MCID: VTL010
MIFTS: 10

Vitiligo, Progressive, with Mental Retardation and Urethral Duplication

Categories: Mental diseases, Neuronal diseases

Aliases & Classifications for Vitiligo, Progressive, with Mental Retardation and Urethral...

MalaCards integrated aliases for Vitiligo, Progressive, with Mental Retardation and Urethral Duplication:

Name: Vitiligo, Progressive, with Mental Retardation and Urethral Duplication 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
vitiligo, progressive, with mental retardation and urethral duplication:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset childhood onset


Classifications:



Summaries for Vitiligo, Progressive, with Mental Retardation and Urethral...

MalaCards based summary : Vitiligo, Progressive, with Mental Retardation and Urethral Duplication Related phenotypes are intellectual disability and global developmental delay

More information from OMIM: 277465

Related Diseases for Vitiligo, Progressive, with Mental Retardation and Urethral...

Symptoms & Phenotypes for Vitiligo, Progressive, with Mental Retardation and Urethral...

Human phenotypes related to Vitiligo, Progressive, with Mental Retardation and Urethral Duplication:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 global developmental delay 31 HP:0001263
3 abnormality of metabolism/homeostasis 31 HP:0001939
4 growth delay 31 HP:0001510
5 high, narrow palate 31 HP:0002705
6 convex nasal ridge 31 HP:0000444
7 distal urethral duplication 31 HP:0008706
8 progressive vitiligo 31 HP:0005602

Symptoms via clinical synopsis from OMIM:

56
H E E N T:
high, narrow palate
beaked nose

Misc:
childhood onset

Growth:
retarded growth

Lab:
no chromosomal or immunologic defects

G U:
distal urethral duplication

Skin:
progressive vitiligo

Neuro:
retarded psychomotor development

Clinical features from OMIM:

277465

Drugs & Therapeutics for Vitiligo, Progressive, with Mental Retardation and Urethral...

Search Clinical Trials , NIH Clinical Center for Vitiligo, Progressive, with Mental Retardation and Urethral Duplication

Genetic Tests for Vitiligo, Progressive, with Mental Retardation and Urethral...

Anatomical Context for Vitiligo, Progressive, with Mental Retardation and Urethral...

Publications for Vitiligo, Progressive, with Mental Retardation and Urethral...

Articles related to Vitiligo, Progressive, with Mental Retardation and Urethral Duplication:

# Title Authors PMID Year
1
Progressive vitiligo, mental retardation, facial dysmorphism, and urethral duplication without chromosomal breakage or immunodeficiency. 56
1518029 1992

Variations for Vitiligo, Progressive, with Mental Retardation and Urethral...

Expression for Vitiligo, Progressive, with Mental Retardation and Urethral...

Search GEO for disease gene expression data for Vitiligo, Progressive, with Mental Retardation and Urethral Duplication.

Pathways for Vitiligo, Progressive, with Mental Retardation and Urethral...

GO Terms for Vitiligo, Progressive, with Mental Retardation and Urethral...

Sources for Vitiligo, Progressive, with Mental Retardation and Urethral...

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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