ADTKD5
MCID: TBL034
MIFTS: 21

Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 (ADTKD5)

Categories: Blood diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Tubulointerstitial Kidney Disease, Autosomal Dominant, 5

MalaCards integrated aliases for Tubulointerstitial Kidney Disease, Autosomal Dominant, 5:

Name: Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 57
Hyperuricemic Nephropathy, Familial Juvenile, 4 57 73 29 6
Hnfj4 57 73
Hyperuricemic Nephropathy, Familial Juvenile, 4; Hnfj4 57
Familial Juvenile Hyperuricemic Nephropathy 4 73
Adtkd5 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

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


HPO:

31
tubulointerstitial kidney disease, autosomal dominant, 5:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:



Summaries for Tubulointerstitial Kidney Disease, Autosomal Dominant, 5

OMIM® : 57 Autosomal dominant tubulointerstitial kidney disease-5 (ADTKD5) is characterized by the onset of progressive chronic renal disease in the first decades of life. Mild hyperuricemia may be present, but gout, hypertension, and proteinuria are usually absent. The disease may be associated with anemia or neutropenia. Some patients may have additional findings, including poor overall growth and impaired cognitive function. Renal biopsy shows tubulointerstitial abnormalities with atrophic tubules and fibrosis; secondary glomerular abnormalities and simple cysts may also be present (summary by Bolar et al., 2016). For a discussion of genetic heterogeneity and revised nomenclature of ADTKD, see ADTKD1 (162000). (617056) (Updated 05-Mar-2021)

MalaCards based summary : Tubulointerstitial Kidney Disease, Autosomal Dominant, 5, is also known as hyperuricemic nephropathy, familial juvenile, 4. An important gene associated with Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 is SEC61A1 (SEC61 Translocon Subunit Alpha 1). Affiliated tissues include kidney, and related phenotypes are short stature and cognitive impairment

UniProtKB/Swiss-Prot : 73 Familial juvenile hyperuricemic nephropathy 4: An autosomal dominant renal disorder characterized by progressive chronic kidney disease, anemia, elevated serum creatinine levels, and hyperuricemia.

Related Diseases for Tubulointerstitial Kidney Disease, Autosomal Dominant, 5

Symptoms & Phenotypes for Tubulointerstitial Kidney Disease, Autosomal Dominant, 5

Human phenotypes related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 5:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 short stature 31 HP:0004322
2 cognitive impairment 31 HP:0100543
3 nephropathy 31 HP:0000112
4 anemia 31 HP:0001903
5 hyperuricemia 31 HP:0002149
6 intrauterine growth retardation 31 HP:0001511
7 neutropenia 31 HP:0001875
8 gout 31 HP:0001997
9 recurrent infections 31 HP:0002719
10 renal cyst 31 HP:0000107
11 chronic kidney disease 31 HP:0012622
12 focal segmental glomerulosclerosis 31 HP:0000097
13 vascular dilatation 31 HP:0002617

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

Drugs & Therapeutics for Tubulointerstitial Kidney Disease, Autosomal Dominant, 5

Search Clinical Trials , NIH Clinical Center for Tubulointerstitial Kidney Disease, Autosomal Dominant, 5

Genetic Tests for Tubulointerstitial Kidney Disease, Autosomal Dominant, 5

Genetic tests related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 5:

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

Anatomical Context for Tubulointerstitial Kidney Disease, Autosomal Dominant, 5

MalaCards organs/tissues related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 5:

40
Kidney

Publications for Tubulointerstitial Kidney Disease, Autosomal Dominant, 5

Articles related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 5:

# Title Authors PMID Year
1
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia. 57 6
27392076 2016

Variations for Tubulointerstitial Kidney Disease, Autosomal Dominant, 5

ClinVar genetic disease variations for Tubulointerstitial Kidney Disease, Autosomal Dominant, 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SEC61A1 NM_013336.4(SEC61A1):c.200T>G (p.Val67Gly) SNV Pathogenic 253147 rs752745051 3:127774574-127774574 3:128055731-128055731
2 SEC61A1 NM_013336.4(SEC61A1):c.553A>G (p.Thr185Ala) SNV Pathogenic 253146 rs879255648 3:127779441-127779441 3:128060598-128060598

UniProtKB/Swiss-Prot genetic disease variations for Tubulointerstitial Kidney Disease, Autosomal Dominant, 5:

73
# Symbol AA change Variation ID SNP ID
1 SEC61A1 p.Val67Gly VAR_077059 rs752745051
2 SEC61A1 p.Thr185Ala VAR_077060 rs879255648

Expression for Tubulointerstitial Kidney Disease, Autosomal Dominant, 5

Search GEO for disease gene expression data for Tubulointerstitial Kidney Disease, Autosomal Dominant, 5.

Pathways for Tubulointerstitial Kidney Disease, Autosomal Dominant, 5

GO Terms for Tubulointerstitial Kidney Disease, Autosomal Dominant, 5

Sources for Tubulointerstitial Kidney Disease, Autosomal Dominant, 5

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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