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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
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Cataract (D002386)
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Hepatomegaly (D006529)
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Hyperkalemia (D006947)
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Intellectual Disability (D008607)
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Seizures (D012640)
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Splenomegaly (D013163)
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Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)

       Child Nodes:



 Sister Nodes: 
..expandBanti's syndrome (C537903)
..expandCryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
..expandDykes Markes Harper syndrome (C535727)
..expandMyeloid splenomegaly (C536094)
..expandSplenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T-Helper Cells (C566666)
..expandTang Hsi Ryu syndrome (C536897)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:2874
Name:Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
Definition:
Alternative IDs:
ParentIDs:MESH:D002386|MESH:D006529|MESH:D006947|MESH:D008607|MESH:D012640|MESH:D013163
TreeNumbers:C06.552.416/C563840 |C10.228.140.490.631/C563840 |C10.597.606.643/C563840 |C10.597.742/C563840 |C11.510.245/C563840 |C18.452.950.396/C563840 |C23.300.775.525/C563840 |C23.300.775.750/C563840 |C23.888.592.604.646/C563840 |C23.888.592.742/C563840 |F03.550.600/C56384
Synonyms:Stomatin-Deficient Cryohydrocytosis with Neurologic Defects
Slim Mappings:Digestive system disease|Eye disease|Mental disorder|Metabolic disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms
Reference: MedGen: C563840
MeSH: C563840
OMIM: 608885;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003593Infantile onset
3 HP:0001344Absent speech
4 HP:0001251Ataxia
5 HP:0000518Cataract
6 HP:0012448Delayed myelination
7 HP:0001263Global developmental delay
8 HP:0001878Hemolytic anemia
9 HP:0002240Hepatomegaly
10 HP:0001347Hyperreflexia
11 HP:0011972Hypoglycorrhachia
12 HP:0002540Inability to walk
13 HP:0001249Intellectual disability
14 HP:0000952Jaundice
15 HP:0000252Microcephaly
16 HP:0000639Nystagmus
17 HP:0001250Seizure
18 HP:0004322Short stature
19 HP:0001257Spasticity
20 HP:0001744Splenomegaly
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_006516.2(SLC2A1):c.1306_1308delATC (p.Ile436del)6513SLC2A1Pathogenic864309522RCV000202573; NMedGen:C1837206,OMIM:608885,ORPHA:16857714339288343392885NM_006516.2:c.1306_1308delATCNP_006507.2:p.Ile436delNC_000001.10:g.43392883_43392885delGATOMIM Allelic Variant:138140.0024C1837206 608885 Cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly
NM_006516.2(SLC2A1):c.857G>A (p.Gly286Asp)6513SLC2A1Pathogenic864309514RCV000202596; NMedGen:C1837206,OMIM:608885,ORPHA:16857714339527443395274NM_006516.2:c.857G>ANP_006507.2:p.Gly286AspNC_000001.10:g.43395274C>TOMIM Allelic Variant:138140.0023C1837206 608885 Cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly