GIKANIS
MCID: GLL035
MIFTS: 23

Gillessen-Kaesbach-Nishimura Syndrome (GIKANIS)

Categories: Bone diseases, Genetic diseases, Nephrological diseases

Aliases & Classifications for Gillessen-Kaesbach-Nishimura Syndrome

MalaCards integrated aliases for Gillessen-Kaesbach-Nishimura Syndrome:

Name: Gillessen-Kaesbach-Nishimura Syndrome 57 72 29 6
Polycystic Kidney Disease, Autosomal Recessive, with Microbrachycephaly, Hypertelorism, and Brachymelia 57 72
Gikanis 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
gillessen-kaesbach-nishimura syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


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) (Updated 05-Apr-2021)

MalaCards based summary : Gillessen-Kaesbach-Nishimura Syndrome, is also known as polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia. An important gene associated with Gillessen-Kaesbach-Nishimura Syndrome is ALG9 (ALG9 Alpha-1,2-Mannosyltransferase). Affiliated tissues include kidney, lung and heart, and related phenotypes are short neck and hypertelorism

UniProtKB/Swiss-Prot : 72 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

Symptoms & Phenotypes for Gillessen-Kaesbach-Nishimura Syndrome

Human phenotypes related to Gillessen-Kaesbach-Nishimura Syndrome:

31 (show all 35)
# Description HPO Frequency HPO Source Accession
1 short neck 31 very rare (1%) HP:0000470
2 hypertelorism 31 very rare (1%) HP:0000316
3 microcephaly 31 very rare (1%) HP:0000252
4 smooth philtrum 31 very rare (1%) HP:0000319
5 flexion contracture 31 very rare (1%) HP:0001371
6 retrognathia 31 very rare (1%) HP:0000278
7 micrognathia 31 very rare (1%) HP:0000347
8 low-set ears 31 very rare (1%) HP:0000369
9 thickened nuchal skin fold 31 very rare (1%) HP:0000474
10 epicanthus 31 very rare (1%) HP:0000286
11 polyhydramnios 31 very rare (1%) HP:0001561
12 proptosis 31 very rare (1%) HP:0000520
13 polycystic kidney dysplasia 31 very rare (1%) HP:0000113
14 telecanthus 31 very rare (1%) HP:0000506
15 congenital diaphragmatic hernia 31 very rare (1%) HP:0000776
16 convex nasal ridge 31 very rare (1%) HP:0000444
17 wide anterior fontanel 31 very rare (1%) HP:0000260
18 underdeveloped nasal alae 31 very rare (1%) HP:0000430
19 omphalocele 31 very rare (1%) HP:0001539
20 oligohydramnios 31 very rare (1%) HP:0001562
21 abnormal lung lobation 31 very rare (1%) HP:0002101
22 decreased skull ossification 31 very rare (1%) HP:0004331
23 pulmonary hypoplasia 31 very rare (1%) HP:0002089
24 posteriorly rotated ears 31 very rare (1%) HP:0000358
25 abnormal heart morphology 31 very rare (1%) HP:0001627
26 bicornuate uterus 31 very rare (1%) HP:0000813
27 short long bone 31 very rare (1%) HP:0003026
28 metaphyseal widening 31 very rare (1%) HP:0003016
29 large fleshy ears 31 very rare (1%) HP:0002265
30 ulnar deviation of the hand 31 very rare (1%) HP:0009487
31 periportal fibrosis 31 very rare (1%) HP:0001405
32 narrow greater sciatic notch 31 very rare (1%) HP:0003375
33 skeletal dysplasia 31 HP:0002652
34 brachycephaly 31 HP:0000248
35 frontotemporal hypertrichosis 31 HP:0032313

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Neck:
short neck

Head And Neck Eyes:
hypertelorism

Head And Neck Face:
retrognathia
micrognathia
flat philtrum

Respiratory Lung:
abnormal lung lobation
lung hypoplasia

Head And Neck Nose:
beaked nose
hypoplastic alae nasi

Cardiovascular Heart:
congenital heart defects

Chest Diaphragm:
diaphragmatic hernia

Abdomen Pancreas:
dilated pancreatic ducts

Skeletal Spine:
absent or decreased ossification of the vertebral bodies

Skeletal Feet:
abnormal feet position

Skeletal:
skeletal dysplasia
joint contractures

Head And Neck Head:
microcephaly
brachycephaly

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

Abdomen Liver:
periportal fibrosis

Genitourinary Kidneys:
polycystic kidneys

Skeletal Limbs:
short tubular bones
brachymelia
metaphyseal broadening

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 (Updated 05-Apr-2021)

Drugs & Therapeutics for Gillessen-Kaesbach-Nishimura Syndrome

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

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:

40
Kidney, Lung, Heart, Bone, Uterus

Publications for Gillessen-Kaesbach-Nishimura Syndrome

Articles related to Gillessen-Kaesbach-Nishimura Syndrome:

# Title Authors PMID Year
1
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9. 57 6 61
25966638 2016
2
Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p. 57
10607948 2000
3
A lethal osteochondrodysplasia with mesomelic brachymelia, round pelvis, and congenital hepatic fibrosis: two siblings born to consanguineous parents. 57
9426272 1998
4
New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects. 57
8465860 1993

Variations for Gillessen-Kaesbach-Nishimura Syndrome

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALG9 NM_024740.2(ALG9):c.1173+2T>A SNV Pathogenic 162619 rs786205134 GRCh37: 11:111711376-111711376
GRCh38: 11:111840653-111840653
2 ALG9 NM_024740.2(ALG9):c.694G>C (p.Ala232Pro) SNV Uncertain significance 96135 rs36111204 GRCh37: 11:111728332-111728332
GRCh38: 11:111857609-111857609

Expression for Gillessen-Kaesbach-Nishimura Syndrome

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

Pathways for Gillessen-Kaesbach-Nishimura Syndrome

GO Terms for Gillessen-Kaesbach-Nishimura Syndrome

Sources for Gillessen-Kaesbach-Nishimura Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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