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Noonan syndrome
8 OMIM references -
9 associated genes
258 connected diseases
57 signs/symptoms
Disease Type of connection
Juvenile myelomonocytic leukemia
Pilocytic astrocytoma
LEOPARD syndrome
Cardiofaciocutaneous syndrome
Costello syndrome
Linear nevus sebaceus syndrome
Hereditary nonpolyposis colon cancer
Familial pancreatic carcinoma
Craniopharyngioma
Autoimmune lymphoproliferative syndrome
Large congenital melanocytic nevus
Hairy cell leukemia
Hashimoto-Pritzker syndrome
Hereditary gingival fibromatosis
Metachondromatosis
17q11 microdeletion syndrome
17q11.2 microduplication syndrome
Blepharophimosis-intellectual deficit syndrome, SBBYS type
Genitopatellar syndrome
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Watson syndrome
Distal 22q11.2 microdeletion syndrome
Precursor T-cell acute lymphoblastic leukemia
Precursor B-cell acute lymphoblastic leukemia
Phakomatosis pigmentokeratotica
Cowden syndrome
Chronic myeloid leukemia
Follicular lymphoma
Intravascular large B-cell lymphoma
Noonan syndrome-like disorder with loose anagen hair
Idiopathic hypereosinophilic syndrome
Giant cell glioblastoma
Gliosarcoma
Essential thrombocythemia
Familial thrombocytosis
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Hepatocellular carcinoma, childhood-onset
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Autosomal dominant nonsyndromic intellectual deficit
Amyotrophic lateral sclerosis
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Severe combined immunodeficiency due to LCK deficiency
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Bilateral striopallidodentate calcinosis
Chronic myelomonocytic leukemia
Infantile myofibromatosis
Myeloid neoplasm associated with PDGFRB rearrangement
Unclassified chronic myeloproliferative disease
Budd-Chiari syndrome
Familial thoracic aortic aneurysm and aortic dissection
Familial medullary thyroid carcinoma
Papillary or follicular thyroid carcinoma
Autosomal agammaglobulinemia
SHORT syndrome
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Acute myeloblastic leukemia with maturation
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
17p13.3 microduplication syndrome
Distal 17p13.3 microdeletion syndrome
Familial papillary renal cell carcinoma
Miller-Dieker syndrome
Gastrointestinal stromal tumor
Proteus syndrome
Burkitt lymphoma
Catecholaminergic polymorphic ventricular tachycardia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Neurofibromatosis type 2
Neurofibromatosis type 3
Childhood-onset nemaline myopathy
Intermediate nemaline myopathy
Severe congenital nemaline myopathy
Typical nemaline myopathy
Acute promyelocytic leukemia
CLOVE syndrome
Hemimegalencephaly
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
Leprechaunism
Macrodactyly of fingers, unilateral
Megalencephaly-capillary malformation-polymicrogyria syndrome
Rabson-Mendenhall syndrome
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Hereditary spherocytosis
Intermittent hydrarthrosis
TRAPS syndrome
Adult-onset distal myopathy due to VCP mutation
Behavioral variant of frontotemporal dementia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Autosomal dominant spastic paraplegia type 13
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Kallmann syndrome
Lethal congenital contracture syndrome type 2
Normosmic congenital hypogonadotropic hypogonadism
Williams syndrome
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Myhre syndrome
Bilateral renal agenesis
Bilateral renal dysplasia
Haddad syndrome
Hirschsprung disease
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Unilateral renal dysplasia
Aneurysm - osteoarthritis syndrome
Common variable immunodeficiency
Aleukemic mast cell leukemia
Bullous diffuse cutaneous mastocytosis
Classic mast cell leukemia
Cutaneous mastocytoma
Familial retinoblastoma
Growth delay due to insulin-like growth factor I resistance
Isolated bone marrow mastocytosis
Lymphoadenopathic mastocytosis with eosinophilia
Monosomy 13q14
Nodular urticaria pigmentosa
Piebaldism
Plaque-form urticaria pigmentosa
Pseudoxanthomatous diffuse cutaneous mastocytosis
Smouldering systemic mastocytosis
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
Telangiectasia macularis eruptiva perstans
Typical urticaria pigmentosa
Unilateral retinoblastoma
Congenital pulmonary alveolar proteinosis
Obesity due to leptin receptor gene deficiency
X-linked lymphoproliferative disease
Laron syndrome
Short stature due to partial GHR deficiency
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Autosomal dominant hyper-IgE syndrome
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Glucocorticoid resistance
Cerebellar ataxia - hypogonadism
Laron syndrome with immunodeficiency
Posterior polar cataract
Total congenital cataract
MALT lymphoma
Primary familial polycythemia
Testicular non seminomatous germ cell tumor
Testicular seminomatous germ cell tumor
Acute biphenotypic leukemia
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Chuvash erythrocytosis
Desmoid tumor
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Leber congenital amaurosis
Minimally differentiated acute myeloblastic leukemia
PLCG2-associated antibody deficiency and immune dysregulation
Pilomatrixoma
Senior-Loken syndrome
Von Hippel-Lindau disease
Acatalasemia
Autosomal recessive centronuclear myopathy
Cleidocranial dysplasia
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Immunodeficiency by defective expression of HLA class 2
Mucocutaneous venous malformations
X-linked non-syndromic intellectual deficit
Atypical chronic myeloid leukemia
Bleeding diathesis due to thromboxane synthesis deficiency
Chronic neutrophilic leukemia
Hereditary neutrophilia
Myeloid neoplasm associated with PDGFRA rearrangement
WHIM syndrome
Autosomal dominant distal renal tubular acidosis
Autosomal dominant hypohidrotic ectodermal dysplasia
Autosomal dominant macrothrombocytopenia
Autosomal dominant secondary polycythemia
Carbamoylphosphate synthetase deficiency
Coffin-Siris syndrome
Dedifferentiated liposarcoma
Dentatorubral pallidoluysian atrophy
Distal renal tubular acidosis with anemia
Early infantile epileptic encephalopathy
Familial drusen
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Familial rhabdoid tumor
Fetal and neonatal alloimmune thrombocytopenia
Generalized pseudohypoaldosteronism type 1
Glanzmann thrombasthenia
Glycogen storage disease due to liver phosphorylase kinase deficiency
Herpetic encephalitis
Hyperparathyroidism - jaw tumor syndrome
Idiopathic bronchiectasis
Intellectual deficit, X-linked, Turner type
Isolated delta-storage pool disease
Jawad syndrome
Liddle syndrome
Parathyroid carcinoma
Rare isolated myopia
Retinitis pigmentosa
Seckel syndrome
Southeast Asian ovalocytosis
Spinocerebellar ataxia type 12
Spinocerebellar ataxia type 18
Split hand-split foot malformation
Succinyl-CoA:3-ketoacid CoA transferase deficiency
Well-differentiated liposarcoma
Steinert myotonic dystrophy
West syndrome
Chronic mucocutaneous candidiasis
Combined immunodeficiency due to ZAP70 deficiency
Granulomatosis with polyangiitis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Renal tubular dysgenesis of genetic origin
Stüve-Wiedemann syndrome
Susceptibility to viral and mycobacterial infections
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal recessive systemic lupus erythematosus
Congenital amegakaryocytic thrombocytopenia
Estrogen resistance syndrome
Familial capillary hemangioma
Fibrodysplasia ossificans progressiva
Hartsfield-Bixler-Demyer syndrome
Hereditary sensory and autonomic neuropathy type 4
Hereditary sensory and autonomic neuropathy type 5
Isolated trigonocephaly
Juvenile rheumatoid factor-negative polyarthritis
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Milroy disease
Myeloid neoplasm associated with FGFR1 rearrangement
Oligoarticular juvenile arthritis
Oligodontia
Osteoglophonic dwarfism
Pfeiffer syndrome type 1
Primary mediastinal large B-cell lymphoma
Septo-optic dysplasia
Aicardi-Goutières syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2C
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare cardiac disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare infertility
- Rare oncologic disease
- Rare renal disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
8 OMIM references -
1 MeSH reference: D009634
Very frequent
- Abnormally placed nipples
- Absent / hypotonic / flaccid abdominal wall muscles
- Anomalies of mouth, lip and philtrum
- Autosomal dominant inheritance
- Congenital cardiac anomaly / malformation / cardiopathy
- Cystic hygroma
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Excess nuchal skin without pterygium colli
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Helix / crux helix absent / abnormal / adherent / crux cymbae / posterior helix pits
- High forehead
- High vaulted / narrow palate
- Hyperextensible joints / articular hyperlaxity
- Hypertelorism
- Late puberty / hypogonadism / hypogenitalism
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Mid-facial hypoplasia / short / small midface
- Muscle weakness / flaccidity
- Pectus carinatum
- Pectus excavatum
- Proptosis / exophthalmos
- Ptosis
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Pulmonary valve atresia / stenosis / narrowing
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Thick lips
- Triangular face
- Webbed neck / pterygium colli
- Wide rib cage / thorax

Frequent
- Abnormal dermatoglyphics
- Anomalies of the lymphatic system
- Cardiac rhythm disorder / arrhythmia
- Clotting / hemostasis disorders
- Coarse / thick hair
- Delayed bone age
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hypotonia
- Low hair line (back)
- Platelets function anomaly
- Scoliosis
- Strabismus / squint
- Structural and functional anomalies of the spleen
- Structural anomalies of the genital system
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Clinodactyly of fifth finger
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Lymphedema
- Nystagmus
- Pigmented naevi / naevus pigmentosus / lentigo
- Radioulnar synostosis
- Sensorineural deafness / hearing loss
- Short hand / brachydactyly
- Structural anomalies of inner ear / cochlea / vestible / semicircular canals