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Autosomal dominant hypohidrotic ectodermal dysplasia
2 OMIM references -
3 associated genes
196 connected diseases
18 signs/symptoms
Disease Type of connection
Autosomal recessive hypohidrotic ectodermal dysplasia
Oligodontia
Young adult-onset Parkinsonism
Familial isolated dilated cardiomyopathy
Herpetic encephalitis
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Early-onset autosomal dominant Alzheimer disease
Precursor T-cell acute lymphoblastic leukemia
Amyotrophic lateral sclerosis
Chronic mucocutaneous candidiasis
X-linked hypohidrotic ectodermal dysplasia
MALT lymphoma
Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome type 1
Common variable immunodeficiency
Papillary or follicular thyroid carcinoma
Familial atrial fibrillation
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Pilocytic astrocytoma
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
Hereditary nonpolyposis colon cancer
Behçet disease
Blackfan-Diamond anemia
Isolated cytochrome C oxidase deficiency
Chronic myeloid leukemia
Precursor B-cell acute lymphoblastic leukemia
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
Cardiofaciocutaneous syndrome
Juvenile myelomonocytic leukemia
Hyper-IgM syndrome type 3
Pediatric systemic lupus erythematosus
Familial expansile osteolysis
Osteopetrosis - hypogammaglobulinemia
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Adult-onset distal myopathy due to VCP mutation
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Spastic paraplegia - Paget disease of bone
X-linked lymphoproliferative disease
Acute fatty liver of pregnancy
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
MULIBREY nanism
Mitochondrial trifunctional protein deficiency
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Multiple keratoacanthoma, Ferguson-Smith type
Autoimmune lymphoproliferative syndrome with recurrent infections
Familial medullary thyroid carcinoma
Hereditary sensory and autonomic neuropathy type 4
Hereditary sensory and autonomic neuropathy type 5
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Cerebellar ataxia - hypogonadism
Familial short QT syndrome
Jervell and Lange-Nielsen syndrome
Romano-Ward syndrome
Cervical spina bifida aperta
Cervical spina bifida cystica
Cervicothoracic spina bifida aperta
Cervicothoracic spina bifida cystica
Lumbosacral spina bifida aperta
Lumbosacral spina bifida cystica
Pyogenic bacterial infections due to MyD88 deficiency
Thoracolumbosacral spina bifida aperta
Thoracolumbosacral spina bifida cystica
Total spina bifida aperta
Total spina bifida cystica
Upper thoracic spina bifida aperta
Upper thoracic spina bifida cystica
Waldenström macroglobulinemia
Cowden syndrome
Proteus syndrome
Acrokeratosis verruciformis of Hopf
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Baraitser-Winter syndrome
Brachydactyly type A2
Brachydactyly type C
Catecholaminergic polymorphic ventricular tachycardia
Congenital fibrosis of extraocular muscles
Darier disease
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Fanconi anemia
Hypomyelination with atrophy of basal ganglia and cerebellum
Isolated delta-storage pool disease
Jeune syndrome
Polymicrogyria due to TUBB2B mutation
Primary dystonia, DYT4 type
Short rib-polydactyly syndrome, Verma-Naumoff type
Familial cylindromatosis
Familial multiple trichoepithelioma
Marfan syndrome type 2
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Primary biliary cirrhosis
14q11.2 microduplication syndrome
14q12 microdeletion syndrome
46,XY disorder of sex development due to isolated 17, 20 lyase deficiency
AICA-ribosiduria
Acute basophilic leukemia
Acute infantile liver failure-multisystemic involvement syndrome
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Adenine phosphoribosyltransferase deficiency
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Atypical Rett syndrome
Auriculocondylar syndrome
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Autosomal dominant Charcot-Marie-Tooth disease type 2B
Autosomal dominant Charcot-Marie-Tooth disease type 2D
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant hyper-IgE syndrome
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
Autosomal dominant nonsyndromic intellectual deficit
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Autosomal thrombocytopenia with normal platelets
Bardet-Biedl syndrome
Blau syndrome
Budd-Chiari syndrome
Combined oxidative phosphorylation defect type 13
Combined oxidative phosphorylation defect type 4
Congenital lactic acidosis, Saguenay-Lac-St. Jean type
Costello syndrome
Distal hereditary motor neuropathy type 5
Dyskeratosis congenita
Estrogen resistance syndrome
Exercise-induced hyperinsulinism
FADD-related immunodeficiency
FASTKD2-related infantile mitochondrial encephalomyopathy
Familial pancreatic carcinoma
Familial prostate cancer
Familial thrombocytosis
Gyrate atrophy of choroid and retina
Huntington disease
Hyperinsulinism-hyperammonemia syndrome
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Isolated polycystic liver disease
Juvenile Huntington disease
Lesch-Nyhan syndrome
Linear nevus sebaceus syndrome
MELAS syndrome
Maternally-inherited Leigh syndrome
Metabolic myopathy due to lactate transporter defect
Mosaic variegated aneuploidy syndrome
Multiple acyl-CoA dehydrogenation deficiency, mild type
Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
Neuralgic amyotrophy
Noonan syndrome
Oculootodental syndrome
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Parkinsonian-pyramidal syndrome
Pentosuria
Persistent polyclonal B-cell lymphocytosis
Polycythemia vera
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Purine nucleoside phosphorylase deficiency
Reticular dysgenesis
Senior-Loken syndrome
Severe combined immunodeficiency due to CARD11 deficiency
Syndromic multisystem autoimmune disease due to Itch deficiency
Systemic-onset juvenile idiopathic arthritis
Transaldolase deficiency
Usher syndrome type 3
Williams syndrome
Ataxia-telangiectasia
Ataxia-telangiectasia variant
B-cell chronic lymphocytic leukemia
Combined cervical dystonia
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
Mantle cell lymphoma
Autosomal recessive malignant osteopetrosis
Berardinelli-Seip congenital lipodystrophy
Classical progressive supranuclear palsy
Heritable pulmonary arterial hypertension
Machado-Joseph disease type 1
Machado-Joseph disease type 2
Machado-Joseph disease type 3
Microcephaly-capillary malformation syndrome
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Progressive supranuclear palsy - corticobasal syndrome
Progressive supranuclear palsy - parkinsonism
Progressive supranuclear palsy - progressive non fluent aphasia
Progressive supranuclear palsy - pure akinesia with gait freezing
Synonym(s):
- AD-HED
- Autosomal dominant anhidrotic ectodermal dysplasia

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare skin disease

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
EDAR Q9UNE0604095
EDARADD Q8WWZ3606603
TRAF6 Q9Y4K3602355
Very frequent
- Anodontia / oligodontia / hypodontia
- Anomalies of teeth and dentition
- Autosomal dominant inheritance
- Decreased body hair / axillar / pubic hairlessness
- Dry / squaly skin / exfoliation
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Premature lost of decidious teeth
- Thin skin
- Tooth shape anomaly

Frequent
- Abnormal fingernails
- Alveolysis / paraodontitis

Occasional
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Eczema
- Flattened nose
- Frontal bossing / prominent forehead
- Malignant hyperthermia
- Thick lips