MCID: MYH012
MIFTS: 35

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 52 48 24 25 54 70 12
Laryngotracheal Stenosis, Arthropathy, Prognathism, and Short Stature 48 25
Growth Mental Deficiency Syndrome of Myhre 48 68
Laps Syndrome 48 25
Myhrs 70 27
 
Facial Dysmorphism-Intellectual Disability-Short Stature-Hearing Loss Syndrome 54
Facial Dysmorphism - Intellectual Deficit - Short Stature - Hearing Loss 48
Facial Dysmorphism-Intellectual Deficit-Short Stature-Hearing Loss 25
Growth-Mental Deficiency Syndrome of Myhre 70

Characteristics:

Orphanet epidemiological data:

54
myhre syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

64
myhre syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 139210
Orphanet54 ORPHA2588
UMLS via Orphanet69 C0796081
ICD10 via Orphanet31 Q87.8
MedGen37 C0796081

Summaries for Myhre Syndrome

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UniProtKB/Swiss-Prot:70 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.

OMIM:52 Myhre syndrome is a rare disorder characterized by mental retardation, dysmorphic facial features, including... (139210) more...

NIH Rare Diseases:48 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

Wikipedia:71 Myhre syndrome is a rare genetic disorder. more...

Related Diseases for Myhre Syndrome

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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 & Phenotypes for Myhre Syndrome

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Symptoms by clinical synopsis from OMIM:

139210

Clinical features from OMIM:

139210

Human phenotypes related to Myhre Syndrome:

 64 (show all 77)
id Description HPO Frequency HPO Source Accession
1 narrow mouth64 hallmark (90%) HP:0000160
2 thin vermilion border64 hallmark (90%) HP:0000233
3 malar flattening64 hallmark (90%) HP:0000272
4 mandibular prognathia64 hallmark (90%) HP:0000303
5 short philtrum64 hallmark (90%) HP:0000322
6 hearing impairment64 hallmark (90%) HP:0000365
7 abnormality of the ribs64 hallmark (90%) HP:0000772
8 platyspondyly64 hallmark (90%) HP:0000926
9 brachydactyly syndrome64 hallmark (90%) HP:0001156
10 limitation of joint mobility64 hallmark (90%) HP:0001376
11 intrauterine growth retardation64 hallmark (90%) HP:0001511
12 abnormality of pelvic girdle bone morphology64 hallmark (90%) HP:0002644
13 skeletal muscle hypertrophy64 hallmark (90%) HP:0003712
14 short stature64 hallmark (90%) HP:0004322
15 craniofacial hyperostosis64 hallmark (90%) HP:0004493
16 cognitive impairment64 hallmark (90%) HP:0100543
17 cryptorchidism64 typical (50%) HP:0000028
18 ptosis64 typical (50%) HP:0000508
19 hypermetropia64 typical (50%) HP:0000540
20 blepharophimosis64 typical (50%) HP:0000581
21 hypertension64 typical (50%) HP:0000822
22 abnormality of the metaphyses64 typical (50%) HP:0000944
23 thickened skin64 typical (50%) HP:0001072
24 abnormality of the cardiac septa64 typical (50%) HP:0001671
25 emg abnormality64 typical (50%) HP:0003457
26 cleft palate64 occasional (7.5%) HP:0000175
27 cataract64 occasional (7.5%) HP:0000518
28 behavioral abnormality64 occasional (7.5%) HP:0000708
29 precocious puberty64 occasional (7.5%) HP:0000826
30 hernia of the abdominal wall64 occasional (7.5%) HP:0004299
31 non-midline cleft lip64 occasional (7.5%) HP:0100335
32 displacement of the external urethral meatus64 occasional (7.5%) HP:0100627
33 oral cleft64 rare (5%) HP:0000202
34 microphthalmia64 rare (5%) HP:0000568
35 ataxia64 rare (5%) HP:0001251
36 obesity64 rare (5%) HP:0001513
37 respiratory insufficiency64 rare (5%) HP:0002093
38 respiratory failure64 rare (5%) HP:0002878
39 thin upper lip vermilion64 HP:0000219
40 microcephaly64 HP:0000252
41 hypertelorism64 HP:0000316
42 hypoplasia of the maxilla64 HP:0000327
43 low-set ears64 HP:0000369
44 prominent nasal bridge64 HP:0000426
45 short neck64 HP:0000470
46 strabismus64 HP:0000486
47 deeply set eye64 HP:0000490
48 thick eyebrow64 HP:0000574
49 autism64 HP:0000717
50 broad ribs64 HP:0000885
51 intellectual disability64 HP:0001249
52 seizures64 HP:0001250
53 abnormality of the voice64 HP:0001608
54 patent ductus arteriosus64 HP:0001643
55 aortic valve stenosis64 HP:0001650
56 coarctation of aorta64 HP:0001680
57 pericardial effusion64 HP:0001698
58 short toe64 HP:0001831
59 overlapping toe64 HP:0001845
60 fine hair64 HP:0002213
61 thickened calvaria64 HP:0002684
62 hypoplastic iliac wing64 HP:0002866
63 vertebral fusion64 HP:0002948
64 short long bone64 HP:0003026
65 generalized muscle hypertrophy64 HP:0003720
66 enlarged vertebral pedicles64 HP:0004621
67 2-3 toe syndactyly64 HP:0004691
68 laryngotracheal stenosis64 HP:0004894
69 sparse hair64 HP:0008070
70 microtia64 HP:0008551
71 short finger64 HP:0009381
72 radial deviation of finger64 HP:0009466
73 cone-shaped epiphysis64 HP:0010579
74 midface retrusion64 HP:0011800
75 camptodactyly64 HP:0012385
76 stiff skin64 HP:0030053
77 clinodactyly64 HP:0030084

UMLS symptoms related to Myhre Syndrome:


thick skin, observation of narrowing of palpebral fissure

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 Syndrome27 24 SMAD4

Anatomical Context for Myhre Syndrome

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MalaCards organs/tissues related to Myhre Syndrome:

36
Heart, Bone, Skin, Eye, Skeletal muscle

Publications for Myhre Syndrome

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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

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

70
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

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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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet