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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: Basal Ganglia Diseases (D001480)
Parent Node: Heredodegenerative Disorders, Nervous System (D020271)
Parent Node: Movement Disorders (D009069)
Parent Node: Neuroaxonal Dystrophies (D019150)
..Starting node ..Pantothenate Kinase-Associated Neurodegeneration (D006211)
Child Nodes:
........Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration (C564603)
Sister Nodes:
..Hunter Carpenter Macdonald syndrome (C536071)
..Karak Syndrome (C548029)
..NBIA2B (C565699)
..Neuroaxonal dystrophy renal tubular acidosis (C537386)
..Neurodegeneration Due To Cerebral Folate Transport Deficiency (C567791)
..Neurodegeneration with brain iron accumulation (NBIA) (C538421) 2
..Neuroferritinopathy (C548080)
..Osteopetrosis and infantile neuroaxonal dystrophy (C536055)
..Pantothenate Kinase-Associated Neurodegeneration (D006211) 1
..Schindler Disease, Type I (C536631)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8573

Name:

Pantothenate Kinase-Associated Neurodegeneration

Definition:

A rare autosomal recessive degenerative disorder which usually presents in late childhood or adolescence. Clinical manifestations include progressive MUSCLE SPASTICITY; hyperreflexia; MUSCLE RIGIDITY; DYSTONIA; DYSARTHRIA; and intellectual deterioration which progresses to severe dementia over several years. (From Adams et al., Principles of Neurology, 6th ed, p972; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp972-929)

Alternative IDs:

OMIM:234200

ParentIDs:

MESH:D001480|MESH:D009069|MESH:D019150|MESH:D020271

TreeNumbers:

C10.228.140.079.800 |C10.228.140.744.320 |C10.228.662.575 |C10.574.500.700 |C16.320.400.650

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: D006211
MeSH: D006211
OMIM: 234200;

Genes: PANK2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001760	Abnormal foot morphology
3	HP:0007256	Abnormal pyramidal sign
4	HP:0001927	Acanthocytosis
5	HP:0002304	Akinesia
6	HP:0001251	Ataxia
7	HP:0000643	Blepharospasm
8	HP:0002067	Bradykinesia
9	HP:0007313	Cerebral degeneration
10	HP:0001266	Choreoathetosis
11	HP:0003199	Decreased muscle mass
12	HP:0000726	Dementia
13	HP:0000716	Depression
14	HP:0001260	Dysarthria
15	HP:0002015	Dysphagia
16	HP:0001618	Dysphonia
17	HP:0002454	Eye of the tiger anomaly of globus pallidus
18	HP:0000658	Eyelid apraxia
19	HP:0000273	Facial grimacing
20	HP:0008872	Feeding difficulties in infancy
21	HP:0001288	Gait disturbance
22	HP:0002283	Global brain atrophy
23	HP:0001263	Global developmental delay
24	HP:0000752	Hyperactivity
25	HP:0000953	Hyperpigmentation of the skin
26	HP:0100034	Motor tics
27	HP:0003198	Myopathy
28	HP:0002180	Neurodegeneration
29	HP:0008770	Obsessive-compulsive trait
30	HP:0000648	Optic atrophy
31	HP:0002310	Orofacial dyskinesia
32	HP:0001300	Parkinsonism
33	HP:0000580	Pigmentary retinopathy
34	HP:0003678	Rapidly progressive
35	HP:0000546	Retinal degeneration
36	HP:0002063	Rigidity
37	HP:0001257	Spasticity
38	HP:0001337	Tremor
39	HP:0000020	Urinary incontinence

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_153638.3(PANK2):c.533C>A (p.Ser178Ter)	80025	PANK2	Pathogenic	137852969	RCV000004823;	N	MedGen:C0018523,OMIM:234200,ORPHA:157850,SNOMED CT:2992000	20	3870280	3870280	NM_153638.3:c.533C>A	NP_705902.2:p.Ser178Ter	NC_000020.10:g.3870280C>A	OMIM Allelic Variant:606157.0015	C0018523 234200 Pigmentary pallidal degeneration
NM_153638.3(PANK2):c.570C>G (p.Tyr190Ter)	80025	PANK2	Pathogenic	137852960	RCV000004809;	N	MedGen:C0018523,OMIM:234200,ORPHA:157850,SNOMED CT:2992000	20	3870317	3870317	NM_153638.3:c.570C>G	NP_705902.2:p.Tyr190Ter	NC_000020.10:g.3870317C>G	OMIM Allelic Variant:606157.0003	C0018523 234200 Pigmentary pallidal degeneration
NM_153638.3(PANK2):c.790C>T (p.Arg264Trp)	80025	PANK2	Pathogenic	137852961	RCV000004810;	N	MedGen:C0018523,OMIM:234200,ORPHA:157850,SNOMED CT:2992000	20	3888734	3888734	NM_153638.3:c.790C>T	NP_705902.2:p.Arg264Trp	NC_000020.10:g.3888734C>T	OMIM Allelic Variant:606157.0004	C0018523 234200 Pigmentary pallidal degeneration
NM_153638.3(PANK2):c.856C>T (p.Arg286Cys)	80025	PANK2	Pathogenic	137852962	RCV000004811;	N	MedGen:C0018523,OMIM:234200,ORPHA:157850,SNOMED CT:2992000	20	3888800	3888800	NM_153638.3:c.856C>T	NP_705902.2:p.Arg286Cys	NC_000020.10:g.3888800C>T	OMIM Allelic Variant:606157.0005	C0018523 234200 Pigmentary pallidal degeneration
NM_153638.3(PANK2):c.1412G>A (p.Ser471Asn)	80025	PANK2	Pathogenic	137852963	RCV000004812;	N	MedGen:C0018523,OMIM:234200,ORPHA:157850,SNOMED CT:2992000	20	3893281	3893281	NM_153638.3:c.1412G>A	NP_705902.2:p.Ser471Asn	NC_000020.10:g.3893281G>A	OMIM Allelic Variant:606157.0006	C0018523 234200 Pigmentary pallidal degeneration
NM_153638.3(PANK2):c.1561G>A (p.Gly521Arg)	80025	PANK2	Pathogenic	137852959	RCV000004807; RCV000004808; RCV000132732; RCV000190815;	N	MedGen:C0018523,OMIM:234200,ORPHA:157850,SNOMED CT:2992000; MedGen:C0950123; MedGen:C1846582,OMIM:607236; MedGen:C2751506	20	3899342	3899342	NM_153638.3:c.1561G>A	NP_705902.2:p.Gly521Arg		OMIM Allelic Variant:606157.0002	C1846582 607236 Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration; C0950123 Inborn genetic diseases; C2751506 Neurodegeneration with brain iron accumulation 1, atypical; C0018523 234200 Pigmentary pallidal dege
NM_153638.3(PANK2):c.1583C>T (p.Thr528Met)	80025	PANK2	Pathogenic	137852967	RCV000004816; RCV000004817; RCV000132733;	N	MedGen:C0018523,OMIM:234200,ORPHA:157850,SNOMED CT:2992000; MedGen:C1846582,OMIM:607236; MedGen:C2751506	20	3899364	3899364	NM_153638.3:c.1583C>T	NP_705902.2:p.Thr528Met		OMIM Allelic Variant:606157.0010	C1846582 607236 Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration; C2751506 Neurodegeneration with brain iron accumulation 1, atypical; C0018523 234200 Pigmentary pallidal degeneration