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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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: Hereditary Central Nervous System Demyelinating Diseases (D020279)
Parent Node: Sphingolipidoses (D013106)
..Starting node ..Leukodystrophy, Globoid Cell (D007965)
Child Nodes:
........Krabbe Disease, Atypical, due to Saposin A Deficiency (C567097)
Sister Nodes:
..Fabry Disease (D000795) 2
..Farber Lipogranulomatosis (D055577)
..Gangliosidoses (D005733) 16
..Gaucher Disease (D005776) 8
..Leukodystrophy, Globoid Cell (D007965) 1
..Niemann-Pick Diseases (D009542) 8
..Sea-Blue Histiocyte Syndrome (D012618)
..Sulfatidosis (D052516) 7
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6381

Name:

Leukodystrophy, Globoid Cell

Definition:

An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses.

Alternative IDs:

OMIM:245200

ParentIDs:

MESH:D013106|MESH:D020279

TreeNumbers:

C10.228.140.163.100.362.500 |C10.228.140.163.100.435.825.590 |C10.228.140.695.625.500 |C10.314.400.500 |C16.320.565.189.362.500 |C16.320.565.189.435.825.590 |C16.320.565.398.641.803.585 |C16.320.565.595.554.825.590 |C18.452.132.100.362.500 |C18.452.132.100.435.82

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: D007965
MeSH: D007965
OMIM: 245200;

Genes: GALC;

Phenotypes

1	HP:0001973	Autoimmune thrombocytopenia
2	HP:0000007	Autosomal recessive inheritance
3	HP:0007928	Abnormal flash visual evoked potentials
4	HP:0000618	Blindness
5	HP:0007305	CNS demyelination
6	HP:0025013	Decerebrate rigidity
7	HP:0000762	Decreased nerve conduction velocity
8	HP:0002376	Developmental regression
9	HP:0002506	Diffuse cerebral atrophy
10	HP:0002353	EEG abnormality
11	HP:0001508	Failure to thrive
12	HP:0000365	Hearing impairment
13	HP:0000238	Hydrocephalus
14	HP:0006801	Hyperactive deep tendon reflexes
15	HP:0001276	Hypertonia
16	HP:0001252	Hypotonia
17	HP:0002922	Increased CSF protein
18	HP:0002333	Motor deterioration
19	HP:0002180	Neurodegeneration
20	HP:0000639	Nystagmus
21	HP:0000648	Optic atrophy
22	HP:0011096	Peripheral demyelination
23	HP:0002191	Progressive spasticity
24	HP:0001954	Recurrent fever
25	HP:0001250	Seizure
26	HP:0007141	Sensorimotor neuropathy
27	HP:0002013	Vomiting

