MYHRS
MCID: MYH012
MIFTS: 38

Myhre Syndrome (MYHRS) 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 52 23 48 24 25 54 70 12
Laryngotracheal Stenosis, Arthropathy, Prognathism, and Short Stature 48 25
Growth Mental Deficiency Syndrome of Myhre 48 68
Laryngotracheal Stenosis 23 27
Laps Syndrome 48 25
Arthropathy 23 68
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
Syndrome; Myhre-Laps Syndrome 23
Prognathism,short Stature 23
Laps 23

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

GeneReviews:

23
Penetrance: penetrance appears to be complete; however, no familial cases of myhre syndrome have been reported...


Classifications:



External Ids:

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

Summaries for Myhre Syndrome

About this section
NIH Rare Diseases:48 Myhre syndrome is a rare, connective tissue disorder that affects many parts of the body. signs and symptoms include fibrosis (thickening and scarring of connective tissue), intellectual disability, distinctive facial features, skeletal abnormalities, and/or various birth defects. the syndrome may affect the structure or function of the heart, the respiratory system, the gastrointestinal system, and the skin. myhre syndrome is caused by a mutation in the smad4 gene. the mutation typically occurs for the first time in an affected person. to date, no reported cases have been inherited from a parent. inheritance is autosomal dominant, but there are no reported cases of a person with myhre syndrome having children. treatment addresses each symptom present and may include limiting the risk of trauma to tissues, surgery for birth defects or complications, and routine management of learning delays or behavioral problems. last updated: 5/9/2017

MalaCards based summary: Myhre Syndrome, also known as laryngotracheal stenosis, arthropathy, prognathism, and short stature, is related to camptodactyly-arthropathy-coxa vara-pericarditis syndrome and arthropathy, and has symptoms including arthralgia, back pain and metatarsalgia. An important gene associated with Myhre Syndrome is SMAD4 (SMAD Family Member 4). Affiliated tissues include heart, skin and bone.

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...

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.

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

GeneReviews for NBK425723

Related Diseases for Myhre Syndrome

About this section

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

(show top 50)    (show all 79)
idRelated DiseaseScoreTop Affiliating Genes
1camptodactyly-arthropathy-coxa vara-pericarditis syndrome12.4
2arthropathy12.3
3multicentric osteolysis, nodulosis, and arthropathy12.3
4crystal arthropathies12.3
5arthropathy, progressive pseudorheumatoid, of childhood12.1
6neurogenic arthropathy12.1
7digital arthropathy-brachydactyly, familial12.1
8van allen myhre syndrome11.9
9hemophilic arthropathy11.9
10behcet's syndrome arthropathy11.9
11transient arthropathy11.9
12digital arthropathy-brachydactyly11.9
13ruvalcaba churesigaew myhre syndrome11.8
14multicentric osteolysis-nodulosis-arthropathy spectrum11.7
15progeria-associated arthropathy11.7
16psoriatic arthritis11.6
17reactive arthritis11.5
18joint disorders11.3
19gout11.3
20ankylosis11.1
21osteoarthritis11.0
22familial calcium pyrophosphate deposition11.0
23chondrocalcinosis 211.0
24hemochromatosis, type 2a10.9
25winchester syndrome10.9
26chromosome 8q22.1 duplication syndrome10.9
27mitochondrial dna depletion syndrome 610.8
2810.8
29mpv17-related hepatocerebral mitochondrial dna depletion syndrome10.8
30bannayan-riley-ruvalcaba syndrome10.8
31cinca syndrome10.7
32spondyloepiphyseal dysplasia, kimberley type10.7
33hemochromatosis, type 2b10.7
34hemochromatosis type 210.7
35mandibuloacral dysplasia10.7
3647,xyy syndrome10.7
37wild type abeta2m amyloidosis10.7
38osteoarthritis 110.7
39septic arthritis10.3
40jaccoud's syndrome10.3
41arthritis10.2
42multicentric reticulohistiocytosis10.2
43laryngotracheitis10.1
44rheumatoid arthritis10.1
45facial paralysis9.7
46pericarditis9.7
47constipation9.7
48retinitis9.7
49geleophysic dysplasia9.7
50ataxia9.7

Graphical network of the top 20 diseases related to Myhre Syndrome:



Diseases related to myhre syndrome

Symptoms & Phenotypes for Myhre Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

139210

Clinical features from OMIM:

139210

Human phenotypes related to Myhre Syndrome:

