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Myhre syndrome
1 OMIM reference -
1 associated gene
138 connected diseases
35 signs/symptoms
Disease Type of connection
Familial pancreatic carcinoma
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Familial thoracic aortic aneurysm and aortic dissection
Myelodysplastic syndromes
Heritable pulmonary arterial hypertension
Familial isolated dilated cardiomyopathy
Loeys-Dietz syndrome type 1
Leber hereditary optic neuropathy
MELAS syndrome
Maternally-inherited Leigh syndrome
Juvenile myelomonocytic leukemia
Noonan syndrome
1p36 deletion syndrome
Aneurysm - osteoarthritis syndrome
Shprintzen-Goldberg syndrome
Cowden syndrome
Proteus syndrome
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Papillary or follicular thyroid carcinoma
Partial androgen insensitivity syndrome
Split hand-split foot malformation
Acute myeloid leukemia
Deafness - lymphedema - leukemia
Monocytopenia with susceptibility to infections
Alveolar soft-part sarcoma
Hereditary pheochromocytoma-paraganglioma
Translocation renal cell carcinoma
Joubert syndrome with oculorenal defect
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Multiple keratoacanthoma, Ferguson-Smith type
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Estrogen resistance syndrome
Inherited acute myeloid leukemia
Alveolar rhabdomyosarcoma
Familial drusen
Autosomal dominant nonsyndromic intellectual deficit
Desmoid tumor
Desmoplastic small round cell tumor
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Fibronectin glomerulopathy
Hepatocellular carcinoma, childhood-onset
Melanoma of soft part
Primary CD59 deficiency
Synpolydactyly type 2
Young adult-onset distal hereditary motor neuropathy
17q11 microdeletion syndrome
17q11.2 microduplication syndrome
Cerebellar ataxia - hypogonadism
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Reducing body myopathy
Spondylo-megaepiphyseal-metaphyseal dysplasia
Watson syndrome
X-linked Emery-Dreifuss muscular dystrophy
X-linked myopathy with postural muscle atrophy
Alpha-1-antitrypsin deficiency
Anaplastic ependymoma
Aniridia - cerebellar ataxia - intellectual deficit
Atrial septal defect - atrioventricular conduction defects
Atrial septal defect, ostium secundum type
Autosomal dominant keratitis
Colobomatous microphthalmia
Familial advanced sleep-phase syndrome
Familial atrial fibrillation
Familial isolated congenital asplenia
Familial progressive cardiac conduction defect
Fatal infantile hypertonic myofibrillar myopathy
Foveal hypoplasia - presenile cataract
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Hypoplastic left heart syndrome
Isolated aniridia
Isolated optic nerve hypoplasia
Leber 'plus' disease
Ligneous conjunctivitis
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Morning glory syndrome
Peters anomaly
Posterior polar cataract
Richieri Costa-Pereira syndrome
Single ventricular septal defect
Tetralogy of Fallot
Thyroid hypoplasia
WAGR syndrome
Zonular cataract
Hyperinsulinism due to HNF4A deficiency
MODY syndrome
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Distal 22q11.2 microdeletion syndrome
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
14q11.2 microduplication syndrome
14q12 microdeletion syndrome
Acrocallosal syndrome
Amyotrophic lateral sclerosis
Atypical Rett syndrome
Autoimmune lymphoproliferative syndrome
Autosomal recessive lymphoproliferative disease
Berardinelli-Seip congenital lipodystrophy
Congenital intrauterine infection-like syndrome
Diffuse cutaneous systemic sclerosis
Familial prostate cancer
Greig cephalopolysyndactyly syndrome
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary nonpolyposis colon cancer
Hereditary site-specific ovarian cancer syndrome
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Large congenital melanocytic nevus
Limited cutaneous systemic sclerosis
Marfan syndrome type 2
Neutrophil immunodeficiency syndrome
Pallister-Hall syndrome
Polysyndactyly, bilateral
Polysyndactyly, unilateral
Postaxial polydactyly type A, bilateral
Postaxial polydactyly type A, unilateral
Postaxial polydactyly type B, bilateral
Postaxial polydactyly type B, unilateral
Primary peritoneal carcinoma
Pulmonary capillary hemangiomatosis
Pulmonary venoocclusive disease
- Facial dysmorphism - intellectual deficit - short stature - hearing loss

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
SMAD4 Q13485600993
Very frequent
- Anomalies of the ribs
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Hearing loss / hypoacusia / deafness
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Microstomia / little mouth
- Mid-facial hypoplasia / short / small midface
- Muscle hypertrophy
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Platyspondyly
- Prognathism / prognathia
- Restricted joint mobility / joint stiffness / ankylosis
- Short hand / brachydactyly
- Short philtrum
- Short stature / dwarfism / nanism
- Thin / retracted lips

- Abnormal EMG / electromyogram / electropmyography
- Blepharophimosis / short palpebral fissures
- Cardiac septal defect
- Chronic arterial hypertension
- Epiphyseal anomaly
- Hypermetropia
- Metaphyseal anomaly
- Ptosis
- Thick skin / pachydermia / orange skin
- Undescended / ectopic testes / cryptorchidia / unfixed testes

- Cataract / lens opacification
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Hypospadias / epispadias / bent penis
- Inguinal / inguinoscrotal / crural hernia
- Late puberty / hypogonadism / hypogenitalism
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Precocious puberty
- Psychic / behavioural troubles