Cytoscape Web
Click node...


Autosomal dominant nonsyndromic sensorineural deafness type DFNA
48 OMIM references -
31 associated genes
272 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
KID syndrome
Baraitser-Winter syndrome
BOR syndrome
Branchio-otic syndrome
Usher syndrome type 1
Otospondylomegaepiphyseal dysplasia
Sensorineural deafness with dilated cardiomyopathy
Hidrotic ectodermal dysplasia
Hypotrichosis-deafness syndrome
Keratoderma hereditarium mutilans
Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Palmoplantar keratoderma-deafness syndrome
Porokeratotic eccrine ostial and dermal duct nevus
Erythrokeratodermia variabilis
Fibrochondrogenesis
Ménière disease
Neuropathy with hearing impairment
Nuclear cataract
Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
Stickler syndrome type 3
Transgrediens et progrediens palmoplantar keratoderma
Weissenbacher- Zweymuller syndrome
Wolfram syndrome
Giant cell glioblastoma
Gliosarcoma
Fibronectin glomerulopathy
Young adult-onset Parkinsonism
Familial isolated dilated cardiomyopathy
Hypohidrotic ectodermal dysplasia with immunodeficiency
Typical nemaline myopathy
Common variable immunodeficiency
Amyotrophic lateral sclerosis
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Incontinentia pigmenti
Intermittent hydrarthrosis
TRAPS syndrome
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Precursor T-cell acute lymphoblastic leukemia
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Estrogen resistance syndrome
46,XY partial gonadal dysgenesis
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Early-onset autosomal dominant Alzheimer disease
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Intermediate nemaline myopathy
Severe congenital nemaline myopathy
MALT lymphoma
Heritable pulmonary arterial hypertension
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Familial gastric cancer
Gastric linitis plastica
Developmental malformations - deafness - dystonia
Familial pancreatic carcinoma
Catecholaminergic polymorphic ventricular tachycardia
Primary hypomagnesemia with secondary hypocalcemia
Autosomal dominant hypohidrotic ectodermal dysplasia
Burkitt lymphoma
Desmoid tumor
Autosomal dominant nonsyndromic intellectual deficit
17q11 microdeletion syndrome
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Congenital bilateral absence of vas deferens
Cystic fibrosis
Distal myopathy with posterior leg and anterior hand involvement
Hereditary chronic pancreatitis
Hyperparathyroidism - jaw tumor syndrome
Idiopathic bronchiectasis
Male infertility with normal virilization due to meiosis defect
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Muscle filaminopathy
Parathyroid carcinoma
Achondrogenesis type 2
Autosomal dominant rhegmatogenous retinal detachment
Czech dysplasia, metatarsal type
Dysspondyloenchondromatosis
Familial avascular necrosis of femoral head
Hypochondrogenesis
Kniest dysplasia
Legg-Calvé-Perthes disease
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Multiple epiphyseal dysplasia, Beighton type
Platyspondylic dysplasia, Torrance type
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepiphyseal dysplasia congenita
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondyloperipheral dysplasia - short ulna
Stickler syndrome type 1
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
Chronic granulomatous disease
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Inflammatory myofibroblastic tumor
Otofaciocervical syndrome
X-linked lymphoproliferative disease
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
CADDS
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Constitutional mismatch repair deficiency syndrome
Familial melanoma
Hereditary nonpolyposis colon cancer
Juvenile myelomonocytic leukemia
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
Muir-Torre syndrome
Multiple endocrine neoplasia type 1
Non-polyposis Turcot syndrome
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Precursor B-cell acute lymphoblastic leukemia
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
Van der Woude syndrome
Zollinger-Ellison syndrome
Acrodysostosis
Acrodysostosis with multiple hormone resistance
Autoimmune lymphoproliferative syndrome
Autosomal recessive systemic lupus erythematosus
Carney complex
Familial atrial myxoma
Primary pigmented nodular adrenocortical disease
Familial cylindromatosis
Familial multiple trichoepithelioma
Charcot-Marie-Tooth disease type 4D
46,XY complete gonadal dysgenesis
Anaplastic ependymoma
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
Caffey disease
Craniopharyngioma
Dermatofibrosarcoma protuberans
Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 7A
