MCID: MYH012
MIFTS: 37

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 50 46 23 24 52 68 12
Laryngotracheal Stenosis, Arthropathy, Prognathism, and Short Stature 46 24
Growth Mental Deficiency Syndrome of Myhre 46 66
Laps Syndrome 46 24
Myhrs 68 25
 
Facial Dysmorphism-Intellectual Disability-Short Stature-Hearing Loss Syndrome 52
Facial Dysmorphism - Intellectual Deficit - Short Stature - Hearing Loss 46
Facial Dysmorphism-Intellectual Deficit-Short Stature-Hearing Loss 24
Growth-Mental Deficiency Syndrome of Myhre 68

Characteristics:

Orphanet epidemiological data:

52
myhre syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

62
myhre syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 139210
Orphanet52 ORPHA2588
ICD10 via Orphanet29 Q87.8
UMLS via Orphanet67 C0796081
MedGen35 C0796081

Summaries for Myhre Syndrome

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UniProtKB/Swiss-Prot:68 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:24 Myhre syndrome is a condition with features affecting many systems and functions of the body.

NIH Rare Diseases:46 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:50 Myhre syndrome is a rare disorder characterized by mental retardation, dysmorphic facial features, including... (139210) more...

Wikipedia:69 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 syndrome12.0
2ruvalcaba churesigaew myhre syndrome12.0
3bannayan-riley-ruvalcaba syndrome10.9
4chromosome 8q22.1 duplication syndrome10.0
5facial paralysis9.8
6pericarditis9.8
7constipation9.8
8retinitis9.8
9geleophysic dysplasia9.8
10ataxia9.8

Graphical network of 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

HPO human phenotypes related to Myhre Syndrome:

(show all 93)
id Description Frequency HPO Source Accession
1 narrow mouth hallmark (90%) HP:0000160
2 thin vermilion border hallmark (90%) HP:0000233
3 malar flattening hallmark (90%) HP:0000272
4 mandibular prognathia hallmark (90%) HP:0000303
5 short philtrum hallmark (90%) HP:0000322
6 hearing impairment hallmark (90%) HP:0000365
7 abnormality of the ribs hallmark (90%) HP:0000772
8 platyspondyly hallmark (90%) HP:0000926
9 brachydactyly syndrome hallmark (90%) HP:0001156
10 limitation of joint mobility hallmark (90%) HP:0001376
11 intrauterine growth retardation hallmark (90%) HP:0001511
12 abnormality of pelvic girdle bone morphology hallmark (90%) HP:0002644
13 skeletal muscle hypertrophy hallmark (90%) HP:0003712
14 short stature hallmark (90%) HP:0004322
15 craniofacial hyperostosis hallmark (90%) HP:0004493
16 cognitive impairment hallmark (90%) HP:0100543
17 cryptorchidism typical (50%) HP:0000028
18 ptosis typical (50%) HP:0000508
19 hypermetropia typical (50%) HP:0000540
20 blepharophimosis typical (50%) HP:0000581
21 hypertension typical (50%) HP:0000822
22 abnormality of the metaphyses typical (50%) HP:0000944
23 thickened skin typical (50%) HP:0001072
24 abnormality of the cardiac septa typical (50%) HP:0001671
25 emg abnormality typical (50%) HP:0003457
26 cleft palate occasional (7.5%) HP:0000175
27 cataract occasional (7.5%) HP:0000518
28 behavioral abnormality occasional (7.5%) HP:0000708
29 precocious puberty occasional (7.5%) HP:0000826
30 hernia of the abdominal wall occasional (7.5%) HP:0004299
31 non-midline cleft lip occasional (7.5%) HP:0100335
32 displacement of the external urethral meatus occasional (7.5%) HP:0100627
33 oral cleft rare (5%) HP:0000202
34 microphthalmia rare (5%) HP:0000568
35 ataxia rare (5%) HP:0001251
36 obesity rare (5%) HP:0001513
37 respiratory insufficiency rare (5%) HP:0002093
38 respiratory failure rare (5%) HP:0002878
39 cryptorchidism HP:0000028
40 narrow mouth HP:0000160
41 thin upper lip vermilion HP:0000219
42 microcephaly HP:0000252
43 malar flattening HP:0000272
44 mandibular prognathia HP:0000303
45 hypertelorism HP:0000316
46 short philtrum HP:0000322
47 hypoplasia of the maxilla HP:0000327
48 hearing impairment HP:0000365
49 low-set ears HP:0000369
50 prominent nasal bridge HP:0000426
51 short neck HP:0000470
52 strabismus HP:0000486
53 deeply set eye HP:0000490
54 hypermetropia HP:0000540
55 thick eyebrow HP:0000574
56 blepharophimosis HP:0000581
57 autism HP:0000717
58 hypertension HP:0000822
59 broad ribs HP:0000885
60 platyspondyly HP:0000926
61 thickened skin HP:0001072
62 brachydactyly syndrome HP:0001156
63 intellectual disability HP:0001249
64 seizures HP:0001250
65 limitation of joint mobility HP:0001376
66 intrauterine growth retardation HP:0001511
67 abnormality of the voice HP:0001608
68 patent ductus arteriosus HP:0001643
69 aortic valve stenosis HP:0001650
70 abnormality of the cardiac septa HP:0001671
71 coarctation of aorta HP:0001680
72 pericardial effusion HP:0001698
73 short toe HP:0001831
74 overlapping toe HP:0001845
75 fine hair HP:0002213
76 thickened calvaria HP:0002684
77 hypoplastic iliac wing HP:0002866
78 vertebral fusion HP:0002948
79 short long bone HP:0003026
80 generalized muscle hypertrophy HP:0003720
81 short stature HP:0004322
82 enlarged vertebral pedicles HP:0004621
83 2-3 toe syndactyly HP:0004691
84 laryngotracheal stenosis HP:0004894
85 sparse hair HP:0008070
86 microtia HP:0008551
87 short finger HP:0009381
88 radial deviation of finger HP:0009466
89 cone-shaped epiphysis HP:0010579
90 midface retrusion HP:0011800
91 camptodactyly HP:0012385
92 stiff skin HP:0030053
93 clinodactyly 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 Syndrome25 23 SMAD4

Anatomical Context for Myhre Syndrome

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MalaCards organs/tissues related to Myhre Syndrome:

34
Heart, Bone, Skin, Eye, Skeletal muscle

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 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:

68
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet