MCID: ACK001
MIFTS: 20

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 58 77 74
Molar Roots, Pyramidal, with Juvenile Glaucoma and Unusual Upper Lip 58
Glaucoma, Juvenile, with Unusual Upper Lip and Dental Roots 58
Pyramidal Molars-Abnormal Upper Lip Syndrome 60
Ackerman Fused Molar Roots Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
pyramidal molars-abnormal upper lip syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
ackerman syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 200970
MESH via Orphanet 46 C538170
ICD10 via Orphanet 35 K00.2
UMLS via Orphanet 75 C1860167
Orphanet 60 ORPHA2561
MedGen 43 C1860167
SNOMED-CT via HPO 70 23986001 258211005 51744007
UMLS 74 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 skin, and related phenotypes are glaucoma and taurodontia

Wikipedia : 77 Ackerman syndrome is a familial syndrome of fused molar roots with a single canal (taurodontism),... more...

Description 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 12.7
2 interstitial granulomatous dermatitis with arthritis 11.6
3 arthritis 10.3
4 dermatitis 10.3
5 granulomatous dermatitis 10.2
6 silicosis 10.0

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:

33
# Description HPO Frequency HPO Source Accession
1 glaucoma 33 HP:0000501
2 taurodontia 33 HP:0000679
3 broad philtrum 33 HP:0000289

Symptoms via clinical synopsis from OMIM:

58
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:

42
Skin

Publications for Ackerman Syndrome

Articles related to Ackerman Syndrome:

# Title Authors Year
1
Ackerman syndrome: a rare cause of arthritis with dermatitis. ( 25666244 )
2015
2
Interstitial granulomatous dermatitis with arthritis (Ackerman syndrome). ( 16755676 )
2006
3
Arthritis and interstitial granulomatous dermatitis (Ackerman syndrome) with pulmonary silicosis. ( 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
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
51 NCIt
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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