SCOLIV
MCID: LVR033
MIFTS: 25

Liver Disease, Severe Congenital (SCOLIV)

Categories: Blood diseases, Bone diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Oral diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Liver Disease, Severe Congenital

MalaCards integrated aliases for Liver Disease, Severe Congenital:

Name: Liver Disease, Severe Congenital 57 5 38
Focad Deficiency 57
Scoliv 57

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy
death in infancy (in some patients)


Classifications:



Summaries for Liver Disease, Severe Congenital

OMIM®: 57 Severe congenital liver disease (SCOLIV) is an autosomal recessive disorder characterized by the onset of progressive hepatic dysfunction usually in the first years of life. Affected individuals show feeding difficulties with failure to thrive and features such as jaundice, hepatomegaly, and abdominal distension. Laboratory workup is consistent with hepatic insufficiency and may also show coagulation defects, anemia, or metabolic disturbances. Cirrhosis and hypernodularity are commonly observed on liver biopsy. Many patients die of liver failure in early childhood (Moreno Traspas et al., 2022). (619991) (Updated 08-Dec-2022)

MalaCards based summary: Liver Disease, Severe Congenital, is also known as focad deficiency. An important gene associated with Liver Disease, Severe Congenital is FOCAD (Focadhesin). Affiliated tissues include liver, thyroid and testis, and related phenotypes are failure to thrive and nystagmus

Related Diseases for Liver Disease, Severe Congenital

Symptoms & Phenotypes for Liver Disease, Severe Congenital

Human phenotypes related to Liver Disease, Severe Congenital:

30 (show top 50) (show all 97)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 30 Very rare (1%) HP:0001508
2 nystagmus 30 Very rare (1%) HP:0000639
3 hypotonia 30 Very rare (1%) HP:0001252
4 splenomegaly 30 Very rare (1%) HP:0001744
5 hepatomegaly 30 Very rare (1%) HP:0002240
6 depressed nasal bridge 30 Very rare (1%) HP:0005280
7 inguinal hernia 30 Very rare (1%) HP:0000023
8 delayed speech and language development 30 Very rare (1%) HP:0000750
9 umbilical hernia 30 Very rare (1%) HP:0001537
10 vomiting 30 Very rare (1%) HP:0002013
11 aminoaciduria 30 Very rare (1%) HP:0003355
12 cardiomegaly 30 Very rare (1%) HP:0001640
13 anemia 30 Very rare (1%) HP:0001903
14 ascites 30 Very rare (1%) HP:0001541
15 intrauterine growth retardation 30 Very rare (1%) HP:0001511
16 micrognathia 30 Very rare (1%) HP:0000347
17 recurrent otitis media 30 Very rare (1%) HP:0000403
18 hepatic steatosis 30 Very rare (1%) HP:0001397
19 elevated hepatic transaminase 30 Very rare (1%) HP:0002910
20 epicanthus 30 Very rare (1%) HP:0000286
21 irritability 30 Very rare (1%) HP:0000737
22 thrombocytopenia 30 Very rare (1%) HP:0001873
23 exocrine pancreatic insufficiency 30 Very rare (1%) HP:0001738
24 jaundice 30 Very rare (1%) HP:0000952
25 joint laxity 30 Very rare (1%) HP:0001388
26 patent ductus arteriosus 30 Very rare (1%) HP:0001643
27 hydronephrosis 30 Very rare (1%) HP:0000126
28 hyponatremia 30 Very rare (1%) HP:0002902
29 low levels of vitamin d 30 Very rare (1%) HP:0100512
30 proptosis 30 Very rare (1%) HP:0000520
31 cough 30 Very rare (1%) HP:0012735
32 hypospadias 30 Very rare (1%) HP:0000047
33 ventricular septal defect 30 Very rare (1%) HP:0001629
34 hypocalcemia 30 Very rare (1%) HP:0002901
35 recurrent urinary tract infections 30 Very rare (1%) HP:0000010
36 high forehead 30 Very rare (1%) HP:0000348
37 sepsis 30 Very rare (1%) HP:0100806
38 eczema 30 Very rare (1%) HP:0000964
39 hepatic failure 30 Very rare (1%) HP:0001399
40 hyperammonemia 30 Very rare (1%) HP:0001987
41 triangular face 30 Very rare (1%) HP:0000325
42 abnormality of coagulation 30 Very rare (1%) HP:0001928
43 plagiocephaly 30 Very rare (1%) HP:0001357
44 elevated alpha-fetoprotein 30 Very rare (1%) HP:0006254
45 low levels of vitamin e 30 Very rare (1%) HP:0100513
46 hyperbilirubinemia 30 Very rare (1%) HP:0002904
47 low levels of vitamin a 30 Very rare (1%) HP:0004905
48 metabolic acidosis 30 Very rare (1%) HP:0001942
49 blue nevus 30 Very rare (1%) HP:0100814
50 nail dystrophy 30 Very rare (1%) HP:0008404

