Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandNeurocutaneous Syndromes (D020752)
Parent Node:
expandPigmentation Disorders (D010859)
..Starting node
..expandElejalde Disease (C536203)

       Child Nodes:



 Sister Nodes: 
..expandAcroleukopathy, Symmetric (C566322)
..expandAnonychia with Flexural Pigmentation (C566278)
..expandArgyria (D001129)
..expandBADS Syndrome (C562663)
..expandBasaran Yilmaz syndrome (C537660)
..expandBullous Dystrophy, Hereditary Macular Type (C563065)
..expandCafe-au-Lait Spots (D019080) Child4
..expandDyschromatosis symmetrica hereditaria 1 (C535729)
..expandDyschromatosis universalis hereditaria (C535730)
..expandDyschromatosis Universalis Hereditaria 1 (C567273)
..expandDyschromatosis Universalis Hereditaria 2 (C567194)
..expandElejalde Disease (C536203)
..expandFLOTCH syndrome (C537065)
..expandGraying of Hair, Precocious (C564209)
..expandGriscelli syndrome type 1 (C537301)
..expandGriscelli syndrome type 3 (C537303)
..expandGrouped Pigmentation of the Macula (C565530)
..expandHeterochromia iridis (C538115)
..expandHyperpigmentation (D017495) Child30
..expandHypopigmentation (D017496) Child49
..expandIncontinentia Pigmenti (D007184) Child2
..expandLeukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..expandMacules hereditary congenital hypopigmented and hyperpigmented (C537836)
..expandOculocerebral hypopigmentation syndrome type Preus (C537866)
..expandPeeling skin syndrome, acral type (C536316)
..expandPigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..expandPigmented purpuric eruption (C537186)
..expandPropping Zerres syndrome (C538052)
..expandRed skin pigment anomaly of New Guinea (C535515)
..expandRussell-Silver Syndrome, X-Linked (C562446)
..expandSkin/Hair/Eye Pigmentation, Variation In, 10 (C567376)
..expandSkin/Hair/Eye Pigmentation, Variation In, 11 (C567374)
..expandSkin/Hair/Eye Pigmentation, Variation In, 4 (C567300)
..expandSkin/Hair/Eye Pigmentation, Variation In, 5 (C567119)
..expandSkin/Hair/Eye Pigmentation, Variation In, 6 (C567139)
..expandSkin/Hair/Eye Pigmentation, Variation In, 7 (C567155)
..expandSkin/Hair/Eye Pigmentation, Variation In, 8 (C567096)
..expandSkin/Hair/Eye Pigmentation, Variation In, 9 (C567091)
..expandSpastic paraplegia 23 (C536859)
..expandTang Hsi Ryu syndrome (C536897)
..expandTERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
..expandTerminal Osseous Dysplasia and Pigmentary Defects (C564554)
..expandThumb deformity, alopecia, pigmentation anomaly (C536904)
..expandUrticaria Pigmentosa (D014582)
..expandWAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
..expandWhite forelock with malformations (C536700)
..expandWhyte Murphy syndrome (C536054)
..expandXeroderma Pigmentosum (D014983) Child16
..expandYellow Nail Syndrome (D056684) Child1
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:3680
Name:Elejalde Disease
Definition:
Alternative IDs:
ParentIDs:MESH:D010859|MESH:D020752
TreeNumbers:C10.562/C536203 |C16.131.077.350.712/C536203 |C16.131.831.350.712/C536203 |C16.320.850.250.712/C536203 |C17.800.621/C536203 |C17.800.804.350.712/C536203 |C17.800.827.250.712/C536203
Synonyms:Melanolysosomal neurocutaneous syndrome |Neuroectodermal melanolysosomal disease |Neuro-ectodermal melanolysosomal syndrome
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Skin disease
Reference: MedGen: C536203
MeSH: C536203
OMIM: 256710;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0001008Accumulation of melanosomes in melanocytes
4 HP:0001251Ataxia
5 HP:0003819Death in childhood
6 HP:0000577Exotropia
7 HP:0001290Generalized hypotonia
8 HP:0001263Global developmental delay
9 HP:0001010Hypopigmentation of the skin
10 HP:0001252Hypotonia
11 HP:0001249Intellectual disability
12 HP:0002220Melanin pigment aggregation in hair shafts
13 HP:0000639Nystagmus
14 HP:0001250Seizure
15 HP:0002218Silver-gray hair
16 HP:0001257Spasticity
Disease Causing ClinVar Variants