MCID: SPL017
MIFTS: 9

Splenogonadal Fusion Limb Defects Micrognatia

Categories: Rare diseases

Aliases & Classifications for Splenogonadal Fusion Limb Defects Micrognatia

MalaCards integrated aliases for Splenogonadal Fusion Limb Defects Micrognatia:

Name: Splenogonadal Fusion Limb Defects Micrognatia 53 72
Splenogonadal Fusion Limb Defects Syndrome 53
Sgfld Syndrome 53

Classifications:



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UMLS 72 C1866745

Summaries for Splenogonadal Fusion Limb Defects Micrognatia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2063DefinitionSplenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.Visit the Orphanet disease page for more resources.

MalaCards based summary : Splenogonadal Fusion Limb Defects Micrognatia, also known as splenogonadal fusion limb defects syndrome, is related to splenogonadal fusion with limb defects and micrognathia and femoral-facial syndrome. Affiliated tissues include lung and spleen.

Related Diseases for Splenogonadal Fusion Limb Defects Micrognatia

Diseases related to Splenogonadal Fusion Limb Defects Micrognatia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 splenogonadal fusion with limb defects and micrognathia 11.8
2 femoral-facial syndrome 10.4
3 roberts syndrome 10.2
4 dysostosis 10.2

Symptoms & Phenotypes for Splenogonadal Fusion Limb Defects Micrognatia

Drugs & Therapeutics for Splenogonadal Fusion Limb Defects Micrognatia

Search Clinical Trials , NIH Clinical Center for Splenogonadal Fusion Limb Defects Micrognatia

Genetic Tests for Splenogonadal Fusion Limb Defects Micrognatia

Anatomical Context for Splenogonadal Fusion Limb Defects Micrognatia

MalaCards organs/tissues related to Splenogonadal Fusion Limb Defects Micrognatia:

41
Lung, Spleen

Publications for Splenogonadal Fusion Limb Defects Micrognatia

Articles related to Splenogonadal Fusion Limb Defects Micrognatia:

# Title Authors PMID Year
1
Prenatal sonographic findings in a fetus with splenogonadal fusion limb defect syndrome. 38
19253352 2009
2
Splenogonadal fusion limb defect syndrome: report of five new cases and review. 38
10494091 1999

Variations for Splenogonadal Fusion Limb Defects Micrognatia

Expression for Splenogonadal Fusion Limb Defects Micrognatia

Search GEO for disease gene expression data for Splenogonadal Fusion Limb Defects Micrognatia.

Pathways for Splenogonadal Fusion Limb Defects Micrognatia

GO Terms for Splenogonadal Fusion Limb Defects Micrognatia

Sources for Splenogonadal Fusion Limb Defects Micrognatia

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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