Renal hypoplasia

Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively (see these terms)) have a deficit in the number of nephrons and may be small. Oligomeganephronia (see this term) represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied.



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Total: 143 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(79.3%)		 2679089
 Apparent Ruvalcaba syndrome with genitourinary abnormalities.
Bialer MG, Wilson WG, Kelly TE.
Am J Med Genet. 1989;33(3):314-7.
Thin upper lip vermilion Upslanted palpebral fissure Narrow maxilla Short finger
Adult Bone Diseases, Developmental Face Females Homo sapiens Intellectual Disability Syndrome Urogenital Abnormalities
2
(66.4%)		 20814946
 Tissue-limited mosaicism for monosomy 13.
Golabi M, James AW, Good WV, Cotter PD.
Am J Med Genet A. 2010;152A(10):2634-9.
Micrognathia Prominent nasal bridge Absent thumb
Adult Chromosome Deletion Chromosomes, Human, Pair 13 Females Homo sapiens Male Mosaicism Sequence Deletion
3
(66.3%)		 4024943
 Familial occurrence of oligomeganephronia.
Kusuyama Y, Tsukino R, Oomori H, Kuribayashi K, Katayama H, Koike M, Saito K.
Acta Pathol Jpn. 1985;35(2):449-57.
Short philtrum Micrognathia
Chromosomes, Human, 4-5 Heart Septal Defects Homo sapiens Infant Male Microcephaly Monosomy Nephrons
4
(61.0%)		 15841618
 Prenatal diagnosis of hemifacial microsomia by magnetic resonance imaging.
Hattori Y, Tanaka M, Matsumoto T, Uehara K, Ueno K, Miwegishi K, Ishimoto H, Miyakoshi K, Yoshimura Y.
J Perinat Med. 2005;33(1):69-71.
Facial asymmetry Hemiatrophy
Adult Differential Diagnosis Females Goldenhar Syndrome Homo sapiens Magnetic Resonance Imaging Male Pregnancy Pregnancy Outcome Ultrasonography
5
(60.5%)		 6507477
 A "new" lethal multiple congenital anomaly syndrome: joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations.
Rutledge JC, Friedman JM, Harrod MJ, Currarino G, Wright CG, Pinckney L, Chen H.
Am J Med Genet. 1984;19(2):255-64.
Microglossia Micrognathia
Bone and Bones Brain Congenital Heart Defects Dwarfism Females Genes, Lethal Genes, Recessive Homo sapiens Infant, Newborn Kidney Male Syndrome
6
(57.8%)		 6344634
 The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971.
Houston CS, Opitz JM, Spranger JW, Macpherson RI, Reed MH, Gilbert EF, Herrmann J, Schinzel A.
Am J Med Genet. 1983;15(1):3-28.
Micrognathia
Bone and Bones Cartilage Females Genitalia H-Y Antigen Homo sapiens Infant, Newborn Male Respiratory Distress Syndrome, Newborn Respiratory System Syndrome
7
(57.3%)		 18512233
 Complex toe syndactyly with characteristic facial phenotype: a new syndrome?
Sobreira NL, Cernach MC, Brunoni D, Perez AB.
Am J Med Genet A. 2008;146A(13):1725-8.
Syndactyly Ablepharon
Child Craniofacial Abnormalities Females Fingers Genes, Recessive Hand Homo sapiens Phenotype Syndactyly Syndrome Toes
8
(55.8%)		 28559208
 Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms.
Afzal M, Zaman Q, Kornak U, Mundlos S, Malik S, Flottmann R.
Eur J Med Genet. 2017;60(8):421-425.
Syndactyly Frontal bossing Cleft lip
LRP4
c|SUB|G|316+1|A;RS#:780336679 rs780336679
Child Females Homo sapiens LDL-Receptor Related Proteins Male Mutation Phenotype RNA Splicing Syndactyly
9
(55.7%)		 6686259
 Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psychomotor retardation: variant of the Mohr syndrome or a new syndrome?
Mattei JF, Ayme S.
J Med Genet. 1983;20(6):433-5.
Median cleft lip Polydactyly
Child Congenital Hand Deformities Differential Diagnosis Diseases in Twins Females Hamartoma Homo sapiens Intellectual Disability Kidney Male Orofaciodigital Syndromes Pregnancy Psychomotor Disorders Syndrome Toes Tongue Neoplasms
10
(54.5%)		 9738862
 Bartsocas-Papas syndrome in an Arab family with four affected sibs: further characterization.
Massoud AA, Ammaari AN, Khan AS, ven Katraman B, Teebi AS.
Am J Med Genet. 1998;79(1):16-21.
Microcephaly Syndactyly Ankyloblepharon
Craniofacial Abnormalities Females Homo sapiens Infant, Newborn Male Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 107

