MCID: BLD065
MIFTS: 19

Blue Diaper Syndrome

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

Aliases & Classifications for Blue Diaper Syndrome

MalaCards integrated aliases for Blue Diaper Syndrome:

Name: Blue Diaper Syndrome 57 76 53 59 73
Hypercalcemia, Familial, with Nephrocalcinosis and Indicanuria 57 53
Familial Hypercalcemia-Nephrocalcinosis-Indicanuria Syndrome 59
Drummond Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive vs. x-linked


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 211000
Orphanet 59 ORPHA94086
MESH via Orphanet 45 C536239
UMLS via Orphanet 74 C0268478
ICD10 via Orphanet 34 E70.8
MedGen 42 C0268478
SNOMED-CT via HPO 69 48638002 166702002 66931009
UMLS 73 C0268478

Summaries for Blue Diaper Syndrome

NIH Rare Diseases : 53 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 abnormality of abdomen morphology

Wikipedia : 76 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 9.9

Symptoms & Phenotypes for Blue Diaper Syndrome

Symptoms via clinical synopsis from OMIM:

57
Renal:
nephrocalcinosis

GI:
intestinal tryptophan transport defective

Lab:
hypercalcemia
indicanuria

Misc:
diapers colored bluish


Clinical features from OMIM:

211000

Human phenotypes related to Blue Diaper Syndrome:

32
# Description HPO Frequency HPO Source Accession
1 nephrocalcinosis 32 HP:0000121
2 abnormality of abdomen morphology 32 HP:0001438
3 hypercalcemia 32 HP:0003072

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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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