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

Aliases & Descriptions for Myhre Syndrome:

Name: Myhre Syndrome 54 23 50 24 25 56 66 13
Laryngotracheal Stenosis, Arthropathy, Prognathism, and Short Stature 50 25
Growth Mental Deficiency Syndrome of Myhre 50 69
Laryngotracheal Stenosis 23 29
Laps Syndrome 50 25
Arthropathy 23 69
Myhrs 66 29
Facial Dysmorphism-Intellectual Disability-Short Stature-Hearing Loss Syndrome 56
Facial Dysmorphism - Intellectual Deficit - Short Stature - Hearing Loss 50
Facial Dysmorphism-Intellectual Deficit-Short Stature-Hearing Loss 25
Growth-Mental Deficiency Syndrome of Myhre 66
Syndrome; Myhre-Laps Syndrome 23
Prognathism,short Stature 23
Laps 23

Characteristics:

Orphanet epidemiological data:

56
myhre syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

GeneReviews:

23
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:

OMIM 54 139210
Orphanet 56 ORPHA2588
UMLS via Orphanet 70 C0796081
ICD10 via Orphanet 34 Q87.8
MedGen 40 C0796081

Summaries for Myhre Syndrome

NIH Rare Diseases : 50 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 ataxia, seizures and malar flattening. 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 : 54 Myhre syndrome is a rare disorder characterized by mental retardation, dysmorphic facial features, including... (139210) more...

UniProtKB/Swiss-Prot : 66 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... more...

GeneReviews: NBK425723

Related Diseases for Myhre Syndrome

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

(show top 50) (show all 78)
id Related Disease Score Top Affiliating Genes
1 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 12.4
2 arthropathy 12.3
3 multicentric osteolysis, nodulosis, and arthropathy 12.3
4 crystal arthropathies 12.3
5 arthropathy, progressive pseudorheumatoid, of childhood 12.1
6 neurogenic arthropathy 12.1
7 digital arthropathy-brachydactyly, familial 12.1
8 van allen myhre syndrome 11.9
9 hemophilic arthropathy 11.9
10 behcet's syndrome arthropathy 11.9
11 transient arthropathy 11.9
12 digital arthropathy-brachydactyly 11.9
13 ruvalcaba churesigaew myhre syndrome 11.8
14 multicentric osteolysis-nodulosis-arthropathy spectrum 11.7
15 progeria-associated arthropathy 11.7
16 psoriatic arthritis 11.6
17 reactive arthritis 11.5
18 joint disorders 11.3
19 gout 11.3
20 ankylosis 11.1
21 osteoarthritis 11.0
22 familial calcium pyrophosphate deposition 11.0
23 chondrocalcinosis 2 11.0
24 winchester syndrome 10.9
25 hemochromatosis, type 2a 10.9
26 chromosome 8q22.1 duplication syndrome 10.9
27 mpv17-related hepatocerebral mitochondrial dna depletion syndrome 10.8
28 mitochondrial dna depletion syndrome 6 10.8
29 bannayan-riley-ruvalcaba syndrome 10.8
30 spondyloepiphyseal dysplasia, kimberley type 10.7
31 hemochromatosis, type 2b 10.7
32 hemochromatosis type 2 10.7
33 cinca syndrome 10.7
34 47,xyy syndrome 10.7
35 wild type abeta2m amyloidosis 10.7
36 osteoarthritis 1 10.7
37 mandibuloacral dysplasia 10.7
38 septic arthritis 10.3
39 jaccoud's syndrome 10.3
40 arthritis 10.2
41 multicentric reticulohistiocytosis 10.2
42 laryngotracheitis 10.1
43 rheumatoid arthritis 10.1
44 ataxia 9.7
45 facial paralysis 9.7
46 geleophysic dysplasia 9.7
47 pericarditis 9.7
48 constipation 9.7
49 retinitis 9.7
50 keloids 9.7

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



Diseases related to Myhre Syndrome

Symptoms & Phenotypes for Myhre Syndrome

Symptoms by clinical synopsis from OMIM:

139210

Clinical features from OMIM:

139210

Human phenotypes related to Myhre Syndrome:

