Cytoscape Web
Click node...

Neonatal adrenoleukodystrophy
10 OMIM references -
13 associated genes
109 connected diseases
30 signs/symptoms
Disease Type of connection
Infantile Refsum disease
Zellweger syndrome
Autosomal recessive ataxia due to PEX10 deficiency
Refsum disease
Rhizomelic chondrodysplasia punctata type 1
Bifunctional enzyme deficiency
Amyotrophic lateral sclerosis
Adrenomyeloneuropathy
CADDS
Primary Fanconi syndrome
X-linked cerebral adrenoleukodystrophy
Giant cell glioblastoma
Gliosarcoma
Perrault syndrome
Rhizomelic chondrodysplasia punctata type 2
B-cell chronic lymphocytic leukemia
Familial pancreatic carcinoma
Peroxisomal acyl-CoA oxidase deficiency
Rhizomelic chondrodysplasia punctata type 3
Congenital fibrosis of extraocular muscles
Leukoencephalopathy - dystonia - motor neuropathy
Acatalasemia
Acute inflammatory demyelinating polyradiculoneuropathy
Charcot-Marie-Tooth disease type 1A
Charcot-Marie-Tooth disease type 1E
Dejerine-Sottas syndrome
Hereditary neuropathy with liability to pressure palsies
Roussy-Lévy syndrome
Desmoplastic / nodular medulloblastoma
Familial multiple meningioma
Medulloblastoma with extensive nodularity
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Ataxia-telangiectasia
Ataxia-telangiectasia variant
Combined cervical dystonia
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Mantle cell lymphoma
Adult-onset distal myopathy due to VCP mutation
Behavioral variant of frontotemporal dementia
Dyskeratosis congenita
Familial isolated hyperparathyroidism
Familial melanoma
Familial parathyroid adenoma
Familial prostate cancer
Fanconi anemia
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Hoyeraal-Hreidarsson syndrome
Huntington disease
Hyperparathyroidism - jaw tumor syndrome
Idiopathic central precocious puberty
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Juvenile Huntington disease
LIG4 syndrome
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Omenn syndrome
Parathyroid carcinoma
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Primary peritoneal carcinoma
Progressive non-fluent aphasia
Retinopathy - anemia- central nervous system anomalies
Semantic dementia
Spastic paraplegia - Paget disease of bone
Primary hyperoxaluria type 1
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant centronuclear myopathy
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Autosomal dominant nonsyndromic intellectual deficit
Cardiofaciocutaneous syndrome
Congenital lactic acidosis, Saguenay-Lac-St. Jean type
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Distal hereditary motor neuropathy type 7
Early-onset autosomal dominant Alzheimer disease
Fetal akinesia-cerebral and retinal hemorrhage syndrome
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
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Hypomyelination with atrophy of basal ganglia and cerebellum
Intellectual deficit, X-linked, Nascimento type
Jeune syndrome
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
Lissencephaly due to TUBA1A mutation
Microcephaly - lymphedema - chorioretinopathy
Perry syndrome
Polymicrogyria due to TUBB2B mutation
Primary dystonia, DYT4 type
Short rib-polydactyly syndrome, Majewski type
Short rib-polydactyly syndrome, Verma-Naumoff type
3-hydroxy-3-methylglutaric aciduria
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Congenital bile acid synthesis defect type 4
Distal hereditary motor neuropathy type 2
Enchondromatosis
Familial hypercholanemia
Maffucci syndrome
Malonic aciduria
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Navajo neurohepatopathy
Synonym(s):
- NALD
Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare hepatic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive
External references:
10 OMIM references -
1 MeSH reference: D018901
Very frequent
- Anteverted nares / nostrils
- Autosomal recessive inheritance
- Broad nose / nasal bridge
- Cortico-adrenal hypoplasia / insufficiency
- Dolichocephaly / scaphocephaly
- EEG anomalies
- High forehead
- High vaulted / narrow palate
- Hypereflexia
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Metabolic anomalies
- Movement disorder
- Nystagmus
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Psychic / psychomotor regression / dementia / intellectual decline
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss
- Short stature / dwarfism / nanism
- Strabismus / squint
- Structural anomalies of the liver and the biliary tract

Frequent
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Cataract / lens opacification
- Large fontanelle / delayed fontanelle closure
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Ptosis
- Retinitis pigmentosa / retinal pigmentary changes
- Simian crease / transverse / unique palmar crease
- Visual loss / blindness / amblyopia