Neuroectodermal melanolysosomal disease

General Information (adopted from Orphanet):

Synonyms, Signs: NEUROECTODERMAL MELANOLYSOSOMAL DISEASE
Elejalde disease
Number of Symptoms 34
OrphanetNr: 33445
OMIM Id: 256710
ICD-10:
UMLs: C1860157
MeSH: C536203
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 30 cases [Orphanet]
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic hyperpigmentation of the skin
 -Rare genetic disease
Hyperpigmentation of the skin
 -Rare skin disease
Malformation syndrome with skin/mucosae involvement
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Neurocutaneous syndrome with epilepsy
 -Rare genetic disease
 -Rare neurologic disease
Overgrowth syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Pigmentation disorder with eye involvement, excluding albinism
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
2
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
3
 (HPO:0000577) Exotropia 43 / 7739
4
 (HPO:0008059) Aplasia/Hypoplasia of the macula Occasional [Orphanet] 21 / 7739
5
 (HPO:0000545) Myopia Frequent [Orphanet] 286 / 7739
6
 (HPO:0001276) Hypertonia Occasional [Orphanet] 317 / 7739
7
 (HPO:0001251) Ataxia 413 / 7739
8
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
9
 (HPO:0001337) Tremor Frequent [Orphanet] 200 / 7739
10
 (HPO:0001263) Global developmental delay 853 / 7739
11
 (HPO:0001249) Intellectual disability 1089 / 7739
12
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
13
 (HPO:0001257) Spasticity 251 / 7739
14
 (HPO:0002066) Gait ataxia Occasional [Orphanet] 327 / 7739
15
 (HPO:0002216) Premature graying of hair Very frequent [Orphanet] 43 / 7739
16
 (HPO:0000953) Hyperpigmentation of the skin Occasional [Orphanet] 75 / 7739
17
 (HPO:0002220) Melanin pigment aggregation in hair shafts 4 / 7739
18
 (HPO:0001010) Hypopigmentation of the skin Very frequent [Orphanet] 46 / 7739
19
 (HPO:0005599) Hypopigmentation of hair Very frequent [Orphanet] 38 / 7739
20
 (HPO:0001008) Accumulation of melanosomes in melanocytes 4 / 7739
21
 (HPO:0002218) Silver-gray hair 6 / 7739
22
 (HPO:0002205) Recurrent respiratory infections Occasional [Orphanet] 254 / 7739
23
 (HPO:0010547) Muscle flaccidity 466 / 7739
24
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
25
 (HPO:0001324) Muscle weakness 859 / 7739
26
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
27
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
28
 (HPO:0003593) Infantile onset 249 / 7739
29
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
30
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
31
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
32
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
33
 (HPO:0003819) Death in childhood 42 / 7739
34
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Elejalde et al. (1977) described a novel pigment mutation in 2 males and 1 female, each from a consanguineous marriage in an inbred Colombian kindred. The condition was characterized by profound psychomotor retardation, seizures, hypotonia, voluntary movements, generalized ...
Molecular genetics OMIM Sanal et al. (2000) referred to neuroectodermal melanolysosomal disease as an allelic variant of Griscelli syndrome.

Anikster et al. (2002) suggested that families previously thought to have Griscelli syndrome due to mutations in the MYO5A gene ...