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000153.3(GALC):c.2041G>A (p.Val681Met)	2581	GALC	Uncertain significance	200607029	RCV000206966;	N	MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005	14	88401093	88401093	NM_000153.3:c.2041G>A	NP_000144.2:p.Val681Met	NC_000014.8:g.88401093C>T	-	C0023521 245200 Galactosylceramide beta-galactosidase deficiency
NM_000153.3(GALC):c.1796T>G (p.Ile599Ser)	2581	GALC	Pathogenic	387906953	RCV000023589;	N	MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005	14	88407777	88407777	NM_000153.3:c.1796T>G	NP_000144.2:p.Ile599Ser	NC_000014.8:g.88407777A>C	OMIM Allelic Variant:606890.0004	C0023521 245200 Galactosylceramide beta-galactosidase deficiency
NM_000153.3(GALC):c.1700A>C (p.Tyr567Ser)	2581	GALC	Likely pathogenic	752537626	RCV000169344;	N	MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005	14	88407873	88407873	NM_000153.3:c.1700A>C	NP_000144.2:p.Tyr567Ser	NC_000014.8:g.88407873T>G	-	C0023521 245200 Galactosylceramide beta-galactosidase deficiency
NM_000153.3(GALC):c.1657G>A (p.Gly553Arg)	2581	GALC	Likely pathogenic	748573754	RCV000169525;	N	MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005	14	88411910	88411910	NM_000153.3:c.1657G>A	NP_000144.2:p.Gly553Arg	NC_000014.8:g.88411910C>T	-	C0023521 245200 Galactosylceramide beta-galactosidase deficiency
NM_000153.3(GALC):c.1630G>A (p.Asp544Asn)	2581	GALC	Pathogenic	387906952	RCV000023588;	N	MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005	14	88411937	88411937	NM_000153.3:c.1630G>A	NP_000144.2:p.Asp544Asn	NC_000014.8:g.88411937C>T	OMIM Allelic Variant:606890.0003	C0023521 245200 Galactosylceramide beta-galactosidase deficiency
NM_000153.3(GALC):c.1592G>A (p.Arg531His)	2581	GALC	Pathogenic	200378205	RCV000174662; RCV000153296;	N	MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005; MedGen:CN221809	14	88411975	88411975	NM_000153.3:c.1592G>A	NP_000144.2:p.Arg531His	NC_000014.8:g.88411975C>T	HGMD:CM990620	C0023521 245200 Galactosylceramide beta-galactosidase deficiency; CN221809 not provided
NM_000153.3(GALC):c.1591C>T (p.Arg531Cys)	2581	GALC	Likely pathogenic	749893889	RCV000169377;	N	MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005	14	88411976	88411976	NM_000153.3:c.1591C>T	NP_000144.2:p.Arg531Cys	NC_000014.8:g.88411976G>A	-	C0023521 245200 Galactosylceramide beta-galactosidase deficiency
NM_000153.3(GALC):c.1543G>A (p.Glu515Lys)	2581	GALC	Likely pathogenic	794727116	RCV000174663;	N	MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005	14	88412024	88412024	NM_000153.3:c.1543G>A	NP_000144.2:p.Glu515Lys	NC_000014.8:g.88412024C>T	-	C0023521 245200 Galactosylceramide beta-galactosidase deficiency
NM_000153.3(GALC):c.1472delA (p.Lys491Argfs)	2581	GALC	Pathogenic	771489305	RCV000169172;	N	MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005	14	88414089	88414089	NM_000153.3:c.1472delA	NP_000144.2:p.Lys491Argfs	NC_000014.8:g.88414089delT	-	C0023521 245200 Galactosylceramide beta-galactosidase deficiency
NM_000153.3(GALC):c.1161+2T>G	2581	GALC	Pathogenic	398123175	RCV000173647; RCV000078189;	N	MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005; MedGen:CN221809	14	88429726	88429726	NM_000153.3:c.1161+2T>G		NC_000014.8:g.88429726A>C	-	C0023521 245200 Galactosylceramide beta-galactosidase deficiency; CN221809 not provided
NM_000153.3(GALC):c.1153G>T (p.Glu385Ter)	2581	GALC	Pathogenic	121908010	RCV000004022;	N	MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005	14	88429736	88429736	NM_000153.3:c.1153G>T	NP_000144.2:p.Glu385Ter	NC_000014.8:g.88429736C>A	OMIM Allelic Variant:606890.0001	C0023521 245200 Galactosylceramide beta-galactosidase deficiency
NM_000153.3(GALC):c.955delT (p.Tyr319Metfs)	2581	GALC	Likely pathogenic	786204454	RCV000169089;	N	MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005	14	88431927	88431927	NM_000153.3:c.955delT	NP_000144.2:p.Tyr319Metfs	NC_000014.8:g.88431927delA	-	C0023521 245200 Galactosylceramide beta-galactosidase deficiency
NM_000153.3(GALC):c.953C>G (p.Pro318Arg)	2581	GALC	Pathogenic	387906954	RCV000023594;	N	MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005	14	88431929	88431929	NM_000153.3:c.953C>G	NP_000144.2:p.Pro318Arg	NC_000014.8:g.88431929G>C	OMIM Allelic Variant:606890.0009	C0023521 245200 Galactosylceramide beta-galactosidase deficiency
