MCID: HRD037
MIFTS: 26

Hardikar Syndrome

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Hardikar Syndrome

MalaCards integrated aliases for Hardikar Syndrome:

Name: Hardikar Syndrome 56 52 58 71
Cholestasis-Pigmentary Retinopathy-Cleft Palate Syndrome 52 58

Characteristics:

Orphanet epidemiological data:

58
cholestasis-pigmentary retinopathy-cleft palate syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
isolated cases

Miscellaneous:
onset at birth
four cases have been reported, all female
two patients required liver transplantation


HPO:

31
hardikar syndrome:
Inheritance sporadic
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Hardikar Syndrome

NIH Rare Diseases : 52 Hardikar syndrome is a very rare multiple congenital malformation syndrome characterized by obstructive liver and kidney disease , intestinal malrotation , genitourinary abnormalities, cleft lip and palate , pigmentary retinopathy (breakdown of the light-sensing tissue at the back of the eye), and congenital heart defects . Only four cases have been reported in the medical literature. The cause of this condition remains unknown, although an overlap with Kabuki syndrome and Alagille syndrome have been debated.

MalaCards based summary : Hardikar Syndrome, also known as cholestasis-pigmentary retinopathy-cleft palate syndrome, is related to cleft lip and cleft lip/palate, and has symptoms including icterus Affiliated tissues include liver, eye and heart, and related phenotypes are chorioretinal degeneration and hearing impairment

More information from OMIM: 612726

Related Diseases for Hardikar Syndrome

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

(show all 16)
# Related Disease Score Top Affiliating Genes
1 cleft lip 10.4
2 cleft lip/palate 10.4
3 cholestasis 10.3
4 alagille syndrome 1 10.2
5 coarctation of aorta 10.1
6 kabuki syndrome 1 10.1
7 caroli disease, isolated 10.1
8 bile duct cysts 10.1
9 caroli disease 10.1
10 hydronephrosis 10.1
11 pyelonephritis 10.1
12 liver disease 10.1
13 urinary tract obstruction 10.1
14 biliary tract disease 10.1
15 congenital hepatic fibrosis 10.1
16 vaginal atresia 10.1

Graphical network of the top 20 diseases related to Hardikar Syndrome:



Diseases related to Hardikar Syndrome

Symptoms & Phenotypes for Hardikar Syndrome

Human phenotypes related to Hardikar Syndrome:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 chorioretinal degeneration 31 occasional (7.5%) HP:0200065
2 hearing impairment 31 HP:0000365
3 splenomegaly 31 HP:0001744
4 hepatomegaly 31 HP:0002240
5 failure to thrive 31 HP:0001508
6 portal hypertension 31 HP:0001409
7 pruritus 31 HP:0000989
8 cleft palate 31 HP:0000175
9 recurrent urinary tract infections 31 HP:0000010
10 growth delay 31 HP:0001510
11 elevated hepatic transaminase 31 HP:0002910
12 coarctation of aorta 31 HP:0001680
13 jaundice 31 HP:0000952
14 cleft upper lip 31 HP:0000204
15 patent ductus arteriosus 31 HP:0001643
16 vesicoureteral reflux 31 HP:0000076
17 hydronephrosis 31 HP:0000126
18 ventricular septal defect 31 HP:0001629
19 intestinal malrotation 31 HP:0002566
20 blepharophimosis 31 HP:0000581
21 pulmonary artery stenosis 31 HP:0004415
22 hyperbilirubinemia 31 HP:0002904
23 hydroureter 31 HP:0000072
24 pigmentary retinopathy 31 HP:0000580
25 ureteral stenosis 31 HP:0000071
26 vaginal atresia 31 HP:0000148
27 mottled pigmentation 31 HP:0001070
28 patent foramen ovale 31 HP:0001655
29 cholangitis 31 HP:0030151

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Growth Other:
failure to thrive
poor growth

Genitourinary Bladder:
recurrent urinary tract infections
vesicoureteric reflux

Cardiovascular Vascular:
patent ductus arteriosus
pulmonary artery stenosis (1 patient)
aortic coarctation (1 patient)
hypertrophy of branches of the hepatic artery

Abdomen Gastrointestinal:
intestinal malrotation
jejunal web
small intestinal septum

Laboratory Abnormalities:
hyperbilirubinemia
abnormal liver function tests

Head And Neck Eyes:
pigmentary retinopathy
stippled pigmentation (cat's paw)
choroidoretinal degeneration (1 patient)
long narrow palpebral fissures (1 patient)

Cardiovascular Heart:
ventricular septal defect (1 patient)
atrial septal defect (1 patient)
patent foramen ovale (1 patient)

Genitourinary Internal Genitalia Female:
vaginal atresia (1 patient)

Abdomen Liver:
hepatomegaly
portal hypertension
fibrosis
ductal plate malformations
obstructive liver disease
more
Head And Neck Mouth:
cleft palate
cleft lip

Skin Nails Hair Skin:
jaundice
pruritus secondary to liver disease

Genitourinary Kidneys:
hydronephrosis

Abdomen Biliary Tract:
cholestasis
cholangitis
dilated intrahepatic bile ducts
stenosis of common bile duct

Genitourinary Ureters:
hydroureter
ureteral stenosis

Neurologic Central Nervous System:
normal cognition

Head And Neck Ears:
preauricular dimples
hearing impairment, mild (2 patients)

Clinical features from OMIM:

612726

UMLS symptoms related to Hardikar Syndrome:


icterus

Drugs & Therapeutics for Hardikar Syndrome

Search Clinical Trials , NIH Clinical Center for Hardikar Syndrome

Genetic Tests for Hardikar Syndrome

Anatomical Context for Hardikar Syndrome

MalaCards organs/tissues related to Hardikar Syndrome:

40
Liver, Eye, Heart, Kidney, Small Intestine, Testes

Publications for Hardikar Syndrome

Articles related to Hardikar Syndrome:

# Title Authors PMID Year
1
Hardikar syndrome: long term outcome of a rare genetic disorder. 56 61
18348269 2008
2
Hardikar syndrome: new features. 61 56
18792981 2008
3
Hardikar syndrome: a case requiring liver transplantation. 61 56
12394856 2002
4
Hardikar syndrome: a new syndrome with cleft lip/palate, pigmentary retinopathy and cholestasis. 56 61
9286458 1997
5
Multisystem obstruction with cholestasis, pigmentary retinopathy, and cleft palate: a new syndrome? 56
1519643 1992
6
Aortic coarctation and carotid artery aneurysm in a patient with Hardikar syndrome: Cardiovascular implications for affected individuals. 61
26471230 2016
7
Is Hardikar syndrome distinct from Kabuki (Niikawa-Kuroki) syndrome? 61
22243360 2011
8
[Hardikar syndrome]. 61
11462686 2001

Variations for Hardikar Syndrome

Expression for Hardikar Syndrome

Search GEO for disease gene expression data for Hardikar Syndrome.

Pathways for Hardikar Syndrome

GO Terms for Hardikar Syndrome

Sources for Hardikar Syndrome

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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