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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessAceruloplasminemia, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Aceruloplasminemia comprising altogether 135 curated genes according to the clinical signs

ID
AP9226
Number of genes
132 Accredited laboratory test
Examined sequence length
3,2 kb (Core-/Core-canditate-Genes)
387,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS + X

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
CP3198NM_000096.4AR
ABCB72259NM_004299.6XLR
ABHD121197NM_001042472.3AR
ACO22343NM_001098.3AR
AFG3L22394NM_006796.3AR, AD
ANO101983NM_018075.5AR
ANO32946NM_031418.4AD
APTX1029NM_175073.3AR
ATCAY1116NM_033064.5AR
ATG5835NM_004849.4AR
ATM9171NM_000051.4AR
ATN13573NM_001007026.2AD
ATP1A33042NM_152296.5AD
ATP2B33663NM_001001344.2XLR
ATP7B4398NM_000053.4AR
ATP8A23567NM_016529.6AR
ATXN12448NM_000332.3AD
ATXN101236NM_001167621.2AD
ATXN23462NM_002973.4AD
ATXN31086NM_004993.6AD
ATXN72679NM_000333.4AD
BEAN1780NM_001178020.3AD
C9orf721446NM_018325.5AD
CACNA1A6786NM_001127221.2AD
CACNA1G6945NM_018896.5AD
CACNB41563NM_000726.5AD, AR
CAPN12145NM_001198868.2AR
CASK2766NM_003688.3XL
CCDC88C6087NM_001080414.4AD, AR
CLCN22697NM_004366.6AR
CLN51077NM_006493.4AR
COQ8A1944NM_020247.5AR
CWF19L11617NM_018294.6AR
CYP27A11596NM_000784.4AR
DNMT14899NM_001130823.3AD
ECHS1873NM_004092.4AR
EEF22577NM_001961.4AD
ELOVL4945NM_022726.4AR
ELOVL5900NM_021814.5AD
FAT213050NM_001447.3AD
FGF12848NM_021032.5AD
FGF14744NM_004115.4AD
FLVCR11668NM_014053.4AR
FMR11899NM_002024.6XL
FTL528NM_000146.4AD
FXN633NM_000144.5AR
GCH1753NM_000161.3AD, AR
GDAP21757NM_001135589.3AR
GNAL1146NM_001142339.3AD
GOSR2639NM_004287.5AR
GRID23024NM_001510.4AR
GRM13585NM_001278064.2AD, AR
HFE1047NM_000410.4AR
HTT9429NM_002111.8AD
ITPR18088NM_002222.7AD, AR
KCNA11488NM_000217.3AD
KCNC32274NM_004977.3AD
KCND31968NM_004980.5AD
KCNJ101140NM_002241.5AR
KIF1C3312NM_006612.6AR
KMT2D16614NM_003482.4AD
LAMA19228NM_005559.4AR
MARS21782NM_138395.4AR
MME2253NM_007289.4AD, AR
MTCL14996NM_015210.4AR
MTPAP1749NM_018109.4AR
OPHN12409NM_002547.3XL
PANK21713NM_153638.4AR
PCDH123559NM_016580.4AR
PDYN765NM_024411.5AD
PEX7972NM_000288.4AR
PHYH1017NM_006214.4AR
PLD31473NM_001031696.4AD
PMPCA1875NM_015160.3AR
PNKD429NM_015488.5AD
PNKP1566NM_007254.4AR
PNPLA63984NM_006702.5AR
POLG3720NM_002693.3AD, AR
POLR3A4173NM_007055.4AR
POLR3B3402NM_018082.6AR
PPP2R2B1350NM_181678.2AD
PRKCG2094NM_002739.5AD
PRKRA942NM_003690.5AR
PRRT21023NM_145239.3AD
PTF1A987NM_178161.3AR
PUM13602NM_001020658.2AD
RNF2162772NM_207111.4AR
RUBCN2784NM_001145642.4AR
SACS13740NM_014363.6AR
SCN2A6018NM_021007.3AD
SETX8034NM_015046.7AR
SGCE1314NM_003919.3AD
SIL11386NM_022464.5AR
SLC1A31629NM_004172.5AD
SLC25A461257NM_138773.4AR
SLC2A11479
  • No OMIM-Gs linked
NM_006516.4AR
SLC52A21338NM_024531.5AR
SLC9A12448NM_003047.5AR
SLC9A62010NM_006359.3XL
SNX142841NM_153816.6AR
SPG72388NM_003119.4AR, AD
SPR786NM_003124.5AR
SPTBN27173NM_006946.4AR
SQSTM11323NM_003900.5AR
STUB1912NM_005861.4AR, AD
SYNE126250NM_033071.4AR, AD
SYT141860NM_001146261.3AR
TAF15682NM_004606.5XLR
TDP11827NM_018319.4AR
TDP21089NM_016614.3AR
TGM62121NM_198994.3AD
TH1587NM_199292.3AR
THAP1642NM_018105.3AD
TMEM240522NM_001114748.2AD
TOR1A999NM_000113.3AD
TPP11692NM_000391.4AR
TRPC32766NM_001130698.2AD
TSFM1041NM_001172696.2AR
TTBK23735NM_173500.4AD
TTPA837NM_000370.3AR
TUBB4A1335NM_006087.4AD
TWNK2055NM_021830.5AD, AR
TXN2501NM_012473.4AR
UBA51255NM_024818.6AR
UFM1405NM_001286704.2AR
VAMP1357NM_014231.5AR
VLDLR2622NM_003383.5AR
VPS13D13236NM_015378.4AR
VWA3B3885NM_144992.5AR
WDR731137NM_032856.5AR
WFS12673NM_006005.3AR, AD
WWOX1245NM_016373.4AR

