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Constitutional mismatch repair deficiency syndrome
1 OMIM reference -
4 associated genes
141 connected diseases
No signs/symptoms info
Disease Type of connection
Hereditary nonpolyposis colon cancer
Non-polyposis Turcot syndrome
Muir-Torre syndrome
Hereditary breast and ovarian cancer syndrome
Fanconi anemia
Familial prostate cancer
Familial pancreatic carcinoma
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
B-cell chronic lymphocytic leukemia
Primary peritoneal carcinoma
Burkitt lymphoma
Precursor T-cell acute lymphoblastic leukemia
Cornelia de Lange syndrome
Bloom syndrome
Seckel syndrome
Li-Fraumeni syndrome
Severe combined immunodeficiency due to DNA-PKcs deficiency
Giant cell glioblastoma
Ataxia-telangiectasia variant
Ataxia-telangiectasia-like disorder
Combined cervical dystonia
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Mantle cell lymphoma
Nijmegen breakage syndrome
Nijmegen breakage syndrome-like disorder
Severe X-linked mitochondrial encephalomyopathy
X-linked Charcot-Marie-Tooth disease type 4
Late-onset autosomal recessive medullary cystic kidney disease
Estrogen resistance syndrome
Familial gastric cancer
MUTYH-related attenuated familial adenomatous polyposis
Adrenocortical carcinoma
Essential thrombocythemia
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Amyotrophic lateral sclerosis
Autoimmune polyendocrinopathy type 1
Familial congenital mirror movements
Isolated adermatoglyphia
Aicardi-Goutières syndrome
Chilblain lupus
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Hereditary pheochromocytoma-paraganglioma
Autosomal dominant limb-girdle muscular dystrophy type 1E
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Baraitser-Winter syndrome
Familial isolated dilated cardiomyopathy
Scapuloperoneal amyotrophy
Xeroderma pigmentosum variant
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Autosomal recessive nonsyndromic intellectual deficit
Coffin-Siris syndrome
Dubowitz syndrome
Familial cylindromatosis
Familial multiple trichoepithelioma
Familial rhabdoid tumor
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Isolated ATP synthase deficiency
Spinocerebellar ataxia type 12
Williams syndrome
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Ear-patella-short stature syndrome
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Acute neonatal citrullinemia type I
Adenine phosphoribosyltransferase deficiency
Adult-onset citrullinemia type I
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Autosomal dominant hyper-IgE syndrome
Autosomal dominant neovascular inflammatory vitreoretinopathy
Boomerang dysplasia
COFS syndrome
Charcot-Marie-Tooth disease type 4D
Chronic granulomatous disease
Cockayne syndrome type 1
Cockayne syndrome type 2
Craniolenticulosutural dysplasia
Distal myopathy with posterior leg and anterior hand involvement
Familial visceral myopathy
Glycogen storage disease due to aldolase A deficiency
Infantile cerebellar-retinal degeneration
Isolated NADH-CoQ reductase deficiency
Leigh syndrome with leukodystrophy
Lethal acantholytic epidermolysis bullosa
Multiple endocrine neoplasia type 1
Muscle filaminopathy
Naxos disease
Osteogenesis imperfecta type 3
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Pseudohypoaldosteronism type 2E
Recurrent infections associated with rare immunoglobulin isotypes deficiency
Spinocerebellar ataxia type 26
Spondylocarpotarsal synostosis
Translocation renal cell carcinoma
Xeroderma pigmentosum complementation group F
Young adult-onset Parkinsonism
Cerebroretinal vasculopathy
HERNS syndrome
Hereditary vascular retinopathy
Xeroderma pigmentosum complementation group A
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Blackfan-Diamond anemia
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Extraskeletal Ewing sarcoma
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Neuralgic amyotrophy
Progeria-associated arthropathy
- CMMR-D syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease

Classification (ICD10):
(no data available)

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

Gene symbol UniProt reference OMIM reference
MLH1 P40692120436
MSH2 P43246609309
MSH6 P52701600678
PMS2 P54278600259
No signs/symptoms info available.