Lichtenstein Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases
Anatomical: Blood diseases Immune diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare immunological diseases

External Ids:

OMIM ⁵⁶ 246550

UMLS via Orphanet ⁷² C1855502

Orphanet ⁵⁸ ORPHA2390

MedGen ⁴¹ C1855502

UMLS ⁷¹ C1855502

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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

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Related Diseases for Lichtenstein Syndrome

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

(showing 5, show less)

#	Related Disease	Score
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:

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Symptoms & Phenotypes for Lichtenstein Syndrome

Human phenotypes related to Lichtenstein Syndrome:

³¹ (showing 22, show less)

#	Description	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

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Drugs & Therapeutics for Lichtenstein Syndrome

Search Clinical Trials , NIH Clinical Center for Lichtenstein Syndrome

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Genetic Tests for Lichtenstein Syndrome

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Anatomical Context for Lichtenstein Syndrome

MalaCards organs/tissues related to Lichtenstein Syndrome:

⁴⁰

Skin

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Publications for Lichtenstein Syndrome

Articles related to Lichtenstein Syndrome:

(showing 12, show less)

#	Title	Authors	PMID	Year
1	Osteosarcoma of the Mandible Arising in Fibrous Dysplasia-A Case Report. ⁶¹	Pack SE...Baur DA	27425882	2016
2	[Jaffe-Lichtenstein syndrome with acute peripheral facial palsy?]. ⁶¹	San Nicolo M...Strieth S	22504839	2012
3	Skeletal disorders associated with skin pigmentation: a role of melatonin? ⁶¹	Abdel-Wanis ME...Kawahara N	14592800	2003
4	Melatonin deficiency and fibrous dysplasia: might a relation exist? ⁶¹	Abdel-Wanis ME...Tsuchiya H	12376077	2002
5	[An unusual association: Jaffe-Linchtenstein syndrome, arcuate ligament syndrome and hepatic adenoma]. ⁶¹	Fontana D...Della Beffa V	8684657	1996
6	[2 cases of Jaffé-Lichtenstein syndrome]. ⁶¹	Haddad N...Andrea M	4458162	1974
7	[Genetic questions in Albright's and in Jaffé-Lichtenstein syndrome]. ⁶¹	Wittwer B	4705123	1973
8	[Ophthalmologic localization of an unusual disease: Jaffe-Lichtenstein syndrome or an approximate form of Albright's syndrome]. ⁶¹	Lods F	5526393	1970
9	[A CASE OF POLIOSTOTIC OSTEODYSPLASIA FIBROSA (JAFF'E-LICHTENSTEIN SYNDROME) ASSOCIATED WITH HYPERTHYROIDISM]. ⁶¹	CONFALONIERI F	14337875	1965
10	[THE JAFF'E-LICHTENSTEIN SYNDROME ASSOCIATED WITH THYROTOXICOSIS]. ⁶¹	LACROIX L...CATTANEO C	14121447	1963
11	[A case of polyostotic fibrous dysplasia (Jaffe-Lichtenstein syndrome)]. ⁶¹	JANNELLI E...MIGNOGNA A	13089386	1953
12	[Fibrous osteodystrophy with ovarian dysfunction and skin pigmentation (Albright-Jaffe-Lichtenstein syndrome)]. ⁶¹	BRUNELLI OA...MIRCOLI D	14912364	1951

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Genes for Lichtenstein Syndrome

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Variations for Lichtenstein Syndrome

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Expression for Lichtenstein Syndrome

Search GEO for disease gene expression data for Lichtenstein Syndrome.

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Pathways for Lichtenstein Syndrome

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GO Terms for Lichtenstein Syndrome

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Sources for Lichtenstein Syndrome

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⁷⁴ Wikipedia