MCID: ACK001
MIFTS: 21

Ackerman Syndrome

Categories: Fetal diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ackerman Syndrome

MalaCards integrated aliases for Ackerman Syndrome:

Name: Ackerman Syndrome 56 74 71
Molar Roots, Pyramidal, with Juvenile Glaucoma and Unusual Upper Lip 56
Glaucoma, Juvenile, with Unusual Upper Lip and Dental Roots 56
Pyramidal Molars-Abnormal Upper Lip Syndrome 58
Ackerman Fused Molar Roots Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
pyramidal molars-abnormal upper lip syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
ackerman syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

OMIM 56 200970
MESH via Orphanet 44 C538170
ICD10 via Orphanet 33 K00.2
UMLS via Orphanet 72 C1860167
Orphanet 58 ORPHA2561
MedGen 41 C1860167
SNOMED-CT via HPO 68 23986001 258211005 51744007
UMLS 71 C1860167

Summaries for Ackerman Syndrome

MalaCards based summary : Ackerman Syndrome, also known as molar roots, pyramidal, with juvenile glaucoma and unusual upper lip, is related to pyramidal molars-abnormal upper lip syndrome and interstitial granulomatous dermatitis with arthritis. Affiliated tissues include salivary gland, skin and t cells, and related phenotypes are glaucoma and taurodontia

Wikipedia : 74 Ackerman syndrome is a familial syndrome of fused molar roots with a single canal (taurodontism),... more...

More information from OMIM: 200970

Related Diseases for Ackerman Syndrome

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

# Related Disease Score Top Affiliating Genes
1 pyramidal molars-abnormal upper lip syndrome 12.8
2 interstitial granulomatous dermatitis with arthritis 11.7
3 dermatitis 10.3
4 granulomatous dermatitis 10.3
5 arthritis 10.3
6 autoimmune disease 10.1
7 silicosis 10.1
8 plica syndrome 10.1
9 synovitis 10.1
10 paraneoplastic syndromes 10.1

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



Diseases related to Ackerman Syndrome

Symptoms & Phenotypes for Ackerman Syndrome

Human phenotypes related to Ackerman Syndrome:

31
# Description HPO Frequency HPO Source Accession
1 glaucoma 31 HP:0000501
2 taurodontia 31 HP:0000679
3 broad philtrum 31 HP:0000289

Symptoms via clinical synopsis from OMIM:

56
Teeth:
taurodontism
molar roots pyramidal

Mouth:
upper lip full
cupid's bow absent
philtrum thick and wide

Eye:
glaucoma, juvenile

Clinical features from OMIM:

200970

Drugs & Therapeutics for Ackerman Syndrome

Search Clinical Trials , NIH Clinical Center for Ackerman Syndrome

Genetic Tests for Ackerman Syndrome

Anatomical Context for Ackerman Syndrome

MalaCards organs/tissues related to Ackerman Syndrome:

40
Salivary Gland, Skin, T Cells

Publications for Ackerman Syndrome

Articles related to Ackerman Syndrome:

# Title Authors PMID Year
1
Taurodont, pyramidal and fused molar roots associated with other anomalies in a kindred. 56
4349385 1973
2
Anticentromere antibody positive Ackerman's Syndrome with Granulomatous Anterior Uveitis. 61
28605750 2017
3
Ackerman syndrome: a rare cause of arthritis with dermatitis. 61
25666244 2015
4
Primary Cutaneous γδ T-Cell Lymphoma and Hemophagocytic Syndrome. 61
25003465 2014
5
Interstitial granulomatous dermatitis with arthritis (Ackerman syndrome). 61
16755676 2006
6
Arthritis and interstitial granulomatous dermatitis (Ackerman syndrome) with pulmonary silicosis. 61
12701044 2003

Variations for Ackerman Syndrome

Expression for Ackerman Syndrome

Search GEO for disease gene expression data for Ackerman Syndrome.

Pathways for Ackerman Syndrome

GO Terms for Ackerman Syndrome

Sources for Ackerman 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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