MCID: MYH012
MIFTS: 35

Myhre Syndrome malady

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

Aliases & Classifications for Myhre Syndrome

About this section

Aliases & Descriptions for Myhre Syndrome:

Name: Myhre Syndrome 51 47 24 25 53 69 12
Laryngotracheal Stenosis, Arthropathy, Prognathism, and Short Stature 47 25
Growth Mental Deficiency Syndrome of Myhre 47 67
Laps Syndrome 47 25
Myhrs 69 26
 
Facial Dysmorphism-Intellectual Disability-Short Stature-Hearing Loss Syndrome 53
Facial Dysmorphism - Intellectual Deficit - Short Stature - Hearing Loss 47
Facial Dysmorphism-Intellectual Deficit-Short Stature-Hearing Loss 25
Growth-Mental Deficiency Syndrome of Myhre 69

Characteristics:

Orphanet epidemiological data:

53
myhre syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

63
myhre syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 139210
Orphanet53 ORPHA2588
UMLS via Orphanet68 C0796081
ICD10 via Orphanet30 Q87.8
MedGen36 C0796081

Summaries for Myhre Syndrome

About this section
UniProtKB/Swiss-Prot:69 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 van allen myhre syndrome and ruvalcaba churesigaew myhre syndrome, and has symptoms including narrow mouth, thin vermilion border and malar flattening. An important gene associated with Myhre Syndrome is SMAD4 (SMAD Family Member 4). Affiliated tissues include heart, bone and skin.

Genetics Home Reference:25 Myhre syndrome is a condition with features affecting many systems and functions of the body.

NIH Rare Diseases:47 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

OMIM:51 Myhre syndrome is a rare disorder characterized by mental retardation, dysmorphic facial features, including... (139210) more...

Wikipedia:70 Myhre syndrome is a rare genetic disorder. more...

Related Diseases for Myhre Syndrome

About this section

Diseases related to Myhre Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1van allen myhre syndrome11.9
2ruvalcaba churesigaew myhre syndrome11.8
3chromosome 8q22.1 duplication syndrome10.9
4bannayan-riley-ruvalcaba syndrome10.8
5facial paralysis9.7
6pericarditis9.7
7constipation9.7
8retinitis9.7
9geleophysic dysplasia9.7
10ataxia9.7

Graphical network of diseases related to Myhre Syndrome:



Diseases related to myhre syndrome

Symptoms for Myhre Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

139210

Clinical features from OMIM:

139210

Human phenotypes related to Myhre Syndrome:

 63 (show all 77)
id Description HPO Frequency HPO Source Accession
1 narrow mouth63 hallmark (90%) HP:0000160
2 thin vermilion border63 hallmark (90%) HP:0000233
3 malar flattening63 hallmark (90%) HP:0000272
4 mandibular prognathia63 hallmark (90%) HP:0000303
5 short philtrum63 hallmark (90%) HP:0000322
6 hearing impairment63 hallmark (90%) HP:0000365
7 abnormality of the ribs63 hallmark (90%) HP:0000772
8 platyspondyly63 hallmark (90%) HP:0000926
9 brachydactyly syndrome63 hallmark (90%) HP:0001156
10 limitation of joint mobility63 hallmark (90%) HP:0001376
11 intrauterine growth retardation63 hallmark (90%) HP:0001511
12 abnormality of pelvic girdle bone morphology63 hallmark (90%) HP:0002644
13 skeletal muscle hypertrophy63 hallmark (90%) HP:0003712
14 short stature63 hallmark (90%) HP:0004322
15 craniofacial hyperostosis63 hallmark (90%) HP:0004493
16 cognitive impairment63 hallmark (90%) HP:0100543
17 cryptorchidism63 typical (50%) HP:0000028
18 ptosis63 typical (50%) HP:0000508
19 hypermetropia63 typical (50%) HP:0000540
20 blepharophimosis63 typical (50%) HP:0000581
21 hypertension63 typical (50%) HP:0000822
22 abnormality of the metaphyses63 typical (50%) HP:0000944
23 thickened skin63 typical (50%) HP:0001072
24 abnormality of the cardiac septa63 typical (50%) HP:0001671
25 emg abnormality63 typical (50%) HP:0003457
26 cleft palate63 occasional (7.5%) HP:0000175
27 cataract63 occasional (7.5%) HP:0000518
28 behavioral abnormality63 occasional (7.5%) HP:0000708
29 precocious puberty63 occasional (7.5%) HP:0000826
30 hernia of the abdominal wall63 occasional (7.5%) HP:0004299
31 non-midline cleft lip63 occasional (7.5%) HP:0100335
32 displacement of the external urethral meatus63 occasional (7.5%) HP:0100627
33 oral cleft63 rare (5%) HP:0000202
34 microphthalmia63 rare (5%) HP:0000568
35 ataxia63 rare (5%) HP:0001251
36 obesity63 rare (5%) HP:0001513
37 respiratory insufficiency63 rare (5%) HP:0002093
38 respiratory failure63 rare (5%) HP:0002878
39 thin upper lip vermilion63 HP:0000219
40 microcephaly63 HP:0000252
41 hypertelorism63 HP:0000316
42 hypoplasia of the maxilla63 HP:0000327
43 low-set ears63 HP:0000369
44 prominent nasal bridge63 HP:0000426
45 short neck63 HP:0000470
46 strabismus63 HP:0000486
47 deeply set eye63 HP:0000490
48 thick eyebrow63 HP:0000574
49 autism63 HP:0000717
50 broad ribs63 HP:0000885
51 intellectual disability63 HP:0001249
52 seizures63 HP:0001250
53 abnormality of the voice63 HP:0001608
54 patent ductus arteriosus63 HP:0001643
55 aortic valve stenosis63 HP:0001650
56 coarctation of aorta63 HP:0001680
57 pericardial effusion63 HP:0001698
58 short toe63 HP:0001831
59 overlapping toe63 HP:0001845
60 fine hair63 HP:0002213
61 thickened calvaria63 HP:0002684
62 hypoplastic iliac wing63 HP:0002866
63 vertebral fusion63 HP:0002948
64 short long bone63 HP:0003026
65 generalized muscle hypertrophy63 HP:0003720
66 enlarged vertebral pedicles63 HP:0004621
67 2-3 toe syndactyly63 HP:0004691
68 laryngotracheal stenosis63 HP:0004894
69 sparse hair63 HP:0008070
70 microtia63 HP:0008551
71 short finger63 HP:0009381
72 radial deviation of finger63 HP:0009466
73 cone-shaped epiphysis63 HP:0010579
74 midface retrusion63 HP:0011800
75 camptodactyly63 HP:0012385
76 stiff skin63 HP:0030053
77 clinodactyly63 HP:0030084