Informations about the disease

Clinical Comment

In aceruloplasminemia iron gradually accumulates in the brain (and other organs) resulting in neurological problems in adulthood. Movement problems (dystonia, tremors, chorea, blepharospasms, ataxia etc.) worsen over time. Some patients develop psychiatric problems and dementia after age forty. Diabetes mellitus is caused by iron damage in the pancreas. Iron accumulation in the organs results in deficiency in the blood and anemia in the twenties. Also atrophy in the retina is caused by excess iron. The specific features of aceruloplasminemia and the severity may vary, even within the same family. This condition is inherited in an autosomal recessive pattern via mutations in the CP gene. The molecular genetic yield exceeds 95% in Japanese patients with low-intensity areas in, both, the basal ganglia and liver on MRI. Thus the clinical diagnosis is not always proven by DNA testing, and the genes to be considered in differential diagnosis are numerous.

Genes (###)

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1493/

 

Synonyms
  • Alias: Aceruloplasminemia
  • Alias: Azeruloplasminämie
  • Alias: Deficiency of ferroxidase
  • Alias: Hereditary ceruloplasmin deficiency (CP)
  • Allelic: Arthrogryposis multiplex congenita 3, myogenic type (SYNE1)
  • Allelic: Arthrogryposis multiplex congenita 5 (TOR1A)
  • Allelic: Brugada syndrome 9 (KCND3)
  • Allelic: Cataract 41 (WFS1)
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 2T (MME)
  • Allelic: Charcot-Marie-Tooth disease, type 2B2 (PNKP)
  • Allelic: Combined oxidative phosphorylation deficiency 25 (MARS2)
  • Allelic: Deafness, AD 6/14/38 (WFS1)
  • Allelic: Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
  • Allelic: Enlarged vestibular aqueduct, digenic (KCNJ10)
  • Allelic: Fragile X syndrome (FLVCR1)
  • Allelic: Hydrocephalus, congenital, 1 (CCDC88C)
  • Allelic: Hyperaldosteronism, familial, type II (CLCN2)
  • Allelic: Hyperferritinemia-cataract syndrome (FTL)
  • Allelic: Ichthyosis, spastic quadriplegia + mental retardation (ELOVL4)
  • Allelic: Lopes-Maciel-Rodan syndrome (HTT)
  • Allelic: Migraine, familial hemiplegic, 1 (CACNA1A)
  • Allelic: Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia (CACNA1A)
  • Allelic: Mitochondrial DNA depletion syndrome 4A, Alpers type (POLG)
  • Allelic: Mitochondrial DNA depletion syndrome 4B, MNGIE type (POLG)
  • Allelic: Myasthenic syndrome, congenital, 25 (VAMP1)
  • Allelic: Myopathy, distal, with rimmed vacuoles (SQSTM1)
  • Allelic: Neuropathy, hereditary motor + sensory, type VIB ((SLC25A46)
  • Allelic: Neuropathy, hereditary sensory, type IE (DNMT1)
  • Allelic: Optic atrophy 12 (AFG3L2)
  • Allelic: Optic atrophy 9 (ACO2)
  • Allelic: Paget disease of bone 3 (SQSTM1)
  • Allelic: Pancreatic agenesis 2 (PTF1A)
  • Allelic: Perrault syndrome 5 (TWNK)
  • Allelic: Premature ovarian failure 1 (FLVCR1)
