MCID: MYH012
MIFTS: 33

Myhre Syndrome malady

Neuronal diseases, Fetal diseases categories

Summaries for Myhre Syndrome

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Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 facial dysmorphism - intellectual deficit - short stature - hearing loss, 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:63 Myhre syndrome is a rare genetic disorder. more...

Description from OMIM:46 139210

Aliases & Classifications for Myhre Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
myhre syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

myhre syndrome 42 20 22 21 46 48
facial dysmorphism - intellectual deficit - short stature - hearing loss 42 48
laryngotracheal stenosis, arthropathy, prognathism, and short stature 42 21
growth mental deficiency syndrome of myhre 42 60
laps syndrome 42 21
facial dysmorphism-intellectual deficit-short stature-hearing loss 21


External Ids:

OMIM46 139210
ICD10 via Orphanet26 Q87.8

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
4cerebellar ataxia10.1
5pericarditis10.1
6retinitis10.1
7geleophysic dysplasia10.1

Graphical network of diseases related to Myhre Syndrome:



Diseases related to myhre syndrome

Clinical Features for Myhre Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

139210

Clinical synopsis from OMIM:

139210

Symptoms:

48 (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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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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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32MalaCards
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MalaCards organs/tissues related to Myhre Syndrome:

32
Bone, Heart, Skin, Testes

Animal Models for Myhre Syndrome or affiliated genes

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Publications for Myhre Syndrome

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Genetic Variations for Myhre Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Myhre Syndrome:

62
id Symbol AA change Variation ID SNP ID
1SMAD4p.Ile500MetVAR_067602rs281875320
2SMAD4p.Ile500ThrVAR_067603rs281875321
3SMAD4p.Ile500ValVAR_067604rs281875322

Expression for genes affiliated with Myhre Syndrome

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1BioGPS, 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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myhre Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet