MCID: ACK001
MIFTS: 22

Ackerman Syndrome

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

Aliases & Classifications for Ackerman Syndrome

MalaCards integrated aliases for Ackerman Syndrome:

Name: Ackerman Syndrome 57 76 53 73
Molar Roots, Pyramidal, with Juvenile Glaucoma and Unusual Upper Lip 57
Glaucoma, Juvenile, with Unusual Upper Lip and Dental Roots 57
Juvenile Glaucoma with Unusual Upper Lip and Dental Roots 53
Pyramidal Molars, Glaucoma, Abnormal Upper Lip 53
Pyramidal Molars-Abnormal Upper Lip Syndrome 59
Ackerman Fused Molar Roots Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
pyramidal molars-abnormal upper lip syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
ackerman syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 200970
Orphanet 59 ORPHA2561
UMLS via Orphanet 74 C1860167
ICD10 via Orphanet 34 K00.2
MESH via Orphanet 45 C538170
MedGen 42 C1860167
SNOMED-CT via HPO 69 258211005 23986001 51744007
UMLS 73 C1860167

Summaries for Ackerman Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2561Disease definitionAckerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers.Visit the Orphanet disease page for more resources.

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

Wikipedia : 76 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 interstitial granulomatous dermatitis with arthritis 11.6
2 arthritis 10.2
3 dermatitis 10.2
4 granulomatous dermatitis 10.1
5 silicosis 10.0

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



Diseases related to Ackerman Syndrome

Symptoms & Phenotypes for Ackerman Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Ackerman Syndrome:

32
# Description HPO Frequency HPO Source Accession
1 glaucoma 32 HP:0000501
2 taurodontia 32 HP:0000679
3 broad philtrum 32 HP:0000289

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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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