MCID: BLD065
MIFTS: 19

Blue Diaper Syndrome

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

Aliases & Classifications for Blue Diaper Syndrome

MalaCards integrated aliases for Blue Diaper Syndrome:

Name: Blue Diaper Syndrome 58 77 54 60 74
Hypercalcemia, Familial, with Nephrocalcinosis and Indicanuria 58 54
Familial Hypercalcemia-Nephrocalcinosis-Indicanuria Syndrome 60
Drummond Syndrome 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive vs. x-linked


Classifications:

Orphanet: 60  
Inborn errors of metabolism


External Ids:

OMIM 58 211000
MESH via Orphanet 46 C536239
ICD10 via Orphanet 35 E70.8
UMLS via Orphanet 75 C0268478
Orphanet 60 ORPHA94086
MedGen 43 C0268478
SNOMED-CT via HPO 70 166702002 48638002 66931009
UMLS 74 C0268478

Summaries for Blue Diaper Syndrome

NIH Rare Diseases : 54 Blue diaper syndrome is a rare metabolic disorder characterized by problems in the absorption of the aminoacid tryptophan and blue urine stains on diapers. Symptoms typically include digestive problems, fever, irritability, failure to thrive, and visual problems. The abnormally high levels of calcium in the blood (hypercalcemia) may result in accumulation of calcium in the kidneys (nephrocalcinosis) leading to impaired kidney function and possible kidney failure. The bluish urine-stained diapers occur when intestinal bacteria break down excessive amounts of tryptophan, a nutrient of the diet, leading to increase of indican and related compounds in the urine (indicanuria). Although the exact nature of the biochemical defect remains uncertain, it is believed to be related to a defect in the intestinal absorption and transport of tryptophan. The defect in tryptophan absorption may be associated with mutations in the LAT2 and TAT1 genes. Inheritance is autosomal recessive or X-linked recessive. Children with blue diaper syndrome may be put on a diet that restricts their intake of calcium, protein, vitamin D, and tryptophan. Antibiotics may also be used to control intestinal infections. 

MalaCards based summary : Blue Diaper Syndrome, also known as hypercalcemia, familial, with nephrocalcinosis and indicanuria, is related to nephrocalcinosis. Affiliated tissues include kidney, and related phenotypes are nephrocalcinosis and hypercalcemia

Wikipedia : 77 Blue diaper syndrome is a rare, autosomal recessive metabolic disorder characterized in infants by... more...

Description from OMIM: 211000

Related Diseases for Blue Diaper Syndrome

Diseases related to Blue Diaper Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 nephrocalcinosis 10.0

Symptoms & Phenotypes for Blue Diaper Syndrome

Human phenotypes related to Blue Diaper Syndrome:

33
# Description HPO Frequency HPO Source Accession
1 nephrocalcinosis 33 HP:0000121
2 hypercalcemia 33 HP:0003072
3 abnormality of abdomen morphology 33 HP:0001438

Symptoms via clinical synopsis from OMIM:

58
Renal:
nephrocalcinosis

G I:
intestinal tryptophan transport defective

Lab:
hypercalcemia
indicanuria

Misc:
diapers colored bluish

Clinical features from OMIM:

211000

Drugs & Therapeutics for Blue Diaper Syndrome

Search Clinical Trials , NIH Clinical Center for Blue Diaper Syndrome

Genetic Tests for Blue Diaper Syndrome

Anatomical Context for Blue Diaper Syndrome

MalaCards organs/tissues related to Blue Diaper Syndrome:

42
Kidney

Publications for Blue Diaper Syndrome

Articles related to Blue Diaper Syndrome:

# Title Authors Year
1
Blue Diaper Syndrome and <i>PCSK1</i> Mutations. ( 29610180 )
2018
2
The ocular abnormalities of blue diaper syndrome. ( 1818237 )
1991
3
Fecal pseudomonas aeruginosa as a cause of the blue diaper syndrome. ( 4626127 )
1972
4
THE BLUE DIAPER SYNDROME: FAMILIAL HYPERCALCEMIA WITH NEPHROCALCINOSIS AND INDICANURIA; A NEW FAMILIAL DISEASE, WITH DEFINITION OF THE METABOLIC ABNORMALITY. ( 14246093 )
1964

Variations for Blue Diaper Syndrome

Expression for Blue Diaper Syndrome

Search GEO for disease gene expression data for Blue Diaper Syndrome.

Pathways for Blue Diaper Syndrome

GO Terms for Blue Diaper Syndrome

Sources for Blue Diaper Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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