MCID: ACR072
MIFTS: 22

Acrorenal Syndrome

Categories: Fetal diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Acrorenal Syndrome

MalaCards integrated aliases for Acrorenal Syndrome:

Name: Acrorenal Syndrome 58 12 60 45 15 74

Characteristics:

Orphanet epidemiological data:

60
acrorenal syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
? autosomal dominant


HPO:

33
acrorenal syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060347
OMIM 58 102520
MeSH 45 C563159
ICD10 via Orphanet 35 Q87.2
UMLS via Orphanet 75 C0796290 C3495490
Orphanet 60 ORPHA971
MedGen 43 C3495490
UMLS 74 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 HLA-DQA1 (Major Histocompatibility Complex, Class II, DQ Alpha 1). Affiliated tissues include eye, lung and kidney, and related phenotypes are renal hypoplasia/aplasia and split hand

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 12.2
2 acrorenal syndrome, autosomal recessive 12.1

Symptoms & Phenotypes for Acrorenal Syndrome

Human phenotypes related to Acrorenal Syndrome:

60 33 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal hypoplasia/aplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008678
2 split hand 60 33 hallmark (90%) Very frequent (99-80%) HP:0001171
3 abnormality of the ulna 60 33 frequent (33%) Frequent (79-30%) HP:0002997
4 renal insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0000083
5 aplasia/hypoplasia of the radius 60 33 frequent (33%) Frequent (79-30%) HP:0006501
6 abnormality of tibia morphology 60 33 frequent (33%) Frequent (79-30%) HP:0002992
7 abnormality of vision 60 33 occasional (7.5%) Occasional (29-5%) HP:0000504
8 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
9 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
10 abnormal renal morphology 60 33 Very frequent (99-80%) HP:0012210
11 abnormality of the eye 60 Occasional (29-5%)
12 hand oligodactyly 33 HP:0001180

Symptoms via clinical synopsis from OMIM:

58
G U:
renal malformation

Misc:
male, sporadic developmental field defect

Limbs:
absent digits

Clinical features from OMIM:

102520

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:

42
Eye, Lung, Kidney, Uterus, Trachea

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 "acrorenal syndrome"? ( 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: "Acrorenal syndrome in a child with renal failure" [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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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