Neonatal adrenoleukodystrophy

General Information (adopted from Orphanet):

Synonyms, Signs: NALD
Number of Symptoms 41
OrphanetNr: 44
OMIM Id: 202370
266510
601539
614863
614867
614871
614873
614877
614885
614920
ICD-10: E71.3
UMLs: C0282525
MeSH: D018901
MedDRA:
Snomed: 238061001

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic chronic primary adrenal insufficiency
 -Rare endocrine disease
 -Rare genetic disease
Metabolic disease with pigmentary retinitis
 -Rare eye disease
 -Rare genetic disease
Peroxisomal disease with epilepsy
 -Rare neurologic disease
Peroxisome biogenesis disorder-Zellweger syndrome spectrum
 -Rare genetic disease
 -Rare hepatic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000286) Epicanthus 371 / 7739
2
 (HPO:0001999) Abnormal facial shape 169 / 7739
3
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
4
 (HPO:0000239) Large fontanelles Frequent [Orphanet] 135 / 7739
5
 (HPO:0000218) High palate 356 / 7739
6
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
7
 (HPO:0000268) Dolichocephaly Very frequent [Orphanet] 144 / 7739
8
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
9
 (HPO:0002007) Frontal bossing 366 / 7739
10
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
11
 (HPO:0000431) Wide nasal bridge 290 / 7739
12
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
13
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
14
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
15
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
16
 (HPO:0010696) Polar cataract 1 / 7739
17
 (HPO:0000510) Rod-cone dystrophy Frequent [Orphanet] 266 / 7739
18
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
19
 (HPO:0000565) Esotropia 58 / 7739
20
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
21
 (HPO:0000369) Low-set ears 372 / 7739
22
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
23
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
24
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
25
 (HPO:0001347) Hyperreflexia Very frequent [Orphanet] 363 / 7739
26
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
27
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
28
 (HPO:0001249) Intellectual disability 1089 / 7739
29
 (HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
30
 (HPO:0000846) Adrenal insufficiency 24 / 7739
31
 (HPO:0008207) Primary adrenal insufficiency Very frequent [Orphanet] 26 / 7739
32
 (HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
33
 (HPO:0001080) Biliary tract abnormality Very frequent [Orphanet] 26 / 7739
34
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
35
 (HPO:0001939) Abnormality of metabolism/homeostasis Very frequent [Orphanet] 328 / 7739
36
 (HPO:0003455) Elevated long chain fatty acids 8 / 7739
37
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
38
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
39
 (HPO:0002536) Abnormal cortical gyration Frequent [Orphanet] 72 / 7739
40
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
41
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: