MCID: RSS006
MIFTS: 11

Rosselli-Gulienetti Syndrome

Aliases & Classifications for Rosselli-Gulienetti Syndrome

MalaCards integrated aliases for Rosselli-Gulienetti Syndrome:

Name: Rosselli-Gulienetti Syndrome 57 72

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
allelic disorder to margarita island type of ectodermal dysplasia ()


HPO:

32
rosselli-gulienetti syndrome:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 57 225000
MedGen 42 C0796139
UMLS 72 C0796139

Summaries for Rosselli-Gulienetti Syndrome

MalaCards based summary : Rosselli-Gulienetti Syndrome is related to obsolete: rosselli-gulienetti syndrome. Related phenotypes are global developmental delay and cleft palate

Wikipedia : 75 Rosselli-Gulienetti syndrome, also known as Zlotogora-Ogur syndrome and Bowen-Armstrong syndrome, is a... more...

More information from OMIM: 225000

Related Diseases for Rosselli-Gulienetti Syndrome

Diseases related to Rosselli-Gulienetti Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 obsolete: rosselli-gulienetti syndrome 12.6

Symptoms & Phenotypes for Rosselli-Gulienetti Syndrome

Human phenotypes related to Rosselli-Gulienetti Syndrome:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 HP:0001263
2 cleft palate 32 HP:0000175
3 microdontia 32 HP:0000691
4 hypohidrosis 32 HP:0000966
5 cleft upper lip 32 HP:0000204
6 hypodontia 32 HP:0000668
7 abnormality of the philtrum 32 HP:0000288
8 nail dysplasia 32 HP:0002164
9 cutaneous finger syndactyly 32 HP:0010554
10 sparse eyelashes 32 HP:0000653
11 abnormality of the ear 32 HP:0000598
12 palmoplantar hyperkeratosis 32 HP:0000972
13 anodontia 32 HP:0000674
14 cutaneous syndactyly of toes 32 HP:0010621
15 sparse and thin eyebrow 32 HP:0000535
16 psychomotor retardation 32 HP:0025356
17 progressive hypotrichosis 32 HP:0002296
18 anteverted ears 32 HP:0040080

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
cleft palate
cleft lip

Head And Neck Eyes:
sparse eyelashes
sparse eyebrows

Skin Nails Hair Skin:
palmoplantar hyperkeratosis
hypohidrosis may be present

Skeletal Hands:
syndactyly, cutaneous

Head And Neck Nose:
abnormal philtrum

Neurologic Central Nervous System:
psychomotor retardation, variable

Head And Neck Teeth:
microdontia
hypodontia
anodontia

Skin Nails Hair Hair:
sparse eyelashes
sparse eyebrows
hypotrichosis, progressive
sparse, abnormal hair

Head And Neck Ears:
anteverted ears

Skeletal Feet:
syndactyly, cutaneous

Skin Nails Hair Nails:
onychodysplasia may be present

Clinical features from OMIM:

225000

Drugs & Therapeutics for Rosselli-Gulienetti Syndrome

Search Clinical Trials , NIH Clinical Center for Rosselli-Gulienetti Syndrome

Genetic Tests for Rosselli-Gulienetti Syndrome

Anatomical Context for Rosselli-Gulienetti Syndrome

Publications for Rosselli-Gulienetti Syndrome

Articles related to Rosselli-Gulienetti Syndrome:

# Title Authors PMID Year
1
Syndactyly, ectodermal dysplasia, and cleft lip/palate. 8
7891379 1994
2
Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs. 8
174848 1976
3
Ectodermal dysplasia. 8
14494246 1961

Variations for Rosselli-Gulienetti Syndrome

Expression for Rosselli-Gulienetti Syndrome

Search GEO for disease gene expression data for Rosselli-Gulienetti Syndrome.

Pathways for Rosselli-Gulienetti Syndrome

GO Terms for Rosselli-Gulienetti Syndrome

Sources for Rosselli-Gulienetti Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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