HPO ID Term # of case reports
HP:0000822 Hypertension 12
HP:0000076 Vesicoureteral reflux 7
HP:0000252 Microcephaly 6
HP:0000072 Hydroureter 5
HP:0000083 Renal insufficiency 5
HP:0000589 Coloboma 5
HP:0001562 Oligohydramnios 5
HP:0000126 Hydronephrosis 4
HP:0002089 Pulmonary hypoplasia 4
HP:0012330 Pyelonephritis 4
HP:0000047 Hypospadias 3
HP:0000085 Horseshoe kidney 3
HP:0001903 Anemia 3
HP:0010442 Polydactyly 3
HP:0000107 Renal cyst 2
HP:0000568 Microphthalmia 2
HP:0001093 Optic nerve dysplasia 2
HP:0001159 Syndactyly 2
HP:0001655 Patent foramen ovale 2
HP:0001770 Toe syndactyly 2
HP:0001920 Renal artery stenosis 2
HP:0002149 Hyperuricemia 2
HP:0002650 Scoliosis 2
HP:0004322 Short stature 2
HP:0100790 Hernia 2
HP:0100817 Renovascular hypertension 2
HP:0410030 Cleft lip 2
HP:0000023 Inguinal hernia 1
HP:0000062 Ambiguous genitalia 1
HP:0000074 Ureteropelvic junction obstruction 1
HP:0000093 Proteinuria 1
HP:0000097 Focal segmental glomerulosclerosis 1
HP:0000099 Glomerulonephritis 1
HP:0000103 Polyuria 1
HP:0000112 Nephropathy 1
HP:0000121 Nephrocalcinosis 1
HP:0000135 Hypogonadism 1
HP:0000238 Hydrocephalus 1
HP:0000256 Macrocephaly 1
HP:0000486 Strabismus 1
HP:0000505 Visual impairment 1
HP:0000506 Telecanthus 1
HP:0000508 Ptosis 1
HP:0000518 Cataract 1
HP:0000582 Upslanted palpebral fissure 1
HP:0000588 Optic nerve coloboma 1
HP:0000767 Pectus excavatum 1
HP:0000790 Hematuria 1
HP:0000819 Diabetes mellitus 1
HP:0000821 Hypothyroidism 1
HP:0000843 Hyperparathyroidism 1
HP:0000867 Secondary hyperparathyroidism 1
HP:0000969 Edema 1
HP:0001171 Split hand 1
HP:0001199 Triphalangeal thumb 1
HP:0001258 Spastic paraplegia 1
HP:0001263 Global developmental delay 1
HP:0001321 Cerebellar hypoplasia 1
HP:0001338 Partial agenesis of the corpus callosum 1
HP:0001511 Intrauterine growth retardation 1
HP:0001513 Obesity 1
HP:0001541 Ascites 1
HP:0001629 Ventricular septal defect 1
HP:0001643 Patent ductus arteriosus 1
HP:0001647 Bicuspid aortic valve 1
HP:0001762 Talipes equinovarus 1
HP:0001838 Rocker bottom foot 1
HP:0001876 Pancytopenia 1
HP:0001909 Leukemia 1
HP:0002007 Frontal bossing 1
HP:0002020 Gastroesophageal reflux 1
HP:0002025 Anal stenosis 1
HP:0002139 Arrhinencephaly 1
HP:0002205 Recurrent respiratory infections 1
HP:0002315 Headache 1
HP:0002435 Meningocele 1
HP:0002566 Intestinal malrotation 1
HP:0002617 Dilatation 1
HP:0002668 Paraganglioma 1
HP:0002751 Kyphoscoliosis 1
HP:0002900 Hypokalemia 1
HP:0002902 Hyponatremia 1
HP:0002905 Hyperphosphatemia 1
HP:0004383 Hypoplastic left heart 1
HP:0004409 Hyposmia 1
HP:0004467 Preauricular pit 1
HP:0004792 Rectoperineal fistula 1
HP:0005112 Abdominal aortic aneurysm 1
HP:0005160 Total anomalous pulmonary venous return 1
HP:0005301 Persistent left superior vena cava 1
HP:0008677 Congenital nephrotic syndrome 1
HP:0008689 Bilateral cryptorchidism 1
HP:0008716 Urethrovaginal fistula 1
HP:0008846 Severe intrauterine growth retardation 1
HP:0012165 Oligodactyly 1
HP:0012245 Sex reversal 1
HP:0012595 Mild proteinuria 1
HP:0012787 Recurrent pyelonephritis 1
HP:0012799 Unilateral facial palsy 1
HP:0025356 Psychomotor retardation 1
HP:0030084 Clinodactyly 1
HP:0030676 Satyr ear 1
HP:0032118 Retinitis 1
HP:0040019 Finger clinodactyly 1
HP:0100259 Postaxial polydactyly 1
HP:0100272 Branchial sinus 1
HP:0100789 Torus palatinus 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID