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Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
1 OMIM reference -
1 associated gene
212 connected diseases
No signs/symptoms info
Disease Type of connection
Juvenile myelomonocytic leukemia
Precursor B-cell acute lymphoblastic leukemia
Epidermolytic palmoplantar keratoderma
Pachyonychia congenita
Precursor T-cell acute lymphoblastic leukemia
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Distal 22q11.2 microdeletion syndrome
Chronic myeloid leukemia
Autosomal agammaglobulinemia
Familial medullary thyroid carcinoma
Papillary or follicular thyroid carcinoma
Hepatocellular carcinoma, childhood-onset
Gastrointestinal stromal tumor
Idiopathic hypereosinophilic syndrome
Cowden syndrome
Noonan syndrome
Acute myeloblastic leukemia with maturation
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Infantile myofibromatosis
Annular epidermolytic ichthyosis
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
Epidermolytic ichthyosis
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Localized epidermolysis bullosa simplex
Squamous cell carcinoma of head and neck
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Severe combined immunodeficiency due to LCK deficiency
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Combined immunodeficiency due to ZAP70 deficiency
Familial papillary renal cell carcinoma
Giant cell glioblastoma
SHORT syndrome
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
Familial capillary hemangioma
Bilateral renal agenesis
Bilateral renal dysplasia
Haddad syndrome
Hirschsprung disease
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Unilateral renal dysplasia
CLOVE syndrome
Hereditary nonpolyposis colon cancer
Macrodactyly of fingers, unilateral
Megalencephaly-capillary malformation-polymicrogyria syndrome
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
LEOPARD syndrome
MODY syndrome
Syndromic multisystem autoimmune disease due to Itch deficiency
17p13.3 microduplication syndrome
Distal 17p13.3 microdeletion syndrome
Miller-Dieker syndrome
Kallmann syndrome
Myeloid neoplasm associated with PDGFRA rearrangement
Normosmic congenital hypogonadotropic hypogonadism
Testicular non seminomatous germ cell tumor
Testicular seminomatous germ cell tumor
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Growth delay due to insulin-like growth factor I resistance
Autosomal recessive lymphoproliferative disease
Posterior polar cataract
Total congenital cataract
Aleukemic mast cell leukemia
Bilateral striopallidodentate calcinosis
Bullous diffuse cutaneous mastocytosis
Chronic myelomonocytic leukemia
Classic mast cell leukemia
Cutaneous mastocytoma
Isolated bone marrow mastocytosis
Lymphoadenopathic mastocytosis with eosinophilia
Myeloid neoplasm associated with PDGFRB rearrangement
Nodular urticaria pigmentosa
Plaque-form urticaria pigmentosa
Primary familial polycythemia
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
Unclassified chronic myeloproliferative disease
X-linked distal arthrogryposis multiplex congenita
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
Giant cell arteritis
Granulomatosis with polyangiitis
Pediatric systemic lupus erythematosus
Baraitser-Winter syndrome
Congenital bilateral absence of vas deferens
Cystic fibrosis
Developmental malformations - deafness - dystonia
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Male infertility with normal virilization due to meiosis defect
Hereditary sensory and autonomic neuropathy type 4
Hereditary sensory and autonomic neuropathy type 5
Hereditary spherocytosis
Acute biphenotypic leukemia
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Minimally differentiated acute myeloblastic leukemia
T-B+ severe combined immunodeficiency due to CD45 deficiency
Autosomal dominant nonsyndromic intellectual deficit
Desmoid tumor
Hyper-IgM syndrome type 3
Anauxetic dysplasia
Aneurysm - osteoarthritis syndrome
Antley-Bixler syndrome
Apert syndrome
Autosomal dominant macrothrombocytopenia
Autosomal recessive epidermolysis bullosa simplex
Bannayan-Riley-Ruvalcaba syndrome
Blackfan-Diamond anemia
Catecholaminergic polymorphic ventricular tachycardia
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Congenital reticular ichthyosiform erythroderma
Costello syndrome
Crouzon disease
Cutis gyrata - acanthosis nigricans - craniosynostosis
Dermatopathia pigmentosa reticularis
Dowling-Degos disease
Epidermolysis bullosa simplex with circinate migratory erythema
FGFR2-related bent bone dysplasia
Familial scaphocephaly syndrome, McGillivray type
Familial thoracic aortic aneurysm and aortic dissection
Familial visceral myopathy
Fetal Gaucher disease
Gaucher disease - ophthalmoplegia - cardiovascular calcification
Gaucher disease type 1
Gaucher disease type 2
Gaucher disease type 3
Hereditary breast and ovarian cancer syndrome
Hereditary gingival fibromatosis
Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia
Ichthyosis hystrix of Curth-Macklin
Intermediate nemaline myopathy
Intermittent hydrarthrosis
Jackson-Weiss syndrome
Juvenile polyposis of infancy
Keratosis palmoplantaris striata
Lacrimo-auriculo-dento-digital syndrome
Lhermitte-Duclos disease
Linear nevus sebaceus syndrome
Lissencephaly due to TUBA1A mutation
Macrocephaly-autism syndrome
Meesmann corneal dystrophy
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Mucocutaneous venous malformations
Naegeli-Franceschetti-Jadassohn syndrome
Omenn syndrome
Pfeiffer syndrome type 1
Pfeiffer syndrome type 2
Pfeiffer syndrome type 3
Phakomatosis pigmentokeratotica
Proteus syndrome
Proteus-like syndrome
Pulverulent cataract
Recessive X-linked ichthyosis
Saethre-Chotzen syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Severe congenital nemaline myopathy
Superficial epidermolytic ichthyosis
Syndromic X-linked ichthyosis
T-B+ severe combined immunodeficiency due to CD3delta / CD3epsilon / CD3zeta
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
TRAPS syndrome
Typical nemaline myopathy
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
X-linked thrombocytopenia with normal platelets
Young adult-onset Parkinsonism
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
Rabson-Mendenhall syndrome
Congenital intrinsic factor deficiency
Transcobalamin deficiency
Familial expansile osteolysis
Osteopetrosis - hypogammaglobulinemia
Williams syndrome
Acute promyelocytic leukemia
Atrial stand still
Autosomal dominant hypohidrotic ectodermal dysplasia
Brugada syndrome
Common variable immunodeficiency
Familial atrial fibrillation
Familial isolated dilated cardiomyopathy
Familial progressive cardiac conduction defect
Familial sick sinus syndrome
Idiopathic ventricular fibrillation, not Brugada type
Laron syndrome with immunodeficiency
Romano-Ward syndrome
Gräsbeck-Imerslund disease
- CBL syndrome
- Noonan syndrome-like disorder with JMML

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

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

Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
CBL P22681165360
No signs/symptoms info available.