NM_000153.3(GALC):c.908+1G>A	2581	GALC	Likely pathogenic	750524447	RCV000169153;	N	MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005	14	88434678	88434678	NM_000153.3:c.908+1G>A		NC_000014.8:g.88434678C>T	-	C0023521 245200 Galactosylceramide beta-galactosidase deficiency
NM_000153.3(GALC):c.862T>C (p.Trp288Arg)	2581	GALC	Likely pathogenic	398123177	RCV000180100; RCV000078208;	N	MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005; MedGen:CN221809	14	88434725	88434725	NM_000153.3:c.862T>C	NP_000144.2:p.Trp288Arg	NC_000014.8:g.88434725A>G	-	C0023521 245200 Galactosylceramide beta-galactosidase deficiency; CN221809 not provided
NM_000153.3(GALC):c.857G>A (p.Gly286Asp)	2581	GALC	Likely pathogenic;Pathogenic	199847983	RCV000023593;	N	MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005	14	88434730	88434730	NM_000153.3:c.857G>A	NP_000144.2:p.Gly286Asp	NC_000014.8:g.88434730C>T	OMIM Allelic Variant:606890.0008	C0023521 245200 Galactosylceramide beta-galactosidase deficiency
NM_000153.3(GALC):c.658C>T (p.Arg220Ter)	2581	GALC	Likely pathogenic	766310671	RCV000169413;	N	MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005	14	88442796	88442796	NM_000153.3:c.658C>T	NP_000144.2:p.Arg220Ter	NC_000014.8:g.88442796G>A	-	C0023521 245200 Galactosylceramide beta-galactosidase deficiency
NM_000153.3(GALC):c.599C>A (p.Ser200Ter)	2581	GALC	Likely pathogenic	786204618	RCV000169386;	N	MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005	14	88448571	88448571	NM_000153.3:c.599C>A	NP_000144.2:p.Ser200Ter	NC_000014.8:g.88448571G>T	-	C0023521 245200 Galactosylceramide beta-galactosidase deficiency
NM_000153.3(GALC):c.489G>A (p.Trp163Ter)	2581	GALC	Likely pathogenic	761550284	RCV000169212;	N	MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005	14	88450831	88450831	NM_000153.3:c.489G>A	NP_000144.2:p.Trp163Ter	NC_000014.8:g.88450831C>T	-	C0023521 245200 Galactosylceramide beta-galactosidase deficiency
NM_000153.3(GALC):c.430delA (p.Ile144Leufs)	2581	GALC	Pathogenic	775277935	RCV000178046;	N	MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005	14	88452845	88452845	NM_000153.3:c.430delA	NP_000144.2:p.Ile144Leufs	NC_000014.8:g.88452845delT	-	C0023521 245200 Galactosylceramide beta-galactosidase deficiency
NM_000153.3(GALC):c.388G>A (p.Glu130Lys)	2581	GALC	Likely pathogenic	374635469	RCV000169155;	N	MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005	14	88452887	88452887	NM_000153.3:c.388G>A	NP_000144.2:p.Glu130Lys	NC_000014.8:g.88452887C>T	-	C0023521 245200 Galactosylceramide beta-galactosidase deficiency
NM_000153.3(GALC):c.334A>G (p.Thr112Ala)	2581	GALC	Pathogenic	147313927	RCV000178047; RCV000078200;	N	MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005; MedGen:CN221809	14	88452941	88452941	NM_000153.3:c.334A>G	NP_000144.2:p.Thr112Ala	NC_000014.8:g.88452941T>C	HGMD:CM960678	C0023521 245200 Galactosylceramide beta-galactosidase deficiency; CN221809 not provided
NM_000153.3(GALC):c.331G>A (p.Gly111Ser)	2581	GALC	Pathogenic	756690487	RCV000195270;	N	MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005	14	88452944	88452944	NM_000153.3:c.331G>A	NP_000144.2:p.Gly111Ser	NC_000014.8:g.88452944C>T	-	C0023521 245200 Galactosylceramide beta-galactosidase deficiency
NM_000153.3(GALC):c.205C>T (p.Arg69Ter)	2581	GALC	Pathogenic	771111145	RCV000175531;	N	MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005	14	88454858	88454858	NM_000153.3:c.205C>T	NP_000144.2:p.Arg69Ter	NC_000014.8:g.88454858G>A	-	C0023521 245200 Galactosylceramide beta-galactosidase deficiency
NM_000153.3(GALC):c.169G>A (p.Gly57Ser)	2581	GALC	Pathogenic	11623	RCV000173074;	N	MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005	14	88459340	88459340	NM_000153.3:c.169G>A	NP_000144.2:p.Gly57Ser	NC_000014.8:g.88459340C>T	-	C0023521 245200 Galactosylceramide beta-galactosidase deficiency
NM_000153.3(GALC):c.121G>A (p.Gly41Ser)	2581	GALC	Pathogenic	387906955	RCV000023595;	N	MedGen:C0023521,OMIM:245200,ORPHA:487,SNOMED CT:192782005	14	88459388	88459388	NM_000153.3:c.121G>A	NP_000144.2:p.Gly41Ser	NC_000014.8:g.88459388C>T	OMIM Allelic Variant:606890.0010	C0023521 245200 Galactosylceramide beta-galactosidase deficiency