  • Allelic: Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 3 (TWNK)
  • Allelic: Progressive external ophthalmoplegia, AD 1 (POLG)
  • Allelic: Progressive external ophthalmoplegia, AR 1 (POLG)
  • Allelic: Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
  • Allelic: Seizures, benign familial infantile, 2 (PRRT2)
  • Allelic: Seizures, benign familial infantile, 3 (SCN2A)
  • Allelic: Stargardt disease 3 (ELOVL4)
  • Alternating hemiplegia of childhood 2 (ATP1A3)
  • Amyotrophic lateral sclerosis 4, juvenile (SETX)
  • Anemia, sideroblastic, with ataxia (ABCB7)
  • Ataxia with isolated vitamin E deficiency (TTPA)
  • Ataxia, cerebellar, Cayman type (ATCAY)
  • Ataxia, early-onset, with oculomotor apraxia + hypoalbuminemia (APTX)
  • Ataxia, posterior column, with retinitis pigmentosa (FLVCR1)
  • Ataxia-oculomotor apraxia 4 (PNKP)
  • Ataxia-telangiectasia (ATM)
  • Boucher-Neuhauser syndrome (PNPLA6)
  • Brown-Vialetto-Van Laere syndrome 2 (SLC52A2)
  • CAPOS syndrome, Cereb. ataxia, Areflexia, Pes cavus, optic atrophy, sensorin. hear loss (ATP1A3)
  • Cerebellar ataxia (CP)
  • Cerebellar ataxia + hypogonadotropic hypogonadism (RNF216)
  • Cerebellar ataxia, deafness + narcolepsy, AD (DNMT1)
  • Cerebellar ataxia, mental retardation + dysequilibrium syndrome 4 (ATP8A2)
  • Cerebellar ataxia, neuropathy + vestibular areflexia syndrome (RFC1)
  • Cerebellar hypoplasia + mental retardation with/-out quadrupedal locomotion 1 (VLDLR)
  • Cerebrotendinous xanthomatosis (CYP27A1)
  • Ceroid lipofuscinosis, neuronal, 2 (TPP1)
  • Ceroid lipofuscinosis, neuronal, 5 (CLN5)
  • Coenzyme Q10 deficiency, primary, 4 (COQ8A)
  • Combined oxidative phosphorylation deficiency 29 (TXN2)
  • Combined oxidative phosphorylation deficiency 3 (TSFM)
  • Congenital hypotonia, epilepsy, developmental delay + digital anomalies (ATN1)
  • Convulsions, familial infantile, with paroxysmal choreoathetosis (PRRT2)
  • Dentatorubral-pallidoluysian atrophy (ATN1)
  • Developmental + epileptic encephalopathy 11 (SCN2A)
  • Developmental + epileptic encephalopathy 28 (WWOX)
  • Developmental + epileptic encephalopathy 42 (CACNA1A)
  • Developmental + epileptic encephalopathy 44 (UBA5)
  • Developmental + epileptic encephalopathy 47 (FGF12)
  • Developmental + epileptic encephalopathy 99 (ATP1A3)
  • Diencephalic-mesencephalic junction dysplasia syndrome 1 (PCDH12)
  • Dystonia 16 (PRKRA)
  • Dystonia 24 (ANO3)
  • Dystonia 25 (GNAL)
  • Dystonia 4, torsion, AD (TUBB4A)
  • Dystonia 6, torsion (THAP1)
  • Dystonia 9 (SLC2A1)
  • Dystonia, DOPA-responsive, with/-out hyperphenylalaninemia (GCH1)
  • Dystonia, dopa-responsive, due to sepiapterin reductase deficiency (SPR)
  • Dystonia-1, torsion (TOR1A)
  • Dystonia-11, myoclonic (SGCE)
  • Dystonia-12 (ATP1A3)
  • Dystonia-Parkinsonism, XL (TAF1)
  • Epilepsy, progressive myoclonic 6 (GOSR2)
  • Episodic ataxia, type 2 (CACNA1A)
  • Episodic ataxia, type 5 (CACNB4)
