MCID: GTR012
MIFTS: 18

Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies

Categories: Fetal diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Goiter, Multinodular, Cystic Renal Disease, and Digital...

MalaCards integrated aliases for Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies:

Name: Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies 56
Thyroid-Renal-Digital Anomalies 52 58
Daneman Davy Mancer Syndrome 52 71
Mng/crd/da 56 52
Multinodular Goiter, Cystic Renal Disease, and Digital Anomalies 52
Multinodular Goiter/cystic Renal Disease/digital Anomalies 56
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome 58
Multinodular Goiter - Cystic Kidney - Polydactyly 52
Daneman-Davy-Mancer Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
multinodular goiter-cystic kidney-polydactyly syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant with variable expression and incomplete penetrance


HPO:

31
goiter, multinodular, cystic renal disease, and digital anomalies:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 138790
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1841853
Orphanet 58 ORPHA2091
MedGen 41 C1841853
UMLS 71 C1841853

Summaries for Goiter, Multinodular, Cystic Renal Disease, and Digital...

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2091 Definition Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. Epidemiology It has been described in two sibs and one unrelated child. Clinical description The two sibs had digitalized thumbs and preaxial polydactyly, the third child had normal thumbs and postaxial polydactyly. Goiter and/or digitalized thumbs and/or polydactyly were present in other members of families. Genetic counseling This syndrome seems to be transmitted as an autosomal dominant trait with variable expression and incomplete penetrance . Visit the Orphanet disease page for more resources.

MalaCards based summary : Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies, also known as thyroid-renal-digital anomalies, is related to multinodular goiter and goiter. Affiliated tissues include kidney and thyroid, and related phenotypes are multicystic kidney dysplasia and triphalangeal thumb

More information from OMIM: 138790

Related Diseases for Goiter, Multinodular, Cystic Renal Disease, and Digital...

Diseases related to Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 2, show less)
# Related Disease Score Top Affiliating Genes
1 multinodular goiter 10.3
2 goiter 10.3

Symptoms & Phenotypes for Goiter, Multinodular, Cystic Renal Disease, and Digital...

Human phenotypes related to Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies:

58 31 (showing 8, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000003
2 triphalangeal thumb 58 31 frequent (33%) Frequent (79-30%) HP:0001199
3 postaxial hand polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001162
4 preaxial foot polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001841
5 multinodular goiter 58 31 frequent (33%) Frequent (79-30%) HP:0005987
6 renal cyst 31 HP:0000107
7 abnormality of the genitourinary system 31 HP:0000119
8 bilateral triphalangeal thumbs 31 HP:0005707

Symptoms via clinical synopsis from OMIM:

56
Neck:
multinodular goiter

Limbs:
bilateral digitalized thumbs
preaxial polydactyly of feet
postaxial polydactyly of hand

G U:
cystic kidney disease

Clinical features from OMIM:

138790

Drugs & Therapeutics for Goiter, Multinodular, Cystic Renal Disease, and Digital...

Search Clinical Trials , NIH Clinical Center for Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies

Genetic Tests for Goiter, Multinodular, Cystic Renal Disease, and Digital...

Anatomical Context for Goiter, Multinodular, Cystic Renal Disease, and Digital...

MalaCards organs/tissues related to Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies:

40
Kidney, Thyroid

Publications for Goiter, Multinodular, Cystic Renal Disease, and Digital...

Articles related to Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies:

(showing 1, show less)
# Title Authors PMID Year
1
Association of multinodular goiter, cystic renal disease, and digital anomalies. 61 56
4020555 1985

Variations for Goiter, Multinodular, Cystic Renal Disease, and Digital...

Expression for Goiter, Multinodular, Cystic Renal Disease, and Digital...

Search GEO for disease gene expression data for Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies.

Pathways for Goiter, Multinodular, Cystic Renal Disease, and Digital...

GO Terms for Goiter, Multinodular, Cystic Renal Disease, and Digital...

Sources for Goiter, Multinodular, Cystic Renal Disease, and Digital...

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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