Liver Disease, Severe Congenital disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Liver diseases Gastrointestinal diseases Endocrine diseases Respiratory diseases Bone diseases Nephrological diseases Oral diseases Blood diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 619991

SNOMED-CT via HPO ⁶⁹ 13920009 15911003 162294008 more

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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

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Related Diseases for Liver Disease, Severe Congenital

Diseases in the Liver Disease family:

Liver Failure, Infantile, Transient	Infantile Liver Failure Syndrome 1
Infantile Liver Failure Syndrome 2	Infantile Liver Failure Syndrome 3
Liver Disease, Severe Congenital	Infantile Liver Failure Syndrome
Acute Liver Failure

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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	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)

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Drugs & Therapeutics for Liver Disease, Severe Congenital

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

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Genetic Tests for Liver Disease, Severe Congenital

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Anatomical Context for Liver Disease, Severe Congenital

Organs/tissues related to Liver Disease, Severe Congenital:

MalaCards : Liver, Thyroid, Testis, Heart, Brain

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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	Moreno Traspas R...Reversade B	35864190	2022

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Genes for Liver Disease, Severe Congenital

Genes related to Liver Disease, Severe Congenital (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FOCAD	Focadhesin	Protein Coding	900	Molecular basis known ⁵⁷ Pathogenic ⁵	35864190

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Variations for Liver Disease, Severe Congenital

ClinVar genetic disease variations for Liver Disease, Severe Congenital:

⁵

#	Gene	Name	Type	Significance	ClinVarId	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

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Expression for Liver Disease, Severe Congenital

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

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Pathways for Liver Disease, Severe Congenital

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GO Terms for Liver Disease, Severe Congenital

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Sources for Liver Disease, Severe Congenital

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⁵¹ NIH Clinical Center

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

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⁷⁵ Wikipedia

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	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

Liver Disease, Severe Congenital (SCOLIV)

Aliases & Classifications for Liver Disease, Severe Congenital

MalaCards integrated aliases for Liver Disease, Severe Congenital:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Liver Disease, Severe Congenital

Related Diseases for Liver Disease, Severe Congenital

Diseases in the Liver Disease family:

Symptoms & Phenotypes for Liver Disease, Severe Congenital

Human phenotypes related to Liver Disease, Severe Congenital:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics 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:

Publications for Liver Disease, Severe Congenital

Articles related to Liver Disease, Severe Congenital:

Genes for Liver Disease, Severe Congenital

Genes related to Liver Disease, Severe Congenital (1 elite genes):

Variations for Liver Disease, Severe Congenital

ClinVar genetic disease variations for Liver Disease, Severe Congenital:

Expression for Liver Disease, Severe Congenital

Pathways for Liver Disease, Severe Congenital

GO Terms for Liver Disease, Severe Congenital

Sources for Liver Disease, Severe Congenital