 64 (show all 61)
id Description HPO Frequency HPO Source Accession
1 cryptorchidism64 HP:0000028
2 narrow mouth64 HP:0000160
3 oral cleft64 HP:0000202
4 thin upper lip vermilion64 HP:0000219
5 microcephaly64 HP:0000252
6 malar flattening64 HP:0000272
7 mandibular prognathia64 HP:0000303
8 hypertelorism64 HP:0000316
9 short philtrum64 HP:0000322
10 hypoplasia of the maxilla64 HP:0000327
11 hearing impairment64 HP:0000365
12 low-set ears64 HP:0000369
13 prominent nasal bridge64 HP:0000426
14 short neck64 HP:0000470
15 strabismus64 HP:0000486
16 deeply set eye64 HP:0000490
17 hypermetropia64 HP:0000540
18 microphthalmia64 HP:0000568
19 thick eyebrow64 HP:0000574
20 blepharophimosis64 HP:0000581
21 autism64 HP:0000717
22 hypertension64 HP:0000822
23 broad ribs64 HP:0000885
24 platyspondyly64 HP:0000926
25 thickened skin64 HP:0001072
26 brachydactyly syndrome64 HP:0001156
27 intellectual disability64 HP:0001249
28 seizures64 HP:0001250
29 ataxia64 HP:0001251
30 limitation of joint mobility64 HP:0001376
31 intrauterine growth retardation64 HP:0001511
32 obesity64 HP:0001513
33 abnormality of the voice64 HP:0001608
34 patent ductus arteriosus64 HP:0001643
35 aortic valve stenosis64 HP:0001650
36 abnormality of the cardiac septa64 HP:0001671
37 coarctation of aorta64 HP:0001680
38 pericardial effusion64 HP:0001698
39 short toe64 HP:0001831
40 overlapping toe64 HP:0001845
41 respiratory insufficiency64 HP:0002093
42 fine hair64 HP:0002213
43 thickened calvaria64 HP:0002684
44 hypoplastic iliac wing64 HP:0002866
45 respiratory failure64 HP:0002878
46 vertebral fusion64 HP:0002948
47 short long bone64 HP:0003026
48 generalized muscle hypertrophy64 HP:0003720
49 short stature64 HP:0004322
50 enlarged vertebral pedicles64 HP:0004621
51 2-3 toe syndactyly64 HP:0004691
52 laryngotracheal stenosis64 HP:0004894
53 sparse hair64 HP:0008070
54 microtia64 HP:0008551
55 short finger64 HP:0009381
56 radial deviation of finger64 HP:0009466
57 cone-shaped epiphysis64 HP:0010579
58 midface retrusion64 HP:0011800
59 camptodactyly64 HP:0012385
60 stiff skin64 HP:0030053
61 clinodactyly64 HP:0030084

UMLS symptoms related to Myhre Syndrome:


arthralgia, back pain, metatarsalgia, muscle cramp, sciatica, joint swelling, other symptoms referable to joint, other symptoms referable to joint, shoulder region, other symptoms referable to joint, upper arm, other symptoms referable to joint, forearm, other symptoms referable to joint, hand, other symptoms referable to joint, pelvic region and thigh, other symptoms referable to joint, lower leg, other symptoms referable to joint, ankle and foot, other symptoms referable to joint, other specified sites, other symptoms referable to joint, multiple sites, joint stiffness, musculoskeletal symptom, other symptoms referable to joint, site unspecified, joint symptom, stiffness of joint, not elsewhere classified in icd10cm, thick skin

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 Syndrome27 24 SMAD4
2 Laryngotracheal Stenosis27

Anatomical Context for Myhre Syndrome

About this section

MalaCards organs/tissues related to Myhre Syndrome:

36
Heart, Skin, Bone, Eye

Publications for Myhre Syndrome

About this section

Articles related to Myhre Syndrome:

(show all 31)
idTitleAuthorsYear
1
Severe constipation in a patient with Myhre syndrome: a case report. (26636501)
2016
2
Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome. (27302097)
2016
3
Natural history and life-threatening complications in Myhre syndrome and review of the literature. (27562837)
2016
4
Myhre syndrome with facial paralysis and branch pulmonary stenosis. (25486016)
2015
5
Myhre syndrome: Clinical features and restrictive cardiopulmonary complications. (26420300)
2015
6
Myhre syndrome. (24580733)
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
SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan. (24398790)
2014
10
Myhre syndrome: a rare craniofacial disorder. (25252769)
2014
11
Recurrent pericarditis in Myhre syndrome. (23610053)
2013
12
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. (22243968)
2012
13
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. (22158539)
2012
14
First case of a Japanese girl with Myhre syndrome due to a heterozygous SMAD4 mutation. (22711472)
2012
15
Retinal involvement in two unrelated patients with Myhre syndrome. (22683461)
2012
16
Mutations of SMAD4 account for both LAPS and Myhre syndromes. (22585601)
2012
17
Genetic basis of Myhre syndrome. (23951433)
2012
18
Myhre syndrome with ataxia and cerebellar atrophy. (21490502)
2011
19
Clinical features and respiratory complications in Myhre syndrome. (21816239)
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
31
Myhre Syndrome (28406602)
1993

Variations for Myhre Syndrome

About this section

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

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
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