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

IllnessAlveolar proteinoses, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Alveolarproteinoses comprising 2 guideline-curated genes, 9 additional curated genes and altogether 28 curated genes according to the clinical signs

ID
AP5564
Number of genes
24 Accredited laboratory test
Examined sequence length
23,6 kb (Core-/Core-canditate-Genes)
50,1 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
ABCA35115AR
AP3B13138AR
ASAH11188AR
CSF2RA1203XL, YL
CSF2RB2694AR
FARSB1787AR
NKX2-11206AD
SFTPB1146AR
SFTPC594AR
SLC34A22070AD
TERT3399AD
DKC11545XLR
FAM111B2115AD
GBA11611AR
HPS12103AR
HPS42127AR
ITGA33156AR
MARS12703AR
PARN1920AD, AR
RTEL13732AD, AR
SFTPA2747AD
SLC7A71536AR
SMPD11896AR
TINF21356AD

Informations about the disease

Clinical Comment

Group of diseases

ORPHA:747 Autoimmune pulmonary alveolar proteinosis

ORPHA:264675 Hereditary pulmonary alveolar proteinosis

ORPHA:572428 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia

ORPHA:420259 Secondary pulmonary alveolar proteinosis

ORPHA:440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

NKX2-1: Choreoathetosis, hypothyroidism, neonatal respiratory distress

 

Synonyms
  • Alias. Pulmonary alveolar proteinosis
  • Alias: Familial pulmonary fibrosis
  • Alias: Hereditary pulmonary alveolar proteinosis
  • Alias: Pulmonary alveolar proteinosis, Reunion island type
  • Alias; Hereditary pulmonary alveolar proteinosis with hepatic involvement
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 2U (MARS1)
  • Allelic: Dyskeratosis congenita, AD 2 (TERT)
  • Allelic: Dyskeratosis congenita, AD 3 (TINF2)
  • Allelic: Dyskeratosis congenita, AD 4 (RTEL1)
  • Allelic: Dyskeratosis congenita, AR 4 (TERT)
  • Allelic: Dyskeratosis congenita, AR 5 (RTEL1)
  • Allelic: Dyskeratosis congenita, AR 6 (PARN)
  • Allelic: Dyskeratosis congenita, XL (DKC1)
  • Allelic: Dyskeratosis congenita, autosomal dominant 6 (ACD)
  • Allelic: Dyskeratosis congenita, autosomal recessive 7 (ACD)
  • Allelic: Epilepsy idiopathic generalized, susceptibility to, 8 (CASR)
  • Allelic: Farber lipogranulomatosis (ASAH1) for DD
  • Allelic: Gaucher disease, perinatal lethal + types I, II, III, IIIC (GBA)
  • Allelic: Leukemia, acute myeloid (TERT)
  • Allelic: Lewy body dementia, susceptibility to (GBA)
  • Allelic: Melanoma, cutaneous malignant, 9 (TERT)
  • Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
  • Allelic: Revesz syndrome (TINF2)
  • Allelic: Spinal muscular atrophy with progressive myoclonic epilepsy (ASAH1)
  • Associated with dyskeratosis congenita + fibrosis (TINF2)
  • Choreoathetosis, hypothyroidism, neonatal respiratory distress associ. pulmonary fibrosis (NKX2-1)
  • Familial pulmonary fibrosis [panelapp] (ACD)
  • Familial pulmonary fibrosis [panelapp] (CASR)
  • Gaucher disease with associated pulmonary fibrosis (GBA)
  • Hermansky-Pudlak syndrome 2 (AP3B1)
  • Hyperparathyroidism, neonatal (CASR)
  • Hypocalcemia, AD (CASR)
  • Hypocalcemia, AD, with Bartter syndrome (CASR)
  • Hypocalciuric hypercalcemia, type I (CASR)
  • Interstitial lung + liver disease (MARS1)
  • Interstitial lung disease, nephrotic syndrome, epidermolysis bullosa, congenital (ITGA3)
  • Lysinuric protein intolerance (SLC7A7)
  • Niemann-Pick disease, type A + B (SMPD1)
  • Poikiloderma, hereditary fibrosing, tendon contractures, myopathy, pulmonary fibrosis (FAM111B)
  • Pulmonary Fibrosis + Hermansky-Pudlak syndrome (HPS1, HPS4)
  • Pulmonary alveolar microlithiasis (SLC34A2)
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (TERT)
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (RTEL1)
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 (PARN)
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 (ZCCHC8)
  • Rajab interstitial lung disease with brain calcifications 1 (FARSB)
  • Rajab interstitial lung disease with brain calcifications 2 (FARSA)
  • Severe early-onset pulmonary alveolar proteinosis due to MARS defic., Reunion island type [Orphan]
  • Surfactant metabolism dysfunction, pulmonary, 1 (SFTPB)
  • Surfactant metabolism dysfunction, pulmonary, 2 (SFTPC)
  • Surfactant metabolism dysfunction, pulmonary, 3 (ABCA3)
  • Surfactant metabolism dysfunction, pulmonary, 4 (CSF2RA)
  • Surfactant metabolism dysfunction, pulmonary, 5 (CSF2RB)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
  • YL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
J84.1

Bioinformatics and clinical interpretation

No text defined