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Other:
failure to thrive
intrauterine growth retardation
poor overall growth

Abdomen Liver:
hepatomegaly
hepatic failure
intrahepatic cholestasis
biliary hyperplasia
portal fibrosis
more
Abdomen Gastrointestinal:
vomiting
feeding difficulties
diarrhea
gastritis
malnutrition

Hematology:
anemia
thrombocytopenia
coagulation defects

Genitourinary Kidneys:
hydronephrosis

Laboratory Abnormalities:
hyperbilirubinemia
hypoalbuminemia
elevated liver function tests
increased ferritin
increased ammonia levels
more
Cardiovascular Heart:
congenital heart defects (in some patients)

Abdomen External Features:
abdominal distension

Genitourinary External Genitalia Male:
testicular hydrocele

Immunology:
milk allergies

Abdomen Spleen:
splenomegaly

Muscle Soft Tissue:
inguinal hernia
umbilical hernia
ascites

Metabolic Features:
hypoglycemia
metabolic acidosis

Skin Nails Hair Skin:
jaundice

Respiratory:
cough
respiratory problems (in some patients)

Respiratory Lung:
pneumonia
pulmonary edema

Head And Neck Face:
dysmorphic facial features, variable (in some patients)

Genitourinary:
genitourinary abnormalities (in some patients)

Endocrine Features:
thyroid abnormalities (in some patients)

Clinical features from OMIM®:

619991 (Updated 08-Dec-2022)

Drugs & Therapeutics for Liver Disease, Severe Congenital

Search Clinical Trials, NIH Clinical Center for Liver Disease, Severe Congenital

Genetic Tests for Liver Disease, Severe Congenital

Anatomical Context for Liver Disease, Severe Congenital

Organs/tissues related to Liver Disease, Severe Congenital:

MalaCards : Liver, Thyroid, Testis, Heart, Brain

Publications for Liver Disease, Severe Congenital

Articles related to Liver Disease, Severe Congenital:

# Title Authors PMID Year
1
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis. 62 57 5
35864190 2022

Variations for Liver Disease, Severe Congenital

ClinVar genetic disease variations for Liver Disease, Severe Congenital:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FOCAD NM_001375567.1(FOCAD):c.5004G>C (p.Lys1668Asn) SNV Pathogenic
1701018 GRCh37: 9:20988428-20988428
GRCh38: 9:20988429-20988429
2 FOCAD NM_001375567.1(FOCAD):c.2676dup (p.Trp893fs) DUP Pathogenic
1701019 GRCh37: 9:20907197-20907198
GRCh38: 9:20907198-20907199
3 FOCAD NM_001375567.1(FOCAD):c.583C>T (p.Arg195Ter) SNV Pathogenic
1701020 GRCh37: 9:20764956-20764956
GRCh38: 9:20764957-20764957
4 FOCAD NM_001375567.1(FOCAD):c.2587C>T (p.Arg863Ter) SNV Pathogenic
1701016 GRCh37: 9:20885191-20885191
GRCh38: 9:20885192-20885192
5 FOCAD NM_001375567.1(FOCAD):c.4343del (p.Leu1448fs) DEL Pathogenic
1701021 GRCh37: 9:20978418-20978418
GRCh38: 9:20978419-20978419
6 FOCAD NM_001375567.1(FOCAD):c.3694G>C (p.Ala1232Pro) SNV Pathogenic
1701017 GRCh37: 9:20948288-20948288
GRCh38: 9:20948289-20948289

Expression for Liver Disease, Severe Congenital

Search GEO for disease gene expression data for Liver Disease, Severe Congenital.

Pathways for Liver Disease, Severe Congenital

GO Terms for Liver Disease, Severe Congenital

Sources for Liver Disease, Severe Congenital

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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