MCID: LKM069
MIFTS: 17

Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis

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

Aliases & Classifications for Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia,...

MalaCards integrated aliases for Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis:

Name: Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 58
Berlin Syndrome 60 74
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome 60
Ectodermal Dysplasia, Berlin Type 60

Characteristics:

Orphanet epidemiological data:

60
leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia,...

MalaCards based summary : Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis, also known as berlin syndrome, is related to ectodermal dysplasia berlin type. Affiliated tissues include skin, and related phenotypes are intellectual disability and short stature

Description from OMIM: 246500

Related Diseases for Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia,...

Diseases related to Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia berlin type 12.4

Symptoms & Phenotypes for Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia,...

Human phenotypes related to Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis:

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
3 delayed puberty 60 33 hallmark (90%) Very frequent (99-80%) HP:0000823
4 palmoplantar keratoderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000982
5 delayed eruption of teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000684
6 generalized hirsutism 60 33 hallmark (90%) Very frequent (99-80%) HP:0002230
7 depressed nasal ridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000457
8 hypospadias 60 33 hallmark (90%) Very frequent (99-80%) HP:0000047
9 irregular hyperpigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007400
10 decreased fertility 60 33 hallmark (90%) Very frequent (99-80%) HP:0000144
11 nephrolithiasis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000787
12 generalized hypopigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007513
13 hypoplasia of penis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008736
14 hypodontia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000668
15 shagreen patch 60 33 hallmark (90%) Very frequent (99-80%) HP:0009721
16 abnormal eyebrow morphology 33 hallmark (90%) HP:0000534
17 growth delay 33 HP:0001510
18 abnormality of the eyebrow 60 Very frequent (99-80%)
19 hypotrichosis 33 HP:0001006

Symptoms via clinical synopsis from OMIM:

58
Skin:
hypotrichosis
congenital generalized melanoleukoderma

Growth:
growth retardation

Teeth:
hypodontia

Neuro:
mental retardation

Clinical features from OMIM:

246500

Drugs & Therapeutics for Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia,...

Search Clinical Trials , NIH Clinical Center for Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis

Genetic Tests for Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia,...

Anatomical Context for Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia,...

MalaCards organs/tissues related to Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis:

42
Skin

Publications for Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia,...

Variations for Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia,...

Expression for Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia,...

Search GEO for disease gene expression data for Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis.

Pathways for Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia,...

GO Terms for Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia,...

Sources for Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia,...

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
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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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