  • Episodic ataxia, type 6 (SLC1A3)
  • Episodic ataxia, type 9 (SCN2A)
  • Episodic ataxia/myokymia syndrome (KCNA1)
  • Episodic kinesigenic dyskinesia 1 (PRRT2)
  • FG syndrome 4 (CASK)
  • Familial apoceruloplasmin deficiency (CP)
  • Fragile X tremor/ataxia syndrome (FLVCR1)
  • Friedreich ataxia (FXN)
  • Friedreich ataxia with retained reflexes (FXN)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (TWNK)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (SQSTM1)
  • GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
  • GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
  • Galloway-Mowat syndrome 1 (WDR73)
  • Gillespie syndrome (ITPR1)
  • HARP [hypoprebetalipoproteinemia, acanthocytosis, RP + pallidal degeneration] syndrome (PANK2)
  • Hemochromatosis (HFE)
  • Hemosiderosis, systemic, due to aceruloplasminemia (CP)
  • Huntington disease (HTT)
  • Hyperphenylalaninemia, BH4-deficient, B (GCH1)
  • Hypoceruloplasminemia, hereditary (CP)
  • Infantile cerebellar-retinal degeneration (ACO2)
  • Intellectual developmental disorder + microcephaly with pontine + cerebellar hypoplasia (CASK)
  • Intellectual developmental disorder, XL syndromic 33 (TAF1)
  • Intellectual developmental disorder, XL syndromic, Billuart type (OPHN1)
  • Intellectual developmental disorder, XL syndromic, Christianson type (SLC9A6)
  • Kabuki syndrome 1 (KMT2D)
  • L-ferritin deficiency, AD + AR (FTL)
  • Laurence-Moon syndrome (PNPLA6)
  • Leukodystrophy, hypomyelinating, 14 (UFM1)
  • Leukodystrophy, hypomyelinating, 6 (TUBB4A)
  • Leukodystrophy, hypomyelinating, 7, with/-out oligodontia +/- hypogonadotropic hypogonadism (POLR3A)
  • Leukodystrophy, hypomyelinating, 8, with/-out oligodontia +/- hypogonadotropic hypogonadism (POLR3B)
  • Leukoencephalopathy with ataxia (CLCN2)
  • Lichtenstein-Knorr syndrome (SLC9A1)
  • Machado-Joseph disease (ATXN3)
  • Marinesco-Sjogren syndrome (SIL1)
  • Mental retardation, with/-out nystagmus (CASK)
  • Microcephaly, seizures + developmental delay (PNKP)
  • Mitochondrial DNA depletion syndrome 7, hepatocerebral type (TWNK)
  • Mitochondrial recessive ataxia syndrome, includes SANDO + SCAE (POLG)
  • Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1)
  • Neurodegeneration with ataxia, dystonia + gaze palsy, childhood-onset (SQSTM1)
  • Neurodegeneration with brain iron accumulation 1 (PANK2)
  • Neurodegeneration with brain iron accumulation 3 (FTL)
  • Oliver-McFarlane syndrome (PNPLA6)
  • Pancreatic + cerebellar agenesis (PTF1A)
  • Paroxysmal nonkinesigenic dyskinesia 1 (PNKD)
  • Peroxisome biogenesis disorder 9B (PEX7)
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa + cataract (ABHD12)
  • Pontocerebellar hypoplasia, type 1E (SLC25A46)
  • Poretti-Boltshauser syndrome (LAMA1)
  • Refsum disease (PHYH)
  • SESAME syndrome (KCNJ10)
  • Segawa syndrome, AR (TH)
  • Slowly progressive cerebellar ataxia, ID, seizures, episodic pain [panelapp] (MTCL1)
