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 52 71
Splenogonadal Fusion Limb Defects Syndrome 52
Sgfld Syndrome 52

Classifications:



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UMLS 71 C1866745

Summaries for Splenogonadal Fusion Limb Defects Micrognatia

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2063 Definition Splenogonadal 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 spleen and lung.

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:

40
Spleen, Lung

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. 61
19253352 2009
2
Splenogonadal fusion limb defect syndrome: report of five new cases and review. 61
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 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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