MCID: GLL035
MIFTS: 27

Gillessen-Kaesbach-Nishimura Syndrome

Categories: Genetic diseases

Aliases & Classifications for Gillessen-Kaesbach-Nishimura Syndrome

MalaCards integrated aliases for Gillessen-Kaesbach-Nishimura Syndrome:

Name: Gillessen-Kaesbach-Nishimura Syndrome 57 75 29 6
Polycystic Kidney Disease, Autosomal Recessive, with Microbrachycephaly, Hypertelorism, and Brachymelia 57 75
Gikanis 57 75
Ectromelia 44

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
may be lethal in utero
three patients from 2 unrelated families have been shown to carry the same alg9 mutation (last curated may 2016)


HPO:

32
gillessen-kaesbach-nishimura syndrome:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Gillessen-Kaesbach-Nishimura Syndrome

OMIM : 57 Gillessen-Kaesbach-Nishimura syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by skeletal dysplasia, dysmorphic facial features, and variable visceral abnormalities, including polycystic kidneys, diaphragmatic hernia, lung hypoplasia, and congenital heart defects. It may be lethal in utero or early in life. The disorder is at the severe end of the phenotypic spectrum of congenital disorders of glycosylation (summary by Tham et al., 2016). (263210)

MalaCards based summary : Gillessen-Kaesbach-Nishimura Syndrome, also known as polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia, is related to smallpox and vaccinia. An important gene associated with Gillessen-Kaesbach-Nishimura Syndrome is ALG9 (ALG9, Alpha-1,2-Mannosyltransferase), and among its related pathways/superpathways is IL-1 Family Signaling Pathways. Affiliated tissues include kidney, lung and heart, and related phenotypes are hypertelorism and low-set ears

UniProtKB/Swiss-Prot : 75 Gillessen-Kaesbach-Nishimura syndrome: A rare autosomal recessive syndrome characterized by severe skeletal dysplasia, facial dysmorphic features, polycystic kidney disease and other visceral malformations. It may be lethal in utero or early in life. The skeletal features uniformly comprise a round pelvis, mesomelic shortening of the upper limbs and defective ossification of the cervical spine.

Related Diseases for Gillessen-Kaesbach-Nishimura Syndrome

Diseases related to Gillessen-Kaesbach-Nishimura Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 smallpox 28.6 IL18 IL18BP
2 vaccinia 10.4
3 cowpox 10.3
4 synostosis 10.1
5 humero-ulnar synostosis 10.1
6 holt-oram syndrome 9.8
7 erythromelalgia 9.8

Graphical network of the top 20 diseases related to Gillessen-Kaesbach-Nishimura Syndrome:



Diseases related to Gillessen-Kaesbach-Nishimura Syndrome

Symptoms & Phenotypes for Gillessen-Kaesbach-Nishimura Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism

Head And Neck Neck:
short neck

Head And Neck Head:
microcephaly
brachycephaly

Respiratory Lung:
abnormal lung lobation
lung hypoplasia

Genitourinary Kidneys:
polycystic kidneys

Skeletal Limbs:
short tubular bones
brachymelia
metaphyseal broadening

Abdomen Liver:
periportal fibrosis

Abdomen Pancreas:
dilated pancreatic ducts

Skeletal Spine:
absent or decreased ossification of the vertebral bodies

Skeletal Feet:
abnormal feet position

Head And Neck Ears:
low-set ears
posteriorly rotated ears
fleshy ears

Skeletal:
skeletal dysplasia
joint contractures

Head And Neck Face:
micrognathia
retrognathia
flat philtrum

Head And Neck Nose:
beaked nose
hypoplastic alae nasi

Cardiovascular Heart:
congenital heart defects

Chest Diaphragm:
diaphragmatic hernia

Skeletal Hands:
ulnar deviation of the hands

Skeletal Skull:
thick occipital bone
decreased ossification of the skull

Skeletal Pelvis:
absent ossification of the pubic rami
round pelvis
ovoid ischia


Clinical features from OMIM:

263210

Human phenotypes related to Gillessen-Kaesbach-Nishimura Syndrome:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 short neck 32 HP:0000470
4 skeletal dysplasia 32 HP:0002652
5 microcephaly 32 HP:0000252
6 smooth philtrum 32 HP:0000319
7 flexion contracture 32 HP:0001371
8 brachycephaly 32 HP:0000248
9 micrognathia 32 HP:0000347
10 retrognathia 32 HP:0000278
11 short long bone 32 HP:0003026
12 underdeveloped nasal alae 32 HP:0000430
13 telecanthus 32 HP:0000506
14 polycystic kidney dysplasia 32 HP:0000113
15 convex nasal ridge 32 HP:0000444
16 congenital diaphragmatic hernia 32 HP:0000776
17 abnormality of cardiovascular system morphology 32 HP:0030680
18 abnormal lung lobation 32 HP:0002101
19 pulmonary hypoplasia 32 HP:0002089
20 posteriorly rotated ears 32 HP:0000358
21 abnormal heart morphology 32 HP:0001627
22 large fleshy ears 32 HP:0002265
23 periportal fibrosis 32 HP:0001405
24 ulnar deviation of the hand 32 HP:0009487

Drugs & Therapeutics for Gillessen-Kaesbach-Nishimura Syndrome

Search Clinical Trials , NIH Clinical Center for Gillessen-Kaesbach-Nishimura Syndrome

Cochrane evidence based reviews: ectromelia

Genetic Tests for Gillessen-Kaesbach-Nishimura Syndrome

Genetic tests related to Gillessen-Kaesbach-Nishimura Syndrome:

# Genetic test Affiliating Genes
1 Gillessen-Kaesbach-Nishimura Syndrome 29 ALG9

Anatomical Context for Gillessen-Kaesbach-Nishimura Syndrome

MalaCards organs/tissues related to Gillessen-Kaesbach-Nishimura Syndrome:

41
Kidney, Lung, Heart, Bone

Publications for Gillessen-Kaesbach-Nishimura Syndrome

Variations for Gillessen-Kaesbach-Nishimura Syndrome

ClinVar genetic disease variations for Gillessen-Kaesbach-Nishimura Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ALG9 NM_024740.2(ALG9): c.1173+2T> A single nucleotide variant Pathogenic rs786205134 GRCh38 Chromosome 11, 111840653: 111840653
2 ALG9 NM_024740.2(ALG9): c.1173+2T> A single nucleotide variant Pathogenic rs786205134 GRCh37 Chromosome 11, 111711376: 111711376

Expression for Gillessen-Kaesbach-Nishimura Syndrome

Search GEO for disease gene expression data for Gillessen-Kaesbach-Nishimura Syndrome.

Pathways for Gillessen-Kaesbach-Nishimura Syndrome

Pathways related to Gillessen-Kaesbach-Nishimura Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.87 IL18 IL18BP

GO Terms for Gillessen-Kaesbach-Nishimura Syndrome

Biological processes related to Gillessen-Kaesbach-Nishimura Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 T-helper 1 type immune response GO:0042088 8.96 IL18 IL18BP
2 interleukin-18-mediated signaling pathway GO:0035655 8.62 IL18 IL18BP

Sources for Gillessen-Kaesbach-Nishimura 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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