MCID: ACR072
MIFTS: 23

Acrorenal Syndrome

Categories: Fetal diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Acrorenal Syndrome

MalaCards integrated aliases for Acrorenal Syndrome:

Name: Acrorenal Syndrome 57 12 59 44 15 73

Characteristics:

Orphanet epidemiological data:

59
acrorenal syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
? autosomal dominant


Classifications:



External Ids:

OMIM 57 102520
Disease Ontology 12 DOID:0060347
MeSH 44 C563159
Orphanet 59 ORPHA971
ICD10 via Orphanet 34 Q87.2
UMLS via Orphanet 74 C3495490 C0796290
MedGen 42 C3495490
UMLS 73 C3495490

Summaries for Acrorenal Syndrome

Disease Ontology : 12 A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes.

MalaCards based summary : Acrorenal Syndrome is related to acrorenal syndrome recessive and acrorenal syndrome, autosomal recessive. An important gene associated with Acrorenal Syndrome is SLC29A3 (Solute Carrier Family 29 Member 3). Affiliated tissues include eye, lung and kidney, and related phenotypes are abnormality of the ulna and renal insufficiency

Description from OMIM: 102520

Related Diseases for Acrorenal Syndrome

Diseases in the Acrorenal Syndrome family:

Acrorenal Syndrome, Autosomal Recessive Acrorenal Syndrome Recessive

Diseases related to Acrorenal Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acrorenal syndrome recessive 12.1
2 acrorenal syndrome, autosomal recessive 12.0

Symptoms & Phenotypes for Acrorenal Syndrome

Symptoms via clinical synopsis from OMIM:

57
G U:
renal malformation

Misc:
male, sporadic developmental field defect

Limbs:
absent digits


Clinical features from OMIM:

102520

Human phenotypes related to Acrorenal Syndrome:

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the ulna 59 32 frequent (33%) Frequent (79-30%) HP:0002997
2 renal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000083
3 abnormality of vision 59 32 occasional (7.5%) Occasional (29-5%) HP:0000504
4 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
5 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
6 renal hypoplasia/aplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008678
7 split hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0001171
8 aplasia/hypoplasia of the radius 59 32 frequent (33%) Frequent (79-30%) HP:0006501
9 abnormality of tibia morphology 59 32 frequent (33%) Frequent (79-30%) HP:0002992
10 abnormal renal morphology 59 32 Very frequent (99-80%) HP:0012210
11 abnormality of the eye 59 Occasional (29-5%)
12 hand oligodactyly 32 HP:0001180

Drugs & Therapeutics for Acrorenal Syndrome

Search Clinical Trials , NIH Clinical Center for Acrorenal Syndrome

Cochrane evidence based reviews: acrorenal syndrome

Genetic Tests for Acrorenal Syndrome

Anatomical Context for Acrorenal Syndrome

MalaCards organs/tissues related to Acrorenal Syndrome:

41
Eye, Lung, Kidney, Trachea, Uterus

Publications for Acrorenal Syndrome

Articles related to Acrorenal Syndrome:

# Title Authors Year
1
A Case of Acrorenal Syndrome. ( 30087221 )
2018
2
Renal defects and limb deficiencies in 197 infants: is it possible to define the &amp;quot;acrorenal syndrome&amp;quot;? ( 15316969 )
2004
3
No 'Stinkefinger' and renal failure--do you see a link? Diagnosis: acrorenal syndrome. ( 10534529 )
1999
4
Acrorenal syndrome associated with visual defect. ( 8971900 )
1996
5
Re: &amp;quot;Acrorenal syndrome in a child with renal failure&amp;quot; [Akl, 1994]. ( 7864054 )
1994
6
Acrorenal syndrome in a child with renal failure. ( 8179725 )
1994
7
Acrorenal syndrome: further observations. ( 1342854 )
1992
8
Autosomal recessive acrorenal syndrome. ( 1344975 )
1992
9
Acrorenal syndrome in an adult--presentation with proteinuria, hypertension, and glomerular lesions. ( 2773925 )
1989
10
A new variant of the acrorenal syndrome associated with bilateral oligomeganephronic hypoplasia. ( 6714259 )
1984

Variations for Acrorenal Syndrome

Expression for Acrorenal Syndrome

Search GEO for disease gene expression data for Acrorenal Syndrome.

Pathways for Acrorenal Syndrome

GO Terms for Acrorenal Syndrome

Sources for Acrorenal 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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