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:
expandHearing Loss, Sensorineural (D006319)
Parent Node:
expandPiebaldism (D016116)
Parent Node:
expandPigmentation Disorders (D010859)
..Starting node
..expandGriscelli syndrome type 1 (C537301)

       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:4818
Name:Griscelli syndrome type 1
Definition:
Alternative IDs:OMIM:214450
ParentIDs:MESH:D006319|MESH:D010859|MESH:D016116
TreeNumbers:C09.218.458.341.887/C537301 |C10.597.751.418.341.887/C537301 |C16.320.290.040.600/C537301 |C16.320.565.100.102.600/C537301 |C16.320.850.080.600/C537301 |C17.800.621.440.102.600/C537301 |C17.800.621/C537301 |C17.800.827.080.600/C537301 |C18.452.648.100.102.600/C5
Synonyms:Griscelli syndrome, cutaneous and neurologic type |Griscelli Syndrome, Type 1 |Griscelli syndrome with neurologic impairment |GS1 |Partial albinism and primary neurologic disease without hemophagocytic syndrome
Slim Mappings:Ear-nose-throat disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms|Skin disease
Reference: MedGen: C537301
MeSH: C537301
OMIM: 214450;

Genes: MYO5A;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0001008Accumulation of melanosomes in melanocytes
4 HP:0001290Generalized hypotonia
5 HP:0001263Global developmental delay
6 HP:0001010Hypopigmentation of the skin
7 HP:0001252Hypotonia
8 HP:0001249Intellectual disability
9 HP:0002220Melanin pigment aggregation in hair shafts
10 HP:0001250Seizure
11 HP:0002218Silver-gray hair
Disease Causing ClinVar Variants