Ehlers-Danlos syndrome, vascular-like type
Ehlers-Danlos / osteogenesis imperfecta syndrome
Familial porencephaly
Familial vascular leukoencephalopathy
Hepatocellular carcinoma, childhood-onset
High bone mass osteogenesis imperfecta
Leber congenital amaurosis
Marie Unna hereditary hypotrichosis
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Pilomatrixoma
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Schizencephaly
Senior-Loken syndrome
Walker-Warburg syndrome
WHIM syndrome
Adult-onset distal myopathy due to VCP mutation
Autosomal dominant spastic paraplegia type 13
Behavioral variant of frontotemporal dementia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Familial amyloidosis, Finnish type
Aniridia - cerebellar ataxia - intellectual deficit
Autosomal dominant keratitis
Extraskeletal Ewing sarcoma
Foveal hypoplasia - presenile cataract
Isolated aniridia
Isolated optic nerve hypoplasia
Morning glory syndrome
Peters anomaly
WAGR syndrome
Williams syndrome
Left ventricular noncompaction
1p36 deletion syndrome
APC-related attenuated familial adenomatous polyposis
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Angelman syndrome
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2T
Autosomal recessive nonsyndromic intellectual deficit
Boomerang dysplasia
Cerebellar ataxia - hypogonadism
Charcot-Marie-Tooth disease type 4G
Combined immunodeficiency due to STK4 deficiency
Congenital glaucoma
Congenital muscular dystrophy with cerebellar involvement
Congenital muscular dystrophy with intellectual disability
Familial adenomatous polyposis due to 5q22.2 microdeletion
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
Familial partial lipodystrophy due to AKT2 mutations
Familial prostate cancer
Frontotemporal dementia with motor neuron disease
Gardner syndrome
Glycogen storage disease due to liver phosphorylase kinase deficiency
Gray platelet syndrome
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Hyper-IgM syndrome type 2
Hyperlipidemia type 3
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Juvenile glaucoma
LIG4 syndrome
Lipoprotein glomerulopathy
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Muscle-eye-brain disease
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Omenn syndrome
Primary peritoneal carcinoma
Renal tubular dysgenesis of genetic origin
Richieri Costa-Pereira syndrome
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Sea-blue histiocytosis
Shprintzen-Goldberg syndrome
Spondylocarpotarsal synostosis
Translocation renal cell carcinoma
Turcot syndrome with polyposis
Weaver syndrome
West syndrome
X-linked Emery-Dreifuss muscular dystrophy
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked Charcot-Marie-Tooth disease type 1
X-linked progressive cerebellar ataxia
Usher syndrome type 2
Acute promyelocytic leukemia
Familial thoracic aortic aneurysm and aortic dissection
Moyamoya disease
Wiskott-Aldrich syndrome
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
X-linked non-syndromic intellectual deficit
Autosomal recessive centronuclear myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Benign familial infantile seizures
Benign familial neonatal seizures
Combined oxidative phosphorylation defect type 4
Congenital lethal myopathy, Compton-North type
Early-onset myopathy with fatal cardiomyopathy
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Hereditary proximal myopathy with early respiratory failure
Juvenile myoclonic epilepsy
Pseudohyperaldosteronism type 2
Renal pseudohypoaldosteronism type 1
Tibial muscular dystrophy
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Chronic intestinal pseudoobstruction
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Frontometaphyseal dysplasia
Hereditary sensory and autonomic neuropathy type 2
Isolated ATP synthase deficiency
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Pseudohypoaldosteronism type 2C
Terminal osseous dysplasia - pigmentary defects
Synonym(s):
- Autosomal dominant isolated neurosensory deafness type DFNA
- Autosomal dominant isolated neurosensory hearing loss type DFNA
- Autosomal dominant isolated sensorineural deafness type DFNA
- Autosomal dominant isolated sensorineural hearing loss type DFNA
- Autosomal dominant nonsyndromic neurosensory deafness type DFNA
- Autosomal dominant nonsyndromic neurosensory hearing loss type DFNA
- Autosomal dominant nonsyndromic sensorineural hearing loss type DFNA

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

Classification (ICD10):
- Diseases of the ear and mastoid process -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
48 OMIM references -
No MeSH references

No signs/symptoms info available.