  • Spastic ataxia 1, AD (VAMP1)
  • Spastic ataxia 2, AR (KIF1C)
  • Spastic ataxia 3, AR (MARS2)
  • Spastic ataxia 4, AR (MTPAP)
  • Spastic ataxia 5, AR (AFG3L2)
  • Spastic ataxia, Charlevoix-Saguenay type (SACS)
  • Spastic paraplegia 39, AR (PNPLA6)
  • Spastic paraplegia 7, AR (SPG7)
  • Spastic paraplegia 76, AR (CAPN1)
  • Spinocerebellar ataxia 1 (ATXN1)
  • Spinocerebellar ataxia 10 (ATXN10)
  • Spinocerebellar ataxia 11 (TTBK2)
  • Spinocerebellar ataxia 12 (PP2R2B)
  • Spinocerebellar ataxia 13 (KCNC3)
  • Spinocerebellar ataxia 14 (PRKCG)
  • Spinocerebellar ataxia 15 (ITPR1)
  • Spinocerebellar ataxia 17 (TBP)
  • Spinocerebellar ataxia 19 (KCND3)
  • Spinocerebellar ataxia 2 (ATXN2)
  • Spinocerebellar ataxia 21 (TMEM240)
  • Spinocerebellar ataxia 23 (PDYN)
  • Spinocerebellar ataxia 26 (EEF2)
  • Spinocerebellar ataxia 27 (FGF14)
  • Spinocerebellar ataxia 28 (AFG3L2)
  • Spinocerebellar ataxia 29, congenital nonprogressive (ITPR1)
  • Spinocerebellar ataxia 31 (BEAN1)
  • Spinocerebellar ataxia 34 (ELOVL4)
  • Spinocerebellar ataxia 35 (TGM6)
  • Spinocerebellar ataxia 36 (NOP56)
  • Spinocerebellar ataxia 38 (ELOVL5)
  • Spinocerebellar ataxia 40 (CCDC88C)
  • Spinocerebellar ataxia 41 (TRPC3)
  • Spinocerebellar ataxia 42 (CACNA1G)
  • Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (CACNA1G)
  • Spinocerebellar ataxia 43 (MME)
  • Spinocerebellar ataxia 44 (GRM1)
  • Spinocerebellar ataxia 45 (FAT2)
  • Spinocerebellar ataxia 46 (PLD3)
  • Spinocerebellar ataxia 47 (PUM1)
  • Spinocerebellar ataxia 48 (STUB1)
  • Spinocerebellar ataxia 5 (SPTNB2)
  • Spinocerebellar ataxia 6 (CACNA1A)
  • Spinocerebellar ataxia 7 (ATXN7)
  • Spinocerebellar ataxia, AR 10 (ANO10)
  • Spinocerebellar ataxia, AR 11 (SYT14)
  • Spinocerebellar ataxia, AR 12 (WWOX)
  • Spinocerebellar ataxia, AR 13 (GRM1)
  • Spinocerebellar ataxia, AR 14 (SPTBN2)
  • Spinocerebellar ataxia, AR 15 (RUBCN)
  • Spinocerebellar ataxia, AR 16 (STUB1)
  • Spinocerebellar ataxia, AR 17 (CWF19L1)
  • Spinocerebellar ataxia, AR 18 (GRID2)
  • Spinocerebellar ataxia, AR 2 (PMPCA)
  • Spinocerebellar ataxia, AR 20 (SNX14)
  • Spinocerebellar ataxia, AR 22 (VWA3B)
  • Spinocerebellar ataxia, AR 23 (TDP2)
  • Spinocerebellar ataxia, AR 24 (UBA5)
  • Spinocerebellar ataxia, AR 25 (ATG5)
  • Spinocerebellar ataxia, AR 27 (GDAP2)
  • Spinocerebellar ataxia, AR 4 (VPS13D)
  • Spinocerebellar ataxia, AR 7 (TPP1)
  • Spinocerebellar ataxia, AR 8 (SYNE1)
  • Spinocerebellar ataxia, AR, with axonal neuropathy 1 (TDP1)
  • Spinocerebellar ataxia, AR, with axonal neuropathy 2 (SETX)
  • Spinocerebellar ataxia, XL 1 (ATP2B3)
  • Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
  • Wiedemann-Rautenstrauch syndrome (POLR3A)
  • Wilson disease (ATP7B)
  • Wolfram syndrome 1 (WFS1)
  • Wolfram-like syndrome, AD (WFS1)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined