MCID: MYH012
MIFTS: 38

Myhre Syndrome malady

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

Summaries for Myhre Syndrome

About this section
Sources:
44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NIH Rare Diseases:44 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.

Wikipedia:66 Myhre syndrome is a rare genetic disorder. more...

Description from OMIM:48 139210

Aliases & Classifications for Myhre Syndrome

About this section
Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
myhre syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

myhre syndrome 44 21 23 22 48 50
laryngotracheal stenosis, arthropathy, prognathism, and short stature 44 22
growth mental deficiency syndrome of myhre 44 63
laps syndrome 44 22
facial dysmorphism - intellectual disability - short stature - hearing loss 50
facial dysmorphism - intellectual deficit - short stature - hearing loss 44
facial dysmorphism-intellectual deficit-short stature-hearing loss 22


External Ids:

OMIM48 139210
ICD10 via Orphanet27 Q87.8
UMLS via Orphanet64 C0796081

Related Diseases for Myhre Syndrome

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

About this section
Sources:
48OMIM, 50Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

139210

Clinical features from OMIM:

139210

Symptoms:

50 (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

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

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

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Myhre Syndrome:

id Genetic test Affiliating Genes
1 Myhre Syndrome21 23 SMAD4

Anatomical Context for Myhre Syndrome

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Myhre Syndrome:

34
Bone, Heart, Skin, Testes

Animal Models for Myhre Syndrome or affiliated genes

About this section

Publications for Myhre Syndrome

About this section
Sources:
53PubMed
See all sources

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

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

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

65
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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Myhre Syndrome

About this section

GO Terms for genes affiliated with Myhre Syndrome

About this section

Products for genes affiliated with Myhre Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myhre Syndrome

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet