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Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
1 associated gene
111 connected diseases
No signs/symptoms info
Disease Type of connection
Amyotrophic lateral sclerosis
Autosomal dominant nonsyndromic intellectual deficit
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Spondylocarpotarsal synostosis
2p21 microdeletion syndrome
17p13.3 microduplication syndrome
3-phosphoglycerate dehydrogenase deficiency
Adult-onset distal myopathy due to VCP mutation
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal dominant macrothrombocytopenia
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal dominant spastic paraplegia type 13
Autosomal recessive Emery-Dreifuss muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Behavioral variant of frontotemporal dementia
COFS syndrome
Charcot-Marie-Tooth disease type 2B1
Childhood-onset nemaline myopathy
Chronic intestinal pseudoobstruction
Chronic mucocutaneous candidiasis
Combined oxidative phosphorylation defect type 14
Congenital fiber-type disproportion myopathy
Congenital muscular dystrophy due to LMNA mutation
Congenital myopathy with excess of thin filaments
Congenital short bowel syndrome
Congenital valvular dysplasia
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Desmoid tumor
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Distal hereditary motor neuropathy type 2
Ehlers-Danlos syndrome with periventricular heterotopia
Ehlers-Danlos syndrome, kyphoscoliotic type
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial isolated dilated cardiomyopathy
Familial pancreatic carcinoma
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Frontometaphyseal dysplasia
Generalized juvenile polyposis / juvenile polyposis coli
Glycogen storage disease due to aldolase A deficiency
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Heart-hand syndrome, Slovenian type
Hemolytic anemia due to glucophosphate isomerase deficiency
Hemolytic anemia due to glutathione reductase deficiency
Hepatocellular carcinoma, childhood-onset
Hereditary North American Indian childhood cirrhosis
Hereditary hemorrhagic telangiectasia
Hutchinson-Gilford progeria syndrome
Inflammatory myofibroblastic tumor
Intermediate nemaline myopathy
Isolated ATP synthase deficiency
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Lissencephaly due to LIS1 mutation
Mandibuloacral dysplasia with type A lipodystrophy
Marshall-Smith syndrome
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Miller-Dieker syndrome
Muscular dystrophy, Selcen type
Myhre syndrome
Nager syndrome
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Periventricular nodular heterotopia
Progeria-associated arthropathy
Progressive non-fluent aphasia
Pulverulent cataract
Retinitis pigmentosa
Semantic dementia
Severe congenital nemaline myopathy
Sotos syndrome
Spastic paraplegia - Paget disease of bone
Spinocerebellar ataxia type 2
Spinocerebellar ataxia type 26
Subcortical band heterotopia
Susceptibility to viral and mycobacterial infections
Terminal osseous dysplasia - pigmentary defects
Translocation renal cell carcinoma
Triple A syndrome
Typical nemaline myopathy
X-linked osteoporosis with fractures
Xeroderma pigmentosum complementation group D
Xeroderma pigmentosum complementation group E
Young adult-onset Parkinsonism
X-linked distal arthrogryposis multiplex congenita
- MSMD due to complete ISG15 deficiency

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

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

Gene symbol UniProt reference OMIM reference
ISG15 P05161147571
No signs/symptoms info available.