MCID: MYH012
MIFTS: 39

Myhre Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Mental diseases

Aliases & Classifications for Myhre Syndrome

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Aliases & Descriptions for Myhre Syndrome:

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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
myhre syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 139210
Orphanet51 2588
ICD10 via Orphanet28 Q87.8
UMLS via Orphanet66 C0796081
MedGen34 C0796081
UMLS65 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 cognitive impairment, craniofacial hyperostosis and short stature. An important gene associated with Myhre Syndrome is SMAD4 (SMAD Family Member 4). Affiliated tissues include heart, bone and skin.

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

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

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

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 SMAD4

Anatomical Context for Myhre Syndrome

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MalaCards organs/tissues related to Myhre Syndrome:

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

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
Practical and social skills of 16-19-year-olds with Down syndrome: independence still far away. (24157404)
2013
2
ACE and ADD1 gene in extra and intracranial atherosclerosis in ischaemic stroke. (23540412)
2013
3
Optic nerve head drusen in an eye with morning glory disc anomaly. (21805072)
2012
4
Autoimmune thyrotoxicosis with achalasia cardia. (19802553)
2009
5
Immunohistochemical panel to identify the primary site of invasive micropapillary carcinoma. (19238079)
2009
6
Long-term results of bare sclera, limbal-conjunctival autograft and amniotic membrane graft techniques in primary pterygium excisions. (19339811)
2009
7
The value of small bowel magnetic resonance imaging in the management of enteropathy associated T-cell lymphoma. (18477052)
2008
8
c-Met and HGF expression in non-small-cell lung carcinomas]. (17598453)
2007
9
Mechanisms, molecular and sero-epidemiology of antimicrobial resistance in bacterial respiratory pathogens isolated from Japanese children. (17697316)
2007
10
Search for mitochondrial DNA T4291C mutation in Hungarian patients with metabolic syndrome]. (16734181)
2006
11
Apelin (65-77) activates p70 S6 kinase and is mitogenic for umbilical endothelial cells. (15385434)
2004
12
Decreased expression of transcription factor GATA-2 in haematopoietic stem cells in patients with aplastic anaemia. (11328281)
2001
13
Protection against exotoxin A (ETA) and Pseudomonas aeruginosa infection in mice with ETA-specific antipeptide antibodies. (9784572)
1998
14
Mass spectrometry and EST-database searching allows characterization of the multi-protein spliceosome complex. (9731529)
1998
15
Co-expression of TNF alpha and IL-1 beta in human acute pulmonary fibrotic diseases: an immunohistochemical analysis. (10846556)
1996
16
Evaluation and clinical application of the Enterotest for the determination of human biliary porphyrin composition. (7548456)
1995
17
Cloning and expression of a prostaglandin E receptor EP3 subtype from human erythroleukaemia cells. (8135729)
1994
18
Cyclic ADP-ribose in insulin secretion from pancreatic beta cells. (8420005)
1993
19
Allelic amino acid substitutions affect the conformation and immunoreactivity of germ-cell alkaline phosphatase phenotypes. (1281052)
1992
20
Immunohistochemical detection of the epidermal growth factor receptor in paraffin-embedded human tissues. (1681040)
1991
21
Variants of human seminal acrosin inhibitor (HUSI-II) which inhibit human leukocyte elastase. (1801743)
1991
22
Association of congenital megacalycosis and ipsilateral segmental megaureter. (3822580)
1987
23
A study of pulmonary ligament arteries. Relationship to intralobar pulmonary sequestration. (6478904)
1984
24
Assessment of urinary tract obstruction using a perfusion technique. (1005670)
1976
25
Morpheaform basal cell carcinoma. (5676900)
1968
26
Endemic goiter in Guatemala. (13268800)
1955
27

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