myhre Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myhre Syndrome

Search GEO for disease gene expression data for Myhre Syndrome.

Pathways for genes affiliated with Myhre Syndrome

Compounds for genes affiliated with Myhre Syndrome

GO Terms for genes affiliated with Myhre Syndrome

Products for genes affiliated with Myhre Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myhre Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet