FINCA
MCID: FBR097
MIFTS: 22

Fibrosis, Neurodegeneration, and Cerebral Angiomatosis (FINCA)

Categories: Genetic diseases

Aliases & Classifications for Fibrosis, Neurodegeneration, and Cerebral Angiomatosis

MalaCards integrated aliases for Fibrosis, Neurodegeneration, and Cerebral Angiomatosis:

Name: Fibrosis, Neurodegeneration, and Cerebral Angiomatosis 58 76 6
Finca Syndrome 58 76
Finca 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms at 2 months of age
death in second year of life due to respiratory failure


Classifications:



Summaries for Fibrosis, Neurodegeneration, and Cerebral Angiomatosis

UniProtKB/Swiss-Prot : 76 Fibrosis, neurodegeneration, and cerebral angiomatosis: An autosomal recessive, early-onset and fatal disorder clinically characterized by progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic hemolytic anemia and transient liver dysfunction. Death occurs in the first years of life due to respiratory failure. Post-mortem neuropathological examination reveals increased angiomatosis-like leptomeningeal, cortical and superficial white matter vascularisation and congestion, vacuolar degeneration and myelin loss in white matter, as well as neuronal degeneration. Interstitial fibrosis and granuloma- like lesions are observed in the lungs. Hepatomegaly, steatosis and collagen accumulation are detected in the liver.

MalaCards based summary : Fibrosis, Neurodegeneration, and Cerebral Angiomatosis, also known as finca syndrome, is related to onchocerciasis. An important gene associated with Fibrosis, Neurodegeneration, and Cerebral Angiomatosis is NHLRC2 (NHL Repeat Containing 2). Affiliated tissues include lung, liver and brain, and related phenotypes are seizures and global developmental delay

OMIM : 58 Fibrosis, neurodegeneration, and cerebral angiomatosis is characterized by severe progressive cerebropulmonary symptoms, resulting in death in infancy from respiratory failure. Features include malabsorption, progressive growth failure, recurrent infections, chronic hemolytic anemia, and transient liver dysfunction. Neuropathology shows increased angiomatosis-like leptomeningeal, cortical, and superficial white matter vascularization and congestion, vacuolar degeneration and myelin loss in white matter, as well as neuronal degeneration. Interstitial fibrosis and granuloma-like lesions are seen in the lungs, and there is hepatomegaly with steatosis and collagen accumulation (Uusimaa et al., 2018). (618278)

Related Diseases for Fibrosis, Neurodegeneration, and Cerebral Angiomatosis

Diseases related to Fibrosis, Neurodegeneration, and Cerebral Angiomatosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 onchocerciasis 10.1

Symptoms & Phenotypes for Fibrosis, Neurodegeneration, and Cerebral Angiomatosis

Human phenotypes related to Fibrosis, Neurodegeneration, and Cerebral Angiomatosis:

33 (show all 17)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 global developmental delay 33 HP:0001263
3 hepatomegaly 33 HP:0002240
4 irritability 33 HP:0000737
5 feeding difficulties 33 HP:0011968
6 strabismus 33 HP:0000486
7 dystonia 33 HP:0001332
8 atelectasis 33 HP:0100750
9 chronic hemolytic anemia 33 HP:0004870
10 reticulocytosis 33 HP:0001923
11 diarrhea 33 HP:0002014
12 hypoplasia of the corpus callosum 33 HP:0002079
13 tachypnea 33 HP:0002789
14 muscular hypotonia of the trunk 33 HP:0008936
15 poikilocytosis 33 HP:0004447
16 anisocytosis 33 HP:0011273
17 decreased mean corpuscular volume 33 HP:0025066

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
irritability
dystonia
developmental delay
thin corpus callosum
more
Cardiovascular Heart:
cardiomegaly

Respiratory Lung:
atelectasis
tachypnea
interstitial fibrosis
bullae
progressive respiratory insufficiency
more
Hematology:
reticulocytosis
poikilocytosis
anisocytosis
macrocytosis
microcytosis
more
Growth Weight:
poor weight gain

Immunology:
atrophic thymus

Growth Other:
progressive growth failure

Abdomen Liver:
hepatomegaly
transient hepatic dysfunction (during viral infections)
microvesicular steatosis, widespread
focal hepatocellular necrosis

Head And Neck Eyes:
strabismus
reduced vision
poor visual contact
increased latencies on visual evoked potentials
giant responses on visual evoked potentials

Respiratory:
recurrent infections

Abdomen Gastrointestinal:
diarrhea
feeding problems

Muscle Soft Tissue:
reduced muscle mass
thin subcutis
variable muscle tone

Genitourinary Kidneys:
increased cortical echogenicity
atrophic adrenal glands
transient renal failure (during viral infections)
hypoechogenic outer zone

Skin Nails Hair Skin:
icterus, intermittent

Clinical features from OMIM:

618278

Drugs & Therapeutics for Fibrosis, Neurodegeneration, and Cerebral Angiomatosis

Search Clinical Trials , NIH Clinical Center for Fibrosis, Neurodegeneration, and Cerebral Angiomatosis

Genetic Tests for Fibrosis, Neurodegeneration, and Cerebral Angiomatosis

Anatomical Context for Fibrosis, Neurodegeneration, and Cerebral Angiomatosis

MalaCards organs/tissues related to Fibrosis, Neurodegeneration, and Cerebral Angiomatosis:

42
Lung, Liver, Brain, Thymus, Adrenal Gland

Publications for Fibrosis, Neurodegeneration, and Cerebral Angiomatosis

Articles related to Fibrosis, Neurodegeneration, and Cerebral Angiomatosis:

# Title Authors Year
1
NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease. ( 29423877 )
2018
2
Structural analysis of human NHLRC2, mutations of which are associated with FINCA disease. ( 30138417 )
2018
3
Biallelic mutations in human NHLRC2 enhance myofibroblast differentiation in FINCA disease. ( 30239752 )
2018
4
USAID and FINCA: helping women in Tanzania. ( 12296252 )
2000

Variations for Fibrosis, Neurodegeneration, and Cerebral Angiomatosis

ClinVar genetic disease variations for Fibrosis, Neurodegeneration, and Cerebral Angiomatosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NHLRC2 NM_198514.4(NHLRC2): c.442G> T (p.Asp148Tyr) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 113876631: 113876631
2 NHLRC2 NM_198514.4(NHLRC2): c.442G> T (p.Asp148Tyr) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 115636390: 115636390
3 NHLRC2 NM_198514.4(NHLRC2): c.601_602delAG (p.Arg201Glyfs) deletion Pathogenic GRCh37 Chromosome 10, 115636549: 115636550
4 NHLRC2 NM_198514.4(NHLRC2): c.601_602delAG (p.Arg201Glyfs) deletion Pathogenic GRCh38 Chromosome 10, 113876790: 113876791

Expression for Fibrosis, Neurodegeneration, and Cerebral Angiomatosis

Search GEO for disease gene expression data for Fibrosis, Neurodegeneration, and Cerebral Angiomatosis.

Pathways for Fibrosis, Neurodegeneration, and Cerebral Angiomatosis

GO Terms for Fibrosis, Neurodegeneration, and Cerebral Angiomatosis

Sources for Fibrosis, Neurodegeneration, and Cerebral Angiomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....