MCID: PLL014
MIFTS: 18

Pellagra-Like Syndrome

Categories: Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Pellagra-Like Syndrome

MalaCards integrated aliases for Pellagra-Like Syndrome:

Name: Pellagra-Like Syndrome 56
Pellagra-Like Rash with Neurologic Manifestations 52
Pellagra Like Syndrome 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
pellagra-like syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Pellagra-Like Syndrome

MalaCards based summary : Pellagra-Like Syndrome, also known as pellagra-like rash with neurologic manifestations, is related to pellagra and celiac disease 1. Affiliated tissues include skin, and related phenotypes are cataract and global developmental delay

More information from OMIM: 260650

Related Diseases for Pellagra-Like Syndrome

Diseases in the Pellagra family:

Pellagra-Like Syndrome

Diseases related to Pellagra-Like Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pellagra 10.2
2 celiac disease 1 10.0
3 infective endocarditis 10.0
4 endocarditis 10.0

Symptoms & Phenotypes for Pellagra-Like Syndrome

Human phenotypes related to Pellagra-Like Syndrome:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 global developmental delay 31 HP:0001263
3 ataxia 31 HP:0001251
4 skin rash 31 HP:0000988
5 dysarthria 31 HP:0001260
6 diplopia 31 HP:0000651
7 confusion 31 HP:0001289

Symptoms via clinical synopsis from OMIM:

56
Neuro:
ataxia
dysarthria
diplopia
confusion
developmental retardation

Skin:
pellagra-like rash
red, scaly rash of face, upper chest, hands, and legs

Lab:
no aminoaciduria or indicanuria
no tryptophan malabsorption or tryptophanuria
impaired synthesis of quinolinic acid and nicotinamide nucleotides from tryptophan
defect in degradation of tryptophan

Eyes:
early cataracts

Misc:
clinical abnormalities clear with nicotinamide

Clinical features from OMIM:

260650

Drugs & Therapeutics for Pellagra-Like Syndrome

Search Clinical Trials , NIH Clinical Center for Pellagra-Like Syndrome

Genetic Tests for Pellagra-Like Syndrome

Anatomical Context for Pellagra-Like Syndrome

MalaCards organs/tissues related to Pellagra-Like Syndrome:

40
Skin

Publications for Pellagra-Like Syndrome

Articles related to Pellagra-Like Syndrome:

# Title Authors PMID Year
1
Lethal familial pellagra-like skin lesion associated with neurologic and developmental impairment and the development of cataracts. 56
4058988 1985
2
Familial pellagra-like skin rash with neurological manifestations. 56
6451201 1981
3
A 70-year-old man with isolated weight loss and a pellagra-like syndrome due to celiac disease. 61
10691045 1999
4
[Photosensitivity and disturbances of tryptophan metabolism (kynurenin pathway) (author's transl)]. 61
496211 1979
5
Pellagra-like syndrome associated with isoniazid therapy. 61
4168789 1967

Variations for Pellagra-Like Syndrome

Expression for Pellagra-Like Syndrome

Search GEO for disease gene expression data for Pellagra-Like Syndrome.

Pathways for Pellagra-Like Syndrome

GO Terms for Pellagra-Like Syndrome

Sources for Pellagra-Like Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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