MCID: HYP718
MIFTS: 20

Hyperuricemic Nephropathy, Familial Juvenile, 4

Categories: Genetic diseases, Nephrological diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Hyperuricemic Nephropathy, Familial Juvenile, 4

MalaCards integrated aliases for Hyperuricemic Nephropathy, Familial Juvenile, 4:

Name: Hyperuricemic Nephropathy, Familial Juvenile, 4 57 75 29 6
Hnfj4 57 75
Familial Juvenile Hyperuricemic Nephropathy 4 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
onset in childhood
two unrelated families have been reported (last curated july 2016)


HPO:

32
hyperuricemic nephropathy, familial juvenile, 4:
Onset and clinical course progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hyperuricemic Nephropathy, Familial Juvenile, 4

UniProtKB/Swiss-Prot : 75 Familial juvenile hyperuricemic nephropathy 4: An autosomal dominant renal disorder characterized by progressive chronic kidney disease, anemia, elevated serum creatinine levels, and hyperuricemia.

MalaCards based summary : Hyperuricemic Nephropathy, Familial Juvenile, 4, is also known as hnfj4. An important gene associated with Hyperuricemic Nephropathy, Familial Juvenile, 4 is SEC61A1 (Sec61 Translocon Alpha 1 Subunit). Affiliated tissues include kidney, and related phenotypes are focal segmental glomerulosclerosis and renal cyst

Description from OMIM: 617056

Related Diseases for Hyperuricemic Nephropathy, Familial Juvenile, 4

Symptoms & Phenotypes for Hyperuricemic Nephropathy, Familial Juvenile, 4

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
nephropathy
chronic kidney disease
interstitial fibrosis
focal glomerulosclerosis
atrophic tubules
more
Growth Other:
intrauterine growth retardation (family a)
poor postnatal growth (family a)

Neurologic Central Nervous System:
cognitive impairment, mild (family a)

Immunology:
neutropenia (family b)
recurrent infections in childhood (family b)

Growth Height:
short stature (family a)

Skeletal Limbs:
gout (family b)

Hematology:
anemia, congenital

Laboratory Abnormalities:
hyperuricemia, mild
decreased urinary uromodulin (family b)


Clinical features from OMIM:

617056

Human phenotypes related to Hyperuricemic Nephropathy, Familial Juvenile, 4:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 focal segmental glomerulosclerosis 32 HP:0000097
2 renal cyst 32 HP:0000107
3 nephropathy 32 HP:0000112
4 intrauterine growth retardation 32 HP:0001511
5 neutropenia 32 HP:0001875
6 anemia 32 HP:0001903
7 gout 32 HP:0001997
8 short stature 32 HP:0004322
9 chronic kidney disease 32 HP:0012622
10 cognitive impairment 32 HP:0100543

Drugs & Therapeutics for Hyperuricemic Nephropathy, Familial Juvenile, 4

Search Clinical Trials , NIH Clinical Center for Hyperuricemic Nephropathy, Familial Juvenile, 4

Genetic Tests for Hyperuricemic Nephropathy, Familial Juvenile, 4

Genetic tests related to Hyperuricemic Nephropathy, Familial Juvenile, 4:

# Genetic test Affiliating Genes
1 Hyperuricemic Nephropathy, Familial Juvenile, 4 29 SEC61A1

Anatomical Context for Hyperuricemic Nephropathy, Familial Juvenile, 4

MalaCards organs/tissues related to Hyperuricemic Nephropathy, Familial Juvenile, 4:

41
Kidney

Publications for Hyperuricemic Nephropathy, Familial Juvenile, 4

Variations for Hyperuricemic Nephropathy, Familial Juvenile, 4

UniProtKB/Swiss-Prot genetic disease variations for Hyperuricemic Nephropathy, Familial Juvenile, 4:

75
# Symbol AA change Variation ID SNP ID
1 SEC61A1 p.Val67Gly VAR_077059 rs752745051
2 SEC61A1 p.Thr185Ala VAR_077060 rs879255648

ClinVar genetic disease variations for Hyperuricemic Nephropathy, Familial Juvenile, 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SEC61A1 NM_013336.3(SEC61A1): c.553A> G (p.Thr185Ala) single nucleotide variant Pathogenic rs879255648 GRCh37 Chromosome 3, 127779441: 127779441
2 SEC61A1 NM_013336.3(SEC61A1): c.553A> G (p.Thr185Ala) single nucleotide variant Pathogenic rs879255648 GRCh38 Chromosome 3, 128060598: 128060598
3 SEC61A1 NM_013336.3(SEC61A1): c.200T> G (p.Val67Gly) single nucleotide variant Pathogenic rs752745051 GRCh37 Chromosome 3, 127774574: 127774574
4 SEC61A1 NM_013336.3(SEC61A1): c.200T> G (p.Val67Gly) single nucleotide variant Pathogenic rs752745051 GRCh38 Chromosome 3, 128055731: 128055731

Expression for Hyperuricemic Nephropathy, Familial Juvenile, 4

Search GEO for disease gene expression data for Hyperuricemic Nephropathy, Familial Juvenile, 4.

Pathways for Hyperuricemic Nephropathy, Familial Juvenile, 4

GO Terms for Hyperuricemic Nephropathy, Familial Juvenile, 4

Sources for Hyperuricemic Nephropathy, Familial Juvenile, 4

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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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55 Novoseek
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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