UMLS symptoms related to Myhre Syndrome:


thick skin, observation of narrowing of palpebral fissure

Drugs & Therapeutics for Myhre Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Myhre Syndrome

Genetic Tests for Myhre Syndrome

About this section

Genetic tests related to Myhre Syndrome:

id Genetic test Affiliating Genes
1 Myhre Syndrome26 24 SMAD4

Anatomical Context for Myhre Syndrome

About this section

MalaCards organs/tissues related to Myhre Syndrome:

35
Heart, Bone, Skin, Eye, Skeletal muscle

Animal Models for Myhre Syndrome or affiliated genes

About this section

Publications for Myhre Syndrome

About this section

Articles related to Myhre Syndrome:

(show all 30)
idTitleAuthorsYear
1
Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome. (27302097)
2016
2
Severe constipation in a patient with Myhre syndrome: a case report. (26636501)
2016
3
Natural history and life-threatening complications in Myhre syndrome and review of the literature. (27562837)
2016
4
Myhre syndrome: Clinical features and restrictive cardiopulmonary complications. (26420300)
2015
5
Myhre syndrome with facial paralysis and branch pulmonary stenosis. (25486016)
2015
6
SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan. (24398790)
2014
7
Bilateral otospongiosis and a unilateral vestibular schwannoma in a patient with Myhre syndrome. (24841914)
2014
8
Novel SMAD4 mutation causing Myhre syndrome. (24715504)
2014
9
Myhre syndrome: a rare craniofacial disorder. (25252769)
2014
10
Myhre syndrome. (24580733)
2014
11
Recurrent pericarditis in Myhre syndrome. (23610053)
2013
12
Genetic basis of Myhre syndrome. (23951433)
2012
13
Mutations of SMAD4 account for both LAPS and Myhre syndromes. (22585601)
2012
14
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. (22158539)
2012
15
First case of a Japanese girl with Myhre syndrome due to a heterozygous SMAD4 mutation. (22711472)
2012
16
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. (22243968)
2012
17
Retinal involvement in two unrelated patients with Myhre syndrome. (22683461)
2012
18
Clinical features and respiratory complications in Myhre syndrome. (21816239)
2011
19
Myhre syndrome with ataxia and cerebellar atrophy. (21490502)
2011
20
LAPS syndrome and Myhre syndrome: two disorders or one? (19267408)
2009
21
The fifth female patient with Myhre syndrome: further delineation. (18388781)
2008
22
Myhre syndrome in a female with previously undescribed symptoms: further delineation of the phenotype. (16278892)
2005
23
Second female case of Myhre syndrome. (15057124)
2004
24
Myhre syndrome: new reports, review, and differential diagnosis. (12843331)
2003
25
Myhre syndrome: first female case. (12868475)
2003
26
Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution. (12116212)
2002
27
A new case of Myhre syndrome. (11310994)
2001
28
Case of Myhre syndrome with autism and peculiar skin histological findings. (11568925)
2001
29
Geleophysic dysplasia vs. Myhre syndrome. (8923952)
1996
30
The Myhre syndrome: report of two cases. (8261650)
1993

Variations for Myhre Syndrome

About this section

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

69
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)SNVPathogenicrs281875321GRCh37Chr 18, 48604677: 48604677
2SMAD4NM_005359.5(SMAD4): c.1498A> G (p.Ile500Val)SNVPathogenicrs281875322GRCh37Chr 18, 48604676: 48604676
3SMAD4NM_005359.5(SMAD4): c.1500A> G (p.Ile500Met)SNVPathogenicrs281875320GRCh37Chr 18, 48604678: 48604678
4SMAD4NM_005359.5(SMAD4): c.1486C> T (p.Arg496Cys)SNVPathogenicrs397518413GRCh37Chr 18, 48604664: 48604664

Expression for genes affiliated with Myhre Syndrome

About this section
Search GEO for disease gene expression data for Myhre Syndrome.

Pathways for genes affiliated with Myhre Syndrome

About this section

GO Terms for genes affiliated with Myhre Syndrome

About this section

Sources for Myhre Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet