FINCA
MCID: FBR097
MIFTS: 25

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 57 72 6
Finca Syndrome 57 72
Finca 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
fibrosis, neurodegeneration, and cerebral angiomatosis:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fibrosis, Neurodegeneration, and Cerebral Angiomatosis

UniProtKB/Swiss-Prot : 72 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 fibrosis of extraocular muscles, congenital, 1 and non-alcoholic fatty liver disease. An important gene associated with Fibrosis, Neurodegeneration, and Cerebral Angiomatosis is NHLRC2 (NHL Repeat Containing 2). Affiliated tissues include liver, brain and thymus, and related phenotypes are failure to thrive and tetraplegia

OMIM® : 57 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) (Updated 05-Apr-2021)

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 fibrosis of extraocular muscles, congenital, 1 10.2
2 non-alcoholic fatty liver disease 10.2
3 angiomatosis 10.2

Symptoms & Phenotypes for Fibrosis, Neurodegeneration, and Cerebral Angiomatosis

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

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 tetraplegia 31 HP:0002445
3 respiratory insufficiency 31 HP:0002093
4 global developmental delay 31 HP:0001263
5 hepatomegaly 31 HP:0002240
6 cardiomegaly 31 HP:0001640
7 strabismus 31 HP:0000486
8 irritability 31 HP:0000737
9 atelectasis 31 HP:0100750
10 dystonia 31 HP:0001332
11 reticulocytosis 31 HP:0001923
12 hypoplasia of the corpus callosum 31 HP:0002079
13 feeding difficulties 31 HP:0011968
14 recurrent infections 31 HP:0002719
15 tachypnea 31 HP:0002789
16 diarrhea 31 HP:0002014
17 brain atrophy 31 HP:0012444
18 muscular hypotonia of the trunk 31 HP:0008936
19 elliptocytosis 31 HP:0004445
20 anisocytosis 31 HP:0011273
21 decreased mean corpuscular volume 31 HP:0025066
22 chronic hemolytic anemia 31 HP:0004870
23 hepatocellular necrosis 31 HP:0001404
24 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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
Respiratory:
recurrent infections

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

Hematology:
reticulocytosis
anisocytosis
poikilocytosis
macrocytosis
microcytosis
more
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 (Updated 05-Apr-2021)

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:

40
Liver, Brain, Thymus

Publications for Fibrosis, Neurodegeneration, and Cerebral Angiomatosis

Articles related to Fibrosis, Neurodegeneration, and Cerebral Angiomatosis:

(show all 26)
# Title Authors PMID Year
1
NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease. 57 6 61
29423877 2018
2
Biallelic mutations in human NHLRC2 enhance myofibroblast differentiation in FINCA disease. 6 61
30239752 2018
3
Structural analysis of human NHLRC2, mutations of which are associated with FINCA disease. 6 61
30138417 2018
4
Vascular plants dataset of the herbarium (HSS) of Agrarian Research Institute Finca "La Orden-Valdesequera" (CICYTEX), Extremadura, Spain. 61
33510575 2021
5
Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA disease. 61
33297935 2020
6
Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome. 61
32435055 2020
7
Documenting a cultural landscape using point-cloud 3d models obtained with geomatic integration techniques. The case of the El Encín atomic garden, Madrid (Spain). 61
32579596 2020
8
Epizoic Fauna Survey on Phyllostomid Bats (Chiroptera: Phyllostomidae) in a Shaded Coffee Plantation of Southeastern Chiapas, Mexico. 61
29186487 2018
9
Behavioral responses of three armadillo species (Mammalia: Xenarthra) to an environmental enrichment program in Villavicencio, Colombia. 61
27272640 2016
10
The early colonial atlantic world: New insights on the African Diaspora from isotopic and ancient DNA analyses of a multiethnic 15th-17th century burial population from the Canary Islands, Spain. 61
26458007 2016
11
Species diversity and activity of insectivorous bats in three habitats in La Virgen de Sarapiquí, Costa Rica. 61
25412526 2014
12
Species composition and seasonal abundance of sandflies (Diptera: Psychodidae: Phlebotominae) in coffee agroecosystems. 61
24271002 2014
13
Hypothenemus hampei (Coleoptera: Curculionidae) and its interactions with Azteca instabilis and Pheidole synanthropica (Hymenoptera: Formicidae) in a shade coffee agroecosystem. 61
24331603 2013
14
Successional stage, fragmentation and exposure to extraction influence the population structure of Euterpe precatoria (Arecaeae). 61
24027932 2013
15
[Phorophyte specificity and microenvironmental preferences of corticolous lichens in five phorophyte species from premontane forest of Finca Zíngara, Cali, Colombia)]. 61
23894950 2012
16
Applying the ecosystem approach to select priority areas for forest landscape restoration in the Yungas, Northwestern Argentina. 61
20814677 2010
17
[Not Available]. 61
23040040 2008
18
Forest clearing in the Ecuadorian Amazon: A study of patterns over space and time. 61
20703367 2007
19
Socioeconomic drivers of deforestation in the Northern Ecuadorian Amazon. 61
16555027 2006
20
[Physical, psychological, emotional, and sexual violence during pregnancy as a reproductive-risk predictor of low birthweight in Costa Rica]. 61
14577929 2003
21
USAID and FINCA: helping women in Tanzania. 61
12296252 2000
22
Detection of Onchocerca volvulus DNA in pools of wild-caught Simulium ochraceum by use of the polymerase chain reaction. 61
9713545 1998
23
Epidemiology and Control of Citrus Greasy Spot on Valencia Orange in the Humid Tropics of Costa Rica. 61
30861952 1997
24
The effects of repetitive community-wide ivermectin treatment on transmission of Onchocerca volvulus in Guatemala. 61
1503186 1992
25
Patterns of sandfly distribution in tropical forest: a causal hypothesis. 61
1421497 1992
26
Sandfly distribution and abundance in a tropical rain forest. 61
1773118 1991

Variations for Fibrosis, Neurodegeneration, and Cerebral Angiomatosis

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NHLRC2 NM_198514.4(NHLRC2):c.442G>T (p.Asp148Tyr) SNV Pathogenic 599377 rs201701259 GRCh37: 10:115636390-115636390
GRCh38: 10:113876631-113876631
2 NHLRC2 NM_198514.4(NHLRC2):c.601_602del (p.Arg201fs) Deletion Pathogenic 599378 rs757267294 GRCh37: 10:115636549-115636550
GRCh38: 10:113876790-113876791
3 NHLRC2 NM_198514.4(NHLRC2):c.1348G>T (p.Val450Leu) SNV Uncertain significance 1027927 GRCh37: 10:115661633-115661633
GRCh38: 10:113901874-113901874

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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