MCID: MYH012
MIFTS: 39

Myhre Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Mental diseases categories
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Summaries for Myhre Syndrome

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NIH Rare Diseases:42 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

MalaCards based summary: Myhre Syndrome, also known as laps syndrome, is related to ruvalcaba churesigaew myhre syndrome and van allen myhre syndrome, and has symptoms including dense/thickened skull/calvarium/cranial/facial hyperostosis, mid-facial hypoplasia/short/small midface and hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia. An important gene associated with Myhre Syndrome is SMAD4 (SMAD family member 4). Affiliated tissues include bone, heart and skin.

Genetics Home Reference:21 Myhre syndrome is a condition with features affecting many systems and functions of the body.

Wikipedia:65 Myhre syndrome is a rare genetic disorder. more...

Description from OMIM:46 139210

Aliases & Classifications for Myhre Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 62UMLS, 63UMLS via Orphanet, 26ICD10 via Orphanet
See all sources

Myhre Syndrome, Aliases & Descriptions:

Name: Myhre Syndrome 42 20 22 21 46 48
Laps Syndrome 42 21 62
Laryngotracheal Stenosis, Arthropathy, Prognathism, and Short Stature 42 21
Growth Mental Deficiency Syndrome of Myhre 42 62
 
Facial Dysmorphism - Intellectual Disability - Short Stature - Hearing Loss 48
Facial Dysmorphism - Intellectual Deficit - Short Stature - Hearing Loss 42
Facial Dysmorphism-Intellectual Deficit-Short Stature-Hearing Loss 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
myhre syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


External Ids:

UMLS via Orphanet63 C0796081
OMIM46 139210
ICD10 via Orphanet26 Q87.8

Related Diseases for Myhre Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1ruvalcaba churesigaew myhre syndrome10.5
2van allen myhre syndrome10.5
3bannayan-riley-ruvalcaba syndrome10.1
4pericarditis10.1
5retinitis10.1
6geleophysic dysplasia10.1
7leri pleonosteosis10.1
8ataxia10.1

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

Symptoms:

48 (show all 35)
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • mid-facial hypoplasia/short/small midface
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • prognathism/prognathia
  • microstomia/little mouth
  • thin/retracted lips
  • short philtrum
  • hearing loss/hypoacusia/deafness
  • anomalies of the ribs
  • platyspondyly
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • short hand/brachydactyly
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • muscle hypertrophy
  • restricted joint mobility/joint stiffness/ankylosis
  • short stature/dwarfism/nanism
  • intrauterine growth retardation
  • hypermetropia
  • ptosis
  • blepharophimosis/short palpebral fissures
  • thick skin/pachydermia/orange skin
  • cardiac septal defect
  • chronic arterial hypertension
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • abnormal emg/electromyogram/electropmyography
  • metaphyseal anomaly
  • epiphyseal anomaly
  • cataract/lens opacification
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • inguinal/inguinoscrotal/crural hernia
  • hypospadias/epispadias/bent penis
  • precocious puberty
  • late puberty/hypogonadism/hypogenitalism
  • psychic/behavioural troubles

HPO human phenotypes related to Myhre Syndrome:

(show all 94)
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 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 abnormality of the epiphyses typical (50%) HP:0005930
27 cleft palate occasional (7.5%) HP:0000175
28 cataract occasional (7.5%) HP:0000518
29 behavioral abnormality occasional (7.5%) HP:0000708
30 precocious puberty occasional (7.5%) HP:0000826
31 hernia of the abdominal wall occasional (7.5%) HP:0004299
32 non-midline cleft lip occasional (7.5%) HP:0100335
33 displacement of the external urethral meatus occasional (7.5%) HP:0100627
34 oral cleft rare (5%) HP:0000202
35 microphthalmos rare (5%) HP:0000568
36 ataxia rare (5%) HP:0001251
37 obesity rare (5%) HP:0001513
38 respiratory insufficiency rare (5%) HP:0002093
39 respiratory failure rare (5%) HP:0002878
40 autosomal dominant inheritance HP:0000006
41 cryptorchidism HP:0000028
42 narrow mouth HP:0000160
43 thin upper lip vermilion HP:0000219
44 microcephaly HP:0000252
45 malar flattening HP:0000272
46 mandibular prognathia HP:0000303
47 hypertelorism HP:0000316
48 short philtrum HP:0000322
49 hypoplasia of the maxilla HP:0000327
50 hearing impairment HP:0000365
51 low-set ears HP:0000369
52 prominent nasal bridge HP:0000426
53 short neck HP:0000470
54 strabismus HP:0000486
55 deeply set eye HP:0000490
56 hypermetropia HP:0000540
57 thick eyebrow HP:0000574
58 blepharophimosis HP:0000581
59 autism HP:0000717
60 hypertension HP:0000822
61 broad ribs HP:0000885
62 platyspondyly HP:0000926
63 thickened skin HP:0001072
64 intellectual disability HP:0001249
65 seizures HP:0001250
66 limitation of joint mobility HP:0001376
67 intrauterine growth retardation HP:0001511
68 abnormality of the voice HP:0001608
69 patent ductus arteriosus HP:0001643
70 aortic valve stenosis HP:0001650
71 abnormality of the cardiac septa HP:0001671
72 coarctation of aorta HP:0001680
73 pericardial effusion HP:0001698
74 short toe HP:0001831
75 overlapping toe HP:0001845
76 fine hair HP:0002213
77 thickened calvaria HP:0002684
78 hypoplastic iliac wings HP:0002866
79 vertebral fusion HP:0002948
80 short long bones HP:0003026
81 generalized muscle hypertrophy HP:0003720
82 short stature HP:0004322
83 enlarged vertebral pedicles HP:0004621
84 2-3 toe syndactyly HP:0004691
85 laryngotracheal stenosis HP:0004894
86 sparse hair HP:0008070
87 microtia HP:0008551
88 short finger HP:0009381
89 radial deviation of finger HP:0009466
90 cone-shaped epiphysis HP:0010579
91 midface retrusion HP:0011800
92 camptodactyly HP:0012385
93 stiff skin HP:0030053
94 clinodactyly HP:0030084

Drugs & Therapeutics for Myhre Syndrome

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Drug clinical trials:

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Search 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 Syndrome20 22 SMAD4

Anatomical Context for Myhre Syndrome

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MalaCards organs/tissues related to Myhre Syndrome:

32
Bone, Heart, Skin, Testes

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

64
id Symbol AA change Variation ID SNP ID
1SMAD4p.Ile500MetVAR_067602rs281875320
2SMAD4p.Ile500ThrVAR_067603rs281875321
3SMAD4p.Ile500ValVAR_067604rs281875322

Clinvar genetic disease variations for Myhre Syndrome:

6
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Myhre Syndrome

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Pathways for genes affiliated with Myhre Syndrome

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Compounds for genes affiliated with Myhre Syndrome

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GO Terms for genes affiliated with Myhre Syndrome

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Products for genes affiliated with Myhre Syndrome

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Sources for Myhre Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet