MCID: LCH010
MIFTS: 21

Lichtenstein Syndrome

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Lichtenstein Syndrome

MalaCards integrated aliases for Lichtenstein Syndrome:

Name: Lichtenstein Syndrome 56 52 58 71
Neutropenia Immunoglobulin Deficiency Peculiar Facies and Bony Anomalies 52

Characteristics:

Orphanet epidemiological data:

58
lichtenstein syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
based on 1 report of monozygotic twins (last curated may 2014)


HPO:

31
lichtenstein syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


Summaries for Lichtenstein Syndrome

MalaCards based summary : Lichtenstein Syndrome, also known as neutropenia immunoglobulin deficiency peculiar facies and bony anomalies, is related to graves disease 1 and fibrous dysplasia. Affiliated tissues include skin, and related phenotypes are recurrent respiratory infections and carious teeth

More information from OMIM: 246550

Related Diseases for Lichtenstein Syndrome

Diseases related to Lichtenstein Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 graves disease 1 9.9
2 fibrous dysplasia 9.9
3 ovarian disease 9.9
4 facial paralysis 9.9
5 hyperthyroidism 9.9

Graphical network of the top 20 diseases related to Lichtenstein Syndrome:



Diseases related to Lichtenstein Syndrome

Symptoms & Phenotypes for Lichtenstein Syndrome

Human phenotypes related to Lichtenstein Syndrome:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 31 HP:0002205
2 carious teeth 31 HP:0000670
3 abnormal facial shape 31 HP:0001999
4 anteverted nares 31 HP:0000463
5 osteoporosis 31 HP:0000939
6 epicanthus 31 HP:0000286
7 pectus excavatum 31 HP:0000767
8 downturned corners of mouth 31 HP:0002714
9 pes cavus 31 HP:0001761
10 neutropenia 31 HP:0001875
11 abnormality of the respiratory system 31 HP:0002086
12 ulnar deviation of finger 31 HP:0009465
13 synophrys 31 HP:0000664
14 single transverse palmar crease 31 HP:0000954
15 recurrent infections 31 HP:0002719
16 increased susceptibility to fractures 31 HP:0002659
17 hirsutism 31 HP:0001007
18 decreased circulating iga level 31 HP:0002720
19 hypoplasia of dental enamel 31 HP:0006297
20 metacarpophalangeal joint contracture 31 HP:0006070
21 long-tract signs 31 HP:0002423
22 c1-c2 subluxation 31 HP:0003320

Symptoms via clinical synopsis from OMIM:

56
Respiratory:
recurrent respiratory infections

Hematology:
neutropenia

Skeletal Spine:
c1-c2 subluxation
posterior spinal arch fusion defect

Skeletal Hands:
transverse palmar crease
ulnar deviation of fingers
hyperextensibility of hands

Head And Neck Mouth:
carp mouth

Head And Neck Face:
unusual facies

Skeletal:
osteoporosis, severe
repeated fractures

Skeletal Limbs:
limited extension at the elbows

Skeletal Feet:
pes cavus

Head And Neck Eyes:
synophrys
epicanthal folds
white sclera

Head And Neck Nose:
anteverted nostrils

Head And Neck Teeth:
enamel hypoplasia
caries
discolored teeth, brown

Immunology:
iga deficiency
recurrent infections (pulmonary, skin, teeth)

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum, mild

Skeletal Skull:
wide, asymmetric foramen magnum

Skin Nails Hair Hair:
hirsutism of arms and legs

Clinical features from OMIM:

246550

Drugs & Therapeutics for Lichtenstein Syndrome

Search Clinical Trials , NIH Clinical Center for Lichtenstein Syndrome

Genetic Tests for Lichtenstein Syndrome

Anatomical Context for Lichtenstein Syndrome

MalaCards organs/tissues related to Lichtenstein Syndrome:

40
Skin

Publications for Lichtenstein Syndrome

Articles related to Lichtenstein Syndrome:

(show all 12)
# Title Authors PMID Year
1
Osteosarcoma of the Mandible Arising in Fibrous Dysplasia-A Case Report. 61
27425882 2016
2
[Jaffe-Lichtenstein syndrome with acute peripheral facial palsy?]. 61
22504839 2012
3
Skeletal disorders associated with skin pigmentation: a role of melatonin? 61
14592800 2003
4
Melatonin deficiency and fibrous dysplasia: might a relation exist? 61
12376077 2002
5
[An unusual association: Jaffe-Linchtenstein syndrome, arcuate ligament syndrome and hepatic adenoma]. 61
8684657 1996
6
[2 cases of Jaffé-Lichtenstein syndrome]. 61
4458162 1974
7
[Genetic questions in Albright's and in Jaffé-Lichtenstein syndrome]. 61
4705123 1973
8
[Ophthalmologic localization of an unusual disease: Jaffe-Lichtenstein syndrome or an approximate form of Albright's syndrome]. 61
5526393 1970
9
[A CASE OF POLIOSTOTIC OSTEODYSPLASIA FIBROSA (JAFF'E-LICHTENSTEIN SYNDROME) ASSOCIATED WITH HYPERTHYROIDISM]. 61
14337875 1965
10
[THE JAFF'E-LICHTENSTEIN SYNDROME ASSOCIATED WITH THYROTOXICOSIS]. 61
14121447 1963
11
[A case of polyostotic fibrous dysplasia (Jaffe-Lichtenstein syndrome)]. 61
13089386 1953
12
[Fibrous osteodystrophy with ovarian dysfunction and skin pigmentation (Albright-Jaffe-Lichtenstein syndrome)]. 61
14912364 1951

Variations for Lichtenstein Syndrome

Expression for Lichtenstein Syndrome

Search GEO for disease gene expression data for Lichtenstein Syndrome.

Pathways for Lichtenstein Syndrome

GO Terms for Lichtenstein Syndrome

Sources for Lichtenstein 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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