32 (show top 50) (show all 61)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 seizures 32 HP:0001250
3 malar flattening 32 HP:0000272
4 hypertelorism 32 HP:0000316
5 low-set ears 32 HP:0000369
6 short neck 32 HP:0000470
7 obesity 32 HP:0001513
8 clinodactyly 32 HP:0030084
9 hypertension 32 HP:0000822
10 intellectual disability 32 HP:0001249
11 respiratory insufficiency 32 HP:0002093
12 mandibular prognathia 32 HP:0000303
13 hearing impairment 32 HP:0000365
14 thickened calvaria 32 HP:0002684
15 microtia 32 HP:0008551
16 microcephaly 32 HP:0000252
17 thick eyebrow 32 HP:0000574
18 short stature 32 HP:0004322
19 broad ribs 32 HP:0000885
20 strabismus 32 HP:0000486
21 platyspondyly 32 HP:0000926
22 patent ductus arteriosus 32 HP:0001643
23 cone-shaped epiphysis 32 HP:0010579
24 short long bone 32 HP:0003026
25 limitation of joint mobility 32 HP:0001376
26 cryptorchidism 32 HP:0000028
27 autism 32 HP:0000717
28 coarctation of aorta 32 HP:0001680
29 short toe 32 HP:0001831
30 prominent nasal bridge 32 HP:0000426
31 short philtrum 32 HP:0000322
32 microphthalmia 32 HP:0000568
33 intrauterine growth retardation 32 HP:0001511
34 hypoplastic iliac wing 32 HP:0002866
35 deeply set eye 32 HP:0000490
36 hypoplasia of the maxilla 32 HP:0000327
37 respiratory failure 32 HP:0002878
38 abnormality of the voice 32 HP:0001608
39 narrow mouth 32 HP:0000160
40 brachydactyly syndrome 32 HP:0001156
41 thin upper lip vermilion 32 HP:0000219
42 fine hair 32 HP:0002213
43 thickened skin 32 HP:0001072
44 blepharophimosis 32 HP:0000581
45 abnormality of the cardiac septa 32 HP:0001671
46 midface retrusion 32 HP:0011800
47 vertebral fusion 32 HP:0002948
48 short finger 32 HP:0009381
49 sparse hair 32 HP:0008070
50 oral cleft 32 HP:0000202

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

Search Clinical Trials , NIH Clinical Center for Myhre Syndrome

Genetic Tests for Myhre Syndrome

Genetic tests related to Myhre Syndrome:

id Genetic test Affiliating Genes
1 Myhre Syndrome 29 24 SMAD4
2 Laryngotracheal Stenosis 29

Anatomical Context for Myhre Syndrome

MalaCards organs/tissues related to Myhre Syndrome:

39
Heart, Skin, Bone, Eye

Publications for Myhre Syndrome

Articles related to Myhre Syndrome:

(show all 31)
id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 SMAD4 p.Ile500Met VAR_067602 rs281875320
2 SMAD4 p.Ile500Thr VAR_067603 rs281875321
3 SMAD4 p.Ile500Val VAR_067604 rs281875322

ClinVar genetic disease variations for Myhre Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SMAD4 NM_005359.5(SMAD4): c.1499T> C (p.Ile500Thr) single nucleotide variant Pathogenic rs281875321 GRCh37 Chromosome 18, 48604677: 48604677
2 SMAD4 NM_005359.5(SMAD4): c.1498A> G (p.Ile500Val) single nucleotide variant Pathogenic rs281875322 GRCh37 Chromosome 18, 48604676: 48604676
3 SMAD4 NM_005359.5(SMAD4): c.1500A> G (p.Ile500Met) single nucleotide variant Pathogenic rs281875320 GRCh37 Chromosome 18, 48604678: 48604678
4 SMAD4 NM_005359.5(SMAD4): c.1486C> T (p.Arg496Cys) single nucleotide variant Pathogenic rs397518413 GRCh37 Chromosome 18, 48604664: 48604664

Expression for Myhre Syndrome

Search GEO for disease gene expression data for Myhre Syndrome.

Pathways for Myhre Syndrome

GO Terms for Myhre Syndrome

Sources for Myhre Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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