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 56
Berlin Syndrome 58 71
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome 58
Ectodermal Dysplasia, Berlin Type 58

Characteristics:

Orphanet epidemiological data:

58
leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 246500
ICD10 via Orphanet 33 Q82.4
UMLS via Orphanet 72 C1855504
Orphanet 58 ORPHA1816
MedGen 41 C1855504
UMLS 71 C0406729

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

More information 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 12.5

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

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

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000823
4 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
5 delayed eruption of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000684
6 generalized hirsutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0002230
7 depressed nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000457
8 hypospadias 58 31 hallmark (90%) Very frequent (99-80%) HP:0000047
9 irregular hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007400
10 decreased fertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000144
11 nephrolithiasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000787
12 generalized hypopigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007513
13 hypodontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000668
14 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
15 shagreen patch 58 31 hallmark (90%) Very frequent (99-80%) HP:0009721
16 abnormal eyebrow morphology 31 hallmark (90%) HP:0000534
17 growth delay 31 HP:0001510
18 abnormality of the eyebrow 58 Very frequent (99-80%)
19 hypotrichosis 31 HP:0001006

Symptoms via clinical synopsis from OMIM:

56
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:

40
Skin

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

Articles related to Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis:

# Title Authors PMID Year
1
Congenital generalized melanoleucoderma associated with hypodontia, hypotrichosis, stunted growth and mental retardation occurring in two brothers and two sisters. 56
13867923 1961

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
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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