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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
129 Accredited laboratory test
Examined sequence length
3,2 kb (Core-/Base-Genes)
381,4 kb (Extended panel)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS + X

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
CP3198AR
ABCB72259XLR
ABHD121197AR
ACO22343AR
AFG3L22394AD and/or AR
ANO101983AR
ANO32946AD
APTX1029AR
ATCAY1116AR
ATG5835AR
ATM9171AD and/or AR and/or SMu and/or Sus
ATP1A33042AD
ATP2B33663XLR
ATP7B4398AR
ATP8A23567AR
ATXN12448AD
ATXN23462AD
ATXN31086AD and/or Ass
ATXN72679AD
C9orf721446AD
CACNA1A6786AD and/or Ass
CACNA1G6945AD
CACNB41563AD
CAPN12145AR
CASK2766XL
CCDC88C6087AD and/or AR
CLCN22697AD and/or AR
CLN51077AR
COQ8A1944AR
CWF19L11617AR
CYP27A11596AR
DNMT14899AD und/oder Impr
ECHS1873AR
EEF22577AD
ELOVL4945AD and/or AR
ELOVL5900AD and/or Ass
FAT213050AD
FGF12848AD
FGF14744AD
FLVCR11668AR
FMR11899XL
FTL528AD and/or AR
FXN633AR and/or Ass
GCH1753AD and/or AR
GDAP21757AR
GNAL1146AD
GOSR2639AR
GRID23024AR
GRM13585AD and/or AR
HFE1047AD and/or AR and/or Dig
HTT9429AD
ITPR18088AD and/or AR
KCNA11488AD
KCNC32274AD
KCND31968AD
KCNJ101140AR and/or Dig
KIF1C3312AR
KMT2D16614AD und/oder SMu und/oder Sus und/oder Impr
LAMA19228AR and/or Dig
MARS21782AR
MME2253AD and/or AR
MTCL14996AR
MTPAP1749AR
OPHN12409XLR
PANK21713AR
PCDH123559AR
PDYN765AD
PEX7972AR
PHYH1017AR
PLD31473AD
PMPCA1875AR
PNKD429AD
PNKP1566AR
PNPLA63984AR
POLG3720AD and/or AR
POLR3A4173AR
POLR3B3402AR
PPP2R2B1350AD
PRKCG2094AD
PRKRA942AR
PRRT21023AD
PTF1A987AR
PUM13602AD
RNF2162772AR
RUBCN2784AR
SACS13740AR
SCN2A6018AD und/oder Dig
SETX8034AD and/or AR
SGCE1314AD
SIL11386AR
SLC1A31629AD
SLC25A461257AR
SLC2A11479AD and/or AR
SLC52A21338AR
SLC9A12448AR
SLC9A62010XLD
SNX142841AR
SPG72388AD and/or AR
SPR786AD and/or AR
SPTBN27173AD and/or AR
SQSTM11323AD and/or AR
STUB1912AD and/or AR
SYNE126250AD and/or AR
SYT141860AR
TAF15682XLR
TDP11827AR
TDP21089AR
TGM62121AD
TH1587AR
THAP1642AD
TMEM240522AD
TOR1A999AD
TPP11692AR
TRPC32766AD
TSFM1041AR
TTBK23735AD
TTPA837AR
TUBB4A1335AD
TWNK2055AD and/or AR
TXN2501AR
UBA51255AR
UFM1405AR
VAMP1357AD and/or AR
VLDLR2622AR
VPS13D13236AR
VWA3B3885AR
WDR731137AR
WFS12673AD and/or AR
WWOX1245AR

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
  • AD and/or AR
  • AD and/or AR and/or Dig
  • AD and/or AR and/or SMu and/or Sus
  • AD and/or Ass
  • AD und/oder Dig
  • AD und/oder Impr
  • AD und/oder SMu und/oder Sus und/oder Impr
  • AR
  • AR and/or Ass
  • AR and/or Dig
  • XL
  • XLD
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E83.1

Bioinformatics and clinical interpretation

No text defined